#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
SLC45A1	50651	broad.mit.edu	37	1	8390837	8390837	+	Silent	SNP	C	C	T	rs149921947	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:8390837C>T	ENST00000471889.1	+	5	1669	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.S462S|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.S428S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	428					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGACCTCCGGCTGTGACG	0.657													C|||	6	0.00119808	0.0038	0.0	5008	,	,		15100	0.0		0.001	False		,,,				2504	0.0					uc001apb.2		NA																	0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1282-1284)TCC>TCT		DNB5		C		9,4397	16.8+/-37.8	0,9,2194	38.0	41.0	40.0		1284	-5.6	0.0	1	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous	SLC45A1	NM_001080397.1		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		428/749	8390837	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390837C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1284C>T	1.37:g.8390837C>T						SLC45A1_uc001apc.2_Silent_p.S126S	p.S428S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	1284	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	428					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1284C>T	CCDS30577.1																																																																																				0.657	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			12	82	0	0	0	0	12	82				
TARDBP	23435	broad.mit.edu	37	1	11080498	11080498	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:11080498G>C	ENST00000240185.3	+	5	670	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	TARDBP_ENST00000315091.3_Missense_Mutation_p.E186Q|TARDBP_ENST00000439080.2_Missense_Mutation_p.E70Q	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	186	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E186K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCCAAGATGAGCCTTTGAG	0.398																																						uc001art.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(556-558)GAG>CAG		TAR DNA binding protein							93.0	96.0	95.0					1																	11080498		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11080498G>C	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.556G>C	1.37:g.11080498G>C	ENSP00000240185:p.Glu186Gln					TARDBP_uc010oap.1_Missense_Mutation_p.E70Q	p.E186Q	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	5	690	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	186			RRM 1.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.556G>C	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053182	0.55218	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;D	0.85484	-1.99;-1.99;-1.99	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.75796	0.3898	N	0.16478	0.41	0.80722	D	1	B;B	0.33777	0.425;0.155	B;B	0.34489	0.184;0.054	T	0.72620	-0.4238	10	0.08837	T	0.75	-34.9493	19.9759	0.97304	0.0:0.0:1.0:0.0	.	70;186	B4DJ45;Q13148	.;TADBP_HUMAN	Q	186;70;186	ENSP00000240185:E186Q;ENSP00000404666:E70Q;ENSP00000313129:E186Q	ENSP00000240185:E186Q	E	+	1	0	TARDBP	11003085	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	9.507000	0.97996	2.713000	0.92767	0.655000	0.94253	GAG		0.398	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		11	74	0	0	0	0	11	74				
PINK1	65018	broad.mit.edu	37	1	20975048	20975048	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:20975048G>A	ENST00000321556.4	+	6	1268	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGGCTGATGAGAGCATCGG	0.612																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	uc001bdm.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1174-1176)GAG>AAG		PTEN induced putative kinase 1 precursor							66.0	58.0	60.0					1																	20975048		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20975048G>A	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1174G>A	1.37:g.20975048G>A	ENSP00000364204:p.Glu392Lys					PINK1_uc001bdn.2_Missense_Mutation_p.E85K	p.E392K	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1268	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	392			Protein kinase.|Cytoplasmic (Potential).		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.1174G>A	CCDS211.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090195	0.36855	.	.	ENSG00000158828	ENST00000321556	T	0.73575	-0.76	6.17	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.704521	0.15476	N	0.260327	T	0.60495	0.2273	L	0.28556	0.865	0.09310	N	1	B;B	0.31351	0.169;0.32	B;B	0.37387	0.079;0.248	T	0.50215	-0.8854	10	0.02654	T	1	-6.6043	9.068	0.36475	0.0779:0.1464:0.7757:0.0	.	85;392	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	K	392	ENSP00000364204:E392K	ENSP00000364204:E392K	E	+	1	0	PINK1	20847635	1.000000	0.71417	0.013000	0.15412	0.901000	0.52897	3.116000	0.50399	0.923000	0.37045	0.655000	0.94253	GAG		0.612	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		3	29	0	0	0	0	3	29				
HP1BP3	50809	broad.mit.edu	37	1	21103166	21103166	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:21103166C>T	ENST00000312239.5	-	4	413	c.274G>A	c.(274-276)Gag>Aag	p.E92K	HP1BP3_ENST00000375003.2_5'Flank|HP1BP3_ENST00000487117.1_5'UTR|HP1BP3_ENST00000375000.1_Missense_Mutation_p.E92K	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	92					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGCTCTGCCTCACTCGAAGTA	0.423																																						uc001bdw.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(274-276)GAG>AAG		HP1-BP74							178.0	177.0	177.0					1																	21103166		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21103166C>T	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.274G>A	1.37:g.21103166C>T	ENSP00000312625:p.Glu92Lys					HP1BP3_uc001bdv.1_Missense_Mutation_p.E54K|HP1BP3_uc010odh.1_Missense_Mutation_p.E54K|HP1BP3_uc001bdy.1_Missense_Mutation_p.E92K|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.E91K|HP1BP3_uc001beb.2_Missense_Mutation_p.E92K	p.E92K	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	4	414	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	92					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.274G>A	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320540	0.95682	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000438032;ENST00000424732;ENST00000417710;ENST00000375000	T;T;T	0.49139	0.79;1.75;1.77	6.07	6.07	0.98685	.	0.102804	0.64402	D	0.000003	T	0.59348	0.2187	L	0.27053	0.805	0.58432	D	0.999995	D;D;D	0.71674	0.998;0.998;0.993	D;D;D	0.80764	0.994;0.991;0.971	T	0.55566	-0.8121	10	0.41790	T	0.15	-20.8841	20.6439	0.99570	0.0:1.0:0.0:0.0	.	92;54;92	Q5SSJ5-5;Q5SSJ5-2;Q5SSJ5	.;.;HP1B3_HUMAN	K	92;54;92;54;92;92	ENSP00000312625:E92K;ENSP00000403039:E92K;ENSP00000402754:E54K	ENSP00000312625:E92K	E	-	1	0	HP1BP3	20975753	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.770000	0.62309	2.884000	0.98904	0.655000	0.94253	GAG		0.423	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		21	102	0	0	0	0	21	102				
SRRM1	10250	broad.mit.edu	37	1	24978971	24978971	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:24978971G>C	ENST00000323848.9	+	7	1087	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	SRRM1_ENST00000537199.1_Missense_Mutation_p.E127Q|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.E258Q|SRRM1_ENST00000447431.2_Missense_Mutation_p.E258Q	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	258	Arg-rich.|Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGAGCCTAAAGAACCTTCTCC	0.443																																					Ovarian(68;897 1494 3282 17478)	uc001bjm.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(772-774)GAA>CAA		serine/arginine repetitive matrix 1							27.0	31.0	30.0					1																	24978971		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24978971G>C	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.772G>C	1.37:g.24978971G>C	ENSP00000326261:p.Glu258Gln					SRRM1_uc010oel.1_Missense_Mutation_p.E258Q|SRRM1_uc009vrh.1_Missense_Mutation_p.E219Q|SRRM1_uc009vri.1_Missense_Mutation_p.E175Q|SRRM1_uc010oem.1_RNA	p.E258Q	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	7	996	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	258			Pro-rich.|Arg-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.772G>C	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246368	0.80024	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.52526	0.77;0.79;0.76;0.66	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000004	T	0.67078	0.2855	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.65236	-0.6217	10	0.62326	D	0.03	-4.2415	20.2117	0.98287	0.0:0.0:1.0:0.0	.	258;258	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	Q	258;258;258;127	ENSP00000326261:E258Q;ENSP00000391430:E258Q;ENSP00000363510:E258Q;ENSP00000441776:E127Q	ENSP00000326261:E258Q	E	+	1	0	SRRM1	24851558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.670000	0.74467	2.878000	0.98634	0.650000	0.86243	GAA		0.443	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		3	25	0	0	0	0	3	25				
TIE1	7075	broad.mit.edu	37	1	43778831	43778831	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:43778831C>T	ENST00000372476.3	+	13	2032	c.1953C>T	c.(1951-1953)caC>caT	p.H651H	TIE1_ENST00000433781.2_Silent_p.H296H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	651	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACACCTCCACGCCCAGGCCC	0.637																																						uc001ciu.2		NA																	0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1951-1953)CAC>CAT		tyrosine kinase with immunoglobulin-like and							43.0	46.0	45.0					1																	43778831		2203	4299	6502	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778831C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1953C>T	1.37:g.43778831C>T						TIE1_uc010okd.1_Silent_p.H651H|TIE1_uc010oke.1_Silent_p.H606H|TIE1_uc009vwq.2_Silent_p.H607H|TIE1_uc010okf.1_Silent_p.H296H|TIE1_uc010okg.1_Silent_p.H296H	p.H651H	NM_005424	NP_005415	P35590	TIE1_HUMAN			13	2032	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	651			Fibronectin type-III 3.|Extracellular (Potential).		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1953C>T	CCDS482.1																																																																																				0.637	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	45	0	0	0	0	6	45				
ST3GAL3	6487	broad.mit.edu	37	1	44303969	44303969	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:44303969G>A	ENST00000361392.4	+	5	465	c.288G>A	c.(286-288)acG>acA	p.T96T	ST3GAL3_ENST00000347631.2_Silent_p.T111T|ST3GAL3_ENST00000533933.1_Silent_p.T96T|ST3GAL3_ENST00000372377.4_Silent_p.T96T|ST3GAL3_ENST00000351035.3_Silent_p.T134T|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000361400.4_Silent_p.T80T|ST3GAL3_ENST00000372369.1_Silent_p.T96T|ST3GAL3_ENST00000372362.2_Silent_p.T96T|ST3GAL3_ENST00000531451.1_Silent_p.T80T|ST3GAL3_ENST00000353126.3_Silent_p.T96T|ST3GAL3_ENST00000361746.4_Silent_p.T165T|ST3GAL3_ENST00000531816.1_Silent_p.T80T|ST3GAL3_ENST00000330208.2_Silent_p.T96T|ST3GAL3_ENST00000361812.4_Silent_p.T111T|ST3GAL3_ENST00000335430.6_Silent_p.T80T|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000262915.3_Silent_p.T165T|ST3GAL3_ENST00000531993.1_Silent_p.T80T|ST3GAL3_ENST00000528371.1_Silent_p.T80T|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000372372.2_Silent_p.T134T|ST3GAL3_ENST00000372375.2_Silent_p.T150T|ST3GAL3_ENST00000372367.1_Silent_p.T95T|ST3GAL3_ENST00000372365.1_Silent_p.T96T|ST3GAL3_ENST00000372366.1_Silent_p.T95T|ST3GAL3_ENST00000372368.2_Silent_p.T150T|ST3GAL3_ENST00000545417.1_Silent_p.T111T	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	96					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTTGATGACGGCCATCTTCC	0.542																																						uc001ckc.2		NA																	0				ovary(3)	3						c.(286-288)ACG>ACA		sialyltransferase 6 isoform j							184.0	168.0	173.0					1																	44303969		2203	4300	6503	SO:0001819	synonymous_variant	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44303969G>A	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.288G>A	1.37:g.44303969G>A						ST3GAL3_uc009vwu.1_RNA|ST3GAL3_uc010okj.1_RNA|ST3GAL3_uc001cjz.2_Silent_p.T111T|ST3GAL3_uc001cka.2_Silent_p.T80T|ST3GAL3_uc001ckb.2_Silent_p.T165T|ST3GAL3_uc001ckd.2_Silent_p.T150T|ST3GAL3_uc001cke.2_Silent_p.T80T|ST3GAL3_uc001ckf.2_Silent_p.T134T|ST3GAL3_uc001ckg.2_Silent_p.T96T|ST3GAL3_uc001ckh.2_Silent_p.T111T|ST3GAL3_uc001cki.2_Silent_p.T96T|ST3GAL3_uc009vwv.2_Silent_p.T96T|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Intron|ST3GAL3_uc009vwy.2_Silent_p.T2T|ST3GAL3_uc009vwx.2_RNA|ST3GAL3_uc001ckm.2_Silent_p.T95T|ST3GAL3_uc001ckl.2_Silent_p.T96T|ST3GAL3_uc009vwz.2_5'UTR|ST3GAL3_uc001ckn.2_RNA|ST3GAL3_uc001ckp.2_Silent_p.T95T|ST3GAL3_uc001cko.2_Silent_p.T80T|ST3GAL3_uc009vxa.2_Intron|ST3GAL3_uc001ckq.2_Silent_p.T80T|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Silent_p.T80T	p.T96T	NM_006279	NP_006270	Q11203	SIAT6_HUMAN			5	465	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	96			Lumenal (Potential).		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	c.288G>A	CCDS492.1																																																																																				0.542	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		28	170	0	0	0	0	28	170				
CDCP2	200008	broad.mit.edu	37	1	54610233	54610233	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:54610233C>G	ENST00000371330.1	-	2	1180	c.333G>C	c.(331-333)ccG>ccC	p.P111P	RP11-446E24.4_ENST00000525949.1_Intron|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	111	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TGAAGGGCGGCGGGGGCACCT	0.587																																						uc001cwv.1		NA																	0				ovary(1)	1						c.(331-333)CCG>CCC		CUB domain containing protein 2 precursor							60.0	60.0	60.0					1																	54610233		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54610233C>G		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.333G>C	1.37:g.54610233C>G							p.P111P	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			2	1181	-			111			CUB 1.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.333G>C	CCDS588.2																																																																																				0.587	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		9	33	0	0	0	0	9	33				
LRRC40	55631	broad.mit.edu	37	1	70618219	70618219	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:70618219C>G	ENST00000370952.3	-	12	1415	c.1336G>C	c.(1336-1338)Gaa>Caa	p.E446Q		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	446						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCCTTCAGTTCTACCATCCTG	0.323																																						uc001der.1		NA																	0				ovary(1)	1						c.(1336-1338)GAA>CAA		leucine rich repeat containing 40							59.0	57.0	58.0					1																	70618219		2202	4294	6496	SO:0001583	missense	55631							g.chr1:70618219C>G		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1336G>C	1.37:g.70618219C>G	ENSP00000359990:p.Glu446Gln						p.E446Q	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			12	1388	-			446			LRR 14.		Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.1336G>C	CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205576	0.58234	.	.	ENSG00000066557	ENST00000370952	T	0.52057	0.68	5.45	5.45	0.79879	.	0.098155	0.64402	D	0.000002	T	0.24890	0.0604	L	0.37750	1.13	0.54753	D	0.999983	B	0.31077	0.307	B	0.29440	0.102	T	0.09357	-1.0678	10	0.14656	T	0.56	.	19.2793	0.94046	0.0:1.0:0.0:0.0	.	446	Q9H9A6	LRC40_HUMAN	Q	446	ENSP00000359990:E446Q	ENSP00000359990:E446Q	E	-	1	0	LRRC40	70390807	1.000000	0.71417	0.953000	0.39169	0.955000	0.61496	6.107000	0.71517	2.559000	0.86315	0.650000	0.86243	GAA		0.323	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		7	35	0	0	0	0	7	35				
AK5	26289	broad.mit.edu	37	1	77806120	77806120	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:77806120G>C	ENST00000354567.2	+	6	1021	c.758G>C	c.(757-759)aGa>aCa	p.R253T	AK5_ENST00000344720.5_Missense_Mutation_p.R227T	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	253	Adenylate kinase 1.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CTCAAAGAAAGATTACTGAAG	0.458																																						uc001dhn.2		NA																	0				skin(1)	1						c.(757-759)AGA>ACA		adenylate kinase 5 isoform 1							158.0	150.0	153.0					1																	77806120		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77806120G>C	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.758G>C	1.37:g.77806120G>C	ENSP00000346577:p.Arg253Thr					AK5_uc001dho.2_Missense_Mutation_p.R227T	p.R253T	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			6	1015	+			253					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.758G>C	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061592	0.93846	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	D;D	0.86865	-2.18;-2.18	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.96778	0.9573	10	0.87932	D	0	-6.8439	18.8959	0.92423	0.0:0.0:1.0:0.0	.	253	Q9Y6K8	KAD5_HUMAN	T	253;227	ENSP00000346577:R253T;ENSP00000341430:R227T	ENSP00000341430:R227T	R	+	2	0	AK5	77578708	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	9.345000	0.97053	2.531000	0.85337	0.655000	0.94253	AGA		0.458	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		11	80	0	0	0	0	11	80				
HSD3B2	3284	broad.mit.edu	37	1	119964589	119964589	+	Silent	SNP	G	G	A	rs114527791	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:119964589G>A	ENST00000543831.1	+	4	714	c.465G>A	c.(463-465)ccG>ccA	p.P155P	HSD3B2_ENST00000369416.3_Silent_p.P155P	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	155			P -> L (in AH2; nonsalt-wasting form). {ECO:0000269|PubMed:10599696}.		androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CTCCATACCCGTACAGCAAAA	0.498													G|||	9	0.00179712	0.0	0.0	5008	,	,		19173	0.004		0.001	False		,,,				2504	0.0041					uc001ehs.2		NA																	0				ovary(2)	2						c.(463-465)CCG>CCA		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)	G	,	0,4406		0,0,2203	85.0	84.0	85.0		465,465	-6.7	0.7	1	dbSNP_132	85	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	HSD3B2	NM_000198.3,NM_001166120.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	155/373,155/373	119964589	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119964589G>A	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.465G>A	1.37:g.119964589G>A						HSD3B2_uc001eht.2_Silent_p.P155P|HSD3B2_uc001ehu.2_Intron	p.P155P	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	3	1238	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	155		P -> L (in AH2; nonsalt-wasting form).			A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	ENST00000543831.1	37	c.465G>A	CCDS902.1																																																																																				0.498	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		21	74	0	0	0	0	21	74				
ANKRD34A	284615	broad.mit.edu	37	1	145473612	145473612	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:145473612C>T	ENST00000323397.4	+	4	1577	c.284C>T	c.(283-285)tCg>tTg	p.S95L	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	95						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGGTGGCCTCGCTGCTCCTT	0.721																																						uc001enq.1		NA																	0					0						c.(283-285)TCG>TTG		ankyrin repeat domain 34							28.0	32.0	30.0					1																	145473612		2198	4294	6492	SO:0001583	missense	284615							g.chr1:145473612C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.284C>T	1.37:g.145473612C>T	ENSP00000314103:p.Ser95Leu					NBPF10_uc001emp.3_Intron	p.S95L	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1577	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		95			ANK 3.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.284C>T	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397484	0.62177	.	.	ENSG00000181039	ENST00000323397	T	0.65178	-0.14	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.597070	0.16302	N	0.220388	T	0.30039	0.0752	N	0.10809	0.05	0.41042	D	0.985232	B	0.31879	0.344	B	0.23275	0.045	T	0.38929	-0.9638	10	0.72032	D	0.01	-6.7011	16.1197	0.81342	0.0:1.0:0.0:0.0	.	95	Q69YU3	AN34A_HUMAN	L	95	ENSP00000314103:S95L	ENSP00000314103:S95L	S	+	2	0	ANKRD34A	144184969	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	5.549000	0.67261	2.658000	0.90341	0.491000	0.48974	TCG		0.721	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			9	47	0	0	0	0	9	47				
ANKRD34A	284615	broad.mit.edu	37	1	145473671	145473671	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:145473671C>G	ENST00000323397.4	+	4	1636	c.343C>G	c.(343-345)Ctt>Gtt	p.L115V	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	115						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCCTCGGCTCTTGTCCACGC	0.701																																						uc001enq.1		NA																	0					0						c.(343-345)CTT>GTT		ankyrin repeat domain 34							22.0	23.0	23.0					1																	145473671		2202	4298	6500	SO:0001583	missense	284615							g.chr1:145473671C>G	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.343C>G	1.37:g.145473671C>G	ENSP00000314103:p.Leu115Val					NBPF10_uc001emp.3_Intron	p.L115V	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1636	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		115			ANK 4.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.343C>G	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909576	0.72868	.	.	ENSG00000181039	ENST00000323397	D	0.81739	-1.53	5.13	4.2	0.49525	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	D	0.87822	0.6274	M	0.85859	2.78	0.45439	D	0.998411	D	0.69078	0.997	D	0.81914	0.995	D	0.88722	0.3230	10	0.87932	D	0	-9.8812	11.7509	0.51847	0.0:0.9123:0.0:0.0877	.	115	Q69YU3	AN34A_HUMAN	V	115	ENSP00000314103:L115V	ENSP00000314103:L115V	L	+	1	0	ANKRD34A	144185028	0.972000	0.33761	0.997000	0.53966	0.982000	0.71751	2.426000	0.44731	2.658000	0.90341	0.491000	0.48974	CTT		0.701	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			8	38	0	0	0	0	8	38				
TRIM46	80128	broad.mit.edu	37	1	155160217	155160217	+	IGR	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:155160217C>T	ENST00000334634.4	+	0	3061				MUC1_ENST00000368389.2_Intron|MUC1_ENST00000337604.5_Silent_p.L152L|MUC1_ENST00000343256.5_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368398.3_Silent_p.L109L|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368390.3_Silent_p.L134L|MUC1_ENST00000457295.2_Silent_p.L143L|MUC1_ENST00000338684.5_Silent_p.L103L|MUC1_ENST00000368393.3_Silent_p.L152L|MUC1_ENST00000438413.1_Silent_p.L108L|MUC1_ENST00000368392.3_Silent_p.L143L|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368395.1_Silent_p.L354L	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGAGATCGTCAGGTTATATC	0.552																																						uc010pfj.1		NA								T					IGH@		B-NHL		0				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(685-687)CTG>CTA		SubName: Full=Mucin 1, cell surface associated;							52.0	48.0	49.0					1																	155160217		2198	4298	6496	SO:0001628	intergenic_variant	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155160217C>T		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155160217C>T						RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_Silent_p.L59L|MUC1_uc001fhz.2_Silent_p.L59L|MUC1_uc010pfb.1_Silent_p.L59L|MUC1_uc010pfc.1_RNA|MUC1_uc009wph.2_Silent_p.L59L|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_RNA|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Silent_p.L59L|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Silent_p.L205L|MUC1_uc010pfi.1_Silent_p.L205L|MUC1_uc010pfk.1_RNA|MUC1_uc010pfl.1_RNA|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Silent_p.L81L|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Silent_p.L90L|MUC1_uc009wpo.2_Silent_p.L96L|MUC1_uc009wps.2_Silent_p.L117L|MUC1_uc009wpt.2_Silent_p.L120L|MUC1_uc001fic.2_Silent_p.L108L|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Silent_p.L122L|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Silent_p.L118L|MUC1_uc001fid.2_Silent_p.L109L|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Silent_p.L143L|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Silent_p.L59L|MUC1_uc001fiq.2_Silent_p.L59L|MUC1_uc009wpz.2_Silent_p.L161L|MUC1_uc010pfn.1_Silent_p.L134L|MUC1_uc009wqa.2_Silent_p.L217L|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Silent_p.L134L|MUC1_uc009wqc.2_Silent_p.L131L|MUC1_uc009wqd.2_Silent_p.L155L|MUC1_uc009wqb.2_Silent_p.L59L|MUC1_uc010pfq.1_Silent_p.L131L|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Silent_p.L59L|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Silent_p.L152L|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_RNA|MUC1_uc001fik.2_Silent_p.L152L|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Silent_p.L143L|MUC1_uc001fis.1_Intron	p.L229L			P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	1093	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		1134			Extracellular (Potential).|SEA.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	c.687G>A	CCDS1097.1																																																																																				0.552	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		7	23	0	0	0	0	7	23				
CRB1	23418	broad.mit.edu	37	1	197396601	197396601	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:197396601T>C	ENST00000367400.3	+	7	2281	c.2146T>C	c.(2146-2148)Ttt>Ctt	p.F716L	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.F197L|CRB1_ENST00000367399.2_Missense_Mutation_p.F604L|CRB1_ENST00000367397.1_Missense_Mutation_p.F97L|CRB1_ENST00000535699.1_Missense_Mutation_p.F647L|CRB1_ENST00000543483.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	716	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGCAGGCAGATTTGGCCAGGA	0.433																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(2146-2148)TTT>CTT		crumbs homolog 1 precursor							67.0	62.0	64.0					1																	197396601		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197396601T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2146T>C	1.37:g.197396601T>C	ENSP00000356370:p.Phe716Leu					CRB1_uc010poz.1_Missense_Mutation_p.F647L|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.F604L|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.F197L|CRB1_uc001gub.1_Missense_Mutation_p.F365L	p.F716L	NM_201253	NP_957705	P82279	CRUM1_HUMAN			7	2281	+			716			Extracellular (Potential).|Laminin G-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.2146T>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.563191	0.65538	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	D	0.95981	0.8691	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	0.999;0.99;1.0;0.997	D;D;D;D	0.87578	0.99;0.979;0.998;0.97	D	0.95013	0.8153	9	0.12103	T	0.63	.	16.0755	0.80965	0.0:0.0:0.0:1.0	.	647;604;365;716	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	647;716;604;197;97;365	ENSP00000438786:F647L;ENSP00000356370:F716L;ENSP00000356369:F604L;ENSP00000444556:F197L;ENSP00000356367:F97L	ENSP00000356367:F97L	F	+	1	0	CRB1	195663224	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	7.491000	0.81471	2.182000	0.69389	0.528000	0.53228	TTT		0.433	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		5	31	0	0	0	0	5	31				
PIK3C2B	5287	broad.mit.edu	37	1	204408140	204408140	+	Missense_Mutation	SNP	C	C	T	rs75201325		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:204408140C>T	ENST00000367187.3	-	24	3995	c.3439G>A	c.(3439-3441)Gtg>Atg	p.V1147M	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.V1119M	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1147	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGCCGGTCACCCCATGCTCC	0.592																																						uc001haw.2		NA																	0				lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1)	7						c.(3439-3441)GTG>ATG		phosphoinositide-3-kinase, class 2 beta							99.0	76.0	84.0					1																	204408140		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204408140C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3439G>A	1.37:g.204408140C>T	ENSP00000356155:p.Val1147Met					PIK3C2B_uc010pqv.1_Missense_Mutation_p.V1119M	p.V1147M	NM_002646	NP_002637	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		24	3918	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		1147			PI3K/PI4K.		O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.3439G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	32	5.155622	0.94686	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.79141	-1.24;-1.24	5.5	5.5	0.81552	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.066284	0.64402	D	0.000010	D	0.84606	0.5509	L	0.39898	1.24	0.52501	D	0.999959	D;D	0.89917	0.99;1.0	D;D	0.91635	0.947;0.999	D	0.85744	0.1339	10	0.72032	D	0.01	.	18.9895	0.92786	0.0:1.0:0.0:0.0	.	1119;1147	F5GWN5;O00750	.;P3C2B_HUMAN	M	1147;1119	ENSP00000356155:V1147M;ENSP00000400561:V1119M	ENSP00000356155:V1147M	V	-	1	0	PIK3C2B	202674763	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.582000	0.87167	0.563000	0.77884	GTG		0.592	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		9	19	0	0	0	0	9	19				
NID1	4811	broad.mit.edu	37	1	236189239	236189239	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:236189239C>A	ENST00000264187.6	-	8	2023	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	NID1_ENST00000366595.3_Missense_Mutation_p.K647N	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	647	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGCGCAAGATCTTCTCCTCCT	0.577																																						uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1939-1941)AAG>AAT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						208.0	187.0	194.0					1																	236189239		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236189239C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1941G>T	1.37:g.236189239C>A	ENSP00000264187:p.Lys647Asn					NID1_uc009xgd.2_Missense_Mutation_p.K647N	p.K647N	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		8	2043	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	647			Nidogen G2 beta-barrel.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1941G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857904	0.32791	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.22539	1.95;1.95	5.02	4.1	0.47936	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.443578	0.27068	N	0.021083	T	0.18718	0.0449	L	0.50333	1.59	0.22185	N	0.999303	B;B	0.17667	0.023;0.004	B;B	0.23852	0.049;0.004	T	0.16335	-1.0406	10	0.46703	T	0.11	.	6.0294	0.19671	0.0:0.6495:0.1599:0.1905	.	647;647	P14543-2;P14543	.;NID1_HUMAN	N	647	ENSP00000264187:K647N;ENSP00000355554:K647N	ENSP00000264187:K647N	K	-	3	2	NID1	234255862	0.812000	0.29077	1.000000	0.80357	0.876000	0.50452	1.309000	0.33539	1.319000	0.45190	0.655000	0.94253	AAG		0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		39	174	1	0	5.59e-11	6.13e-11	39	174				
PITRM1	10531	broad.mit.edu	37	10	3189404	3189404	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:3189404G>C	ENST00000224949.4	-	20	2308	c.2274C>G	c.(2272-2274)atC>atG	p.I758M	PITRM1_ENST00000380994.1_Missense_Mutation_p.I316M|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.I759M|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.I660M			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	758					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGATGGGTTTGATATCTGTCA	0.438																																						uc010qah.1		NA																	0				pancreas(1)	1						c.(1978-1980)ATC>ATG		SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;							152.0	147.0	149.0					10																	3189404		1950	4157	6107	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3189404G>C	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2274C>G	10.37:g.3189404G>C	ENSP00000224949:p.Ile758Met					PITRM1_uc001igr.1_Missense_Mutation_p.I758M|PITRM1_uc001igs.1_5'Flank|PITRM1_uc001igt.1_Missense_Mutation_p.I758M|PITRM1_uc009xhv.1_Missense_Mutation_p.I324M|PITRM1_uc001igu.1_Missense_Mutation_p.I684M|PITRM1_uc010qai.1_Missense_Mutation_p.I729M|uc001igv.1_RNA	p.I660M			E7ES23	E7ES23_HUMAN			17	2012	-			660					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.1980C>G	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	3.894|3.894	-0.023313|-0.023313	0.07634|0.07634	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104|ENST00000451454	T;T;T;T|.	0.31247|.	1.5;1.5;1.5;1.5|.	5.66|5.66	-0.592|-0.592	0.11671|0.11671	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.472311|.	0.25780|.	N|.	0.028347|.	T|T	0.28797|0.28797	0.0714|0.0714	N|N	0.25380|0.25380	0.74|0.74	0.19575|0.19575	N|N	0.999966|0.999966	B;B;B;B;B|.	0.16166|.	0.016;0.016;0.015;0.015;0.015|.	B;B;B;B;B|.	0.16722|.	0.011;0.007;0.016;0.016;0.016|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|5	0.33141|.	T|.	0.24|.	-14.2418|-14.2418	7.914|7.914	0.29808|0.29808	0.1898:0.4961:0.3141:0.0|0.1898:0.4961:0.3141:0.0	.|.	751;660;759;758;751|.	E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07|.	.;.;.;PREP_HUMAN;.|.	M|E	758;751;759;316;660|92	ENSP00000224949:I758M;ENSP00000370377:I759M;ENSP00000370382:I316M;ENSP00000401201:I660M|.	ENSP00000224949:I758M|.	I|Q	-|-	3|1	3|0	PITRM1|PITRM1	3179404|3179404	0.045000|0.045000	0.20229|0.20229	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.102000|0.102000	0.15272|0.15272	0.017000|0.017000	0.15025|0.15025	0.561000|0.561000	0.74099|0.74099	ATC|CAA		0.438	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			8	49	0	0	0	0	8	49				
SFMBT2	57713	broad.mit.edu	37	10	7409703	7409703	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:7409703C>T	ENST00000361972.4	-	4	434	c.344G>A	c.(343-345)cGc>cAc	p.R115H	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R115H|SFMBT2_ENST00000397160.3_Missense_Mutation_p.R115H|SFMBT2_ENST00000379713.3_Missense_Mutation_p.R115H|SFMBT2_ENST00000379711.2_Missense_Mutation_p.R115H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	115					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R115H(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GTCGGCCCTGCGGTCCTCCCC	0.612																																						uc009xio.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(343-345)CGC>CAC		Scm-like with four mbt domains 2							81.0	75.0	77.0					10																	7409703		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7409703C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.344G>A	10.37:g.7409703C>T	ENSP00000355109:p.Arg115His					SFMBT2_uc001ijn.1_Missense_Mutation_p.R115H|SFMBT2_uc010qay.1_Missense_Mutation_p.R115H|SFMBT2_uc001ijo.1_Missense_Mutation_p.R115H	p.R115H	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			4	435	-			115			MBT 1.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.344G>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953403	0.92660	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.42900	0.96;0.96;0.96;1.54;1.54	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69254	-0.5193	10	0.49607	T	0.09	.	17.8186	0.88643	0.0:1.0:0.0:0.0	.	115;115	Q5T981;Q5VUG0	.;SMBT2_HUMAN	H	115	ENSP00000355109:R115H;ENSP00000380353:R115H;ENSP00000369035:R115H;ENSP00000369033:R115H;ENSP00000380346:R115H	ENSP00000355109:R115H	R	-	2	0	SFMBT2	7449709	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.637000	0.83313	2.371000	0.80710	0.305000	0.20034	CGC		0.612	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	35	0	0	0	0	7	35				
GDF2	2658	broad.mit.edu	37	10	48414496	48414496	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:48414496C>T	ENST00000249598.1	-	2	531	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	124					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGGGGAAGTCCTCTGTGGCAG	0.507																																						uc001jfa.1		NA																	0				ovary(2)|skin(1)	3						c.(370-372)GAG>GAA		growth differentiation factor 2 precursor							54.0	56.0	55.0					10																	48414496		2203	4300	6503	SO:0001819	synonymous_variant	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414496C>T	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.372G>A	10.37:g.48414496C>T							p.E124E	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	535	-			124					Q5VSQ9|Q9Y571	Silent	SNP	ENST00000249598.1	37	c.372G>A	CCDS7219.1																																																																																				0.507	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		3	21	0	0	0	0	3	21				
JMJD1C	221037	broad.mit.edu	37	10	64979732	64979732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:64979732G>C	ENST00000399262.2	-	4	677	c.459C>G	c.(457-459)gaC>gaG	p.D153E	JMJD1C_ENST00000542921.1_5'UTR|JMJD1C_ENST00000402544.1_Intron|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000489372.2_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	153					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGTTTAGGCTGTCTATGTCGT	0.423																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(457-459)GAC>GAG		jumonji domain containing 1C isoform a							127.0	120.0	122.0					10																	64979732		1873	4099	5972	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64979732G>C	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.459C>G	10.37:g.64979732G>C	ENSP00000382204:p.Asp153Glu					JMJD1C_uc001jml.2_Intron|JMJD1C_uc001jmm.2_5'UTR|JMJD1C_uc010qiq.1_5'UTR|JMJD1C_uc009xpi.2_5'UTR|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc001jmp.1_Intron	p.D153E	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			4	759	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		153					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.459C>G	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850509	0.71719	.	.	ENSG00000171988	ENST00000399262	T	0.47177	0.85	5.25	3.34	0.38264	.	0.000000	0.64402	U	0.000002	T	0.33323	0.0859	L	0.34521	1.04	0.80722	D	1	B	0.20052	0.041	B	0.19946	0.027	T	0.14699	-1.0463	10	0.45353	T	0.12	-2.6777	6.8781	0.24158	0.1444:0.0:0.7148:0.1408	.	153	Q15652	JHD2C_HUMAN	E	153	ENSP00000382204:D153E	ENSP00000382204:D153E	D	-	3	2	JMJD1C	64649738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.811000	0.62606	1.181000	0.42912	0.460000	0.39030	GAC		0.423	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		17	70	0	0	0	0	17	70				
LRRTM3	347731	broad.mit.edu	37	10	68857399	68857399	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:68857399A>C	ENST00000361320.4	+	3	2169	c.1591A>C	c.(1591-1593)Agt>Cgt	p.S531R	CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	531					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCCCACAATAAGTTACTGTGG	0.418																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1591-1593)AGT>CGT		leucine rich repeat transmembrane neuronal 3							155.0	140.0	145.0					10																	68857399		2203	4299	6502	SO:0001583	missense	347731					integral to membrane		g.chr10:68857399A>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1591A>C	10.37:g.68857399A>C	ENSP00000355187:p.Ser531Arg					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron	p.S531R	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			3	2141	+			531			Cytoplasmic (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.1591A>C	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.530421	0.27387	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.75704	-0.96	5.92	4.8	0.61643	.	0.000000	0.64402	D	0.000019	T	0.52613	0.1745	N	0.08118	0	0.35924	D	0.832035	B	0.06786	0.001	B	0.04013	0.001	T	0.57254	-0.7843	10	0.40728	T	0.16	.	9.1982	0.37242	0.9182:0.0:0.0818:0.0	.	531	Q86VH5	LRRT3_HUMAN	R	531	ENSP00000355187:S531R	ENSP00000355187:S531R	S	+	1	0	LRRTM3	68527405	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.568000	0.53820	2.277000	0.76020	0.528000	0.53228	AGT		0.418	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		9	87	0	0	0	0	9	87				
ENTPD7	57089	broad.mit.edu	37	10	101439180	101439180	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:101439180G>A	ENST00000370489.4	+	4	532	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	118						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCAAACAGATGAGAGACCGCA	0.428																																						uc001kqa.3		NA																	0				ovary(1)	1						c.(352-354)ATG>ATA		ectonucleoside triphosphate diphosphohydrolase							69.0	69.0	69.0					10																	101439180		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101439180G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.354G>A	10.37:g.101439180G>A	ENSP00000359520:p.Met118Ile					ENTPD7_uc009xwl.2_Missense_Mutation_p.M120I	p.M118I	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	4	532	+		Colorectal(252;0.234)	118			Vesicular (Potential).		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.354G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106741	0.77096	.	.	ENSG00000198018	ENST00000370489	T	0.10960	2.82	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.19565	0.0470	L	0.28504	0.86	0.58432	D	0.999999	P	0.46859	0.885	P	0.58130	0.833	T	0.01600	-1.1315	10	0.26408	T	0.33	-28.641	18.6552	0.91450	0.0:0.0:1.0:0.0	.	118	Q9NQZ7	ENTP7_HUMAN	I	118	ENSP00000359520:M118I	ENSP00000359520:M118I	M	+	3	0	ENTPD7	101429170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.235000	0.95353	2.732000	0.93576	0.655000	0.94253	ATG		0.428	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		4	28	0	0	0	0	4	28				
ITPRIP	85450	broad.mit.edu	37	10	106075039	106075039	+	Silent	SNP	G	G	A	rs200546667		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr10:106075039G>A	ENST00000337478.1	-	2	942	c.771C>T	c.(769-771)tgC>tgT	p.C257C	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Silent_p.C257C|ITPRIP_ENST00000358187.2_Silent_p.C257C	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	257						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGGTCTTGCCGCAGATGCAGC	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20050	0.0		0.0	False		,,,				2504	0.0					uc001kye.2		NA																	0					0						c.(769-771)TGC>TGT		inositol 1,4,5-triphosphate receptor interacting		G		0,4406		0,0,2203	47.0	48.0	48.0		771	-2.4	0.9	10		48	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITPRIP	NM_033397.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		257/548	106075039	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106075039G>A	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.771C>T	10.37:g.106075039G>A						ITPRIP_uc001kyf.2_Silent_p.C257C|ITPRIP_uc001kyg.2_Silent_p.C257C	p.C257C	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN			2	844	-			257					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.771C>T	CCDS7557.1																																																																																				0.647	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		24	51	0	0	0	0	24	51				
COPB1	1315	broad.mit.edu	37	11	14490304	14490304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:14490304G>A	ENST00000249923.3	-	16	2368	c.2068C>T	c.(2068-2070)Cag>Tag	p.Q690*	COPB1_ENST00000439561.2_Nonsense_Mutation_p.Q690*	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	690					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAACTCAGCTGAAACTGATCT	0.423																																						uc001mli.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2068-2070)CAG>TAG		coatomer protein complex, subunit beta 1							204.0	182.0	189.0					11																	14490304		2200	4294	6494	SO:0001587	stop_gained	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14490304G>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2068C>T	11.37:g.14490304G>A	ENSP00000249923:p.Gln690*					COPB1_uc001mlg.2_Nonsense_Mutation_p.Q690*|COPB1_uc001mlh.2_Nonsense_Mutation_p.Q690*	p.Q690*	NM_016451	NP_057535	P53618	COPB_HUMAN			16	2375	-			690					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Nonsense_Mutation	SNP	ENST00000249923.3	37	c.2068C>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	41	8.908086	0.98998	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.0156	0.92892	0.0:0.0:1.0:0.0	.	.	.	.	X	690	.	ENSP00000249923:Q690X	Q	-	1	0	COPB1	14446880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.500000	0.97977	2.498000	0.84270	0.655000	0.94253	CAG		0.423	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		18	149	0	0	0	0	18	149				
ELP4	26610	broad.mit.edu	37	11	31805046	31805046	+	Missense_Mutation	SNP	G	G	A	rs3026403		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:31805046G>A	ENST00000350638.5	+	10	1284	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	ELP4_ENST00000379163.5_Missense_Mutation_p.R464Q|ELP4_ENST00000395934.2_3'UTR|Z83307.3_ENST00000606377.1_lincRNA	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	417					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					CATGATGGCCGGAGGCAAGAA	0.498																																						uc001mtb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(1249-1251)GGA>AGA		elongation protein 4 homolog							59.0	68.0	65.0					11																	31805046		1941	4139	6080	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31805046G>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.1249G>A	11.37:g.31805046G>A	ENSP00000298937:p.Gly417Arg					ELP4_uc001mtc.2_3'UTR|ELP4_uc010rdz.1_Missense_Mutation_p.R464Q	p.G417R	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			10	1284	+	Lung SC(675;0.225)		417					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.1249G>A	CCDS7875.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.22|18.22	3.575195|3.575195	0.65878|0.65878	.|.	.|.	ENSG00000109911|ENSG00000109911	ENST00000350638|ENST00000379163	T|T	0.41758|0.43688	0.99|0.94	5.73|5.73	0.681|0.681	0.17986|0.17986	.|.	.|.	.|.	.|.	.|.	T|T	0.34366|0.34366	0.0895|0.0895	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	B|B	0.17268|0.16802	0.021|0.019	B|B	0.12837|0.04013	0.008|0.001	T|T	0.19192|0.19192	-1.0313|-1.0313	9|9	0.33940|0.87932	T|D	0.23|0	.|.	5.652|5.652	0.17622|0.17622	0.3912:0.1362:0.4726:0.0|0.3912:0.1362:0.4726:0.0	.|.	417|464	Q96EB1|B4E3W0	ELP4_HUMAN|.	R|Q	417|464	ENSP00000298937:G417R|ENSP00000368461:R464Q	ENSP00000298937:G417R|ENSP00000368461:R464Q	G|R	+|+	1|2	0|0	ELP4|ELP4	31761622|31761622	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	1.254000|1.254000	0.32897|0.32897	0.156000|0.156000	0.19299|0.19299	0.557000|0.557000	0.71058|0.71058	GGA|CGG		0.498	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		3	74	0	0	0	0	3	74				
OR4A15	81328	broad.mit.edu	37	11	55135812	55135812	+	Nonsense_Mutation	SNP	C	C	A	rs199792741		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:55135812C>A	ENST00000314706.3	+	1	453	c.453C>A	c.(451-453)taC>taA	p.Y151*		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGATCGATACATGGCCATCT	0.438																																						uc010rif.1		NA																	0				ovary(1)|skin(1)	2						c.(451-453)TAC>TAA		olfactory receptor, family 4, subfamily A,							208.0	193.0	198.0					11																	55135812		2201	4296	6497	SO:0001587	stop_gained	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135812C>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.453C>A	11.37:g.55135812C>A	ENSP00000325065:p.Tyr151*						p.Y151*	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	453	+			151			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Nonsense_Mutation	SNP	ENST00000314706.3	37	c.453C>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	11.13	1.548456	0.27652	.	.	ENSG00000181958	ENST00000314706	.	.	.	3.48	0.967	0.19674	.	0.000000	0.45606	D	0.000360	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1157	0.20126	0.0:0.2635:0.0:0.7365	.	.	.	.	X	151	.	ENSP00000325065:Y151X	Y	+	3	2	OR4A15	54892388	0.000000	0.05858	0.723000	0.30687	0.351000	0.29236	-2.199000	0.01238	-0.018000	0.14079	0.492000	0.49549	TAC		0.438	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		35	154	1	0	4.32e-19	4.81e-19	35	154				
OR5AS1	219447	broad.mit.edu	37	11	55798369	55798369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:55798369C>T	ENST00000313555.1	+	1	475	c.475C>T	c.(475-477)Cat>Tat	p.H159Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATCACTGGTCCATGTGTGCCT	0.438																																						uc010riw.1		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.(475-477)CAT>TAT		olfactory receptor, family 5, subfamily AS,							258.0	235.0	243.0					11																	55798369		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798369C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.475C>T	11.37:g.55798369C>T	ENSP00000324111:p.His159Tyr						p.H159Y	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	475	+	Esophageal squamous(21;0.00693)		159			Extracellular (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.475C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867431	0.32977	.	.	ENSG00000181785	ENST00000313555	T	0.00267	8.38	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35772	U	0.002988	T	0.00356	0.0011	M	0.72624	2.21	0.09310	N	1	D	0.53619	0.961	P	0.51324	0.666	T	0.53676	-0.8405	10	0.66056	D	0.02	.	11.375	0.49722	0.0:0.916:0.0:0.084	.	159	Q8N127	O5AS1_HUMAN	Y	159	ENSP00000324111:H159Y	ENSP00000324111:H159Y	H	+	1	0	OR5AS1	55554945	0.006000	0.16342	0.059000	0.19551	0.220000	0.24768	-0.090000	0.11163	2.557000	0.86248	0.643000	0.83706	CAT		0.438	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		66	107	0	0	0	0	66	107				
TMEM258	746	broad.mit.edu	37	11	61558011	61558011	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:61558011C>T	ENST00000537328.1	-	2	118	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	TMEM258_ENST00000543510.1_Missense_Mutation_p.V18M|FADS2_ENST00000574708.1_5'Flank|FEN1_ENST00000305885.2_5'Flank|TMEM258_ENST00000535042.1_5'UTR|MIR611_ENST00000384869.1_RNA	NM_014206.3	NP_055021.1	P61165	TM258_HUMAN	transmembrane protein 258	23						integral component of membrane (GO:0016021)											AAAAGCACCACGGTCAGATGG	0.527																																						uc001nsf.2		NA																	0				breast(1)	1						c.(67-69)GTG>ATG		hypothetical protein LOC746							128.0	94.0	105.0					11																	61558011		2202	4299	6501	SO:0001583	missense	746					integral to membrane		g.chr11:61558011C>T		CCDS8009.1	11q12.2	2012-12-03	2012-12-03	2012-12-03	ENSG00000134825	ENSG00000134825			1164	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 10"""	C11orf10		12427278	Standard	NM_014206		Approved		uc001nsf.3	P61165	OTTHUMG00000168172	ENST00000537328.1:c.67G>A	11.37:g.61558011C>T	ENSP00000443216:p.Val23Met					FEN1_uc001nsg.2_5'Flank	p.V23M	NM_014206	NP_055021	P61165	CK010_HUMAN			2	122	-			23			Helical; (Potential).		A8K6L8|Q9D953|Q9Y2Q7	Missense_Mutation	SNP	ENST00000537328.1	37	c.67G>A	CCDS8009.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832171	0.50845	.	.	ENSG00000134825	ENST00000537328;ENST00000543510	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	.	.	.	0.80722	D	1	P	0.34800	0.469	B	0.25140	0.058	T	0.43163	-0.9408	8	0.33141	T	0.24	.	19.7077	0.96081	0.0:1.0:0.0:0.0	.	23	P61165	CK010_HUMAN	M	23;18	.	ENSP00000257262:V23M	V	-	1	0	C11orf10	61314587	1.000000	0.71417	0.932000	0.37286	0.603000	0.37013	7.479000	0.81095	2.733000	0.93635	0.655000	0.94253	GTG		0.527	TMEM258-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398577.1	NM_014206		8	13	0	0	0	0	8	13				
CCDC88B	283234	broad.mit.edu	37	11	64120247	64120247	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64120247G>A	ENST00000356786.5	+	20	3432	c.3388G>A	c.(3388-3390)Gtg>Atg	p.V1130M	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.V282M|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1130						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGGGCCAGCGTGGAGGCACA	0.657																																						uc001nzy.2		NA																	0				ovary(3)|skin(1)	4						c.(3388-3390)GTG>ATG		coiled-coil domain containing 88							28.0	32.0	31.0					11																	64120247		2199	4291	6490	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120247G>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3388G>A	11.37:g.64120247G>A	ENSP00000349238:p.Val1130Met					CCDC88B_uc009ypo.1_Missense_Mutation_p.V1127M|CCDC88B_uc001oaa.2_Missense_Mutation_p.V282M|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank	p.V1130M	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			20	3432	+			1130			Potential.		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3388G>A	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	16.78	3.218486	0.58560	.	.	ENSG00000168071	ENST00000356786;ENST00000359902	T;T	0.48522	1.83;0.81	3.95	0.953	0.19590	.	.	.	.	.	T	0.47875	0.1469	L	0.41236	1.265	0.80722	D	1	D;D;D	0.76494	0.982;0.999;0.982	B;D;P	0.63192	0.379;0.912;0.474	T	0.49532	-0.8930	9	0.62326	D	0.03	.	2.0405	0.03549	0.1159:0.2008:0.4765:0.2069	.	1130;266;1130	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	M	1130;282	ENSP00000349238:V1130M;ENSP00000352974:V282M	ENSP00000349238:V1130M	V	+	1	0	CCDC88B	63876823	0.112000	0.22096	0.889000	0.34880	0.990000	0.78478	0.259000	0.18405	0.428000	0.26173	0.462000	0.41574	GTG		0.657	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		4	63	0	0	0	0	4	63				
ATG2A	23130	broad.mit.edu	37	11	64678743	64678743	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64678743C>T	ENST00000377264.3	-	10	1345	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	ATG2A_ENST00000421419.2_Silent_p.K411K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	411					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGGGGCCATCTTGCCTGAGG	0.632																																						uc001obx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1231-1233)AAG>AAA		autophagy related 2A							58.0	62.0	61.0					11																	64678743		2201	4297	6498	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64678743C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1233G>A	11.37:g.64678743C>T							p.K411K	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			10	1348	-			411					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.1233G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	3.197	-0.164624	0.06502	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55231	-0.8173	4	.	.	.	.	8.8633	0.35272	0.0:0.9:0.0:0.1	.	.	.	.	N	213	.	.	D	-	1	0	ATG2A	64435319	0.978000	0.34361	0.995000	0.50966	0.361000	0.29550	1.252000	0.32874	2.593000	0.87608	0.561000	0.74099	GAT		0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		28	46	0	0	0	0	28	46				
NAALADL1	10004	broad.mit.edu	37	11	64825688	64825688	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:64825688G>A	ENST00000358658.3	-	2	247	c.220C>T	c.(220-222)Cct>Tct	p.P74S	NAALADL1_ENST00000339885.2_Missense_Mutation_p.P74S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P74S|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P74S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P74S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P74S	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCATCCCGAGGGCTGGAGGCC	0.677																																						uc001ocn.2		NA																	0					0						c.(220-222)CCT>TCT		N-acetylated alpha-linked acidic							20.0	20.0	20.0					11																	64825688		2201	4296	6497	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825688G>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.220C>T	11.37:g.64825688G>A	ENSP00000351484:p.Pro74Ser					NAALADL1_uc010rnw.1_5'UTR	p.P74S	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			2	236	-			74			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.220C>T	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	G	9.763	1.170635	0.21621	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	4.4	2.44	0.29823	.	0.373325	0.29362	N	0.012362	T	0.28499	0.0705	L	0.47716	1.5	0.26710	N	0.970998	B	0.15141	0.012	B	0.14023	0.01	T	0.09271	-1.0682	10	0.23891	T	0.37	-13.5251	3.347	0.07139	0.0977:0.1696:0.558:0.1746	.	74	Q9UQQ1	NALDL_HUMAN	S	74	ENSP00000351484:P74S;ENSP00000347530:P74S;ENSP00000340111:P74S;ENSP00000344244:P74S;ENSP00000347955:P74S;ENSP00000349045:P74S	ENSP00000340111:P74S	P	-	1	0	NAALADL1	64582264	0.010000	0.17322	0.460000	0.27093	0.664000	0.39144	-0.017000	0.12590	1.059000	0.40554	0.561000	0.74099	CCT		0.677	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		5	40	0	0	0	0	5	40				
LRP5	4041	broad.mit.edu	37	11	68131338	68131338	+	Silent	SNP	G	G	A	rs80358307		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:68131338G>A	ENST00000294304.7	+	4	916	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	270	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGGGAAGAGGAAGGAGA	0.652																																						uc001ont.2		NA																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(808-810)AAG>AAA		low density lipoprotein receptor-related protein							52.0	44.0	47.0					11																	68131338		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68131338G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.810G>A	11.37:g.68131338G>A						LRP5_uc009ysg.2_5'UTR	p.K270K	NM_002335	NP_002326	O75197	LRP5_HUMAN			4	885	+			270			LDL-receptor class B 5.|Beta-propeller 1.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.810G>A	CCDS8181.1																																																																																				0.652	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		7	63	0	0	0	0	7	63				
CTTN	2017	broad.mit.edu	37	11	70281261	70281261	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:70281261G>A	ENST00000301843.8	+	18	1852	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Missense_Mutation_p.R512Q|CTTN_ENST00000376561.3_Intron	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	549	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GTGGAGCTGCGGCAGTAGGGC	0.597																																						uc001opv.3		NA																	0				ovary(1)	1						c.(1645-1647)CGG>CAG		cortactin isoform a							29.0	28.0	28.0					11																	70281261		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70281261G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1646G>A	11.37:g.70281261G>A	ENSP00000301843:p.Arg549Gln					CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Missense_Mutation_p.R512Q|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_Missense_Mutation_p.R233Q	p.R549Q	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	1852	+			549			SH3.		Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.1646G>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923369	0.73213	.	.	ENSG00000085733	ENST00000346329;ENST00000301843	T;T	0.30182	1.56;1.54	5.82	5.82	0.92795	Src homology-3 domain (4);	.	.	.	.	T	0.36220	0.0959	N	0.05306	-0.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.926	T	0.40646	-0.9552	9	0.29301	T	0.29	.	20.0989	0.97860	0.0:0.0:1.0:0.0	.	512;549	Q96H99;Q14247	.;SRC8_HUMAN	Q	512;549	ENSP00000317189:R512Q;ENSP00000301843:R549Q	ENSP00000301843:R549Q	R	+	2	0	CTTN	69958909	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	9.115000	0.94336	2.740000	0.93945	0.655000	0.94253	CGG		0.597	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		11	36	0	0	0	0	11	36				
MAP6	4135	broad.mit.edu	37	11	75299192	75299192	+	Nonsense_Mutation	SNP	G	G	A	rs375115786		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:75299192G>A	ENST00000304771.3	-	4	2104	c.1354C>T	c.(1354-1356)Caa>Taa	p.Q452*	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Nonsense_Mutation_p.Q123*|MAP6_ENST00000526689.1_5'UTR	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	452					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACAGGACCTTGAGTCTTACTT	0.537																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	uc001owu.2		NA																	0					0						c.(1354-1356)CAA>TAA		microtubule-associated protein 6 isoform 1		G	stop/GLN	0,4400		0,0,2200	61.0	63.0	62.0		1354	4.0	0.0	11		62	1,8585	1.2+/-3.3	0,1,4292	no	stop-gained	MAP6	NM_033063.1		0,1,6492	AA,AG,GG		0.0116,0.0,0.0077		452/814	75299192	1,12985	2200	4293	6493	SO:0001587	stop_gained	4135					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	g.chr11:75299192G>A	AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1354C>T	11.37:g.75299192G>A	ENSP00000307093:p.Gln452*						p.Q452*	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN			4	1419	-	Ovarian(111;0.11)		452					A7E2A1|Q6P3T0|Q6ZWB8	Nonsense_Mutation	SNP	ENST00000304771.3	37	c.1354C>T	CCDS31641.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910406	0.92107	0.0	1.16E-4	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476	.	.	.	5.93	4.02	0.46733	.	1.359770	0.04906	N	0.452325	.	.	.	.	.	.	0.21020	N	0.999807	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	1.5286	6.6899	0.23165	0.0873:0.0:0.7348:0.1779	.	.	.	.	X	452;123;123	.	ENSP00000307093:Q452X	Q	-	1	0	MAP6	74976840	0.661000	0.27430	0.038000	0.18304	0.933000	0.57130	3.242000	0.51384	1.474000	0.48178	0.655000	0.94253	CAA		0.537	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383527.1	NM_033063		16	53	0	0	0	0	16	53				
INTS4	92105	broad.mit.edu	37	11	77590009	77590009	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:77590009G>C	ENST00000534064.1	-	23	2912	c.2878C>G	c.(2878-2880)Cct>Gct	p.P960A	AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000304716.8_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.P335A|AAMDC_ENST00000527134.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	960					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CGCCGTGCAGGTTTGGGCATT	0.527																																						uc001oys.2		NA																	0				ovary(2)	2						c.(2878-2880)CCT>GCT		integrator complex subunit 4							159.0	154.0	156.0					11																	77590009		2200	4292	6492	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77590009G>C	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2878C>G	11.37:g.77590009G>C	ENSP00000434466:p.Pro960Ala					C11orf67_uc001oyp.2_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.2_RNA	p.P960A	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		23	2906	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		960					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.2878C>G	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850036	0.91277	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	5.58	5.58	0.84498	.	0.050056	0.85682	D	0.000000	T	0.44008	0.1273	N	0.08118	0	0.80722	D	1	P	0.52463	0.953	P	0.47603	0.551	T	0.53107	-0.8485	9	0.66056	D	0.02	-17.2042	19.769	0.96353	0.0:0.0:1.0:0.0	.	960	Q96HW7	INT4_HUMAN	A	960;335	.	ENSP00000434466:P960A	P	-	1	0	INTS4	77267657	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	8.785000	0.91822	2.906000	0.99361	0.655000	0.94253	CCT		0.527	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		8	76	0	0	0	0	8	76				
CCDC89	220388	broad.mit.edu	37	11	85396236	85396236	+	Missense_Mutation	SNP	C	C	T	rs570614928		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr11:85396236C>T	ENST00000316398.3	-	1	1084	c.938G>A	c.(937-939)cGg>cAg	p.R313Q	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	313						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTGCTCAAACCGCTCCAGCGC	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		23204	0.001		0.0	False		,,,				2504	0.0					uc001pau.1		NA																	0					0						c.(937-939)CGG>CAG		coiled-coil domain containing 89							144.0	112.0	123.0					11																	85396236		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396236C>T	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.938G>A	11.37:g.85396236C>T	ENSP00000320649:p.Arg313Gln						p.R313Q	NM_152723	NP_689936	Q8N998	CCD89_HUMAN			1	1085	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	313			Potential.			Missense_Mutation	SNP	ENST00000316398.3	37	c.938G>A	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812782	0.70912	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	6.06	0.98353	.	0.054965	0.64402	D	0.000002	T	0.62282	0.2415	M	0.62723	1.935	0.43622	D	0.996008	D	0.57257	0.979	P	0.47827	0.558	T	0.61992	-0.6948	8	.	.	.	-19.8357	15.7203	0.77705	0.0:0.9332:0.0:0.0668	.	313	Q8N998	CCD89_HUMAN	Q	313	.	.	R	-	2	0	CCDC89	85073884	0.987000	0.35691	0.982000	0.44146	0.617000	0.37484	2.696000	0.47052	2.882000	0.98803	0.655000	0.94253	CGG		0.512	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		14	51	0	0	0	0	14	51				
CRACR2A	84766	broad.mit.edu	37	12	3757747	3757747	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:3757747C>T	ENST00000252322.1	-	11	1547	c.1079G>A	c.(1078-1080)cGt>cAt	p.R360H	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.R360H|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.R360H	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		360					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGCCTTCTCACGCTGTAGACT	0.622																																						uc001qmj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1078-1080)CGT>CAT		EF-hand calcium binding domain 4B isoform c							54.0	46.0	49.0					12																	3757747		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3757747C>T																												ENST00000252322.1:c.1079G>A	12.37:g.3757747C>T	ENSP00000252322:p.Arg360His					EFCAB4B_uc010sen.1_Missense_Mutation_p.R360H|EFCAB4B_uc010seo.1_Missense_Mutation_p.R360H|EFCAB4B_uc001qmi.1_RNA	p.R360H	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		11	1651	-			360			Potential.		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.1079G>A	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	c	24.4	4.523593	0.85600	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.23552	1.9;2.5;2.47	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	L	0.58101	1.795	0.41722	D	0.98951	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	T	0.48927	-0.8991	10	0.66056	D	0.02	-27.5887	15.8689	0.79091	0.0:1.0:0.0:0.0	.	360;360;360	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	H	360	ENSP00000409382:R360H;ENSP00000412496:R360H;ENSP00000252322:R360H	ENSP00000252322:R360H	R	-	2	0	EFCAB4B	3628008	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	6.324000	0.72896	2.330000	0.79161	0.550000	0.68814	CGT		0.622	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			5	36	0	0	0	0	5	36				
VWF	7450	broad.mit.edu	37	12	6135131	6135131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6135131C>T	ENST00000261405.5	-	23	3303	c.3049G>A	c.(3049-3051)Gac>Aac	p.D1017N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1017	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCACAGGGTCTTCCTCCACT	0.527																																						uc001qnn.1		NA																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(3049-3051)GAC>AAC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						94.0	88.0	90.0					12																	6135131		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6135131C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3049G>A	12.37:g.6135131C>T	ENSP00000261405:p.Asp1017Asn					VWF_uc010set.1_Intron	p.D1017N	NM_000552	NP_000543	P04275	VWF_HUMAN			23	3299	-			1017			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3049G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491361	0.44249	.	.	ENSG00000110799	ENST00000261405	T	0.35236	1.32	4.84	2.06	0.26882	von Willebrand factor, type D domain (1);	0.318283	0.22716	N	0.056517	T	0.25494	0.0620	L	0.37697	1.125	0.80722	D	1	B	0.16603	0.018	B	0.15052	0.012	T	0.04946	-1.0916	10	0.29301	T	0.29	.	9.1156	0.36755	0.0:0.7637:0.0:0.2363	.	1017	P04275	VWF_HUMAN	N	1017	ENSP00000261405:D1017N	ENSP00000261405:D1017N	D	-	1	0	VWF	6005392	0.993000	0.37304	0.405000	0.26409	0.799000	0.45148	2.980000	0.49321	0.266000	0.21894	0.561000	0.74099	GAC		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		13	63	0	0	0	0	13	63				
CHD4	1108	broad.mit.edu	37	12	6688057	6688057	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6688057C>T	ENST00000357008.2	-	34	5099	c.4936G>A	c.(4936-4938)Gaa>Aaa	p.E1646K	CHD4_ENST00000544040.1_Missense_Mutation_p.E1639K|CHD4_ENST00000309577.6_Missense_Mutation_p.E1674K|CHD4_ENST00000544484.1_Missense_Mutation_p.E1671K|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1646	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GCTGACTTTTCCTCCACCTTC	0.413																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.(4936-4938)GAA>AAA		chromodomain helicase DNA binding protein 4							158.0	134.0	142.0					12																	6688057		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6688057C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4936G>A	12.37:g.6688057C>T	ENSP00000349508:p.Glu1646Lys					CHD4_uc001qpn.2_Missense_Mutation_p.E1639K|CHD4_uc001qpp.2_Missense_Mutation_p.E1671K|uc001qpq.1_Intron	p.E1646K	NM_001273	NP_001264	Q14839	CHD4_HUMAN			34	5100	-			1646			Required for interaction with PCNT.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4936G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070129	0.55539	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90732	-2.71;-2.7;-2.72;-2.7	5.7	5.7	0.88788	.	0.270944	0.36200	N	0.002729	D	0.86543	0.5958	L	0.49350	1.555	0.49389	D	0.999781	B;P;P	0.37330	0.0;0.455;0.59	B;B;B	0.30105	0.003;0.052;0.111	D	0.84701	0.0728	10	0.21540	T	0.41	.	17.6119	0.88056	0.0:1.0:0.0:0.0	.	1674;1646;1639	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	K	1671;1639;1674;1646;1620	ENSP00000440392:E1671K;ENSP00000440542:E1639K;ENSP00000312419:E1674K;ENSP00000349508:E1646K	ENSP00000312419:E1674K	E	-	1	0	CHD4	6558318	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	3.112000	0.50368	2.703000	0.92315	0.655000	0.94253	GAA		0.413	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		6	24	0	0	0	0	6	24				
CHD4	1108	broad.mit.edu	37	12	6690555	6690555	+	Splice_Site	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6690555C>G	ENST00000357008.2	-	32	4845		c.e32-1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544484.1_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						ATCCCATCTTCTGCAGAACAA	0.403																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	0				central_nervous_system(2)	2						c.e32-1		chromodomain helicase DNA binding protein 4							139.0	135.0	136.0					12																	6690555		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690555C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4682-1G>C	12.37:g.6690555C>G						CHD4_uc001qpn.2_Splice_Site_p.E1554_splice|CHD4_uc001qpp.2_Splice_Site_p.E1586_splice|uc001qpq.1_Intron	p.E1561_splice	NM_001273	NP_001264	Q14839	CHD4_HUMAN			32	4846	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37	c.4682_splice	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399281	0.62177	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3222	0.90242	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6560816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.823000	0.55715	2.836000	0.97738	0.655000	0.94253	.		0.403	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	5	67	0	0	0	0	5	67				
TPI1	7167	broad.mit.edu	37	12	6979473	6979473	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:6979473G>A	ENST00000229270.4	+	7	1124	c.787G>A	c.(787-789)Gat>Aat	p.D263N	TPI1_ENST00000488464.2_Missense_Mutation_p.D144N|TPI1_ENST00000396705.5_Missense_Mutation_p.D226N|TPI1_ENST00000535434.1_Missense_Mutation_p.D144N	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	263					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAGCCAGCCTGATGTGGATGG	0.572											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrk.2		NA																	0					0						c.(676-678)GAT>AAT		triosephosphate isomerase 1 isoform 1							79.0	69.0	72.0					12																	6979473		2203	4300	6503	SO:0001583	missense	7167				fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	g.chr12:6979473G>A		CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.787G>A	12.37:g.6979473G>A	ENSP00000229270:p.Asp263Asn		OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	TPI1_uc010sfo.1_Missense_Mutation_p.D144N	p.D226N	NM_000365	NP_000356	P60174	TPIS_HUMAN			7	714	+			226					B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	c.676G>A	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081991	0.94050	.	.	ENSG00000111669	ENST00000229270;ENST00000396705;ENST00000535434	D;D;D	0.94687	-3.49;-3.49;-3.49	5.29	5.29	0.74685	.	0.000000	0.85682	U	0.000000	D	0.96479	0.8851	M	0.82433	2.59	0.80722	D	1	D	0.57571	0.98	P	0.53360	0.724	D	0.97060	0.9770	10	0.87932	D	0	.	18.553	0.91072	0.0:0.0:1.0:0.0	.	263	P60174	TPIS_HUMAN	N	263;226;144	ENSP00000229270:D263N;ENSP00000379933:D226N;ENSP00000443599:D144N	ENSP00000229270:D263N	D	+	1	0	TPI1	6849734	1.000000	0.71417	0.954000	0.39281	0.973000	0.67179	9.837000	0.99465	2.478000	0.83669	0.561000	0.74099	GAT		0.572	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1	NM_000365		9	24	0	0	0	0	9	24				
PZP	5858	broad.mit.edu	37	12	9349219	9349219	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:9349219C>T	ENST00000261336.2	-	9	958	c.930G>A	c.(928-930)acG>acA	p.T310T	PZP_ENST00000381997.2_Silent_p.T179T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	310					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						TTTCAAAGCCCGTATTTGTAA	0.393													C|||	2	0.000399361	0.0015	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0				Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(928-930)ACG>ACA		pregnancy-zone protein precursor							142.0	141.0	141.0					12																	9349219		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9349219C>T	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.930G>A	12.37:g.9349219C>T						PZP_uc009zgl.2_Silent_p.T179T	p.T310T	NM_002864	NP_002855					9	959	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.930G>A	CCDS8600.1																																																																																				0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		13	70	0	0	0	0	13	70				
BCL2L14	79370	broad.mit.edu	37	12	12232347	12232347	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:12232347C>G	ENST00000308721.5	+	2	314	c.108C>G	c.(106-108)ttC>ttG	p.F36L	BCL2L14_ENST00000589718.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000396367.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000266434.4_Missense_Mutation_p.F36L|BCL2L14_ENST00000396369.1_Missense_Mutation_p.F36L|BCL2L14_ENST00000586576.1_Missense_Mutation_p.F69L	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	36					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		ATCATGTCTTCAAGAGCACCC	0.493																																						uc001rac.2		NA																	0				skin(1)	1						c.(106-108)TTC>TTG		BCL2-like 14 isoform 1							106.0	95.0	99.0					12																	12232347		2203	4300	6503	SO:0001583	missense	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12232347C>G	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.108C>G	12.37:g.12232347C>G	ENSP00000309132:p.Phe36Leu					ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_RNA|BCL2L14_uc001rad.2_Missense_Mutation_p.F36L|BCL2L14_uc001rae.2_Missense_Mutation_p.F36L	p.F36L	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	2	309	+		Prostate(47;0.0872)	36					A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	c.108C>G	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802768	0.50315	.	.	ENSG00000121380	ENST00000464885;ENST00000461264;ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	4.11	4.11	0.48088	.	0.268852	0.29646	N	0.011570	T	0.69735	0.3144	M	0.73962	2.25	0.32800	N	0.500038	P;D	0.71674	0.703;0.998	B;D	0.80764	0.276;0.994	T	0.77487	-0.2569	9	0.87932	D	0	-13.4933	12.1533	0.54062	0.0:1.0:0.0:0.0	.	36;36	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	L	36;39;36;36;36;36	.	ENSP00000266434:F36L	F	+	3	2	BCL2L14	12123614	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	1.878000	0.39608	2.590000	0.87494	0.563000	0.77884	TTC		0.493	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		13	38	0	0	0	0	13	38				
PPFIBP1	8496	broad.mit.edu	37	12	27841992	27841992	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:27841992G>A	ENST00000318304.8	+	26	2842	c.2559G>A	c.(2557-2559)ttG>ttA	p.L853L	PPFIBP1_ENST00000228425.6_Silent_p.L847L|PPFIBP1_ENST00000537927.1_Silent_p.L700L|PPFIBP1_ENST00000542629.1_Silent_p.L822L	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	853	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCAGTTATTGAACATCCCAC	0.418																																						uc001ric.1		NA																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(2557-2559)TTG>TTA		PTPRF interacting protein binding protein 1							117.0	104.0	109.0					12																	27841992		2203	4300	6503	SO:0001819	synonymous_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27841992G>A	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.2559G>A	12.37:g.27841992G>A						PPFIBP1_uc010sjr.1_Silent_p.L684L|PPFIBP1_uc001rib.1_Silent_p.L847L|PPFIBP1_uc001ria.2_Silent_p.L822L|PPFIBP1_uc001rid.1_Silent_p.L700L|PPFIBP1_uc001rif.1_Silent_p.L360L	p.L853L	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			26	2936	+	Lung SC(9;0.0873)		853			SAM 3.		O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	c.2559G>A	CCDS55812.1																																																																																				0.418	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		10	68	0	0	0	0	10	68				
ANO6	196527	broad.mit.edu	37	12	45810577	45810577	+	Missense_Mutation	SNP	G	G	A	rs202121654		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:45810577G>A	ENST00000320560.8	+	17	2309	c.2107G>A	c.(2107-2109)Gca>Aca	p.A703T	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.A703T|ANO6_ENST00000441606.2_Missense_Mutation_p.A685T|ANO6_ENST00000425752.2_Missense_Mutation_p.A703T|ANO6_ENST00000423947.3_Missense_Mutation_p.A724T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	703					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAGAGTGGACGCATGGAAACT	0.483																																						uc001roo.2		NA																	0				ovary(1)|kidney(1)	2						c.(2107-2109)GCA>ACA		anoctamin 6 isoform a							124.0	107.0	113.0					12																	45810577		2203	4300	6503	SO:0001583	missense	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45810577G>A	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2107G>A	12.37:g.45810577G>A	ENSP00000320087:p.Ala703Thr					ANO6_uc010sld.1_Missense_Mutation_p.A703T|ANO6_uc010sle.1_Missense_Mutation_p.A703T|ANO6_uc010slf.1_Missense_Mutation_p.A724T|ANO6_uc010slg.1_Missense_Mutation_p.A685T	p.A703T	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			17	2442	+			703			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	c.2107G>A	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215544	0.95104	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.72	4.84	0.62591	.	0.056069	0.64402	D	0.000001	D	0.85758	0.5771	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	0.998;0.982;1.0;1.0	P;P;D;D	0.73708	0.869;0.866;0.919;0.981	D	0.89798	0.3973	10	0.87932	D	0	.	15.1322	0.72533	0.0679:0.0:0.9321:0.0	.	685;724;703;703	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	T	703;724;703;703;685	ENSP00000391417:A703T;ENSP00000409126:A724T;ENSP00000413840:A703T;ENSP00000320087:A703T;ENSP00000413137:A685T	ENSP00000320087:A703T	A	+	1	0	ANO6	44096844	1.000000	0.71417	0.036000	0.18154	0.955000	0.61496	6.708000	0.74660	1.581000	0.49865	0.650000	0.86243	GCA		0.483	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		9	28	0	0	0	0	9	28				
COL2A1	1280	broad.mit.edu	37	12	48367873	48367873	+	Splice_Site	SNP	G	G	A	rs121912886		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:48367873G>A	ENST00000380518.3	-	53	4480	c.4316C>T	c.(4315-4317)aCg>aTg	p.T1439M	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.T1370M	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1439	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.		T -> M (in SEDC). {ECO:0000269|PubMed:11746045}.		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCACTCACCGTGCAGCCATC	0.617																																						uc001rqu.2		NA																	0				ovary(1)|skin(1)	2	GRCh37	CM014699	COL2A1	M	rs121912886	c.(4315-4317)ACG>ATG		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						73.0	67.0	69.0					12																	48367873		2203	4300	6503	SO:0001630	splice_region_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48367873G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4317+1C>T	12.37:g.48367873G>A						COL2A1_uc001rqt.2_Missense_Mutation_p.T220M|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.T1370M	p.T1439M	NM_001844	NP_001835	P02458	CO2A1_HUMAN			53	4497	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1439		T -> M (in SEDC).	Fibrillar collagen NC1.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.4316C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085833	0.55861	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.73897	-0.79;-0.79	5.06	5.06	0.68205	Fibrillar collagen, C-terminal (4);	0.125896	0.52532	D	0.000080	T	0.79936	0.4532	M	0.73430	2.235	0.49130	D	0.999756	D;D	0.58620	0.979;0.983	P;P	0.51266	0.534;0.664	T	0.83039	-0.0158	10	0.87932	D	0	.	13.3694	0.60705	0.0:0.0:0.8423:0.1577	.	1370;1439	P02458-1;P02458	.;CO2A1_HUMAN	M	1439;1370;1370	ENSP00000369889:T1439M;ENSP00000338213:T1370M	ENSP00000338213:T1370M	T	-	2	0	COL2A1	46654140	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.522000	0.53480	2.500000	0.84329	0.655000	0.94253	ACG		0.617	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	Missense_Mutation	7	52	0	0	0	0	7	52				
LIMA1	51474	broad.mit.edu	37	12	50616056	50616056	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:50616056G>A	ENST00000341247.4	-	4	527	c.378C>T	c.(376-378)ccC>ccT	p.P126P	LIMA1_ENST00000394943.3_Silent_p.P126P|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552909.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	126					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GTCTAGATCTGGGGTGGATTT	0.512																																						uc001rwj.3		NA																	0				ovary(1)	1						c.(376-378)CCC>CCT		LIM domain and actin binding 1 isoform b							217.0	155.0	176.0					12																	50616056		2203	4300	6503	SO:0001819	synonymous_variant	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50616056G>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.378C>T	12.37:g.50616056G>A						LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Silent_p.P126P|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.P126P	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			4	552	-			126					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Silent	SNP	ENST00000341247.4	37	c.378C>T	CCDS8802.1																																																																																				0.512	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		11	60	0	0	0	0	11	60				
KRT79	338785	broad.mit.edu	37	12	53227934	53227934	+	Silent	SNP	C	C	T	rs373619417		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:53227934C>T	ENST00000330553.5	-	1	145	c.111G>A	c.(109-111)acG>acA	p.T37T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	37	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAGACACCGTCACTGAGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		14237	0.001		0.0	False		,,,				2504	0.0					uc001sbb.2		NA																	0				ovary(2)|skin(2)	4						c.(109-111)ACG>ACA		keratin 6L		C		1,4403	2.1+/-5.4	0,1,2201	35.0	38.0	37.0		111	-8.0	0.0	12		37	0,8596		0,0,4298	no	coding-synonymous	KRT79	NM_175834.2		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		37/536	53227934	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53227934C>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.111G>A	12.37:g.53227934C>T							p.T37T	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	144	-			37			Head.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.111G>A	CCDS8839.1																																																																																				0.637	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		5	53	0	0	0	0	5	53				
NAV3	89795	broad.mit.edu	37	12	78531084	78531084	+	Silent	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:78531084T>G	ENST00000397909.2	+	19	4742	c.4569T>G	c.(4567-4569)tcT>tcG	p.S1523S	NAV3_ENST00000228327.6_Silent_p.S1523S|NAV3_ENST00000266692.7_Silent_p.S1346S|NAV3_ENST00000536525.2_Silent_p.S1523S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1523	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGCCACTTCTCTGGAGGAAA	0.512										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4567-4569)TCT>TCG		neuron navigator 3							91.0	90.0	90.0					12																	78531084		1932	4142	6074	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78531084T>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4569T>G	12.37:g.78531084T>G		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.S1523S|NAV3_uc010sub.1_Silent_p.S1009S|NAV3_uc009zsf.2_Silent_p.S354S	p.S1523S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			19	4742	+			1523			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.4569T>G		.	.	.	.	.	.	.	.	.	.	T	8.888	0.953377	0.18431	.	.	ENSG00000067798	ENST00000552895	T	0.19105	2.17	5.87	2.16	0.27623	.	0.000000	0.40064	U	0.001200	T	0.33000	0.0848	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03555	-1.1025	7	0.87932	D	0	-14.3597	9.2199	0.37370	0.0:0.3364:0.0:0.6636	.	.	.	.	A	418	ENSP00000446644:S418A	ENSP00000446644:S418A	S	+	1	0	NAV3	77055215	0.984000	0.35163	0.991000	0.47740	0.823000	0.46562	0.261000	0.18442	0.120000	0.18254	-1.055000	0.02315	TCT		0.512	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	48	0	0	0	0	8	48				
LRRIQ1	84125	broad.mit.edu	37	12	85554449	85554449	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:85554449A>C	ENST00000393217.2	+	24	4840	c.4779A>C	c.(4777-4779)aaA>aaC	p.K1593N	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1593										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTCTTCCAAAATCACCAAAGA	0.343																																						uc001tac.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4777-4779)AAA>AAC		leucine-rich repeats and IQ motif containing 1							123.0	112.0	115.0					12																	85554449		1823	4079	5902	SO:0001583	missense	84125							g.chr12:85554449A>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4779A>C	12.37:g.85554449A>C	ENSP00000376910:p.Lys1593Asn						p.K1593N	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	24	4890	+			1593					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4779A>C	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.840|7.840	0.721667|0.721667	0.15372|0.15372	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.55052|.	0.54|.	4.77|4.77	-0.4|-0.4	0.12411|0.12411	.|.	.|.	.|.	.|.	.|.	T|T	0.29223|0.29223	0.0727|0.0727	N|N	0.24115|0.24115	0.695|0.695	0.25599|0.25599	N|N	0.986615|0.986615	D|.	0.76494|.	0.999|.	D|.	0.69824|.	0.966|.	T|T	0.30880|0.30880	-0.9963|-0.9963	9|5	0.87932|.	D|.	0|.	.|.	9.5636|9.5636	0.39385|0.39385	0.6002:0.0:0.3998:0.0|0.6002:0.0:0.3998:0.0	.|.	1593|.	Q96JM4|.	LRIQ1_HUMAN|.	N|T	1593|14	ENSP00000376910:K1593N|.	ENSP00000376910:K1593N|.	K|N	+|+	3|2	2|0	LRRIQ1|LRRIQ1	84078580|84078580	0.113000|0.113000	0.22115|0.22115	0.008000|0.008000	0.14137|0.14137	0.048000|0.048000	0.14542|0.14542	-0.115000|-0.115000	0.10741|0.10741	-0.008000|-0.008000	0.14320|0.14320	0.455000|0.455000	0.32223|0.32223	AAA|AAT		0.343	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		5	58	0	0	0	0	5	58				
VEZT	55591	broad.mit.edu	37	12	95694420	95694420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:95694420G>C	ENST00000436874.1	+	12	2416	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.E723Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	771					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AATAATAGAAGAAAATAAAAA	0.383																																						uc001tdz.2		NA																	0				ovary(1)	1						c.(2311-2313)GAA>CAA		vezatin, adherens junctions transmembrane							27.0	26.0	26.0					12																	95694420		1819	4070	5889	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95694420G>C	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.2311G>C	12.37:g.95694420G>C	ENSP00000410083:p.Glu771Gln					VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_Missense_Mutation_p.E136Q|VEZT_uc001tdy.2_RNA	p.E771Q	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			12	2416	+			771					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.2311G>C	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	2.425	-0.332146	0.05314	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397796	T;T	0.15834	2.39;2.39	5.65	4.77	0.60923	.	0.681357	0.15633	N	0.252261	T	0.12390	0.0301	L	0.40543	1.245	0.26309	N	0.977854	P	0.38250	0.624	B	0.32864	0.154	T	0.14924	-1.0455	10	0.22109	T	0.4	-36.0426	9.0024	0.36090	0.0746:0.0:0.7782:0.1472	.	771	Q9HBM0	VEZA_HUMAN	Q	771;723;771	ENSP00000410083:E771Q;ENSP00000261219:E723Q	ENSP00000261219:E723Q	E	+	1	0	VEZT	94218551	1.000000	0.71417	0.872000	0.34217	0.102000	0.19082	4.823000	0.62694	1.390000	0.46547	0.650000	0.86243	GAA		0.383	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		4	23	0	0	0	0	4	23				
NEDD1	121441	broad.mit.edu	37	12	97328772	97328772	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:97328772T>C	ENST00000266742.4	+	7	847	c.508T>C	c.(508-510)Tac>Cac	p.Y170H	NEDD1_ENST00000457368.2_Missense_Mutation_p.Y81H|NEDD1_ENST00000411739.2_Missense_Mutation_p.Y81H|NEDD1_ENST00000429527.2_Missense_Mutation_p.Y170H|NEDD1_ENST00000557644.1_Missense_Mutation_p.Y177H|NEDD1_ENST00000555114.1_3'UTR	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	170				Y -> C (in Ref. 1; BAC04099). {ECO:0000305}.	G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GCACTTGAAGTACTCCTTGTT	0.328																																						uc001teu.3		NA																	0					0						c.(508-510)TAC>CAC		neural precursor cell expressed, developmentally							107.0	105.0	106.0					12																	97328772		2203	4300	6503	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97328772T>C		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.508T>C	12.37:g.97328772T>C	ENSP00000266742:p.Tyr170His					NEDD1_uc001tev.3_Missense_Mutation_p.Y170H|NEDD1_uc010svc.1_Missense_Mutation_p.Y81H|NEDD1_uc001tew.2_Missense_Mutation_p.Y177H|NEDD1_uc001tex.2_Missense_Mutation_p.Y81H	p.Y170H	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			7	847	+			170	Y -> C (in Ref. 1; BAC04099).		WD 5.		B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.508T>C	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082534	0.76528	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000553609;ENST00000557644;ENST00000457368	T;T;T;T;T;T	0.30448	1.53;1.53;1.54;1.53;1.53;1.54	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.119998	0.64402	D	0.000018	T	0.61198	0.2328	M	0.84683	2.71	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.975	T	0.67968	-0.5533	10	0.87932	D	0	.	15.9862	0.80155	0.0:0.0:0.0:1.0	.	177;170	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	H	170;170;81;81;177;81	ENSP00000266742:Y170H;ENSP00000404978:Y170H;ENSP00000411307:Y81H;ENSP00000451830:Y81H;ENSP00000451211:Y177H;ENSP00000407964:Y81H	ENSP00000266742:Y170H	Y	+	1	0	NEDD1	95852903	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.408000	0.59761	2.173000	0.68751	0.528000	0.53228	TAC		0.328	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			13	75	0	0	0	0	13	75				
UBE3B	89910	broad.mit.edu	37	12	109972546	109972546	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:109972546C>T	ENST00000342494.3	+	28	3761	c.3166C>T	c.(3166-3168)Cgc>Tgc	p.R1056C	UBE3B_ENST00000434735.2_Missense_Mutation_p.R1056C	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1056	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGAGAAGCTGCGCTACGCCAT	0.642																																						uc001top.2		NA																	0				ovary(2)|lung(2)	4						c.(3166-3168)CGC>TGC		ubiquitin protein ligase E3B							109.0	95.0	100.0					12																	109972546		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109972546C>T	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.3166C>T	12.37:g.109972546C>T	ENSP00000340596:p.Arg1056Cys					UBE3B_uc001toq.2_Missense_Mutation_p.R1056C|UBE3B_uc001tos.2_Missense_Mutation_p.R483C|UBE3B_uc001tot.2_Missense_Mutation_p.R174C|UBE3B_uc010sxp.1_3'UTR	p.R1056C	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			28	3769	+			1056			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.3166C>T	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781883	0.90282	.	.	ENSG00000151148	ENST00000434735;ENST00000342494	T;T	0.59083	0.29;0.29	5.3	4.41	0.53225	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84987	0.0892	10	0.72032	D	0.01	0.0049	14.4631	0.67465	0.1481:0.8519:0.0:0.0	.	1056	Q7Z3V4	UBE3B_HUMAN	C	1056	ENSP00000391529:R1056C;ENSP00000340596:R1056C	ENSP00000340596:R1056C	R	+	1	0	UBE3B	108456929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.719000	0.68462	1.212000	0.43366	0.563000	0.77884	CGC		0.642	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		9	51	0	0	0	0	9	51				
RPLP0	6175	broad.mit.edu	37	12	120636693	120636693	+	Silent	SNP	G	G	A	rs553386311		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:120636693G>A	ENST00000551150.1	-	4	744	c.429C>T	c.(427-429)atC>atT	p.I143I	RPLP0_ENST00000228306.4_Silent_p.I143I|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000392514.4_Silent_p.I143I|PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000313104.5_Silent_p.I143I|RPLP0_ENST00000546989.1_Silent_p.I143I|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000552292.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	143					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTTAGTGGTGATACCTAAAG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		20656	0.001		0.0	False		,,,				2504	0.0					uc001txp.2		NA																	0				ovary(1)	1						c.(427-429)ATC>ATT		ribosomal protein P0							44.0	43.0	44.0					12																	120636693		2203	4299	6502	SO:0001819	synonymous_variant	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636693G>A	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.429C>T	12.37:g.120636693G>A						RPLP0_uc001txq.2_Silent_p.I143I|RPLP0_uc001txr.2_Silent_p.I143I|uc001txs.1_5'Flank	p.I143I	NM_053275	NP_444505	P05388	RLA0_HUMAN			5	666	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		143					Q3B7A4|Q9BVK4	Silent	SNP	ENST00000551150.1	37	c.429C>T	CCDS9193.1																																																																																				0.552	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		5	32	0	0	0	0	5	32				
GPR133	283383	broad.mit.edu	37	12	131498863	131498863	+	Missense_Mutation	SNP	C	C	T	rs149266247	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:131498863C>T	ENST00000261654.5	+	13	2010	c.1451C>T	c.(1450-1452)aCg>aTg	p.T484M	GPR133_ENST00000535015.1_Missense_Mutation_p.T516M|GPR133_ENST00000376682.4_Missense_Mutation_p.T170M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	484					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCACTCATTACGGTCCACCTC	0.587													c|||	22	0.00439297	0.0166	0.0	5008	,	,		19013	0.0		0.0	False		,,,				2504	0.0					uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(1450-1452)ACG>ATG		G protein-coupled receptor 133 precursor			MET/THR	34,4372	39.2+/-71.8	0,34,2169	127.0	102.0	110.0		1451	3.8	0.0	12	dbSNP_134	110	0,8600		0,0,4300	yes	missense	GPR133	NM_198827.3	81	0,34,6469	TT,TC,CC		0.0,0.7717,0.2614	probably-damaging	484/875	131498863	34,12972	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131498863C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1451C>T	12.37:g.131498863C>T	ENSP00000261654:p.Thr484Met					GPR133_uc010tbm.1_Missense_Mutation_p.T516M	p.T484M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	13	2010	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		484			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1451C>T	CCDS9272.1	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	c	11.45	1.642377	0.29246	0.007717	0.0	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682	T;T;T	0.46819	0.86;0.86;0.86	4.64	3.76	0.43208	.	0.294238	0.32852	N	0.005579	T	0.39545	0.1082	M	0.63843	1.955	0.21553	N	0.999642	D;D	0.76494	0.999;0.994	P;P	0.56127	0.792;0.719	T	0.40001	-0.9586	10	0.62326	D	0.03	.	9.3791	0.38301	0.0:0.8989:0.0:0.1011	.	516;484	B7ZLF7;Q6QNK2	.;GP133_HUMAN	M	484;516;170	ENSP00000261654:T484M;ENSP00000444425:T516M;ENSP00000365872:T170M	ENSP00000261654:T484M	T	+	2	0	GPR133	130064816	0.667000	0.27484	0.004000	0.12327	0.000000	0.00434	1.153000	0.31676	1.090000	0.41315	-0.142000	0.14014	ACG		0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		10	47	0	0	0	0	10	47				
PCDH17	27253	broad.mit.edu	37	13	58208055	58208055	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:58208055G>T	ENST00000377918.3	+	1	1401	c.1375G>T	c.(1375-1377)Gcg>Tcg	p.A459S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAAGTCGTTCGCGATCAAGAT	0.607																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1375-1377)GCG>TCG		protocadherin 17 precursor							52.0	42.0	45.0					13																	58208055		2202	4300	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208055G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1375G>T	13.37:g.58208055G>T	ENSP00000367151:p.Ala459Ser					PCDH17_uc010aec.1_Missense_Mutation_p.A459S	p.A459S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2267	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	459			Extracellular (Potential).|Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1375G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	1.451	-0.565051	0.03939	.	.	ENSG00000118946	ENST00000377918	T	0.49720	0.77	5.58	3.59	0.41128	Cadherin (5);Cadherin-like (1);	0.245807	0.48767	N	0.000178	T	0.22513	0.0543	N	0.04669	-0.19	0.36298	D	0.856839	B;B	0.13145	0.001;0.007	B;B	0.22386	0.013;0.039	T	0.13602	-1.0503	9	.	.	.	.	8.3819	0.32477	0.082:0.0:0.4926:0.4254	.	459;459	O14917-2;O14917	.;PCD17_HUMAN	S	459	ENSP00000367151:A459S	.	A	+	1	0	PCDH17	57106056	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	2.595000	0.46197	1.298000	0.44778	0.561000	0.74099	GCG		0.607	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		3	19	1	0	2.56e-06	2.73e-06	3	19				
GPR18	2841	broad.mit.edu	37	13	99907960	99907960	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:99907960G>A	ENST00000340807.3	-	3	723	c.167C>T	c.(166-168)aCg>aTg	p.T56M	GPR18_ENST00000397473.2_Missense_Mutation_p.T56M|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.T56M			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	56					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	GATGGTTACCGTGGTTCTCTT	0.348																																						uc001voe.3		NA																	0					0						c.(166-168)ACG>ATG		G protein-coupled receptor 18	Glycine(DB00145)						93.0	96.0	95.0					13																	99907960		2203	4300	6503	SO:0001583	missense	2841					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:99907960G>A	L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.167C>T	13.37:g.99907960G>A	ENSP00000343428:p.Thr56Met					UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.T56M	p.T56M	NM_005292	NP_005283	Q14330	GPR18_HUMAN			3	668	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		56			Cytoplasmic (Potential).		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	ENST00000340807.3	37	c.167C>T	CCDS9491.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285128	0.80803	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807;ENST00000416594	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.056369	0.64402	D	0.000001	T	0.49457	0.1558	L	0.28274	0.84	0.58432	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	T	0.27191	-1.0081	9	.	.	.	-24.4573	20.6593	0.99626	0.0:0.0:1.0:0.0	.	56	Q14330	GPR18_HUMAN	M	56	ENSP00000380613:T56M;ENSP00000380610:T56M;ENSP00000343428:T56M;ENSP00000401611:T56M	.	T	-	2	0	GPR18	98705961	1.000000	0.71417	0.960000	0.40013	0.843000	0.47879	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	ACG		0.348	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045585.1			28	56	0	0	0	0	28	56				
PCID2	55795	broad.mit.edu	37	13	113832567	113832567	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr13:113832567T>A	ENST00000337344.4	-	14	1221	c.1145A>T	c.(1144-1146)cAg>cTg	p.Q382L	PCID2_ENST00000375457.2_Missense_Mutation_p.Q380L|PCID2_ENST00000246505.5_Missense_Mutation_p.Q436L|PCID2_ENST00000375479.2_Missense_Mutation_p.Q382L|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375477.1_Missense_Mutation_p.Q382L|PCID2_ENST00000375459.1_Missense_Mutation_p.Q380L	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	382	PCI.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CACCAGCTTCTGATGCTGATG	0.522																																						uc010tju.1		NA																	0					0						c.(1144-1146)CAG>CTG		PCI domain containing 2							245.0	181.0	203.0					13																	113832567		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113832567T>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.1145A>T	13.37:g.113832567T>A	ENSP00000337405:p.Gln382Leu					PCID2_uc001vtb.2_Missense_Mutation_p.Q215L|PCID2_uc010tjv.1_Missense_Mutation_p.Q382L|PCID2_uc010tjw.1_Missense_Mutation_p.Q382L|PCID2_uc001vte.2_Missense_Mutation_p.Q275L|PCID2_uc001vtd.2_Missense_Mutation_p.Q275L|PCID2_uc001vtf.2_Missense_Mutation_p.Q275L	p.Q382L	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		14	1226	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	382			PCI.		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.1145A>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108492	0.56291	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.35	5.35	0.76521	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.46073	0.1374	M	0.69823	2.125	0.80722	D	1	P;B	0.44521	0.837;0.188	P;B	0.47206	0.541;0.41	T	0.42716	-0.9435	10	0.37606	T	0.19	-16.3216	13.9279	0.63975	0.0:0.0:0.0:1.0	.	436;382	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	L	382;382;382;436;380;380;359;382;359	ENSP00000337405:Q382L;ENSP00000364628:Q382L;ENSP00000364626:Q382L;ENSP00000246505:Q436L;ENSP00000364608:Q380L;ENSP00000364606:Q380L;ENSP00000327335:Q359L	ENSP00000246505:Q436L	Q	-	2	0	PCID2	112880568	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.804000	0.85993	2.029000	0.59856	0.533000	0.62120	CAG		0.522	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		25	26	0	0	0	0	25	26				
DHRS4	10901	broad.mit.edu	37	14	24424278	24424278	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:24424278G>T	ENST00000313250.5	+	2	366	c.163G>T	c.(163-165)Gac>Tac	p.D55Y	DHRS4_ENST00000397075.3_Missense_Mutation_p.D55Y|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000543741.2_Missense_Mutation_p.D55Y|DHRS4_ENST00000397073.2_Missense_Mutation_p.D37Y|DHRS4_ENST00000558581.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000382761.3_Missense_Mutation_p.D37Y|DHRS4_ENST00000308178.8_Missense_Mutation_p.D37Y|DHRS4_ENST00000421831.1_Missense_Mutation_p.D37Y|DHRS4_ENST00000559632.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000558263.1_Missense_Mutation_p.D55Y|DHRS4_ENST00000397074.3_Missense_Mutation_p.D55Y	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	55					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	TTTGGCCCAGGACGGGGCCCA	0.647																																						uc001wla.2		NA																	0				ovary(1)	1						c.(163-165)GAC>TAC		peroxisomal short-chain alcohol dehydrogenase	Vitamin A(DB00162)						54.0	61.0	59.0					14																	24424278		2203	4299	6502	SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424278G>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.163G>T	14.37:g.24424278G>T	ENSP00000326219:p.Asp55Tyr					C14orf167_uc001wkz.2_5'Flank|C14orf167_uc001wky.2_5'Flank|C14orf167_uc001wkx.2_5'Flank|C14orf167_uc010akx.1_RNA|DHRS4_uc010aky.2_Missense_Mutation_p.D55Y|DHRS4_uc001wlb.2_Missense_Mutation_p.D55Y|DHRS4_uc010akz.2_Missense_Mutation_p.D55Y|DHRS4_uc001wlc.3_Missense_Mutation_p.D55Y|DHRS4L2_uc001wld.3_Missense_Mutation_p.D55Y|DHRS4L2_uc001wle.3_Missense_Mutation_p.D55Y	p.D55Y	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	196	+			55			NADP (By similarity).		B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	c.163G>T	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	16.05	3.012625	0.54468	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.87729	0.95;1.94;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	3.48	3.48	0.39840	NAD(P)-binding domain (1);	0.285242	0.38217	N	0.001761	D	0.88662	0.6497	L	0.33339	1.005	0.45129	D	0.998143	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.81914	0.994;0.98;0.995;0.992;0.979;0.99	D	0.88583	0.3138	10	0.49607	T	0.09	.	12.5642	0.56300	0.0:0.0:1.0:0.0	.	55;55;55;55;55;55	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	Y	55;37;37;37;37;55;55;55	ENSP00000326219:D55Y;ENSP00000404147:D37Y;ENSP00000380263:D37Y;ENSP00000311993:D37Y;ENSP00000372209:D37Y;ENSP00000380265:D55Y;ENSP00000380264:D55Y;ENSP00000440508:D55Y	ENSP00000311993:D37Y	D	+	1	0	DHRS4	23494118	1.000000	0.71417	0.996000	0.52242	0.858000	0.48976	5.215000	0.65241	1.797000	0.52628	0.479000	0.44913	GAC		0.647	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			15	81	1	0	8.6e-14	9.56e-14	15	81				
CPNE6	9362	broad.mit.edu	37	14	24546188	24546188	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:24546188G>A	ENST00000397016.2	+	15	1577	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	CPNE6_ENST00000537691.1_Silent_p.P477P|CPNE6_ENST00000216775.2_Silent_p.P422P	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	422	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGGCTGAGCCGGCCCAGCGGG	0.637																																						uc001wll.2		NA																	0				skin(2)|ovary(1)	3						c.(1264-1266)CCG>CCA		copine 6							42.0	39.0	40.0					14																	24546188		2203	4300	6503	SO:0001819	synonymous_variant	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24546188G>A	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1266G>A	14.37:g.24546188G>A						CPNE6_uc010tnv.1_Silent_p.P477P|CPNE6_uc001wlm.2_Silent_p.P247P|CPNE6_uc001wln.2_Silent_p.P90P	p.P422P	NM_006032	NP_006023	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	14	1365	+			422			VWFA.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	ENST00000397016.2	37	c.1266G>A	CCDS9607.1																																																																																				0.637	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			5	24	0	0	0	0	5	24				
NEMF	9147	broad.mit.edu	37	14	50262630	50262630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:50262630G>C	ENST00000298310.5	-	26	2947	c.2498C>G	c.(2497-2499)tCa>tGa	p.S833*	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Nonsense_Mutation_p.S791*|NEMF_ENST00000546046.1_Nonsense_Mutation_p.S812*|NEMF_ENST00000382135.2_Nonsense_Mutation_p.S33*			O60524	NEMF_HUMAN	nuclear export mediator factor	833					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TAAATCTCCTGAGTCACTTGG	0.338																																						uc001wxc.2		NA																	0					0						c.(2497-2499)TCA>TGA		serologically defined colon cancer antigen 1							147.0	136.0	140.0					14																	50262630		2202	4300	6502	SO:0001587	stop_gained	9147					cytoplasm|nucleus		g.chr14:50262630G>C	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2498C>G	14.37:g.50262630G>C	ENSP00000298310:p.Ser833*					SDCCAG1_uc010anj.1_Nonsense_Mutation_p.S833*|SDCCAG1_uc001wwz.2_Nonsense_Mutation_p.S33*|SDCCAG1_uc001wxa.2_Nonsense_Mutation_p.S113*|SDCCAG1_uc010tqi.1_Nonsense_Mutation_p.S812*|SDCCAG1_uc001wxe.2_Nonsense_Mutation_p.S791*|SDCCAG1_uc001wxd.1_Nonsense_Mutation_p.S238*	p.S833*	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	26	2566	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	833					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Nonsense_Mutation	SNP	ENST00000298310.5	37	c.2498C>G	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	38	7.242199	0.98157	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	.	.	.	5.55	4.66	0.58398	.	0.932267	0.09115	N	0.846491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	1.5379	8.2362	0.31627	0.0804:0.0:0.7644:0.1552	.	.	.	.	X	833;791;33;812;605;791	.	ENSP00000298310:S833X	S	-	2	0	NEMF	49332380	0.179000	0.23135	0.520000	0.27837	0.949000	0.60115	1.787000	0.38704	1.332000	0.45431	0.655000	0.94253	TCA		0.338	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		7	45	0	0	0	0	7	45				
TMEM260	54916	broad.mit.edu	37	14	57101623	57101623	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:57101623T>G	ENST00000261556.6	+	14	1853	c.1731T>G	c.(1729-1731)gaT>gaG	p.D577E	TMEM260_ENST00000538838.1_3'UTR|RP11-1085N6.2_ENST00000553800.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.D111E|RP11-1085N6.2_ENST00000555924.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	577						integral component of membrane (GO:0016021)											ACAGGTTTGATCCATCTTCTT	0.393																																						uc001xcm.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1729-1731)GAT>GAG		hypothetical protein LOC54916							177.0	167.0	171.0					14																	57101623		2203	4300	6503	SO:0001583	missense	54916					integral to membrane		g.chr14:57101623T>G	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1731T>G	14.37:g.57101623T>G	ENSP00000261556:p.Asp577Glu					C14orf101_uc001xcj.2_RNA|C14orf101_uc001xcl.1_RNA|C14orf101_uc001xcn.2_RNA|C14orf101_uc010trf.1_Missense_Mutation_p.D110E|C14orf101_uc001xco.2_Missense_Mutation_p.D110E	p.D577E	NM_017799	NP_060269	Q9NX78	CN101_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;0.226)	14	1853	+			577					A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	c.1731T>G	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	T	12.55	1.972400	0.34848	.	.	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.46819	1.52;0.86	6.04	3.38	0.38709	.	0.391863	0.30510	N	0.009480	T	0.34424	0.0897	L	0.43152	1.355	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.15464	-1.0436	10	0.21540	T	0.41	-15.7526	7.4569	0.27272	0.0:0.1837:0.121:0.6953	.	577	Q9NX78	CN101_HUMAN	E	577;111	ENSP00000261556:D577E;ENSP00000438742:D111E	ENSP00000261556:D577E	D	+	3	2	C14orf101	56171376	0.966000	0.33281	0.941000	0.38009	0.973000	0.67179	0.331000	0.19733	1.101000	0.41535	0.460000	0.39030	GAT		0.393	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799		20	62	0	0	0	0	20	62				
NEK9	91754	broad.mit.edu	37	14	75567725	75567725	+	Missense_Mutation	SNP	C	C	T	rs151072111		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:75567725C>T	ENST00000238616.5	-	16	2130	c.1972G>A	c.(1972-1974)Ggt>Agt	p.G658S		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	658					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AACTCATCACCGCAGGAGACC	0.517																																						uc001xrl.2		NA																	0				lung(2)|stomach(2)|ovary(1)	5						c.(1972-1974)GGT>AGT		NIMA-related kinase 9		C	SER/GLY	0,4406		0,0,2203	97.0	91.0	93.0		1972	5.4	1.0	14	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	no	missense	NEK9	NM_033116.4	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	658/980	75567725	2,13004	2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75567725C>T	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1972G>A	14.37:g.75567725C>T	ENSP00000238616:p.Gly658Ser					NEK9_uc001xrk.2_Missense_Mutation_p.G158S	p.G658S	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	16	2126	-			658			RCC1 5.		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.1972G>A	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375814	0.95923	0.0	2.33E-4	ENSG00000119638	ENST00000238616	D	0.98028	-4.67	5.42	5.42	0.78866	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99843	1.1063	10	0.87932	D	0	.	19.2151	0.93774	0.0:1.0:0.0:0.0	.	658;1	Q8TD19;Q6PKF2	NEK9_HUMAN;.	S	658	ENSP00000238616:G658S	ENSP00000238616:G658S	G	-	1	0	NEK9	74637478	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	7.818000	0.86416	2.542000	0.85734	0.563000	0.77884	GGT		0.517	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		21	33	0	0	0	0	21	33				
ISM2	145501	broad.mit.edu	37	14	77942421	77942421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr14:77942421C>G	ENST00000342219.4	-	7	1289	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N	ISM2_ENST00000412904.1_Missense_Mutation_p.K330N|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000393684.3_Missense_Mutation_p.K323N|ISM2_ENST00000429906.1_Missense_Mutation_p.K330N	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	411	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GGAAGTCGCTCTTGCAGTTCA	0.612																																						uc001xtz.2		NA																	0				skin(1)	1						c.(1231-1233)AAG>AAC		isthmin 2 homolog isoform 1							46.0	48.0	48.0					14																	77942421		2203	4299	6502	SO:0001583	missense	145501					extracellular region		g.chr14:77942421C>G	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.1233G>C	14.37:g.77942421C>G	ENSP00000341490:p.Lys411Asn					ISM2_uc001xua.2_3'UTR|ISM2_uc001xty.2_Missense_Mutation_p.K323N|ISM2_uc010tvl.1_Missense_Mutation_p.K330N	p.K411N	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN			7	1307	-			411			AMOP.		A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.1233G>C	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331525	0.41297	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.30714	1.52;1.56;1.56;1.88	4.98	3.09	0.35607	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.49304	0.1549	M	0.81802	2.56	0.58432	D	0.999996	D;D	0.57899	0.976;0.981	P;D	0.63033	0.81;0.91	T	0.44620	-0.9316	10	0.59425	D	0.04	-0.5133	6.591	0.22646	0.0:0.6943:0.1483:0.1574	.	330;411	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	N	411;330;330;323	ENSP00000341490:K411N;ENSP00000416773:K330N;ENSP00000395387:K330N;ENSP00000377289:K323N	ENSP00000341490:K411N	K	-	3	2	ISM2	77012174	1.000000	0.71417	0.906000	0.35671	0.275000	0.26752	1.183000	0.32041	0.466000	0.27193	0.561000	0.74099	AAG		0.612	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		9	46	0	0	0	0	9	46				
TRPM1	4308	broad.mit.edu	37	15	31295039	31295039	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:31295039G>A	ENST00000256552.6	-	28	4011	c.3864C>T	c.(3862-3864)agC>agT	p.S1288S	TRPM1_ENST00000397795.2_Silent_p.S1266S|TRPM1_ENST00000542188.1_Silent_p.S1305S|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGCCATCAGCGCTATTGATGC	0.488																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3796-3798)AGC>AGT		transient receptor potential cation channel,							83.0	83.0	83.0					15																	31295039		2065	4202	6267	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31295039G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3864C>T	15.37:g.31295039G>A						TRPM1_uc010azy.2_Silent_p.S1173S|TRPM1_uc001zfl.2_RNA	p.S1266S	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	3926	-		all_lung(180;1.92e-11)	1266			Cytoplasmic (Potential).			Silent	SNP	ENST00000256552.6	37	c.3798C>T	CCDS58346.1																																																																																				0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		13	56	0	0	0	0	13	56				
ZNF592	9640	broad.mit.edu	37	15	85327115	85327115	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:85327115G>C	ENST00000560079.2	+	4	1497	c.1209G>C	c.(1207-1209)aaG>aaC	p.K403N	ZNF592_ENST00000299927.3_Missense_Mutation_p.K403N	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	403					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATCCAAGTAAGTCCCCTGTTG	0.532																																						uc002bld.2		NA																	0				ovary(4)|skin(2)	6						c.(1207-1209)AAG>AAC		zinc finger protein 592							52.0	55.0	54.0					15																	85327115		2203	4299	6502	SO:0001583	missense	9640				cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:85327115G>C	D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.1209G>C	15.37:g.85327115G>C	ENSP00000452877:p.Lys403Asn					ZNF592_uc010upb.1_RNA	p.K403N	NM_014630	NP_055445	Q92610	ZN592_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		4	1545	+			403					Q2M1T2|Q504Y9	Missense_Mutation	SNP	ENST00000560079.2	37	c.1209G>C	CCDS32317.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160807	0.38119	.	.	ENSG00000166716	ENST00000299927	T	0.00631	6.09	5.54	4.63	0.57726	.	0.157760	0.56097	D	0.000021	T	0.00998	0.0033	N	0.08118	0	0.40051	D	0.975774	D	0.71674	0.998	P	0.62649	0.905	D	0.84915	0.0850	10	0.33141	T	0.24	-30.7774	12.2119	0.54383	0.0832:0.0:0.9168:0.0	.	403	Q92610	ZN592_HUMAN	N	403	ENSP00000299927:K403N	ENSP00000299927:K403N	K	+	3	2	ZNF592	83128119	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	0.909000	0.28558	1.342000	0.45619	-0.152000	0.13540	AAG		0.532	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630		6	33	0	0	0	0	6	33				
NTRK3	4916	broad.mit.edu	37	15	88483978	88483978	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:88483978T>C	ENST00000360948.2	-	14	1753	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	NTRK3_ENST00000355254.2_Missense_Mutation_p.Q531R|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q523R|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q523R|NTRK3_ENST00000394480.2_Missense_Mutation_p.Q531R|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q523R|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q433R	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	531					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTAATGTGCTGCACATCTGT	0.537			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1591-1593)CAG>CGG		neurotrophic tyrosine kinase, receptor, type 3							180.0	153.0	162.0					15																	88483978		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88483978T>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1592A>G	15.37:g.88483978T>C	ENSP00000354207:p.Gln531Arg	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.Q523R|NTRK3_uc002bmf.1_Missense_Mutation_p.Q531R|NTRK3_uc010upl.1_Missense_Mutation_p.Q433R|NTRK3_uc010bnh.1_Missense_Mutation_p.Q523R	p.Q531R	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1754	-			531			Cytoplasmic (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1592A>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	11.46	1.645745	0.29246	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.29	4.16	0.48862	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	L	0.43923	1.385	0.80722	D	1	B;B;B;B;B	0.24533	0.003;0.031;0.105;0.013;0.013	B;B;B;B;B	0.27170	0.003;0.015;0.077;0.011;0.02	T	0.70502	-0.4854	10	0.02654	T	1	.	10.0348	0.42122	0.0:0.0796:0.0:0.9204	.	433;523;523;531;531	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	R	531;531;523;531;433;27	ENSP00000377990:Q531R;ENSP00000354207:Q531R;ENSP00000350356:Q523R;ENSP00000347397:Q531R;ENSP00000437773:Q433R	ENSP00000342792:Q27R	Q	-	2	0	NTRK3	86284982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.930000	0.70104	0.859000	0.35456	0.533000	0.62120	CAG		0.537	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				20	78	0	0	0	0	20	78				
HAPLN3	145864	broad.mit.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:89424833C>T	ENST00000359595.3	-	3	462	c.248G>A	c.(247-249)cGt>cAt	p.R83H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R145H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	83	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GACACGCACACGCCGCGGGGA	0.657																																						uc002bnc.2		NA																	0					0						c.(247-249)CGT>CAT		hyaluronan and proteoglycan link protein 3							73.0	70.0	71.0					15																	89424833		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424833C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.248G>A	15.37:g.89424833C>T	ENSP00000352606:p.Arg83His					HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R145H	p.R83H	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			3	376	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		83			Ig-like V-type.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.248G>A	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	4.290	0.052971	0.08291	.	.	ENSG00000140511	ENST00000359595	T	0.64991	-0.13	4.22	1.13	0.20643	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.478425	0.18864	N	0.129039	T	0.38692	0.1050	N	0.11927	0.2	0.09310	N	1	B;B	0.22983	0.078;0.078	B;B	0.21546	0.035;0.035	T	0.19484	-1.0304	10	0.37606	T	0.19	-2.6237	7.3451	0.26658	0.0:0.2601:0.2903:0.4496	.	83;83	A8K7T8;Q96S86	.;HPLN3_HUMAN	H	83	ENSP00000352606:R83H	ENSP00000352606:R83H	R	-	2	0	HAPLN3	87225837	0.540000	0.26410	0.013000	0.15412	0.006000	0.05464	0.918000	0.28678	-0.072000	0.12864	-0.823000	0.03104	CGT		0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		20	58	0	0	0	0	20	58				
SYNM	23336	broad.mit.edu	37	15	99672905	99672905	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:99672905C>T	ENST00000336292.6	+	5	4457	c.4337C>T	c.(4336-4338)aCg>aTg	p.T1446M	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1447	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCAGCAGAACGCTAAGGCAC	0.542																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(4339-4341)ACG>ATG		desmuslin isoform A							185.0	190.0	188.0					15																	99672905		2106	4218	6324	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672905C>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4337C>T	15.37:g.99672905C>T	ENSP00000336775:p.Thr1446Met					SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron	p.T1447M	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	4460	+			1447			Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.4340C>T		.	.	.	.	.	.	.	.	.	.	C	14.81	2.645833	0.47258	.	.	ENSG00000182253	ENST00000336292	T	0.18338	2.22	5.11	1.09	0.20402	.	.	.	.	.	T	0.12689	0.0308	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.27262	-1.0079	8	0.87932	D	0	.	6.7538	0.23501	0.0:0.6571:0.127:0.2159	.	1447	O15061	SYNEM_HUMAN	M	1446	ENSP00000336775:T1446M	ENSP00000336775:T1446M	T	+	2	0	SYNM	97490428	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.990000	0.29642	-0.048000	0.13401	-0.743000	0.03520	ACG		0.542	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		33	114	0	0	0	0	33	114				
MEF2A	4205	broad.mit.edu	37	15	100250868	100250868	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr15:100250868G>T	ENST00000557785.1	+	10	1364	c.1015G>T	c.(1015-1017)Gcc>Tcc	p.A339S	MEF2A_ENST00000557942.1_Missense_Mutation_p.A347S|MEF2A_ENST00000354410.5_Missense_Mutation_p.A341S|MEF2A_ENST00000449277.2_Missense_Mutation_p.A271S|MEF2A_ENST00000558812.1_Missense_Mutation_p.A279S|MEF2A_ENST00000338042.6_Missense_Mutation_p.A348S|MEF2A_ENST00000453228.2_Missense_Mutation_p.A339S	NM_001171894.1	NP_001165365.1	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	349					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.A349S(1)|p.A339S(1)|p.A341S(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGACCTGTCAGCCCTTCAAGG	0.527																																						uc010urw.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1045-1047)GCC>TCC		myocyte enhancer factor 2A isoform 1							59.0	57.0	58.0					15																	100250868		1999	4174	6173	SO:0001583	missense	4205				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding	g.chr15:100250868G>T		CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000557785.1:c.1015G>T	15.37:g.100250868G>T	ENSP00000453441:p.Ala339Ser					MEF2A_uc010urv.1_Missense_Mutation_p.A279S|MEF2A_uc010bos.2_Missense_Mutation_p.A339S|MEF2A_uc002bvf.2_Missense_Mutation_p.A341S|MEF2A_uc002bve.2_Missense_Mutation_p.A347S|MEF2A_uc002bvg.2_Missense_Mutation_p.A339S|MEF2A_uc002bvi.2_Missense_Mutation_p.A339S|MEF2A_uc010bot.2_Missense_Mutation_p.A271S	p.A349S	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00085)		10	1404	+	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		349					B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000557785.1	37	c.1045G>T	CCDS53978.1	.	.	.	.	.	.	.	.	.	.	G	7.692	0.691240	0.15039	.	.	ENSG00000068305	ENST00000453228;ENST00000354410;ENST00000338042;ENST00000449277	T;T;T	0.20200	2.09;2.09;2.09	5.65	5.65	0.86999	.	0.096266	0.64402	D	0.000001	T	0.06554	0.0168	N	0.01081	-1.03	0.27124	N	0.962063	B;B;B;B;B;B	0.32188	0.001;0.002;0.24;0.095;0.002;0.359	B;B;B;B;B;B	0.32149	0.005;0.007;0.141;0.017;0.012;0.108	T	0.23368	-1.0190	10	0.02654	T	1	-22.871	13.9391	0.64043	0.0728:0.0:0.9272:0.0	.	349;279;260;339;341;347	Q02078;B4DFQ7;Q7Z6C9;Q02078-6;Q02078-5;Q02078-2	MEF2A_HUMAN;.;.;.;.;.	S	339;341;348;279	ENSP00000404110:A339S;ENSP00000346389:A341S;ENSP00000337202:A348S	ENSP00000337202:A348S	A	+	1	0	MEF2A	98068391	1.000000	0.71417	0.987000	0.45799	0.946000	0.59487	5.768000	0.68858	2.659000	0.90383	0.563000	0.77884	GCC		0.527	MEF2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415985.1			4	20	1	0	0.00909568	0.00930835	4	20				
MSLN	10232	broad.mit.edu	37	16	818647	818647	+	Splice_Site	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:818647G>T	ENST00000382862.3	+	17	1902		c.e17-1		MSLN_ENST00000566549.1_Splice_Site|MSLN_ENST00000545450.2_Splice_Site|MSLN_ENST00000563941.1_Splice_Site|MIR662_ENST00000384847.1_RNA	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin						cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCTCTCTGTAGAGGCCCTCTC	0.697																																						uc002cjw.1		NA																	0				pancreas(1)	1						c.e17-1		mesothelin isoform 2 preproprotein							62.0	55.0	58.0					16																	818647		2188	4290	6478	SO:0001630	splice_region_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:818647G>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.1808-1G>T	16.37:g.818647G>T						MSLN_uc002cjt.1_Splice_Site_p.E595_splice|MSLN_uc002cju.1_Splice_Site_p.E595_splice|MSLN_uc010brd.1_Splice_Site_p.E594_splice|MSLN_uc002cjv.1_Intron|MSLN_uc002cjx.1_Splice_Site_p.E595_splice|MSLN_uc002cjy.1_Missense_Mutation_p.R287I|MIR662_hsa-mir-662|MI0003670_5'Flank	p.E603_splice	NM_013404	NP_037536	Q13421	MSLN_HUMAN			17	1859	+		Hepatocellular(780;0.00335)						D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Splice_Site	SNP	ENST00000382862.3	37	c.1808_splice	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119147	0.37436	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	.	.	.	2.71	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0789	0.36538	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSLN	758648	0.976000	0.34144	0.982000	0.44146	0.175000	0.22909	1.112000	0.31172	1.842000	0.53543	0.205000	0.17691	.		0.697	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		Intron	12	52	1	0	4.38e-07	4.72e-07	12	52				
GRIN2A	2903	broad.mit.edu	37	16	9934948	9934948	+	Missense_Mutation	SNP	C	C	T	rs368026708		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:9934948C>T	ENST00000396573.2	-	7	1651	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	GRIN2A_ENST00000404927.2_Missense_Mutation_p.E448K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E291K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E448K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E448K|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E448K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	448					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTCATCCCCTCATTGGTTGAA	0.408																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1342-1344)GAG>AAG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	C	LYS/GLU,LYS/GLU,LYS/GLU	1,4393	2.1+/-5.4	0,1,2196	74.0	66.0	69.0		1342,1342,1342	4.7	0.8	16		69	0,8600		0,0,4300	no	missense,missense,missense	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	56,56,56	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	448/1465,448/1465,448/1282	9934948	1,12993	2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9934948C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1342G>A	16.37:g.9934948C>T	ENSP00000379818:p.Glu448Lys					GRIN2A_uc010uym.1_Missense_Mutation_p.E448K|GRIN2A_uc010uyn.1_Missense_Mutation_p.E291K|GRIN2A_uc002czr.3_Missense_Mutation_p.E448K	p.E448K	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			6	1890	-			448			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1342G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932324	0.52866	2.28E-4	0.0	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11821	2.74;2.75;2.75;2.74;2.74	5.63	4.68	0.58851	Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.101511	0.64402	N	0.000002	T	0.08044	0.0201	N	0.08118	0	0.44668	D	0.997658	B;P;B	0.36438	0.211;0.553;0.018	B;B;B	0.37480	0.1;0.251;0.007	T	0.41680	-0.9495	9	.	.	.	.	13.7156	0.62693	0.0:0.9267:0.0:0.0733	.	291;448;448	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	K	448;448;291;448;448	ENSP00000379818:E448K;ENSP00000385872:E448K;ENSP00000441572:E291K;ENSP00000332549:E448K;ENSP00000379820:E448K	.	E	-	1	0	GRIN2A	9842449	1.000000	0.71417	0.766000	0.31476	0.946000	0.59487	5.701000	0.68325	1.390000	0.46547	0.655000	0.94253	GAG		0.408	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			14	60	0	0	0	0	14	60				
SH2B1	25970	broad.mit.edu	37	16	28883644	28883644	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:28883644C>T	ENST00000322610.8	+	9	2086	c.1647C>T	c.(1645-1647)caC>caT	p.H549H	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Silent_p.H549H|SH2B1_ENST00000538342.1_Silent_p.H213H|SH2B1_ENST00000359285.5_Silent_p.H549H|SH2B1_ENST00000545570.1_Silent_p.H239H|SH2B1_ENST00000395532.4_Silent_p.H549H			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	549	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTGGCTCCCACGGTGTCTTCC	0.622																																						uc002dri.2		NA																	0				ovary(2)	2						c.(1645-1647)CAC>CAT		SH2B adaptor protein 1 isoform 1							51.0	51.0	51.0					16																	28883644		2197	4300	6497	SO:0001819	synonymous_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883644C>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1647C>T	16.37:g.28883644C>T						uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.H239H|SH2B1_uc002drj.2_Silent_p.H549H|SH2B1_uc002drk.2_Silent_p.H549H|SH2B1_uc002drl.2_Silent_p.H549H|SH2B1_uc010vdd.1_Silent_p.H213H|SH2B1_uc010vde.1_Silent_p.H549H|SH2B1_uc002drm.2_Silent_p.H549H	p.H549H	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			9	2086	+			549			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	c.1647C>T	CCDS53996.1																																																																																				0.622	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		10	37	0	0	0	0	10	37				
NKD1	85407	broad.mit.edu	37	16	50583366	50583366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:50583366G>A	ENST00000268459.3	+	3	316	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	NKD1_ENST00000564336.1_3'UTR|RP11-401P9.1_ENST00000569940.2_RNA	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	31					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GCCTGGGCTCGGAAGGGCATC	0.692																																						uc002egg.1		NA																	0					0						c.(91-93)CGG>CAG		naked cuticle homolog 1							31.0	33.0	32.0					16																	50583366		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50583366G>A	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.92G>A	16.37:g.50583366G>A	ENSP00000268459:p.Arg31Gln						p.R31Q	NM_033119	NP_149110	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	3	316	+		all_cancers(37;0.229)	31					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.92G>A	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037260	0.93630	.	.	ENSG00000140807	ENST00000268459	T	0.70282	-0.47	4.12	4.12	0.48240	.	0.061248	0.64402	D	0.000010	T	0.81541	0.4844	M	0.66939	2.045	0.47511	D	0.999449	D	0.71674	0.998	D	0.72982	0.979	D	0.83968	0.0325	10	0.72032	D	0.01	-15.4795	14.343	0.66641	0.0:0.0:1.0:0.0	.	31	Q969G9	NKD1_HUMAN	Q	31	ENSP00000268459:R31Q	ENSP00000268459:R31Q	R	+	2	0	NKD1	49140867	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.502000	0.66956	2.134000	0.65973	0.313000	0.20887	CGG		0.692	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			6	21	0	0	0	0	6	21				
CNGB1	1258	broad.mit.edu	37	16	58001097	58001097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:58001097C>G	ENST00000251102.8	-	2	154	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	CNGB1_ENST00000311183.4_Missense_Mutation_p.E32Q|CNGB1_ENST00000564448.1_Missense_Mutation_p.E32Q	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	32	Glu-rich.				cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCTCCATCTCTGGCTCTGGT	0.637																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(94-96)GAG>CAG		cyclic nucleotide gated channel beta 1 isoform							97.0	101.0	100.0					16																	58001097		1995	4169	6164	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:58001097C>G	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.94G>C	16.37:g.58001097C>G	ENSP00000251102:p.Glu32Gln					CNGB1_uc010cdh.2_Missense_Mutation_p.E32Q|CNGB1_uc002emu.2_Missense_Mutation_p.E32Q	p.E32Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			2	159	-			32			Glu-rich.		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.94G>C	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.421608	0.43020	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.97279	-4.32;0.68	4.7	4.7	0.59300	.	0.403035	0.18193	N	0.148759	D	0.96747	0.8938	L	0.32530	0.975	0.09310	N	1	D;D	0.76494	0.999;0.97	D;P	0.65443	0.935;0.601	D	0.91779	0.5434	10	0.52906	T	0.07	.	13.3285	0.60473	0.0:1.0:0.0:0.0	.	32;32	Q14028-3;Q14028	.;CNGB1_HUMAN	Q	32	ENSP00000251102:E32Q;ENSP00000311670:E32Q	ENSP00000251102:E32Q	E	-	1	0	CNGB1	56558598	0.014000	0.17966	0.073000	0.20177	0.155000	0.21991	2.350000	0.44063	2.599000	0.87857	0.448000	0.29417	GAG		0.637	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		10	45	0	0	0	0	10	45				
CDH11	1009	broad.mit.edu	37	16	65032724	65032724	+	Silent	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:65032724A>G	ENST00000268603.4	-	4	879	c.264T>C	c.(262-264)atT>atC	p.I88I	CDH11_ENST00000394156.3_Silent_p.I88I|CDH11_ENST00000566827.1_5'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GAATGTATTTAATGTTCCCAT	0.408			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(262-264)ATT>ATC		cadherin 11, type 2 preproprotein							107.0	91.0	96.0					16																	65032724		2202	4300	6502	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65032724A>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.264T>C	16.37:g.65032724A>G		TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.I88I|CDH11_uc010vin.1_5'UTR|CDH11_uc010vio.1_Silent_p.I88I	p.I88I	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	4	698	-		Ovarian(137;0.0973)	88			Extracellular (Potential).|Cadherin 1.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.264T>C	CCDS10803.1																																																																																				0.408	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		7	36	0	0	0	0	7	36				
NFATC3	4775	broad.mit.edu	37	16	68200760	68200760	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:68200760G>C	ENST00000346183.3	+	5	1640	c.1616G>C	c.(1615-1617)gGt>gCt	p.G539A	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000349223.5_Missense_Mutation_p.G539A|NFATC3_ENST00000575270.1_Missense_Mutation_p.G539A|NFATC3_ENST00000329524.4_Missense_Mutation_p.G539A	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	539	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GATTGTGCAGGTATTTTGAAA	0.299																																						uc002evo.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(1615-1617)GGT>GCT		nuclear factor of activated T-cells,							52.0	51.0	51.0					16																	68200760		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68200760G>C	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1616G>C	16.37:g.68200760G>C	ENSP00000300659:p.Gly539Ala					NFATC3_uc010vkl.1_Missense_Mutation_p.G60A|NFATC3_uc010vkm.1_Missense_Mutation_p.G60A|NFATC3_uc010vkn.1_Missense_Mutation_p.G60A|NFATC3_uc010vko.1_Missense_Mutation_p.G60A|NFATC3_uc010vkp.1_Missense_Mutation_p.G60A|NFATC3_uc010vkq.1_Missense_Mutation_p.G60A|NFATC3_uc002evl.2_Missense_Mutation_p.G60A|NFATC3_uc002evk.2_Missense_Mutation_p.G539A|NFATC3_uc002evm.1_Missense_Mutation_p.G539A|NFATC3_uc002evn.1_Missense_Mutation_p.G539A|NFATC3_uc010vkr.1_Missense_Mutation_p.G60A|NFATC3_uc010vks.1_Missense_Mutation_p.G60A|NFATC3_uc010vkt.1_Missense_Mutation_p.G60A|NFATC3_uc010vku.1_Missense_Mutation_p.G60A|NFATC3_uc010vkv.1_Missense_Mutation_p.G60A|NFATC3_uc010vkw.1_Missense_Mutation_p.G60A|NFATC3_uc010vkx.1_Missense_Mutation_p.G60A|NFATC3_uc010vky.1_Missense_Mutation_p.G60A|NFATC3_uc010vkz.1_Missense_Mutation_p.G60A|NFATC3_uc010vla.1_Missense_Mutation_p.G60A|NFATC3_uc010vlb.1_Missense_Mutation_p.G60A|NFATC3_uc010vlc.1_Missense_Mutation_p.G60A	p.G539A	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	5	1826	+		Ovarian(137;0.0563)	539			RHD.		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.1616G>C	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078076	0.94000	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.80123	-1.34;-1.34;-1.34	5.73	5.73	0.89815	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91620	0.7352	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.92072	0.5665	10	0.87932	D	0	-13.3848	20.2602	0.98440	0.0:0.0:1.0:0.0	.	539;539;539;539	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	A	539;539;539;60	ENSP00000264008:G539A;ENSP00000300659:G539A;ENSP00000331324:G539A	ENSP00000331324:G539A	G	+	2	0	NFATC3	66758261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.779000	0.99018	2.861000	0.98227	0.655000	0.94253	GGT		0.299	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		7	19	0	0	0	0	7	19				
ADAMTS18	170692	broad.mit.edu	37	16	77325197	77325197	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:77325197A>C	ENST00000282849.5	-	21	3786	c.3368T>G	c.(3367-3369)aTg>aGg	p.M1123R	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1123	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCAGCTACCATGTTGTACAC	0.502																																						uc002ffc.3		NA																	0				large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(3367-3369)ATG>AGG		ADAM metallopeptidase with thrombospondin type 1							114.0	108.0	110.0					16																	77325197		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77325197A>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3368T>G	16.37:g.77325197A>C	ENSP00000282849:p.Met1123Arg						p.M1123R	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			21	3787	-			1123			TSP type-1 5.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3368T>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	7.392	0.631047	0.14322	.	.	ENSG00000140873	ENST00000282849	T	0.58797	0.31	5.38	-1.28	0.09318	.	1.535040	0.03803	N	0.264836	T	0.36138	0.0956	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21415	-1.0246	10	0.12766	T	0.61	.	10.9365	0.47249	0.5243:0.0:0.4757:0.0	.	1123	Q8TE60	ATS18_HUMAN	R	1123	ENSP00000282849:M1123R	ENSP00000282849:M1123R	M	-	2	0	ADAMTS18	75882698	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.151000	0.16283	-0.570000	0.06022	-1.436000	0.01078	ATG		0.502	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			16	86	0	0	0	0	16	86				
WFDC1	58189	broad.mit.edu	37	16	84353096	84353096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:84353096G>A	ENST00000219454.5	+	4	807	c.481G>A	c.(481-483)Gag>Aag	p.E161K	WFDC1_ENST00000568638.1_Missense_Mutation_p.E161K	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	161					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCGGGCTATGAGTGCCACAT	0.667																																						uc002fhw.2		NA																	0				breast(1)	1						c.(481-483)GAG>AAG		WAP four-disulfide core domain 1 precursor							84.0	65.0	71.0					16																	84353096		2200	4300	6500	SO:0001583	missense	58189				negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	g.chr16:84353096G>A	AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.481G>A	16.37:g.84353096G>A	ENSP00000219454:p.Glu161Lys					WFDC1_uc002fhv.2_Missense_Mutation_p.E161K	p.E161K	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN			4	658	+			161					D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	c.481G>A	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987495	0.93106	.	.	ENSG00000103175	ENST00000219454	T	0.32753	1.44	4.43	4.43	0.53597	.	0.057722	0.64402	D	0.000002	T	0.31827	0.0809	L	0.32530	0.975	0.80722	D	1	P	0.52842	0.956	P	0.48270	0.572	T	0.07328	-1.0778	10	0.48119	T	0.1	-20.9241	15.7941	0.78394	0.0:0.0:1.0:0.0	.	161	Q9HC57	WFDC1_HUMAN	K	161	ENSP00000219454:E161K	ENSP00000219454:E161K	E	+	1	0	WFDC1	82910597	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	5.538000	0.67193	2.295000	0.77249	0.555000	0.69702	GAG		0.667	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			13	36	0	0	0	0	13	36				
FOXL1	2300	broad.mit.edu	37	16	86612542	86612542	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:86612542G>A	ENST00000320241.3	+	1	428	c.213G>A	c.(211-213)acG>acA	p.T71T		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	71					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						AGAGGGTCACGCTCAACGGCA	0.642																																					NSCLC(163;308 2020 10889 11476 18208)	uc002fjr.2		NA																	0				skin(1)	1						c.(211-213)ACG>ACA		forkhead box L1							90.0	91.0	91.0					16																	86612542		2198	4300	6498	SO:0001819	synonymous_variant	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612542G>A	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.213G>A	16.37:g.86612542G>A							p.T71T	NM_005250	NP_005241	Q12952	FOXL1_HUMAN			1	428	+			71			Fork-head.		Q17RR1|Q9H242	Silent	SNP	ENST00000320241.3	37	c.213G>A	CCDS10959.1																																																																																				0.642	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		27	72	0	0	0	0	27	72				
DEF8	54849	broad.mit.edu	37	16	90016035	90016035	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:90016035G>A	ENST00000268676.7	+	2	251	c.162G>A	c.(160-162)acG>acA	p.T54T	DEF8_ENST00000570182.1_Intron|DEF8_ENST00000418391.2_Intron|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000563594.1_Intron	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	54					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CGGGCAGGACGCGGGAGGCCA	0.677																																						uc002fpn.1		NA																	0				central_nervous_system(1)	1						c.(160-162)ACG>ACA		differentially expressed in FDCP 8 isoform 1							36.0	36.0	36.0					16																	90016035		2198	4299	6497	SO:0001819	synonymous_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90016035G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.162G>A	16.37:g.90016035G>A						DEF8_uc002fpl.2_Intron|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_Intron|DEF8_uc002fpp.1_Intron|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Intron	p.T54T	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	251	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	54					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	c.162G>A	CCDS10989.1																																																																																				0.677	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		10	48	0	0	0	0	10	48				
ZNF232	7775	broad.mit.edu	37	17	5009153	5009153	+	Missense_Mutation	SNP	C	C	T	rs200981387		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:5009153C>T	ENST00000250076.3	-	5	1955	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	ZNF232_ENST00000575898.1_Missense_Mutation_p.R425Q|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	407					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ATGAACTCTCCGATGTCTAAT	0.433																																						uc002gas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1219-1221)CGG>CAG		zinc finger protein 232		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	98.0	100.0	99.0		1301	0.5	0.0	17		99	0,8600		0,0,4300	no	missense	ZNF232	NM_014519.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	434/445	5009153	1,13005	2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009153C>T	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1301G>A	17.37:g.5009153C>T	ENSP00000250076:p.Arg434Gln					ZNF232_uc002gar.1_Missense_Mutation_p.R425Q|ZNF232_uc002gat.2_Missense_Mutation_p.R434Q	p.R407Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1974	-			407			C2H2-type 5.			Missense_Mutation	SNP	ENST00000250076.3	37	c.1220G>A	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.421399	0.00188	2.27E-4	0.0	ENSG00000167840	ENST00000250076	T	0.07444	3.19	2.98	0.461	0.16689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.286312	0.18946	N	0.126807	T	0.01320	0.0043	N	0.00178	-1.915	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.45396	-0.9264	10	0.02654	T	1	.	5.7808	0.18306	0.0:0.3251:0.0:0.6749	.	407;398	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	Q	434	ENSP00000250076:R434Q	ENSP00000250076:R434Q	R	-	2	0	ZNF232	4949877	0.000000	0.05858	0.004000	0.12327	0.215000	0.24574	-0.412000	0.07132	0.049000	0.15920	-0.355000	0.07637	CGG		0.433	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		16	67	0	0	0	0	16	67				
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	16	0	0	0	0	12	16				
CCL2	6347	broad.mit.edu	37	17	32583342	32583342	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:32583342C>A	ENST00000225831.4	+	2	243	c.178C>A	c.(178-180)Ccc>Acc	p.P60T	CCL2_ENST00000580907.1_Missense_Mutation_p.P60T|AC005549.3_ENST00000601918.1_5'Flank	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	60					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|aging (GO:0007568)|angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeleton organization (GO:0007010)|endoplasmic reticulum unfolded protein response (GO:0030968)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|helper T cell extravasation (GO:0035684)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|maternal process involved in parturition (GO:0060137)|monocyte chemotaxis (GO:0002548)|negative regulation of angiogenesis (GO:0016525)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of natural killer cell chemotaxis (GO:2000502)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|organ regeneration (GO:0031100)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of calcium ion import (GO:0090280)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of T cell activation (GO:0050870)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of vascular endothelial growth factor production (GO:0010574)|response to activity (GO:0014823)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to vitamin B3 (GO:0033552)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	CCR2 chemokine receptor binding (GO:0031727)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Danazol(DB01406)|Mimosine(DB01055)	CAGCAAGTGTCCCAAAGAAGC	0.493																																						uc002hhy.2		NA																	0				pancreas(1)	1						c.(178-180)CCC>ACC		small inducible cytokine A2 precursor	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)						94.0	89.0	91.0					17																	32583342		2203	4300	6503	SO:0001583	missense	6347				angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	g.chr17:32583342C>A	BC009716	CCDS11277.1	17q11.2-q21.1	2013-02-25	2002-08-22	2002-08-23	ENSG00000108691	ENSG00000108691		"""Chemokine ligands"", ""Endogenous ligands"""	10618	protein-coding gene	gene with protein product	"""monocyte chemotactic protein 1, homologous to mouse Sig-je"", ""monocyte chemoattractant protein-1"", ""monocyte chemotactic and activating factor"", ""monocyte secretory protein JE"", ""small inducible cytokine subfamily A (Cys-Cys), member 2"""	158105	"""small inducible cytokine A2 (monocyte chemotactic protein 1, homologous to mouse Sig-je)"""	SCYA2		2004761	Standard	NM_002982		Approved	MCP1, MCP-1, MCAF, SMC-CF, GDCF-2, HC11, MGC9434	uc002hhy.3	P13500	OTTHUMG00000132887	ENST00000225831.4:c.178C>A	17.37:g.32583342C>A	ENSP00000225831:p.Pro60Thr						p.P60T	NM_002982	NP_002973	P13500	CCL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	2	251	+	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)	60	Missing: 90% reduction in activity.|Missing: 83% reduction in activity.				B2R4V3|Q9UDF3	Missense_Mutation	SNP	ENST00000225831.4	37	c.178C>A	CCDS11277.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035784	0.54896	.	.	ENSG00000108691	ENST00000225831	T	0.04119	3.7	4.61	1.44	0.22558	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.748343	0.11939	N	0.514920	T	0.09024	0.0223	.	.	.	0.32681	N	0.515519	D	0.56521	0.976	P	0.53102	0.718	T	0.31280	-0.9949	9	0.59425	D	0.04	.	4.0332	0.09717	0.0:0.5863:0.1993:0.2145	.	60	P13500	CCL2_HUMAN	T	60	ENSP00000225831:P60T	ENSP00000225831:P60T	P	+	1	0	CCL2	29607455	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	0.366000	0.20365	0.630000	0.30394	0.491000	0.48974	CCC		0.493	CCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256384.2	NM_002982		14	30	1	0	1.36e-06	1.46e-06	14	30				
GSDMB	55876	broad.mit.edu	37	17	38073560	38073560	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:38073560C>T	ENST00000394179.1	-	2	140	c.10G>A	c.(10-12)Gta>Ata	p.V4I	GSDMB_ENST00000309481.7_Missense_Mutation_p.V4I|GSDMB_ENST00000394175.2_Missense_Mutation_p.V4I|GSDMB_ENST00000360317.3_Missense_Mutation_p.V4I|GSDMB_ENST00000520542.1_Missense_Mutation_p.V4I|GSDMB_ENST00000418519.1_Missense_Mutation_p.V4I			Q8TAX9	GSDMB_HUMAN	gasdermin B	4						cytoplasm (GO:0005737)				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TCCTCAAATACGCTGAACATT	0.433																																						uc010cwj.2		NA																	0				breast(1)|pancreas(1)	2						c.(10-12)GTA>ATA		gasdermin B isoform 1							122.0	108.0	113.0					17																	38073560		2203	4300	6503	SO:0001583	missense	55876					cytoplasm		g.chr17:38073560C>T	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.10G>A	17.37:g.38073560C>T	ENSP00000377733:p.Val4Ile					GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Missense_Mutation_p.V4I|GSDMB_uc002hth.2_Missense_Mutation_p.V4I|GSDMB_uc010wem.1_Missense_Mutation_p.V4I	p.V4I	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN			1	15	-			4					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Missense_Mutation	SNP	ENST00000394179.1	37	c.10G>A		.	.	.	.	.	.	.	.	.	.	C	0.091	-1.167683	0.01660	.	.	ENSG00000073605	ENST00000360317;ENST00000394175;ENST00000309481;ENST00000520542;ENST00000418519;ENST00000394179	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	4.27	-8.55	0.00908	.	3.191710	0.00772	N	0.001214	T	0.11580	0.0282	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.001;0.002	T	0.30090	-0.9990	9	.	.	.	.	12.0571	0.53542	0.0:0.527:0.3526:0.1205	.	4;4;4;4	B4DKK7;Q8TAX9-4;Q8TAX9-3;Q8TAX9-2	.;.;.;.	I	4	ENSP00000353465:V4I;ENSP00000377729:V4I;ENSP00000312584:V4I;ENSP00000430157:V4I;ENSP00000415049:V4I;ENSP00000377733:V4I	.	V	-	1	0	GSDMB	35327086	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.739000	0.00800	-4.282000	0.00059	-1.166000	0.01754	GTA		0.433	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		18	47	0	0	0	0	18	47				
RPS6KB1	6198	broad.mit.edu	37	17	57990070	57990070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:57990070G>A	ENST00000225577.4	+	3	238	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E73K|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E73K|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.E20K	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	73					aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGAGAAATTTGAAATCTCAGA	0.373																																						uc002ixy.2		NA																	0				large_intestine(1)	1						c.(217-219)GAA>AAA		ribosomal protein S6 kinase, 70kDa, polypeptide							106.0	106.0	106.0					17																	57990070		2203	4300	6503	SO:0001583	missense	6198				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity	g.chr17:57990070G>A	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.217G>A	17.37:g.57990070G>A	ENSP00000225577:p.Glu73Lys					RPS6KB1_uc010ddj.1_Missense_Mutation_p.E73K|RPS6KB1_uc010wom.1_Missense_Mutation_p.E20K|RPS6KB1_uc010won.1_Missense_Mutation_p.E73K|RPS6KB1_uc010woo.1_Missense_Mutation_p.E8K	p.E73K	NM_003161	NP_003152	P23443	KS6B1_HUMAN	Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)		3	320	+	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		73					B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	37	c.217G>A	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	G	36	5.681476	0.96774	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.71222	-0.55;-0.28;-0.34;-0.29	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72708	0.3494	M	0.61703	1.905	0.80722	D	1	P;B;B	0.41420	0.749;0.044;0.276	B;B;B	0.42245	0.381;0.024;0.061	T	0.70342	-0.4898	10	0.32370	T	0.25	.	19.7947	0.96474	0.0:0.0:1.0:0.0	.	73;73;73	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	K	73;73;73;20	ENSP00000441993:E73K;ENSP00000384335:E73K;ENSP00000225577:E73K;ENSP00000376744:E20K	ENSP00000225577:E73K	E	+	1	0	RPS6KB1	55344852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.348000	0.97062	2.776000	0.95493	0.650000	0.86243	GAA		0.373	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161		17	115	0	0	0	0	17	115				
HID1	283987	broad.mit.edu	37	17	72959983	72959983	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:72959983C>A	ENST00000425042.2	-	3	316	c.239G>T	c.(238-240)gGa>gTa	p.G80V	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	80					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											ACTCTCAGCTCCCTGCACCAG	0.652																																						uc002jmj.3		NA																	0					0						c.(238-240)GGA>GTA		hypothetical protein LOC283987							40.0	37.0	38.0					17																	72959983		2197	4283	6480	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72959983C>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.239G>T	17.37:g.72959983C>A	ENSP00000413520:p.Gly80Val					C17orf28_uc010wrs.1_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.G80V	p.G80V	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			3	388	-	all_lung(278;0.151)|Lung NSC(278;0.185)		80					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.239G>T	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444525	0.25987	.	.	ENSG00000167861	ENST00000425042;ENST00000534480	.	.	.	4.83	4.83	0.62350	.	0.059887	0.64402	D	0.000003	T	0.40498	0.1119	N	0.12746	0.255	0.80722	D	1	B;B	0.14012	0.009;0.0	B;B	0.18561	0.022;0.006	T	0.24621	-1.0155	9	0.14656	T	0.56	-9.6583	17.944	0.89034	0.0:1.0:0.0:0.0	.	80;80	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	V	80	.	ENSP00000413520:G80V	G	-	2	0	C17orf28	70471578	0.922000	0.31269	0.987000	0.45799	0.693000	0.40251	1.890000	0.39728	2.240000	0.73641	0.650000	0.86243	GGA		0.652	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		12	32	1	0	1.16e-05	1.23e-05	12	32				
EIF4A3	9775	broad.mit.edu	37	17	78120703	78120703	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:78120703C>G	ENST00000269349.3	-	1	279	c.58G>C	c.(58-60)Gag>Cag	p.E20Q		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	20					ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ATGTCTTCCTCTTTGAGCAGC	0.647																																						uc010wuc.1		NA																	0				ovary(1)	1						c.(58-60)GAG>CAG		eukaryotic translation initiation factor 4A,							39.0	34.0	36.0					17																	78120703		2202	4297	6499	SO:0001583	missense	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78120703C>G	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.58G>C	17.37:g.78120703C>G	ENSP00000269349:p.Glu20Gln					EIF4A3_uc002jxs.2_Missense_Mutation_p.E20Q	p.E20Q	NM_014740	NP_055555	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		2	131	-	all_neural(118;0.117)		20					Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	c.58G>C	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.183219	0.78677	.	.	ENSG00000141543	ENST00000269349	T	0.28069	1.63	5.0	5.0	0.66597	.	0.226323	0.44902	D	0.000419	T	0.24547	0.0595	L	0.38531	1.155	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.05818	-1.0862	10	0.13470	T	0.59	0.0192	15.7687	0.78146	0.0:1.0:0.0:0.0	.	20	P38919	IF4A3_HUMAN	Q	20	ENSP00000269349:E20Q	ENSP00000269349:E20Q	E	-	1	0	EIF4A3	75735298	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.539000	0.73856	2.315000	0.78130	0.561000	0.74099	GAG		0.647	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		5	38	0	0	0	0	5	38				
RPTOR	57521	broad.mit.edu	37	17	78938109	78938109	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr17:78938109G>A	ENST00000306801.3	+	34	4349	c.3987G>A	c.(3985-3987)tcG>tcA	p.S1329S	CTD-2561B21.3_ENST00000571591.1_RNA|CTD-2561B21.5_ENST00000576234.1_RNA|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.S1171S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1329					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|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(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCGTGTACTCGGTGGAGAAGC	0.652																																						uc002jyt.1		NA																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(3985-3987)TCG>TCA		raptor isoform 1							114.0	86.0	95.0					17																	78938109		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78938109G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3987G>A	17.37:g.78938109G>A						RPTOR_uc010wug.1_Silent_p.S1171S|RPTOR_uc002jyu.1_Silent_p.S222S	p.S1329S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			34	4792	+			1329			WD 7.		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.3987G>A	CCDS11773.1																																																																																				0.652	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		19	36	0	0	0	0	19	36				
ADCYAP1	116	broad.mit.edu	37	18	908272	908272	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:908272C>G	ENST00000579794.1	+	3	527	c.249C>G	c.(247-249)gtC>gtG	p.V83V	RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA|RP11-672L10.2_ENST00000577358.1_RNA|ADCYAP1_ENST00000450565.3_Silent_p.V83V	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	83					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TTAGAGATGTCGCCCACGGGA	0.677																																						uc010dkg.2		NA																	0					0						c.(247-249)GTC>GTG		adenylate cyclase activating polypeptide							23.0	23.0	23.0					18																	908272		2203	4297	6500	SO:0001819	synonymous_variant	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:908272C>G	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.249C>G	18.37:g.908272C>G						ADCYAP1_uc010dkh.2_Silent_p.V83V	p.V83V	NM_001099733	NP_001093203	P18509	PACA_HUMAN			4	368	+			83					B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	c.249C>G	CCDS11825.1																																																																																				0.677	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		3	20	0	0	0	0	3	20				
ASXL3	80816	broad.mit.edu	37	18	31325516	31325516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:31325516C>G	ENST00000269197.5	+	12	5704	c.5704C>G	c.(5704-5706)Ccc>Gcc	p.P1902A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1902					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCGGCTGCTCCCCTCGTGTAG	0.498																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(5704-5706)CCC>GCC		additional sex combs like 3							135.0	138.0	137.0					18																	31325516		2020	4173	6193	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325516C>G	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5704C>G	18.37:g.31325516C>G	ENSP00000269197:p.Pro1902Ala					ASXL3_uc002kxq.2_Missense_Mutation_p.P1609A	p.P1902A	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5759	+			1902					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5704C>G	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092766	0.56075	.	.	ENSG00000141431	ENST00000269197	T	0.30182	1.54	5.59	5.59	0.84812	.	.	.	.	.	T	0.45915	0.1366	L	0.27053	0.805	0.47153	D	0.999338	D	0.76494	0.999	D	0.80764	0.994	T	0.44667	-0.9313	9	0.66056	D	0.02	.	19.5908	0.95509	0.0:1.0:0.0:0.0	.	1902	Q9C0F0	ASXL3_HUMAN	A	1902	ENSP00000269197:P1902A	ENSP00000269197:P1902A	P	+	1	0	ASXL3	29579514	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	4.056000	0.57448	2.619000	0.88677	0.655000	0.94253	CCC		0.498	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			6	93	0	0	0	0	6	93				
SETBP1	26040	broad.mit.edu	37	18	42529990	42529990	+	Nonsense_Mutation	SNP	G	G	T	rs143196787	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:42529990G>T	ENST00000282030.5	+	4	981	c.685G>T	c.(685-687)Gga>Tga	p.G229*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	229						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTCTGACAGCGGACCCGTCAC	0.547									Schinzel-Giedion syndrome																													uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(685-687)GGA>TGA		SET binding protein 1 isoform a							86.0	79.0	81.0					18																	42529990		2203	4300	6503	SO:0001587	stop_gained	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42529990G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.685G>T	18.37:g.42529990G>T	ENSP00000282030:p.Gly229*						p.G229*	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	981	+			229					A6H8W5|Q6P6C3|Q9UEF3	Nonsense_Mutation	SNP	ENST00000282030.5	37	c.685G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	37	6.388442	0.97529	.	.	ENSG00000152217	ENST00000282030	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	.	.	.	X	229	.	ENSP00000282030:G229X	G	+	1	0	SETBP1	40783988	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.472000	0.80996	2.813000	0.96785	0.655000	0.94253	GGA		0.547	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		7	44	1	0	0.000157383	0.000164919	7	44				
CXXC1	30827	broad.mit.edu	37	18	47811188	47811188	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:47811188C>T	ENST00000285106.6	-	8	1648	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.E312K|CXXC1_ENST00000412036.2_Missense_Mutation_p.E312K	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	312	Asp/Glu-rich (acidic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AATGGGGACTCTTCTGTGTCG	0.587																																						uc002leq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(934-936)GAG>AAG		CXXC finger 1 (PHD domain) isoform 2							95.0	82.0	86.0					18																	47811188		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47811188C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.934G>A	18.37:g.47811188C>T	ENSP00000285106:p.Glu312Lys					CXXC1_uc002lep.3_Missense_Mutation_p.E169K|CXXC1_uc002ler.3_Missense_Mutation_p.E312K|CXXC1_uc010doy.2_Missense_Mutation_p.E312K|CXXC1_uc002les.2_Missense_Mutation_p.E312K	p.E312K	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			8	1667	-			312			Asp/Glu-rich (acidic).		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.934G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471616	0.63737	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23552	1.9;1.9	4.38	4.38	0.52667	.	0.121063	0.53938	D	0.000053	T	0.11239	0.0274	N	0.02539	-0.55	0.46011	D	0.998815	B;B;B;B	0.11235	0.002;0.004;0.002;0.001	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.13548	-1.0505	10	0.22706	T	0.39	-28.8413	14.7889	0.69824	0.0:1.0:0.0:0.0	.	312;312;312;179	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	K	312	ENSP00000285106:E312K;ENSP00000390475:E312K	ENSP00000285106:E312K	E	-	1	0	CXXC1	46065186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.868000	0.75516	2.166000	0.68216	0.549000	0.68633	GAG		0.587	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		4	18	0	0	0	0	4	18				
CXXC1	30827	broad.mit.edu	37	18	47811201	47811201	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:47811201C>T	ENST00000285106.6	-	8	1635	c.921G>A	c.(919-921)atG>atA	p.M307I	CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.M307I|CXXC1_ENST00000412036.2_Missense_Mutation_p.M307I	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	307	Asp/Glu-rich (acidic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTGTGTCGCTCATCCAGGGCT	0.587																																						uc002leq.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(919-921)ATG>ATA		CXXC finger 1 (PHD domain) isoform 2							87.0	75.0	79.0					18																	47811201		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47811201C>T	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.921G>A	18.37:g.47811201C>T	ENSP00000285106:p.Met307Ile					CXXC1_uc002lep.3_Missense_Mutation_p.M164I|CXXC1_uc002ler.3_Missense_Mutation_p.M307I|CXXC1_uc010doy.2_Missense_Mutation_p.M307I|CXXC1_uc002les.2_Missense_Mutation_p.M307I	p.M307I	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN			8	1654	-			307			Asp/Glu-rich (acidic).		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.921G>A	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	8.775	0.926856	0.18056	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.21191	2.02;2.02	4.29	4.29	0.51040	.	0.541353	0.19369	N	0.115956	T	0.12135	0.0295	N	0.14661	0.345	0.30621	N	0.758533	B;B;B;B	0.20780	0.028;0.048;0.028;0.015	B;B;B;B	0.16289	0.005;0.015;0.005;0.003	T	0.06338	-1.0832	10	0.31617	T	0.26	-23.2639	10.6548	0.45669	0.0:0.8045:0.1955:0.0	.	307;307;307;174	B2RC03;Q9P0U4-2;Q9P0U4;Q59EC8	.;.;CXXC1_HUMAN;.	I	307	ENSP00000285106:M307I;ENSP00000390475:M307I	ENSP00000285106:M307I	M	-	3	0	CXXC1	46065199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.749000	0.26320	2.121000	0.65114	0.549000	0.68633	ATG		0.587	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		5	17	0	0	0	0	5	17				
CCDC68	80323	broad.mit.edu	37	18	52571634	52571634	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr18:52571634G>A	ENST00000591504.1	-	12	1237	c.963C>T	c.(961-963)acC>acT	p.T321T	CCDC68_ENST00000432185.1_Silent_p.T321T|CCDC68_ENST00000337363.4_Silent_p.T321T	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	321										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AAACACCTTCGGTCTTCAATT	0.368																																						uc002lfs.2		NA																	0				skin(1)	1						c.(961-963)ACC>ACT		coiled-coil domain containing 68							92.0	86.0	88.0					18																	52571634		2203	4300	6503	SO:0001819	synonymous_variant	80323							g.chr18:52571634G>A		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.963C>T	18.37:g.52571634G>A						CCDC68_uc002lft.2_Silent_p.T321T	p.T321T	NM_001143829	NP_001137301	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	12	1135	-			321					B2R9I3	Silent	SNP	ENST00000591504.1	37	c.963C>T	CCDS11959.1																																																																																				0.368	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		7	23	0	0	0	0	7	23				
MBD3	53615	broad.mit.edu	37	19	1581180	1581180	+	Silent	SNP	G	G	C	rs376503261		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:1581180G>C	ENST00000434436.3	-	5	717	c.588C>G	c.(586-588)ctC>ctG	p.L196L	AC005943.4_ENST00000592406.1_RNA|MBD3_ENST00000592012.1_Silent_p.L164L|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000590550.2_Silent_p.L140L|MBD3_ENST00000156825.1_Silent_p.L196L|MBD3_ENST00000585967.1_5'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	196					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGGCCGAGAGCTGTCCCG	0.652																																						uc002ltl.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(586-588)CTC>CTG		methyl-CpG binding domain protein 3		G		0,4406		0,0,2203	87.0	68.0	74.0		588	-1.2	0.9	19		74	1,8599		0,1,4299	no	coding-synonymous	MBD3	NM_003926.5		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		196/292	1581180	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1581180G>C	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.588C>G	19.37:g.1581180G>C						MBD3_uc002ltj.2_Silent_p.L196L|MBD3_uc002ltk.2_Silent_p.L164L	p.L196L	NM_003926	NP_003917	O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	610	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	196					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	ENST00000434436.3	37	c.588C>G	CCDS12072.1																																																																																				0.652	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		5	14	0	0	0	0	5	14				
TNFSF14	8740	broad.mit.edu	37	19	6670018	6670018	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:6670018G>A	ENST00000599359.1	-	2	444	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TNFSF14_ENST00000245912.3_Silent_p.F21F|TNFSF14_ENST00000326176.9_Silent_p.F21F			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	21					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCAGCCTCGTGAATGGGATGT	0.642																																						uc002mfk.1		NA																	0				skin(1)	1						c.(61-63)TTC>TTT		tumor necrosis factor ligand superfamily, member							133.0	107.0	116.0					19																	6670018		2203	4300	6503	SO:0001819	synonymous_variant	8740				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6670018G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.63C>T	19.37:g.6670018G>A						TNFSF14_uc002mfj.1_Silent_p.F21F	p.F21F	NM_003807	NP_003798	O43557	TNF14_HUMAN			2	445	-			21			Cytoplasmic (Potential).		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Silent	SNP	ENST00000599359.1	37	c.63C>T	CCDS12171.1																																																																																				0.642	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			19	80	0	0	0	0	19	80				
NDUFA7	4701	broad.mit.edu	37	19	8381382	8381382	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:8381382C>G	ENST00000301457.2	-	3	286	c.249G>C	c.(247-249)gaG>gaC	p.E83D	NDUFA7_ENST00000598884.1_Missense_Mutation_p.E83D	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	83					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						ATCCTCACCTCTCTGCTGGCT	0.587																																						uc002mjm.1		NA																	0					0						c.(247-249)GAG>GAC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						70.0	77.0	74.0					19																	8381382		2100	4230	6330	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381382C>G	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.249G>C	19.37:g.8381382C>G	ENSP00000301457:p.Glu83Asp						p.E83D	NM_005001	NP_004992	O95182	NDUA7_HUMAN			3	287	-			83						Missense_Mutation	SNP	ENST00000301457.2	37	c.249G>C	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	C	7.961	0.746991	0.15710	.	.	ENSG00000167774	ENST00000301457	T	0.46451	0.87	5.24	2.93	0.34026	.	0.404235	0.23949	N	0.042977	T	0.24431	0.0592	L	0.27053	0.805	0.35079	D	0.763214	B	0.09022	0.002	B	0.10450	0.005	T	0.13522	-1.0506	10	0.31617	T	0.26	-21.9203	3.4705	0.07565	0.1676:0.5688:0.1625:0.1011	.	83	O95182	NDUA7_HUMAN	D	83	ENSP00000301457:E83D	ENSP00000301457:E83D	E	-	3	2	NDUFA7	8287382	0.999000	0.42202	0.856000	0.33681	0.367000	0.29736	0.670000	0.25157	0.575000	0.29434	0.561000	0.74099	GAG		0.587	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		15	82	0	0	0	0	15	82				
KEAP1	9817	broad.mit.edu	37	19	10610149	10610149	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:10610149G>A	ENST00000171111.5	-	2	1108	c.561C>T	c.(559-561)atC>atT	p.I187I	KEAP1_ENST00000393623.2_Silent_p.I187I|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	187	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CGAAGTTGGCGATGCCGATGG	0.592																																						uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(559-561)ATC>ATT		kelch-like ECH-associated protein 1							105.0	84.0	91.0					19																	10610149		2203	4300	6503	SO:0001819	synonymous_variant	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610149G>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.561C>T	19.37:g.10610149G>A						KEAP1_uc002mor.1_Silent_p.I187I	p.I187I	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	717	-			187			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	ENST00000171111.5	37	c.561C>T	CCDS12239.1																																																																																				0.592	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		4	44	0	0	0	0	4	44				
ZNF653	115950	broad.mit.edu	37	19	11598248	11598248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:11598248C>T	ENST00000293771.5	-	4	1166	c.1030G>A	c.(1030-1032)Ggt>Agt	p.G344S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	344					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.G344C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCGGGGACACCGCTGCCTGCT	0.657																																					Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)GGT>AGT		zinc finger protein 653							66.0	55.0	59.0					19																	11598248		2203	4300	6503	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11598248C>T	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1030G>A	19.37:g.11598248C>T	ENSP00000293771:p.Gly344Ser						p.G344S	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			4	1083	-			344					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.1030G>A	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	0.702	-0.790513	0.02884	.	.	ENSG00000161914	ENST00000293771	T	0.11604	2.76	3.06	-3.54	0.04653	.	0.362141	0.20271	N	0.095675	T	0.02688	0.0081	N	0.04508	-0.205	0.30370	N	0.782964	B	0.32350	0.366	B	0.18871	0.023	T	0.48456	-0.9034	10	0.09338	T	0.73	-2.3948	8.0961	0.30829	0.0:0.5547:0.0:0.4453	.	344	Q96CK0	ZN653_HUMAN	S	344	ENSP00000293771:G344S	ENSP00000293771:G344S	G	-	1	0	ZNF653	11459248	0.000000	0.05858	0.172000	0.22920	0.082000	0.17680	-2.957000	0.00674	-0.711000	0.04995	0.462000	0.41574	GGT		0.657	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		26	24	0	0	0	0	26	24				
SYCE2	256126	broad.mit.edu	37	19	13029104	13029104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:13029104C>A	ENST00000293695.7	-	2	81	c.63G>T	c.(61-63)ttG>ttT	p.L21F	MIR5695_ENST00000579717.1_RNA	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	21					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGCTCTCCCCCAAGGGCTGCG	0.602																																						uc002mvr.2		NA																	0					0						c.(61-63)TTG>TTT		synaptonemal complex central element protein 2							81.0	88.0	85.0					19																	13029104		2111	4224	6335	SO:0001583	missense	256126				cell division	central element		g.chr19:13029104C>A	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.63G>T	19.37:g.13029104C>A	ENSP00000293695:p.Leu21Phe						p.L21F	NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN			2	78	-			21					B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	c.63G>T	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618330	0.46736	.	.	ENSG00000161860	ENST00000293695	.	.	.	3.46	2.37	0.29283	.	1.368030	0.05179	N	0.501057	T	0.30603	0.0770	L	0.36672	1.1	0.09310	N	1	P	0.43701	0.815	B	0.39258	0.295	T	0.29640	-1.0005	9	0.62326	D	0.03	-0.0084	7.7204	0.28729	0.2637:0.7363:0.0:0.0	.	21	Q6PIF2	SYCE2_HUMAN	F	21	.	ENSP00000293695:L21F	L	-	3	2	SYCE2	12890104	0.000000	0.05858	0.006000	0.13384	0.056000	0.15407	0.239000	0.18023	0.960000	0.38005	0.561000	0.74099	TTG		0.602	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451913.1	XM_497609		13	41	1	0	1.05e-09	1.14e-09	13	41				
B3GNT3	10331	broad.mit.edu	37	19	17922878	17922878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:17922878G>A	ENST00000318683.6	+	3	1213	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D356N	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	356					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCTCATGTGGGATGCGCTGAA	0.587																																						uc002nhk.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(1066-1068)GAT>AAT		UDP-GlcNAc:betaGal							57.0	50.0	52.0					19																	17922878		2203	4297	6500	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922878G>A	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.1066G>A	19.37:g.17922878G>A	ENSP00000321874:p.Asp356Asn					B3GNT3_uc002nhl.1_Missense_Mutation_p.D356N|B3GNT3_uc010ebd.1_Missense_Mutation_p.D356N|B3GNT3_uc010ebe.1_Missense_Mutation_p.D356N	p.D356N	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			3	1151	+			356			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.1066G>A	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420408	0.25639	.	.	ENSG00000179913	ENST00000318683	T	0.41065	1.01	5.13	4.03	0.46877	.	0.488207	0.20923	N	0.083254	T	0.20740	0.0499	N	0.17674	0.51	0.36907	D	0.890717	B	0.11235	0.004	B	0.13407	0.009	T	0.16247	-1.0409	10	0.02654	T	1	.	6.4731	0.22020	0.0974:0.1858:0.7167:0.0	.	356	Q9Y2A9	B3GN3_HUMAN	N	356	ENSP00000321874:D356N	ENSP00000321874:D356N	D	+	1	0	B3GNT3	17783878	0.977000	0.34250	0.993000	0.49108	0.841000	0.47740	0.883000	0.28200	2.404000	0.81709	0.491000	0.48974	GAT		0.587	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		21	45	0	0	0	0	21	45				
LSM4	25804	broad.mit.edu	37	19	18420497	18420497	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:18420497C>T	ENST00000593829.1	-	4	572	c.319G>A	c.(319-321)Gct>Act	p.A107T	LSM4_ENST00000252816.6_Missense_Mutation_p.A93T	NM_001252129.1|NM_012321.4	NP_001239058.1|NP_036453.1	Q9Y4Z0	LSM4_HUMAN	LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae)	107					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U6 snRNP (GO:0005688)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|lung(3)	6						CCTCGGCCAGCGCCGCCCATG	0.682																																						uc002niq.2		NA																	0					0						c.(319-321)GCT>ACT		U6 snRNA-associated Sm-like protein 4							27.0	27.0	27.0					19																	18420497		2202	4297	6499	SO:0001583	missense	25804				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding	g.chr19:18420497C>T	AF117235	CCDS12374.1, CCDS62601.1	19p13.1	2008-02-05				ENSG00000130520			17259	protein-coding gene	gene with protein product		607284				10369684, 10523320	Standard	NM_012321		Approved	YER112W	uc002niq.3	Q9Y4Z0		ENST00000593829.1:c.319G>A	19.37:g.18420497C>T	ENSP00000469468:p.Ala107Thr						p.A107T	NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN			4	490	-			107						Missense_Mutation	SNP	ENST00000593829.1	37	c.319G>A	CCDS12374.1	.	.	.	.	.	.	.	.	.	.	c	17.98	3.520059	0.64747	.	.	ENSG00000130520	ENST00000252816	.	.	.	4.39	3.35	0.38373	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.291466	0.37483	N	0.002066	T	0.42787	0.1218	L	0.29908	0.895	0.45806	D	0.998688	B	0.14438	0.01	B	0.06405	0.002	T	0.24154	-1.0168	9	0.30854	T	0.27	-8.0054	11.2102	0.48793	0.0:0.9099:0.0:0.0901	.	107	Q9Y4Z0	LSM4_HUMAN	T	107	.	ENSP00000252816:A107T	A	-	1	0	LSM4	18281497	0.916000	0.31088	0.922000	0.36590	0.673000	0.39480	1.913000	0.39956	0.982000	0.38575	0.457000	0.33378	GCT		0.682	LSM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466321.1			9	40	0	0	0	0	9	40				
HAPLN4	404037	broad.mit.edu	37	19	19372352	19372352	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:19372352G>A	ENST00000291481.7	-	2	87	c.24C>T	c.(22-24)ctC>ctT	p.L8L	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	8					cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CGCCGGGACCGAGGGCCGCCC	0.766																																						uc002nmb.2		NA																	0				pancreas(1)	1						c.(22-24)CTC>CTT		hyaluronan and proteoglycan link protein 4							5.0	5.0	5.0					19																	19372352		2014	3777	5791	SO:0001819	synonymous_variant	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19372352G>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.24C>T	19.37:g.19372352G>A						HAPLN4_uc002nmc.2_Silent_p.L8L	p.L8L	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		2	79	-			8					A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	37	c.24C>T	CCDS12398.1																																																																																				0.766	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		4	10	0	0	0	0	4	10				
C19orf47	126526	broad.mit.edu	37	19	40842076	40842076	+	Missense_Mutation	SNP	C	C	T	rs374413956		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:40842076C>T	ENST00000582783.1	-	4	286	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	Y_RNA_ENST00000384551.1_RNA|C19orf47_ENST00000392035.2_Missense_Mutation_p.V25M	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	92						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			ACCACGGTCACGCCCAGCTCA	0.572																																						uc002oni.3		NA																	0				ovary(1)|skin(1)	2						c.(274-276)GTG>ATG		hypothetical protein LOC126526		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	160.0	123.0	135.0		73	5.6	1.0	19		135	0,8600		0,0,4300	no	missense	C19orf47	NM_178830.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	25/356	40842076	1,13005	2203	4300	6503	SO:0001583	missense	126526							g.chr19:40842076C>T	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.274G>A	19.37:g.40842076C>T	ENSP00000463159:p.Val92Met					C19orf47_uc002ong.2_Translation_Start_Site|C19orf47_uc002onh.2_Missense_Mutation_p.V25M	p.V92M	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		4	275	-			92					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.274G>A	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205716	0.39003	2.27E-4	0.0	ENSG00000160392	ENST00000357884;ENST00000392035	.	.	.	5.6	5.6	0.85130	Sterile alpha motif/pointed domain (2);	0.057514	0.64402	D	0.000001	T	0.67487	0.2898	L	0.57536	1.79	0.48185	D	0.999602	D	0.76494	0.999	D	0.64042	0.921	T	0.69899	-0.5020	9	0.72032	D	0.01	-12.6849	8.6802	0.34203	0.0:0.837:0.0:0.163	.	92	Q8N9M1	CS047_HUMAN	M	92;25	.	ENSP00000350556:V92M	V	-	1	0	C19orf47	45533916	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.522000	0.67092	2.625000	0.88918	0.561000	0.74099	GTG		0.572	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		6	41	0	0	0	0	6	41				
CEACAM6	4680	broad.mit.edu	37	19	42260722	42260722	+	Silent	SNP	C	C	T	rs376555378		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:42260722C>T	ENST00000199764.6	+	2	497	c.279C>T	c.(277-279)ccC>ccT	p.P93P	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	93	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CCCCAGGGCCCGCATACAGTG	0.458																																						uc002orm.2		NA																	0				ovary(1)	1						c.(277-279)CCC>CCT		carcinoembryonic antigen-related cell adhesion							276.0	262.0	267.0					19																	42260722		2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260722C>T	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.279C>T	19.37:g.42260722C>T							p.P93P	NM_002483	NP_002474	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	428	+			93			Ig-like V-type.		Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.279C>T	CCDS12585.1																																																																																				0.458	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			72	103	0	0	0	0	72	103				
PSG1	5669	broad.mit.edu	37	19	43382154	43382154	+	Missense_Mutation	SNP	C	C	T	rs142473373		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:43382154C>T	ENST00000436291.2	-	2	457	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	PSG1_ENST00000595356.1_Missense_Mutation_p.R114Q|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Missense_Mutation_p.R114Q|PSG1_ENST00000403380.3_Missense_Mutation_p.R114Q|PSG1_ENST00000595124.1_Missense_Mutation_p.R114Q|PSG1_ENST00000244296.2_Missense_Mutation_p.R114Q	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	114	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATT	0.453																																						uc002ovb.2		NA																	0				ovary(2)	2						c.(340-342)CGG>CAG		pregnancy specific beta-1-glycoprotein 1		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4402		0,0,2201	305.0	282.0	290.0		341,341,341	-3.3	0.0	19	dbSNP_134	290	2,8596		0,2,4297	no	missense,missense,missense	PSG1	NM_001184825.1,NM_001184826.1,NM_006905.2	43,43,43	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	,,	114/420,114/418,114/427	43382154	2,12998	2201	4299	6500	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43382154C>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.341G>A	19.37:g.43382154C>T	ENSP00000413041:p.Arg114Gln					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.R114Q|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.R114Q|PSG1_uc010eio.1_Missense_Mutation_p.R114Q|PSG1_uc002oux.1_Missense_Mutation_p.R43Q|PSG1_uc002ouy.1_Missense_Mutation_p.R114Q|PSG1_uc002ouz.1_Missense_Mutation_p.R114Q|PSG1_uc002ova.1_Missense_Mutation_p.R114Q|PSG1_uc002ovc.2_Missense_Mutation_p.R114Q|PSG1_uc002ovd.1_Missense_Mutation_p.R114Q	p.R114Q	NM_006905	NP_008836	P11464	PSG1_HUMAN			2	479	-		Prostate(69;0.00682)	114			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.341G>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.935665	0.00484	0.0	2.33E-4	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	1.64	-3.28	0.05033	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.22936	0.0554	N	0.01242	-0.935	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.17038	0.007;0.0;0.0;0.0;0.0;0.0;0.02;0.007;0.0	B;B;B;B;B;B;B;B;B	0.17979	0.009;0.001;0.0;0.001;0.001;0.002;0.02;0.014;0.005	T	0.11155	-1.0599	9	0.09843	T	0.71	.	2.5465	0.04738	0.4063:0.323:0.0:0.2707	.	114;114;114;114;114;114;114;114;114	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	Q	114	ENSP00000413041:R114Q;ENSP00000385386:R114Q;ENSP00000308970:R114Q;ENSP00000244296:R114Q	ENSP00000244296:R114Q	R	-	2	0	PSG1	48073994	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.936000	0.00685	-1.892000	0.01108	-1.109000	0.02080	CGG		0.453	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			149	136	0	0	0	0	149	136				
HIF3A	64344	broad.mit.edu	37	19	46832529	46832529	+	Silent	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:46832529C>G	ENST00000377670.4	+	12	1537	c.1506C>G	c.(1504-1506)ctC>ctG	p.L502L	HIF3A_ENST00000472815.1_Intron|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000339613.2_Silent_p.L446L|HIF3A_ENST00000420102.2_Silent_p.L451L|HIF3A_ENST00000244303.6_Silent_p.L433L|HIF3A_ENST00000600383.1_Silent_p.L433L|HIF3A_ENST00000300862.3_Silent_p.L500L	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	502	NTAD.|ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ACTTCCAGCTCAACGCCAGCG	0.632																																						uc002peh.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1504-1506)CTC>CTG		hypoxia inducible factor 3, alpha subunit							71.0	69.0	69.0					19																	46832529		2203	4300	6503	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46832529C>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1506C>G	19.37:g.46832529C>G						HIF3A_uc002peg.3_Silent_p.L502L|HIF3A_uc002pei.3_Silent_p.L446L|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Silent_p.L446L|HIF3A_uc010xxy.1_Silent_p.L433L|HIF3A_uc002pel.2_Silent_p.L500L|HIF3A_uc010xxz.1_Silent_p.L451L	p.L502L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	12	1535	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	502			NTAD.|ODD.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.1506C>G	CCDS12681.2																																																																																				0.632	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			17	81	0	0	0	0	17	81				
NUCB1	4924	broad.mit.edu	37	19	49422529	49422529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:49422529G>A	ENST00000405315.4	+	10	1322	c.988G>A	c.(988-990)Ggg>Agg	p.G330R	NUCB1_ENST00000407032.1_Missense_Mutation_p.G330R|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Missense_Mutation_p.G330R|NUCB1-AS1_ENST00000416432.1_RNA	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	330						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TGGGGACACCGGGGAGGGCTG	0.577																																						uc002plb.3		NA																	0					0						c.(988-990)GGG>AGG		nucleobindin 1 precursor							44.0	49.0	47.0					19																	49422529		2203	4300	6503	SO:0001583	missense	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49422529G>A	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.988G>A	19.37:g.49422529G>A	ENSP00000385923:p.Gly330Arg					NUCB1_uc002pla.2_Missense_Mutation_p.G330R|NUCB1_uc002plc.2_Missense_Mutation_p.G330R|NUCB1_uc002pld.2_5'UTR	p.G330R	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	10	1060	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	330					B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	c.988G>A	CCDS12740.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720161	0.30503	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	T;T;T	0.17854	2.25;2.25;2.25	4.47	4.47	0.54385	.	0.437153	0.19449	N	0.113967	T	0.14313	0.0346	L	0.29908	0.895	0.31851	N	0.622283	B;P	0.51240	0.196;0.943	B;B	0.40228	0.026;0.323	T	0.06643	-1.0815	10	0.54805	T	0.06	.	15.4382	0.75162	0.0:0.0:1.0:0.0	.	330;330	Q02818;Q53GX6	NUCB1_HUMAN;.	R	330	ENSP00000385923:G330R;ENSP00000385211:G330R;ENSP00000263273:G330R	ENSP00000263273:G330R	G	+	1	0	NUCB1	54114341	1.000000	0.71417	0.789000	0.31954	0.010000	0.07245	5.089000	0.64492	2.432000	0.82394	0.591000	0.81541	GGG		0.577	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		6	37	0	0	0	0	6	37				
CCDC155	147872	broad.mit.edu	37	19	49910549	49910549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:49910549C>T	ENST00000447857.3	+	11	1134	c.929C>T	c.(928-930)tCt>tTt	p.S310F		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	310						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACCATCCTCTCTGAGGTAAGG	0.572																																						uc002pnm.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(928-930)TCT>TTT		coiled-coil domain containing 155							46.0	51.0	49.0					19																	49910549		1873	4118	5991	SO:0001583	missense	147872					integral to membrane	calcium ion binding	g.chr19:49910549C>T		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.929C>T	19.37:g.49910549C>T	ENSP00000404220:p.Ser310Phe					CCDC155_uc010emx.1_Missense_Mutation_p.S283F	p.S310F	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN			11	1103	+			310			Potential.		Q96MC3	Missense_Mutation	SNP	ENST00000447857.3	37	c.929C>T	CCDS46140.1	.	.	.	.	.	.	.	.	.	.	c	15.80	2.941661	0.53079	.	.	ENSG00000161609	ENST00000447857	T	0.35048	1.33	4.42	4.42	0.53409	.	0.566979	0.18275	N	0.146218	T	0.52354	0.1729	M	0.72118	2.19	0.30371	N	0.782929	D;D	0.58620	0.983;0.983	P;P	0.56700	0.804;0.804	T	0.56950	-0.7894	10	0.62326	D	0.03	-16.6132	13.3039	0.60340	0.0:1.0:0.0:0.0	.	310;310	C9JGW3;Q8N6L0	.;CC155_HUMAN	F	310	ENSP00000404220:S310F	ENSP00000404220:S310F	S	+	2	0	CCDC155	54602361	0.924000	0.31332	0.989000	0.46669	0.250000	0.25880	2.239000	0.43079	2.411000	0.81874	0.550000	0.68814	TCT		0.572	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		3	21	0	0	0	0	3	21				
NAPSA	9476	broad.mit.edu	37	19	50861932	50861932	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:50861932A>T	ENST00000253719.2	-	9	1349	c.1141T>A	c.(1141-1143)Tat>Aat	p.Y381N	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	381					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACGGCCACATACGTCCCCAAG	0.677																																						uc002prx.2		NA																	0					0						c.(1141-1143)TAT>AAT		napsin A preproprotein							26.0	27.0	27.0					19																	50861932		2202	4299	6501	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50861932A>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1141T>A	19.37:g.50861932A>T	ENSP00000253719:p.Tyr381Asn					NR1H2_uc002prv.3_Intron	p.Y381N	NM_004851	NP_004842	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	9	1194	-		all_neural(266;0.057)	381					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.1141T>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259975	0.59321	.	.	ENSG00000131400	ENST00000253719	T	0.34275	1.37	3.24	0.172	0.15031	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.261537	0.38959	N	0.001515	T	0.43875	0.1267	M	0.85630	2.765	0.52501	D	0.999952	P	0.50369	0.934	P	0.47864	0.559	T	0.43032	-0.9416	10	0.87932	D	0	.	6.4123	0.21698	0.6274:0.0:0.3726:0.0	.	381	O96009	NAPSA_HUMAN	N	381	ENSP00000253719:Y381N	ENSP00000253719:Y381N	Y	-	1	0	NAPSA	55553744	0.435000	0.25577	0.039000	0.18376	0.677000	0.39632	2.612000	0.46343	0.019000	0.15079	0.260000	0.18958	TAT		0.677	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		4	13	0	0	0	0	4	13				
ZNF667	63934	broad.mit.edu	37	19	56953259	56953259	+	Silent	SNP	G	G	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr19:56953259G>T	ENST00000504904.3	-	7	1824	c.1105C>A	c.(1105-1107)Cgg>Agg	p.R369R	ZNF667_ENST00000292069.6_Silent_p.R369R|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.R497R			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTTGAAAGCCGCCTGAAGAAC	0.378																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(1105-1107)CGG>AGG		zinc finger protein 667							77.0	84.0	81.0					19																	56953259		2203	4299	6502	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953259G>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1105C>A	19.37:g.56953259G>T						ZNF667_uc010etl.2_Silent_p.R151R|ZNF667_uc002qne.2_Silent_p.R369R|ZNF667_uc010etm.2_Silent_p.R312R	p.R369R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1267	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	369			C2H2-type 7.		B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.1105C>A	CCDS12944.1																																																																																				0.378	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		24	24	1	0	7.93e-12	8.76e-12	24	24				
ASXL2	55252	broad.mit.edu	37	2	25978930	25978930	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:25978930G>A	ENST00000435504.4	-	10	1286	c.993C>T	c.(991-993)ttC>ttT	p.F331F	ASXL2_ENST00000336112.4_Silent_p.F303F|ASXL2_ENST00000404843.1_Silent_p.F71F|ASXL2_ENST00000272341.4_Silent_p.F71F			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	331					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.F71L(1)|p.F331L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGAAGTGAAGAATTCATTGT	0.453																																						uc002rgs.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	pancreas(1)	1						c.(991-993)TTC>TTT		additional sex combs like 2							130.0	127.0	128.0					2																	25978930		1886	4114	6000	SO:0001819	synonymous_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25978930G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.993C>T	2.37:g.25978930G>A						ASXL2_uc002rgt.1_Silent_p.F71F	p.F331F	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			9	1214	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		331					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37	c.993C>T																																																																																					0.453	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		12	76	0	0	0	0	12	76				
CENPA	1058	broad.mit.edu	37	2	27015013	27015013	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27015013C>T	ENST00000335756.4	+	2	315	c.115C>T	c.(115-117)Caa>Taa	p.Q39*	CENPA_ENST00000233505.8_Nonsense_Mutation_p.Q39*|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	39					CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCTCCCATCAACACAGTCG	0.512																																					Pancreas(28;769 878 30250 30578 41330)	uc002rhr.2		NA																	0					0						c.(115-117)CAA>TAA		centromere protein A isoform a							62.0	59.0	60.0					2																	27015013		2203	4300	6503	SO:0001587	stop_gained	1058				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	g.chr2:27015013C>T	U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"""centromere-specific histone"", ""histone H3-like centromeric protein A"""	117139	"""centromere protein A (17kD)"", ""centromere protein A, 17kDa"""				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.115C>T	2.37:g.27015013C>T	ENSP00000336868:p.Gln39*					CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Nonsense_Mutation_p.Q39*	p.Q39*	NM_001809	NP_001800	P49450	CENPA_HUMAN			2	298	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		39					D6W544|Q53T74|Q9BVW2	Nonsense_Mutation	SNP	ENST00000335756.4	37	c.115C>T	CCDS1729.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.054191	0.55218	.	.	ENSG00000115163	ENST00000335756;ENST00000233505	.	.	.	4.18	3.29	0.37713	.	1.012530	0.07986	U	0.986357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.9214	0.41466	0.0:0.792:0.208:0.0	.	.	.	.	X	39	.	ENSP00000233505:Q39X	Q	+	1	0	CENPA	26868517	0.002000	0.14202	0.002000	0.10522	0.002000	0.02628	0.838000	0.27572	0.733000	0.32492	-0.182000	0.12963	CAA		0.512	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214190.2	NM_001809		7	16	0	0	0	0	7	16				
CAD	790	broad.mit.edu	37	2	27463149	27463149	+	Missense_Mutation	SNP	G	G	A	rs199572743		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27463149G>A	ENST00000403525.1	+	34	5468	c.5324G>A	c.(5323-5325)cGc>cAc	p.R1775H	CAD_ENST00000264705.4_Missense_Mutation_p.R1838H			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAGACCCCGCCGTGGCATC	0.567																																						uc002rji.2		NA																	0				ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(5512-5514)CGC>CAC		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						103.0	115.0	111.0					2																	27463149		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27463149G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.5324G>A	2.37:g.27463149G>A	ENSP00000384510:p.Arg1775His					CAD_uc010eyw.2_Missense_Mutation_p.R1775H	p.R1838H	NM_004341	NP_004332	P27708	PYR1_HUMAN			35	5675	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1838			Linker.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.5513G>A		.	.	.	.	.	.	.	.	.	.	G	18.34	3.602657	0.66445	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98362	-4.89;-4.83	5.28	5.28	0.74379	.	0.120124	0.53938	D	0.000045	D	0.97158	0.9071	L	0.39898	1.24	0.51233	D	0.999913	D;P	0.63046	0.992;0.928	P;B	0.51016	0.656;0.288	D	0.96542	0.9401	10	0.33141	T	0.24	-6.6265	16.4322	0.83853	0.0:0.0:1.0:0.0	.	1775;1838	F8VPD4;P27708	.;PYR1_HUMAN	H	1838;1775	ENSP00000264705:R1838H;ENSP00000384510:R1775H	ENSP00000264705:R1838H	R	+	2	0	CAD	27316653	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.863000	0.62983	2.474000	0.83562	0.555000	0.69702	CGC		0.567	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			15	112	0	0	0	0	15	112				
SLC30A3	7781	broad.mit.edu	37	2	27480162	27480162	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:27480162C>T	ENST00000233535.4	-	5	989	c.637G>A	c.(637-639)Gag>Aag	p.E213K	SLC30A3_ENST00000447008.2_Missense_Mutation_p.E208K	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	213					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCATACTCTGCTCCCCTA	0.672																																						uc002rjk.2		NA																	0					0						c.(637-639)GAG>AAG		solute carrier family 30 (zinc transporter),							23.0	25.0	24.0					2																	27480162		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27480162C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.637G>A	2.37:g.27480162C>T	ENSP00000233535:p.Glu213Lys					SLC30A3_uc002rjj.2_Silent_p.Q58Q|SLC30A3_uc010ylh.1_Missense_Mutation_p.E208K	p.E213K	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			5	823	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		213			Cytoplasmic (Potential).		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.637G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388990	0.42308	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870;ENST00000432351;ENST00000426924	T;T;T;T	0.77229	-0.11;-0.12;-1.07;-1.08	5.23	5.23	0.72850	.	0.056787	0.64402	D	0.000002	T	0.60392	0.2265	N	0.08118	0	0.44852	D	0.997868	B;B	0.15141	0.012;0.005	B;B	0.22152	0.017;0.038	T	0.56517	-0.7966	10	0.12766	T	0.61	-10.5303	16.6802	0.85290	0.0:1.0:0.0:0.0	.	208;213	F5H3B7;Q99726	.;ZNT3_HUMAN	K	213;208;150;164;200	ENSP00000233535:E213K;ENSP00000415226:E208K;ENSP00000414320:E164K;ENSP00000393545:E200K	ENSP00000233535:E213K	E	-	1	0	SLC30A3	27333666	0.174000	0.23070	0.997000	0.53966	0.792000	0.44763	2.669000	0.46825	2.605000	0.88082	0.555000	0.69702	GAG		0.672	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			8	17	0	0	0	0	8	17				
STRN	6801	broad.mit.edu	37	2	37078179	37078179	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:37078179C>T	ENST00000263918.4	-	16	2058	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	STRN_ENST00000379213.2_Missense_Mutation_p.E635K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	684					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGCCTGTCTTCATGAGCAGTG	0.328																																						uc002rpn.2		NA																	0				skin(1)	1						c.(2050-2052)GAA>AAA		striatin, calmodulin binding protein							102.0	99.0	100.0					2																	37078179		2203	4300	6503	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37078179C>T	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.2050G>A	2.37:g.37078179C>T	ENSP00000263918:p.Glu684Lys					STRN_uc010ezx.2_Missense_Mutation_p.E647K	p.E684K	NM_003162	NP_003153	O43815	STRN_HUMAN			16	2059	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	684			WD 4.		Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.2050G>A	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	C	35	5.584706	0.96578	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.29397	1.57;1.57	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64746	0.2626	M	0.89715	3.055	0.80722	D	1	D;D	0.64830	0.994;0.993	D;D	0.66847	0.947;0.928	T	0.68823	-0.5307	10	0.54805	T	0.06	-23.5695	20.2562	0.98421	0.0:1.0:0.0:0.0	.	635;684	O43815-2;O43815	.;STRN_HUMAN	K	684;659;635	ENSP00000263918:E684K;ENSP00000368513:E635K	ENSP00000263918:E684K	E	-	1	0	STRN	36931683	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	GAA		0.328	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1			14	64	0	0	0	0	14	64				
SLC8A1	6546	broad.mit.edu	37	2	40656665	40656665	+	Silent	SNP	C	C	G	rs374251379		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:40656665C>G	ENST00000403092.1	-	2	789	c.756G>C	c.(754-756)gcG>gcC	p.A252A	SLC8A1_ENST00000405901.3_Silent_p.A252A|SLC8A1_ENST00000402441.1_Silent_p.A252A|SLC8A1_ENST00000542024.1_Silent_p.A252A|SLC8A1_ENST00000408028.2_Silent_p.A252A|SLC8A1_ENST00000405269.1_Silent_p.A252A|SLC8A1_ENST00000406785.2_Silent_p.A252A|SLC8A1_ENST00000332839.4_Silent_p.A252A|SLC8A1_ENST00000406391.2_Silent_p.A252A|SLC8A1_ENST00000542756.1_Silent_p.A252A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	252					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCTCCTATCCGCTACCCAAG	0.443																																						uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(754-756)GCG>GCC		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						91.0	93.0	93.0					2																	40656665		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656665C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.756G>C	2.37:g.40656665C>G						SLC8A1_uc002rry.2_Silent_p.A252A|SLC8A1_uc002rrz.2_Silent_p.A252A|SLC8A1_uc002rsa.2_Silent_p.A252A|SLC8A1_uc002rsd.3_Silent_p.A252A|SLC8A1_uc002rsb.1_Silent_p.A252A|SLC8A1_uc010fan.1_Silent_p.A252A|SLC8A1_uc002rsc.1_Silent_p.A252A	p.A252A	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	780	-			252			Helical; (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.756G>C	CCDS1806.1																																																																																				0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		18	107	0	0	0	0	18	107				
ATP6V1E2	90423	broad.mit.edu	37	2	46739793	46739793	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:46739793C>G	ENST00000306448.4	-	2	1171	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E20Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	20					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTCCTGCTCAATGAAAGCC	0.507																																						uc002ruy.2		NA																	0				ovary(1)|skin(1)	2						c.(58-60)GAG>CAG		ATPase, H+ transporting, lysosomal 31kDa, V1							111.0	99.0	103.0					2																	46739793		2203	4300	6503	SO:0001583	missense	90423				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	g.chr2:46739793C>G	BC008981	CCDS1826.1	2p21	2011-02-10	2006-01-13	2002-06-21	ENSG00000250565	ENSG00000250565		"""ATPases / V-type"""	18125	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD-like 2"", ""ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 2"""	ATP6EL2, ATP6V1EL2		12036578	Standard	NM_080653		Approved	MGC9341, VMA4, ATP6E1	uc002ruy.3	Q96A05	OTTHUMG00000128819	ENST00000306448.4:c.58G>C	2.37:g.46739793C>G	ENSP00000304891:p.Glu20Gln					ATP6V1E2_uc002ruz.2_Missense_Mutation_p.E20Q	p.E20Q	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		2	1172	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	20						Missense_Mutation	SNP	ENST00000306448.4	37	c.58G>C	CCDS1826.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424343	0.83667	.	.	ENSG00000250565	ENST00000306448;ENST00000522587	.	.	.	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	M	0.79258	2.445	0.80722	D	1	D	0.57571	0.98	P	0.62740	0.906	T	0.78532	-0.2168	9	0.72032	D	0.01	-28.8396	12.0934	0.53739	0.0:1.0:0.0:0.0	.	20	Q96A05	VATE2_HUMAN	Q	20	.	ENSP00000304891:E20Q	E	-	1	0	ATP6V1E2	46593297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.259000	0.78381	2.549000	0.85964	0.655000	0.94253	GAG		0.507	ATP6V1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250753.1	NM_080653		10	53	0	0	0	0	10	53				
MSH2	4436	broad.mit.edu	37	2	47656948	47656948	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:47656948C>T	ENST00000233146.2	+	7	1367	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	MSH2_ENST00000543555.1_Missense_Mutation_p.R316C|MSH2_ENST00000406134.1_Missense_Mutation_p.R382C	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	382					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATTTACTTCGTCGATTCCC	0.343			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rvy.1		NA	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	D|Mis|N|F|S	mutS homolog 2 (E. coli)			E		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		4	Whole gene deletion(2)|Unknown(2)	p.?(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)	large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55						c.(1144-1146)CGT>TGT	MMR	mutS homolog 2							83.0	82.0	82.0					2																	47656948		2203	4300	6503	SO:0001583	missense	4436	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47656948C>T	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1144C>T	2.37:g.47656948C>T	ENSP00000233146:p.Arg382Cys					MSH2_uc010yoh.1_Missense_Mutation_p.R316C|MSH2_uc002rvz.2_Missense_Mutation_p.R382C|MSH2_uc010fbg.2_Missense_Mutation_p.R192C	p.R382C	NM_000251	NP_000242	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	1212	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	382					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1144C>T	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.960007	0.92791	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000432737;ENST00000453755;ENST00000422810;ENST00000413880	D;D;D	0.91843	-2.92;-2.92;-2.92	5.69	5.69	0.88448	DNA mismatch repair protein MutS, core (3);	0.047870	0.85682	D	0.000000	D	0.96506	0.8860	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.995	D;D;D	0.64877	0.93;0.93;0.927	D	0.96713	0.9527	10	0.87932	D	0	-1.0502	19.802	0.96511	0.0:1.0:0.0:0.0	.	316;382;382	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	C	382;316;382;382;382;382;32;168	ENSP00000233146:R382C;ENSP00000442697:R316C;ENSP00000384199:R382C	ENSP00000233146:R382C	R	+	1	0	MSH2	47510452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.334000	0.65923	2.687000	0.91594	0.651000	0.88453	CGT		0.343	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			10	44	0	0	0	0	10	44				
LRRTM1	347730	broad.mit.edu	37	2	80530153	80530153	+	Silent	SNP	C	C	G	rs377231458		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:80530153C>G	ENST00000295057.3	-	2	1448	c.792G>C	c.(790-792)tcG>tcC	p.S264S	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.S264S	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	264					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCTCGTTGCCCGACAAGTCCA	0.607										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(790-792)TCG>TCC		leucine rich repeat transmembrane neuronal 1							78.0	77.0	77.0					2																	80530153		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530153C>G	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.792G>C	2.37:g.80530153C>G		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.S264S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1062	-			264			LRR 8.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.792G>C	CCDS1966.1																																																																																				0.607	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		8	44	0	0	0	0	8	44				
LRRTM1	347730	broad.mit.edu	37	2	80530267	80530267	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:80530267G>A	ENST00000295057.3	-	2	1334	c.678C>T	c.(676-678)ttC>ttT	p.F226F	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.F226F	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	226					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGAAGTGGGCGAAGTTCACCT	0.582										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(676-678)TTC>TTT		leucine rich repeat transmembrane neuronal 1							114.0	109.0	111.0					2																	80530267		2203	4300	6503	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530267G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.678C>T	2.37:g.80530267G>A		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.F226F	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	948	-			226			LRR 6.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.678C>T	CCDS1966.1																																																																																				0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		17	87	0	0	0	0	17	87				
KYNU	8942	broad.mit.edu	37	2	143798151	143798151	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:143798151G>A	ENST00000264170.4	+	13	1454	c.1196G>A	c.(1195-1197)cGg>cAg	p.R399Q	KYNU_ENST00000409512.1_Missense_Mutation_p.R399Q	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GTAGAGGAGCGGGGGTGCCAG	0.408																																						uc002tvl.2		NA																	0				skin(2)	2						c.(1195-1197)CGG>CAG		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						70.0	65.0	67.0					2																	143798151		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143798151G>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1196G>A	2.37:g.143798151G>A	ENSP00000264170:p.Arg399Gln					KYNU_uc010fnm.2_Missense_Mutation_p.R399Q	p.R399Q	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	13	1326	+			399						Missense_Mutation	SNP	ENST00000264170.4	37	c.1196G>A	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727311	0.69074	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.58060	0.36;0.36	5.63	5.63	0.86233	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051351	0.85682	D	0.000000	T	0.82084	0.4960	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87103	0.2180	10	0.87932	D	0	.	19.6765	0.95936	0.0:0.0:1.0:0.0	.	399	Q16719	KYNU_HUMAN	Q	399	ENSP00000264170:R399Q;ENSP00000386731:R399Q	ENSP00000264170:R399Q	R	+	2	0	KYNU	143514621	1.000000	0.71417	0.030000	0.17652	0.068000	0.16541	9.167000	0.94773	2.644000	0.89710	0.655000	0.94253	CGG		0.408	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		9	48	0	0	0	0	9	48				
RIF1	55183	broad.mit.edu	37	2	152293769	152293769	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:152293769C>T	ENST00000243326.5	+	12	1870	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.P463S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGGAACATCCGTTAATCAG	0.338																																						uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(1387-1389)CCG>TCG		RAP1 interacting factor 1							103.0	100.0	101.0					2																	152293769		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152293769C>T	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1387C>T	2.37:g.152293769C>T	ENSP00000243326:p.Pro463Ser					RIF1_uc002txl.2_Missense_Mutation_p.P463S|RIF1_uc010fnv.1_Missense_Mutation_p.P427S|RIF1_uc002txn.2_Missense_Mutation_p.P463S|RIF1_uc002txo.2_Missense_Mutation_p.P463S|RIF1_uc010zby.1_RNA	p.P463S	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	13	1517	+			463					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.1387C>T	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.987|9.987	1.229742|1.229742	0.22542|0.22542	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.11277|.	2.79;2.79;2.79;2.79;2.79|.	5.45|5.45	3.59|3.59	0.41128|0.41128	.|.	0.208412|.	0.51477|.	N|.	0.000095|.	T|T	0.63558|0.63558	0.2521|0.2521	M|M	0.67953|0.67953	2.075|2.075	0.80722|0.80722	D|D	1|1	P;P|.	0.45474|.	0.859;0.677|.	B;B|.	0.43838|.	0.433;0.336|.	T|T	0.60326|0.60326	-0.7285|-0.7285	10|5	0.46703|.	T|.	0.11|.	-0.2163|-0.2163	9.5722|9.5722	0.39436|0.39436	0.0:0.7613:0.0:0.2387|0.0:0.7613:0.0:0.2387	.|.	463;463|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	S|F	463|454	ENSP00000390181:P463S;ENSP00000414615:P463S;ENSP00000415691:P463S;ENSP00000243326:P463S;ENSP00000416123:P463S|.	ENSP00000243326:P463S|.	P|S	+|+	1|2	0|0	RIF1|RIF1	152002015|152002015	0.997000|0.997000	0.39634|0.39634	0.759000|0.759000	0.31340|0.31340	0.013000|0.013000	0.08279|0.08279	0.717000|0.717000	0.25851|0.25851	0.733000|0.733000	0.32492|0.32492	0.460000|0.460000	0.39030|0.39030	CCG|TCC		0.338	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			11	52	0	0	0	0	11	52				
PLA2R1	22925	broad.mit.edu	37	2	160801458	160801458	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:160801458G>A	ENST00000283243.7	-	28	4309	c.4103C>T	c.(4102-4104)cCg>cTg	p.P1368L	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1368	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTCTTGACACGGGGATAGCTG	0.428																																						uc002ube.1		NA																	0				skin(2)|ovary(1)	3						c.(4102-4104)CCG>CTG		phospholipase A2 receptor 1 isoform 1 precursor							138.0	136.0	137.0					2																	160801458		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801458G>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4103C>T	2.37:g.160801458G>A	ENSP00000283243:p.Pro1368Leu					PLA2R1_uc010zcp.1_Missense_Mutation_p.P1366L	p.P1368L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			28	4310	-			1368			Extracellular (Potential).|C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.4103C>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655685	0.29425	.	.	ENSG00000153246	ENST00000283243	T	0.19394	2.15	5.76	4.89	0.63831	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.284156	0.34133	N	0.004222	T	0.31544	0.0800	L	0.56199	1.76	0.80722	D	1	B;D	0.54207	0.012;0.965	B;P	0.51657	0.017;0.676	T	0.03175	-1.1064	10	0.46703	T	0.11	.	13.7189	0.62714	0.0714:0.0:0.9286:0.0	.	1366;1368	B7ZML4;Q13018	.;PLA2R_HUMAN	L	1368	ENSP00000283243:P1368L	ENSP00000283243:P1368L	P	-	2	0	PLA2R1	160509704	0.975000	0.34042	0.133000	0.22050	0.366000	0.29705	3.290000	0.51755	1.589000	0.49982	-0.126000	0.14955	CCG		0.428	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			12	92	0	0	0	0	12	92				
SCN1A	6323	broad.mit.edu	37	2	166856246	166856246	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:166856246A>G	ENST00000303395.4	-	22	4324	c.4325T>C	c.(4324-4326)gTt>gCt	p.V1442A	SCN1A_ENST00000375405.3_Missense_Mutation_p.V1431A|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.V1442A|SCN1A_ENST00000409050.1_Missense_Mutation_p.V1414A			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1442					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)	TCTGGAATCAACTGCTGCATA	0.308																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(4291-4293)GTT>GCT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						174.0	170.0	171.0					2																	166856246		2203	4292	6495	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166856246A>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.4325T>C	2.37:g.166856246A>G	ENSP00000303540:p.Val1442Ala					SCN1A_uc002udo.3_Missense_Mutation_p.V1311A|SCN1A_uc010fpk.2_Missense_Mutation_p.V1283A	p.V1431A	NM_006920	NP_008851	P35498	SCN1A_HUMAN			22	4310	-			1442			III.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4292T>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.389354	0.61956	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.31	5.31	0.75309	Ion transport (1);	0.142464	0.43919	D	0.000514	D	0.98823	0.9603	M	0.91768	3.24	0.53005	D	0.99996	B;B;P	0.39831	0.024;0.226;0.69	B;B;P	0.51170	0.049;0.207;0.661	D	0.99841	1.1062	10	0.87932	D	0	.	15.5581	0.76216	1.0:0.0:0.0:0.0	.	1431;1414;1442	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	A	1442;1442;1431;1414	ENSP00000407030:V1442A;ENSP00000303540:V1442A;ENSP00000364554:V1431A;ENSP00000386312:V1414A	ENSP00000303540:V1442A	V	-	2	0	SCN1A	166564492	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.284000	0.95882	2.135000	0.66039	0.383000	0.25322	GTT		0.308	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		12	84	0	0	0	0	12	84				
LRP2	4036	broad.mit.edu	37	2	170101321	170101321	+	Silent	SNP	G	G	A	rs188152163		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:170101321G>A	ENST00000263816.3	-	22	3597	c.3312C>T	c.(3310-3312)caC>caT	p.H1104H	LRP2_ENST00000443831.1_Silent_p.H967H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1104					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AAGCAGGTGCGTGGGTGGGGC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		19995	0.001		0.0	False		,,,				2504	0.0					uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3310-3312)CAC>CAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	G		0,4406		0,0,2203	238.0	185.0	203.0		3312	-12.1	0.0	2		203	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP2	NM_004525.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1104/4656	170101321	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101321G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3312C>T	2.37:g.170101321G>A						LRP2_uc010zdf.1_Silent_p.H967H	p.H1104H	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3525	-			1104			Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3312C>T	CCDS2232.1																																																																																				0.537	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		16	97	0	0	0	0	16	97				
GORASP2	26003	broad.mit.edu	37	2	171806117	171806117	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:171806117C>G	ENST00000234160.4	+	3	1028	c.213C>G	c.(211-213)atC>atG	p.I71M	GORASP2_ENST00000452526.2_Missense_Mutation_p.I83M|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	71	PDZ.				mitotic cell cycle (GO:0000278)|organelle organization (GO:0006996)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AGATGCTTATCTATAGCAGCA	0.438																																						uc002ugk.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(211-213)ATC>ATG		golgi reassembly stacking protein 2							107.0	105.0	105.0					2																	171806117		2203	4300	6503	SO:0001583	missense	26003					Golgi membrane		g.chr2:171806117C>G		CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806			17500	protein-coding gene	gene with protein product		608693	"""golgi reassembly stacking protein 2, 55 kDa"""			10487747	Standard	NM_015530		Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.213C>G	2.37:g.171806117C>G	ENSP00000234160:p.Ile71Met					GORASP2_uc002ugj.2_Missense_Mutation_p.I3M|GORASP2_uc010zdl.1_Missense_Mutation_p.I83M|GORASP2_uc010zdm.1_Missense_Mutation_p.I27M|GORASP2_uc002ugl.2_Missense_Mutation_p.I3M	p.I71M	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN			3	353	+			71			PDZ.		B4DKT0|Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	Missense_Mutation	SNP	ENST00000234160.4	37	c.213C>G	CCDS33325.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349610	0.82132	.	.	ENSG00000115806	ENST00000234160;ENST00000452526	T;T	0.35236	1.32;1.32	6.16	6.16	0.99307	PDZ/DHR/GLGF (2);	0.095360	0.64402	D	0.000001	T	0.49541	0.1563	L	0.50333	1.59	0.46586	D	0.99911	D;D;P	0.58268	0.963;0.982;0.939	P;P;P	0.61275	0.828;0.886;0.777	T	0.47249	-0.9132	10	0.87932	D	0	-15.4857	10.9827	0.47504	0.122:0.6504:0.2276:0.0	.	27;83;71	B4DNR1;B4DKT0;Q9H8Y8	.;.;GORS2_HUMAN	M	71;83	ENSP00000234160:I71M;ENSP00000410208:I83M	ENSP00000234160:I71M	I	+	3	3	GORASP2	171514363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.224000	0.32539	2.937000	0.99478	0.650000	0.86243	ATC		0.438	GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333719.2			9	59	0	0	0	0	9	59				
HAT1	8520	broad.mit.edu	37	2	172809472	172809472	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:172809472C>T	ENST00000264108.4	+	4	298	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R3C	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	88					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AACAATGTTCCGTGTTGAATA	0.313																																						uc002uhi.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(262-264)CGT>TGT		histone acetyltransferase 1							113.0	110.0	111.0					2																	172809472		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172809472C>T	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.262C>T	2.37:g.172809472C>T	ENSP00000264108:p.Arg88Cys					HAT1_uc010fqi.2_Intron|HAT1_uc002uhj.2_Missense_Mutation_p.R3C	p.R88C	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		4	338	+			88					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.262C>T	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071775	0.76301	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	4.93	4.93	0.64822	Histone acetyl transferase HAT1 N-terminal (2);Acyl-CoA N-acyltransferase (1);	0.220156	0.47852	D	0.000218	T	0.63343	0.2503	L	0.38175	1.15	0.58432	D	0.999998	D	0.71674	0.998	P	0.55713	0.782	T	0.67995	-0.5526	9	0.87932	D	0	-17.9821	18.1062	0.89520	0.0:1.0:0.0:0.0	.	88	O14929	HAT1_HUMAN	C	3;88	.	ENSP00000264108:R88C	R	+	1	0	HAT1	172517718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.577000	0.67444	2.439000	0.82584	0.462000	0.41574	CGT		0.313	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		10	45	0	0	0	0	10	45				
TTN	7273	broad.mit.edu	37	2	179403830	179403830	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:179403830C>G	ENST00000591111.1	-	303	94133	c.93909G>C	c.(93907-93909)tgG>tgC	p.W31303C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W30376C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W32944C|TTN_ENST00000342175.6_Missense_Mutation_p.W24071C|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24004C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W23879C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31303	Fibronectin type-III 128. {ECO:0000255|PROSITE-ProRule:PRU00316}.			W -> V (in Ref. 1; CAA62188 and 14; CAA45938/CAA49245). {ECO:0000305}.	adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTCTGACCCACTTGTCAG	0.498																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(91126-91128)TGG>TGC		titin isoform N2-A							244.0	249.0	247.0					2																	179403830		2145	4244	6389	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179403830C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93909G>C	2.37:g.179403830C>G	ENSP00000465570:p.Trp31303Cys					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W24071C|TTN_uc010zfi.1_Missense_Mutation_p.W24004C|TTN_uc010zfj.1_Missense_Mutation_p.W23879C	p.W30376C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		302	91352	-			31303					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.91128G>C		.	.	.	.	.	.	.	.	.	.	C	17.05	3.288607	0.59976	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.05	6.05	0.98169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83184	0.5199	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85819	0.1384	9	0.87932	D	0	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	23879;24004;24071;31303	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	30376;23879;24071;24004;23876	ENSP00000343764:W30376C;ENSP00000434586:W23879C;ENSP00000340554:W24071C;ENSP00000352154:W24004C	ENSP00000340554:W24071C	W	-	3	0	TTN	179112076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.878000	0.98634	0.650000	0.86243	TGG		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	57	0	0	0	0	9	57				
TTN	7273	broad.mit.edu	37	2	179424911	179424911	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:179424911A>G	ENST00000591111.1	-	276	81249	c.81025T>C	c.(81025-81027)Ttc>Ctc	p.F27009L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F26082L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F28650L|TTN_ENST00000342175.6_Missense_Mutation_p.F19777L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F19710L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F19585L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27009					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGGTAGGAACACTGGATCT	0.463																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(78244-78246)TTC>CTC		titin isoform N2-A							110.0	109.0	109.0					2																	179424911		1914	4118	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424911A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81025T>C	2.37:g.179424911A>G	ENSP00000465570:p.Phe27009Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.F19777L|TTN_uc010zfi.1_Missense_Mutation_p.F19710L|TTN_uc010zfj.1_Missense_Mutation_p.F19585L	p.F26082L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	78468	-			27009					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.78244T>C		.	.	.	.	.	.	.	.	.	.	A	16.89	3.248587	0.59103	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.08	6.08	0.98989	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.69178	0.3082	M	0.76574	2.34	0.53005	D	0.99996	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.70716	0.97;0.97;0.97;0.97	T	0.72581	-0.4250	9	0.87932	D	0	.	16.643	0.85134	1.0:0.0:0.0:0.0	.	19585;19710;19777;27009	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	26082;19585;19777;19710;19582	ENSP00000343764:F26082L;ENSP00000434586:F19585L;ENSP00000340554:F19777L;ENSP00000352154:F19710L	ENSP00000340554:F19777L	F	-	1	0	TTN	179133157	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.190000	0.72057	2.330000	0.79161	0.533000	0.62120	TTC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	65	0	0	0	0	17	65				
DNAH7	56171	broad.mit.edu	37	2	196891589	196891589	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:196891589C>G	ENST00000312428.6	-	7	662	c.562G>C	c.(562-564)Gta>Cta	p.V188L	DNAH7_ENST00000410072.1_Missense_Mutation_p.V188L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	188	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATCCAGTACGTGTTCTAGC	0.353																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(562-564)GTA>CTA		dynein, axonemal, heavy chain 7							139.0	131.0	134.0					2																	196891589		1872	4097	5969	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196891589C>G	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.562G>C	2.37:g.196891589C>G	ENSP00000311273:p.Val188Leu						p.V188L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			7	663	-			188			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.562G>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304824	0.81247	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.25749	1.78;2.64	5.92	5.92	0.95590	.	0.076658	0.52532	D	0.000076	T	0.31167	0.0788	L	0.52573	1.65	0.53688	D	0.999971	P	0.45240	0.854	B	0.41510	0.359	T	0.02942	-1.1091	10	0.59425	D	0.04	.	19.9123	0.97029	0.0:1.0:0.0:0.0	.	188	Q8WXX0	DYH7_HUMAN	L	188	ENSP00000311273:V188L;ENSP00000386260:V188L	ENSP00000311273:V188L	V	-	1	0	DNAH7	196599834	0.937000	0.31787	0.117000	0.21633	0.790000	0.44656	1.631000	0.37092	2.801000	0.96364	0.650000	0.86243	GTA		0.353	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	42	0	0	0	0	3	42				
PSMD1	5707	broad.mit.edu	37	2	231947609	231947609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:231947609G>A	ENST00000308696.6	+	13	1588	c.1426G>A	c.(1426-1428)Ggt>Agt	p.G476S	PSMD1_ENST00000409643.1_Missense_Mutation_p.G476S|PSMD1_ENST00000373635.4_Missense_Mutation_p.G476S	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	476					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CGTTAGACACGGTGGCAGTCT	0.373																																						uc002vrn.1		NA																	0				ovary(1)|skin(1)	2						c.(1426-1428)GGT>AGT		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						112.0	107.0	109.0					2																	231947609		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231947609G>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1426G>A	2.37:g.231947609G>A	ENSP00000309474:p.Gly476Ser					PSMD1_uc002vrm.1_Missense_Mutation_p.G476S|PSMD1_uc010fxu.1_Missense_Mutation_p.G340S	p.G476S	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	13	1557	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	476			PC 3.		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1426G>A	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191259	0.94923	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.31510	1.49;1.49;1.49	5.96	5.96	0.96718	Armadillo-like helical (1);Armadillo-type fold (1);	0.088068	0.85682	D	0.000000	T	0.67785	0.2930	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.74542	-0.3631	10	0.87932	D	0	-17.2732	20.422	0.99049	0.0:0.0:1.0:0.0	.	476;476	Q99460;Q99460-2	PSMD1_HUMAN;.	S	476	ENSP00000309474:G476S;ENSP00000362738:G476S;ENSP00000386932:G476S	ENSP00000309474:G476S	G	+	1	0	PSMD1	231655853	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	9.727000	0.98787	2.832000	0.97577	0.655000	0.94253	GGT		0.373	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			4	28	0	0	0	0	4	28				
RAMP1	10267	broad.mit.edu	37	2	238785963	238785963	+	Silent	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:238785963C>A	ENST00000254661.4	+	2	282	c.150C>A	c.(148-150)gcC>gcA	p.A50A	RAMP1_ENST00000404910.2_Silent_p.A28A|RAMP1_ENST00000409726.1_Silent_p.A28A|RAMP1_ENST00000403885.1_Silent_p.A28A	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	50					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	ACATGGAGGCCGTCGGGGAGA	0.657																																					NSCLC(177;211 2889 43936 50767)	uc002vxj.2		NA																	0					0						c.(148-150)GCC>GCA		receptor activity-modifying protein 1 precursor	Pramlintide(DB01278)						89.0	84.0	86.0					2																	238785963		2203	4300	6503	SO:0001819	synonymous_variant	10267				intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity	g.chr2:238785963C>A	AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"""Receptor (G protein-coupled) activity modifying proteins"""	9843	protein-coding gene	gene with protein product		605153	"""receptor activity modifying protein 1"", ""receptor (calcitonin) activity modifying protein 1"""				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.150C>A	2.37:g.238785963C>A							p.A50A	NM_005855	NP_005846	O60894	RAMP1_HUMAN		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	2	282	+		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	50			Extracellular (Potential).		Q6FGS5	Silent	SNP	ENST00000254661.4	37	c.150C>A	CCDS2522.1																																																																																				0.657	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257166.2	NM_005855		19	61	1	0	1.02e-10	1.11e-10	19	61				
SCLY	51540	broad.mit.edu	37	2	239003069	239003069	+	Silent	SNP	C	C	T	rs149428035		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:239003069C>T	ENST00000555827.1	+	10	1078	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	SCLY_ENST00000422984.2_Silent_p.F244F|SCLY_ENST00000254663.6_Silent_p.F346F|SCLY_ENST00000429612.2_Silent_p.F132F			Q96I15	SCLY_HUMAN	selenocysteine lyase	338					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		AGGCTGAATTCGGTCAGAAGA	0.448																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	uc010fyv.2		NA																	0				ovary(2)	2						c.(1012-1014)TTC>TTT		selenocysteine lyase				0,4406		0,0,2203	87.0	97.0	93.0		1038	0.9	0.4	2	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCLY	NM_016510.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		346/454	239003069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:239003069C>T	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.1014C>T	2.37:g.239003069C>T						SCLY_uc002vxm.3_Silent_p.F305F|SCLY_uc002vxn.2_3'UTR|SCLY_uc010znq.1_Silent_p.F132F|SCLY_uc010znr.1_Silent_p.F244F|SCLY_uc002vxp.3_5'Flank	p.F338F	NM_016510	NP_057594	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	10	1078	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	338					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Silent	SNP	ENST00000555827.1	37	c.1014C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.213|0.213	-1.035304|-1.035304	0.02029|0.02029	0.0|0.0	1.16E-4|1.16E-4	ENSG00000132330|ENSG00000132330	ENST00000412508;ENST00000437134|ENST00000433750	.|.	.|.	.|.	4.83|4.83	0.951|0.951	0.19579|0.19579	.|.	.|.	.|.	.|.	.|.	T|T	0.54367|0.54367	0.1854|0.1854	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42137|0.42137	-0.9469|-0.9469	4|4	.|.	.|.	.|.	-20.884|-20.884	7.3647|7.3647	0.26766|0.26766	0.0:0.2654:0.0:0.7346|0.0:0.2654:0.0:0.7346	.|.	.|.	.|.	.|.	W|L	133;154|80	.|.	.|.	R|S	+|+	1|2	2|0	SCLY|SCLY	238667808|238667808	0.994000|0.994000	0.37717|0.37717	0.412000|0.412000	0.26496|0.26496	0.026000|0.026000	0.11368|0.11368	0.103000|0.103000	0.15292|0.15292	-0.069000|-0.069000	0.12931|0.12931	-0.329000|-0.329000	0.08387|0.08387	CGG|TCG		0.448	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_016510		5	93	0	0	0	0	5	93				
MYEOV2	150678	broad.mit.edu	37	2	241066179	241066179	+	Missense_Mutation	SNP	C	C	T	rs140948790		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:241066179C>T	ENST00000307266.3	-	5	559	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTGGTTCTTCCGTAAACTGTT	0.483																																						uc002vyu.1		NA																	0					0						c.(559-561)CGG>CAG		hypothetical protein LOC150678 isoform 1		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	252.0	249.0	250.0		560	-2.3	0.0	2	dbSNP_134	250	0,8600		0,0,4300	yes	missense	MYEOV2	NM_138336.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	187/253	241066179	1,13005	2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066179C>T	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.560G>A	2.37:g.241066179C>T	ENSP00000304147:p.Arg187Gln						p.R187Q	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	560	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Error:Variant_position_missing_in_Q8WXC6_after_alignment					Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	c.560G>A	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	C	2.668	-0.278154	0.05679	2.27E-4	0.0	ENSG00000172428	ENST00000307266	.	.	.	1.94	-2.27	0.06846	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26121	-1.0112	7	0.87932	D	0	.	5.9522	0.19253	0.0:0.508:0.0:0.492	.	187	Q8WXC6-1	.	Q	187	.	ENSP00000304147:R187Q	R	-	2	0	MYEOV2	240714852	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.337000	0.02657	-0.577000	0.05967	-0.474000	0.04947	CGG		0.483	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		17	117	0	0	0	0	17	117				
SNED1	25992	broad.mit.edu	37	2	241987826	241987826	+	Silent	SNP	C	C	T	rs377147382		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr2:241987826C>T	ENST00000310397.8	+	9	1368	c.1368C>T	c.(1366-1368)ccC>ccT	p.P456P	SNED1_ENST00000401884.1_Silent_p.P456P|SNED1_ENST00000405547.3_Silent_p.P456P|SNED1_ENST00000342631.6_Silent_p.P456P|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	456	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCGAGTGCCCCGAAGGCTTCA	0.662																																						uc002wah.1		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1366-1368)CCC>CCT		6720455I24Rik homolog precursor		C		3,4201		0,3,2099	34.0	40.0	38.0		1368	-9.4	0.3	2		38	0,8452		0,0,4226	no	coding-synonymous	SNED1	NM_001080437.1		0,3,6325	TT,TC,CC		0.0,0.0714,0.0237		456/1414	241987826	3,12653	2102	4226	6328	SO:0001819	synonymous_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241987826C>T	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1368C>T	2.37:g.241987826C>T							p.P456P	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	9	1368	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	456			EGF-like 5.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	c.1368C>T	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.968|8.968	0.972133|0.972133	0.18736|0.18736	7.14E-4|7.14E-4	0.0|0.0	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401644	D|.	0.94497|.	-3.44|.	4.72|4.72	-9.44|-9.44	0.00603|0.00603	.|.	0.113457|.	0.39759|.	N|.	0.001277|.	T|.	0.21103|.	0.0508|.	.|.	.|.	.|.	0.31788|0.31788	N|N	0.630072|0.630072	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15723|.	-1.0427|.	7|.	0.38643|.	T|.	0.18|.	.|.	2.6002|2.6002	0.04864|0.04864	0.1723:0.4773:0.1725:0.1779|0.1723:0.4773:0.1725:0.1779	.|.	.|.	.|.	.|.	L|X	114|153	ENSP00000401865:P114L|.	ENSP00000401865:P114L|.	P|R	+|+	2|1	0|2	SNED1|SNED1	241636499|241636499	0.000000|0.000000	0.05858|0.05858	0.333000|0.333000	0.25482|0.25482	0.918000|0.918000	0.54935|0.54935	-4.202000|-4.202000	0.00275|0.00275	-1.805000|-1.805000	0.01239|0.01239	-1.012000|-1.012000	0.02466|0.02466	CCG|CGA		0.662	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		4	9	0	0	0	0	4	9				
COMMD7	149951	broad.mit.edu	37	20	31291246	31291246	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:31291246G>C	ENST00000278980.6	-	9	1146	c.541C>G	c.(541-543)Cag>Gag	p.Q181E	COMMD7_ENST00000446419.2_Missense_Mutation_p.Q180E	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	181	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						CTGTAGAACTGAGGCAAGGTT	0.478																																						uc002wya.3		NA																	0				breast(1)	1						c.(541-543)CAG>GAG		COMM domain containing 7 isoform 1							84.0	87.0	86.0					20																	31291246		1911	4120	6031	SO:0001583	missense	149951				negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|tumor necrosis factor-mediated signaling pathway		NF-kappaB binding	g.chr20:31291246G>C	AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.541C>G	20.37:g.31291246G>C	ENSP00000278980:p.Gln181Glu					COMMD7_uc010ged.2_Missense_Mutation_p.Q180E|COMMD7_uc002wyb.2_3'UTR	p.Q181E	NM_053041	NP_444269	Q86VX2	COMD7_HUMAN			9	1158	-			181			COMM.		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	ENST00000278980.6	37	c.541C>G	CCDS42864.1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.856882	0.51376	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.08193	3.12;3.12	5.38	4.43	0.53597	COMM domain (1);	0.287422	0.35646	N	0.003072	T	0.09774	0.0240	L	0.60067	1.865	0.48901	D	0.999723	B;B	0.30542	0.103;0.284	B;B	0.28139	0.051;0.086	T	0.12218	-1.0556	10	0.16420	T	0.52	.	13.3866	0.60799	0.0:0.1575:0.8425:0.0	.	180;181	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	E	181;180	ENSP00000278980:Q181E;ENSP00000395339:Q180E	ENSP00000278980:Q181E	Q	-	1	0	COMMD7	30754907	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.470000	0.80973	1.489000	0.48450	0.655000	0.94253	CAG		0.478	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078648.2	NM_053041		7	46	0	0	0	0	7	46				
BPIFA3	128861	broad.mit.edu	37	20	31813054	31813054	+	Splice_Site	SNP	G	G	T	rs370889922		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:31813054G>T	ENST00000375454.3	+	4	746		c.e4+1		BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Splice_Site	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3							extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCCTCACTGAGTAAGACCCCA	0.577																																						uc002wyr.2		NA																	0				ovary(1)|skin(1)	2						c.e4+1		short long palate, lung and nasal epithelium							116.0	116.0	116.0					20																	31813054		2203	4300	6503	SO:0001630	splice_region_variant	128861					extracellular region	lipid binding	g.chr20:31813054G>T		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.536+1G>T	20.37:g.31813054G>T						C20orf71_uc002wys.2_Splice_Site_p.E143_splice	p.E179_splice	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			4	744	+								Q5JWG8|Q6NZ38	Splice_Site	SNP	ENST00000375454.3	37	c.536_splice	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903919	0.33628	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0051	0.47629	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFA3	31276715	1.000000	0.71417	0.956000	0.39512	0.038000	0.13279	3.733000	0.55029	2.276000	0.75962	0.462000	0.41574	.		0.577	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466	Intron	9	84	1	0	0.00448238	0.00462043	9	84				
GSS	2937	broad.mit.edu	37	20	33529522	33529522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:33529522G>A	ENST00000216951.2	-	6	700	c.602C>T	c.(601-603)tCa>tTa	p.S201L	GSS_ENST00000541098.1_Missense_Mutation_p.S73L|GSS_ENST00000451957.2_Intron	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	201					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)	TTACTTGGGTGAGCCGTAGAG	0.483																																						uc002xbg.2		NA																	0				ovary(3)	3	GRCh37	CI025314	GSS	I		c.(601-603)TCA>TTA		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						90.0	86.0	87.0					20																	33529522		2203	4300	6503	SO:0001583	missense	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.chr20:33529522G>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.602C>T	20.37:g.33529522G>A	ENSP00000216951:p.Ser201Leu					GSS_uc010zun.1_Missense_Mutation_p.S73L|GSS_uc010zuo.1_Intron|GSS_uc010zup.1_Missense_Mutation_p.S132L|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Intron	p.S201L	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		6	682	-			201					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.602C>T	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087629	0.76642	.	.	ENSG00000100983	ENST00000216951;ENST00000541098	D;D	0.91577	-2.87;-2.87	5.78	2.43	0.29744	Glutathione synthase, substrate-binding, eukaryotic (1);	0.401465	0.28493	N	0.015150	D	0.92766	0.7700	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.90878	0.4751	10	0.36615	T	0.2	0.1027	12.0937	0.53742	0.0:0.2444:0.6289:0.1267	.	201	P48637	GSHB_HUMAN	L	201;73	ENSP00000216951:S201L;ENSP00000439744:S73L	ENSP00000216951:S201L	S	-	2	0	GSS	32993183	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	5.055000	0.64282	0.822000	0.34565	0.655000	0.94253	TCA		0.483	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			11	63	0	0	0	0	11	63				
SEMG1	6406	broad.mit.edu	37	20	43836743	43836743	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:43836743C>G	ENST00000372781.3	+	2	862	c.805C>G	c.(805-807)Cag>Gag	p.Q269E	SEMG1_ENST00000244069.6_Missense_Mutation_p.Q269E	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	269	2 X 60 AA tandem repeats, type 1.|Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAATCAACACCAGACAAAAAA	0.398																																						uc002xni.2		NA																	0				skin(2)	2						c.(805-807)CAG>GAG		semenogelin I preproprotein							79.0	76.0	77.0					20																	43836743		2203	4300	6503	SO:0001583	missense	6406				insemination|sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836743C>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.805C>G	20.37:g.43836743C>G	ENSP00000361867:p.Gln269Glu					SEMG1_uc002xnj.2_Missense_Mutation_p.Q269E|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.Q269E	p.Q269E	NM_003007	NP_002998	P04279	SEMG1_HUMAN			2	862	+		Myeloproliferative disorder(115;0.0122)	269			42 AA repeat 2.		Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37	c.805C>G	CCDS13345.1	.	.	.	.	.	.	.	.	.	.	C	7.993	0.753806	0.15778	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.11277	2.79;2.79	2.03	-1.93	0.07594	.	.	.	.	.	T	0.19846	0.0477	L	0.53249	1.67	0.09310	N	1	D;P;D	0.60575	0.982;0.843;0.988	D;P;D	0.76071	0.968;0.848;0.987	T	0.14200	-1.0481	9	0.34782	T	0.22	.	4.3909	0.11339	0.4414:0.341:0.2176:0.0	.	269;269;269	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	E	269	ENSP00000244069:Q269E;ENSP00000361867:Q269E	ENSP00000244069:Q269E	Q	+	1	0	SEMG1	43270157	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.030000	0.13688	-0.424000	0.07382	-0.321000	0.08615	CAG		0.398	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007		9	63	0	0	0	0	9	63				
BMP7	655	broad.mit.edu	37	20	55777625	55777625	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr20:55777625G>A	ENST00000395863.3	-	3	1171	c.666C>T	c.(664-666)ggC>ggT	p.G222G	BMP7_ENST00000395864.3_Silent_p.G222G|BMP7_ENST00000450594.2_Silent_p.G222G|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	222					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACACCAGCCAGCCCTCCTCCG	0.627																																						uc010gip.1		NA																	0				skin(1)	1						c.(664-666)GGC>GGT		bone morphogenetic protein 7 precursor							52.0	47.0	49.0					20																	55777625		2203	4300	6503	SO:0001819	synonymous_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55777625G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.666C>T	20.37:g.55777625G>A						BMP7_uc010giq.1_Silent_p.G222G|BMP7_uc002xyc.2_Silent_p.G222G	p.G222G	NM_001719	NP_001710	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		3	1195	-	all_lung(29;0.0133)|Melanoma(10;0.242)		222					Q9H512|Q9NTQ7	Silent	SNP	ENST00000395863.3	37	c.666C>T	CCDS13455.1																																																																																				0.627	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			9	35	0	0	0	0	9	35				
DSCAM	1826	broad.mit.edu	37	21	41416162	41416162	+	Silent	SNP	C	C	T	rs375835535	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:41416162C>T	ENST00000400454.1	-	31	5703	c.5226G>A	c.(5224-5226)gcG>gcA	p.A1742A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1742					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A1742A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGCGGTTTCTCGCTGTGGGCC	0.602													c|||	2	0.000399361	0.0015	0.0	5008	,	,		16409	0.0		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5224-5226)GCG>GCA		Down syndrome cell adhesion molecule isoform		T		7,4231		0,7,2112	80.0	89.0	86.0		5226	-11.1	0.0	21		86	0,8478		0,0,4239	no	coding-synonymous	DSCAM	NM_001389.3		0,7,6351	TT,TC,CC		0.0,0.1652,0.055		1742/2013	41416162	7,12709	2119	4239	6358	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41416162C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5226G>A	21.37:g.41416162C>T						DSCAM_uc002yyr.1_RNA	p.A1742A	NM_001389	NP_001380	O60469	DSCAM_HUMAN			31	5678	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1742			Cytoplasmic (Potential).		O60468	Silent	SNP	ENST00000400454.1	37	c.5226G>A	CCDS42929.1																																																																																				0.602	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		8	24	0	0	0	0	8	24				
TMPRSS2	7113	broad.mit.edu	37	21	42861456	42861456	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:42861456G>A	ENST00000332149.5	-	4	437	c.303C>T	c.(301-303)gcC>gcT	p.A101A	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000398585.3_Silent_p.A138A|TMPRSS2_ENST00000458356.1_Silent_p.A101A	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	101					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTAGGCCAGCGGCCAGCGCAG	0.592			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	uc002yzj.2		NA		Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	ERG|ETV1|ETV4|ETV5		prostate 	TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	0				prostate(2523)|central_nervous_system(1)	2524						c.(301-303)GCC>GCT		transmembrane protease, serine 2 isoform 2							82.0	72.0	75.0					21																	42861456		2203	4300	6503	SO:0001819	synonymous_variant	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42861456G>A	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.303C>T	21.37:g.42861456G>A						TMPRSS2_uc010gor.2_Silent_p.A138A|TMPRSS2_uc010gos.1_Silent_p.A101A	p.A101A	NM_005656	NP_005647	O15393	TMPS2_HUMAN			4	437	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	101			Helical; Signal-anchor for type II membrane protein; (Potential).		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.303C>T	CCDS33564.1																																																																																				0.592	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			14	30	0	0	0	0	14	30				
ADARB1	104	broad.mit.edu	37	21	46596022	46596022	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr21:46596022G>A	ENST00000360697.3	+	2	421	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ADARB1_ENST00000389863.4_Missense_Mutation_p.E136K|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000348831.4_Missense_Mutation_p.E136K|ADARB1_ENST00000539173.1_Missense_Mutation_p.E136K			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	136	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CCATGCTGCTGAGAAGGCCTT	0.542																																						uc002zgy.2		NA																	0				skin(1)	1						c.(406-408)GAG>AAG		RNA-specific adenosine deaminase B1 isoform 2							85.0	79.0	81.0					21																	46596022		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46596022G>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.406G>A	21.37:g.46596022G>A	ENSP00000353920:p.Glu136Lys					ADARB1_uc002zgr.2_Missense_Mutation_p.E136K|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.E136K|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.E136K|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.E185K	p.E136K	NM_015833	NP_056648	P78563	RED1_HUMAN		Colorectal(79;0.115)	4	841	+			136			DRBM 1.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.406G>A	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369844	0.82573	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000449478;ENST00000360697	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.24	5.24	0.73138	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	L	0.41415	1.275	0.80722	D	1	P;D;P;P;P	0.58268	0.94;0.982;0.547;0.673;0.954	P;D;P;B;P	0.65323	0.707;0.934;0.496;0.441;0.796	D	0.83601	0.0128	10	0.56958	D	0.05	-57.9882	16.6953	0.85334	0.0:0.0:1.0:0.0	.	163;136;136;164;136	P78563-4;P78563;Q4AE77;G5E9B4;P78563-3	.;RED1_HUMAN;.;.;.	K	136	ENSP00000441897:E136K;ENSP00000374513:E136K;ENSP00000015877:E136K;ENSP00000387480:E136K;ENSP00000353920:E136K	ENSP00000015877:E136K	E	+	1	0	ADARB1	45420450	1.000000	0.71417	0.997000	0.53966	0.479000	0.33129	9.400000	0.97290	2.632000	0.89209	0.561000	0.74099	GAG		0.542	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		9	43	0	0	0	0	9	43				
PRAME	23532	broad.mit.edu	37	22	22892745	22892745	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:22892745A>C	ENST00000398741.1	-	5	662	c.356T>G	c.(355-357)cTt>cGt	p.L119R	PRAME_ENST00000543184.1_Missense_Mutation_p.L119R|PRAME_ENST00000424204.2_Missense_Mutation_p.L103R|PRAME_ENST00000405655.3_Missense_Mutation_p.L119R|PRAME_ENST00000402697.1_Missense_Mutation_p.L119R|PRAME_ENST00000398743.2_Missense_Mutation_p.L119R|PRAME_ENST00000539862.1_Missense_Mutation_p.L103R|PRAME_ENST00000485532.1_5'UTR	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	119					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGCACTTGAAGTTTCCACCT	0.438																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.2		NA																	0				central_nervous_system(2)	2						c.(355-357)CTT>CGT		preferentially expressed antigen in melanoma							70.0	71.0	71.0					22																	22892745		2202	4300	6502	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892745A>C	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.356T>G	22.37:g.22892745A>C	ENSP00000381726:p.Leu119Arg					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.L103R|PRAME_uc010gtr.2_Missense_Mutation_p.L119R|PRAME_uc002zwg.2_Missense_Mutation_p.L119R|PRAME_uc002zwh.2_Missense_Mutation_p.L119R|PRAME_uc002zwi.2_Missense_Mutation_p.L119R|PRAME_uc002zwj.2_Missense_Mutation_p.L119R|PRAME_uc002zwk.2_Missense_Mutation_p.L119R	p.L119R	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	512	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	119					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.356T>G	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.370355	0.24771	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106;ENST00000420709	T;T;T;T;T;T;T;T;T	0.04758	4.29;4.29;4.29;4.29;4.29;4.29;4.29;3.56;3.56	3.36	2.31	0.28768	.	0.000000	0.52532	D	0.000062	T	0.20129	0.0484	M	0.89287	3.02	0.19775	N	0.999953	D	0.89917	1.0	D	0.91635	0.999	T	0.03433	-1.1037	10	0.87932	D	0	.	5.531	0.16985	0.8713:0.0:0.1287:0.0	.	119	P78395	PRAME_HUMAN	R	119;119;119;119;103;119;103;119;119	ENSP00000381728:L119R;ENSP00000445675:L119R;ENSP00000381726:L119R;ENSP00000384343:L119R;ENSP00000445097:L103R;ENSP00000385198:L119R;ENSP00000407342:L103R;ENSP00000407320:L119R;ENSP00000412318:L119R	ENSP00000381726:L119R	L	-	2	0	PRAME	21222745	0.958000	0.32768	0.301000	0.25044	0.016000	0.09150	2.845000	0.48254	0.658000	0.30925	0.533000	0.62120	CTT		0.438	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		8	60	0	0	0	0	8	60				
HSCB	150274	broad.mit.edu	37	22	29139936	29139936	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:29139936C>T	ENST00000216027.3	+	2	368	c.303C>T	c.(301-303)gtC>gtT	p.V101V	CHEK2_ENST00000382578.1_5'Flank|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000544772.1_5'Flank|HSCB_ENST00000495977.1_3'UTR|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000405598.1_5'Flank|CHEK2_ENST00000328354.6_5'Flank|HSCB_ENST00000398941.2_Silent_p.V101V|CHEK2_ENST00000382580.2_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	101	J.				iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						AGCGTCTTGTCCACCCAGATT	0.483																																						uc003aea.2		NA																	0				kidney(1)	1						c.(301-303)GTC>GTT		J-type co-chaperone HSC20 precursor							135.0	121.0	125.0					22																	29139936		2203	4300	6503	SO:0001819	synonymous_variant	150274				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding	g.chr22:29139936C>T	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.303C>T	22.37:g.29139936C>T						CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adw.1_5'Flank|CHEK2_uc003adx.1_5'Flank|CHEK2_uc003ady.1_5'Flank|CHEK2_uc003adz.1_5'Flank	p.V101V	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN			2	344	+			101			J.		Q9BWS7	Silent	SNP	ENST00000216027.3	37	c.303C>T	CCDS13845.1																																																																																				0.483	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321263.1	NM_172002		14	91	0	0	0	0	14	91				
RFPL2	10739	broad.mit.edu	37	22	32586995	32586995	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:32586995G>A	ENST00000400237.1	-	5	1836	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	RFPL2_ENST00000248983.4_Missense_Mutation_p.R211C|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.R240C|RFPL2_ENST00000400236.3_Missense_Mutation_p.R211C			O75678	RFPL2_HUMAN	ret finger protein-like 2	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGTAACTTGCGGTCTACGAAG	0.517																																						uc003amg.3		NA																	0				skin(1)	1						c.(901-903)CGC>TGC		ret finger protein-like 2 isoform 2							41.0	61.0	54.0					22																	32586995		2202	4294	6496	SO:0001583	missense	10739						zinc ion binding	g.chr22:32586995G>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.901C>T	22.37:g.32586995G>A	ENSP00000383096:p.Arg301Cys					RFPL2_uc003ame.3_Missense_Mutation_p.R240C|RFPL2_uc003amf.3_Missense_Mutation_p.R211C|RFPL2_uc003amh.3_Missense_Mutation_p.R211C	p.R301C	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	1837	-			301			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000400237.1	37	c.901C>T	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	G	8.223	0.802834	0.16397	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	0.351	-0.702	0.11265	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.67002	0.2847	L	0.37850	1.14	0.09310	N	1	D;P	0.57899	0.981;0.829	P;P	0.59595	0.86;0.594	T	0.62492	-0.6843	9	0.66056	D	0.02	.	8.0539	0.30593	0.0:0.2564:0.7436:0.0	.	301;240	O75678;O75678-3	RFPL2_HUMAN;.	C	240;211;211;301	ENSP00000248980:R240C;ENSP00000248983:R211C;ENSP00000383095:R211C;ENSP00000383096:R301C	ENSP00000248980:R240C	R	-	1	0	RFPL2	30916995	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.154000	0.03166	-2.013000	0.00949	-2.039000	0.00418	CGC		0.517	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		12	38	0	0	0	0	12	38				
TAB1	10454	broad.mit.edu	37	22	39826084	39826084	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:39826084G>A	ENST00000216160.6	+	11	1434	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	458					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTCCAGCTCTGACGGAGGCCT	0.627																																						uc003axt.2		NA																	0				breast(1)	1						c.(1372-1374)GAC>AAC		mitogen-activated protein kinase kinase kinase 7							80.0	74.0	76.0					22																	39826084		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39826084G>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1372G>A	22.37:g.39826084G>A	ENSP00000216160:p.Asp458Asn					TAB1_uc003axr.2_Missense_Mutation_p.D534N|TAB1_uc011aok.1_Missense_Mutation_p.D292N|TAB1_uc003axu.1_Intron	p.D458N	NM_006116	NP_006107	Q15750	TAB1_HUMAN			11	1421	+			458					Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.1372G>A	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989228	0.93106	.	.	ENSG00000100324	ENST00000216160	T	0.52754	0.65	5.22	4.21	0.49690	.	0.367891	0.28901	N	0.013768	T	0.59445	0.2194	L	0.44542	1.39	0.80722	D	1	D;B	0.63880	0.993;0.004	D;B	0.72338	0.977;0.008	T	0.58978	-0.7540	10	0.45353	T	0.12	-18.1464	13.9242	0.63952	0.0736:0.0:0.9264:0.0	.	458;602	Q15750;Q59FT7	TAB1_HUMAN;.	N	458	ENSP00000216160:D458N	ENSP00000216160:D458N	D	+	1	0	TAB1	38156030	1.000000	0.71417	0.846000	0.33378	0.922000	0.55478	8.979000	0.93455	1.206000	0.43276	0.650000	0.86243	GAC		0.627	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		7	86	0	0	0	0	7	86				
EFCAB6	64800	broad.mit.edu	37	22	44079707	44079707	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:44079707C>A	ENST00000262726.7	-	12	1424	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.E239*|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGATGTTTTCCTTGTGAGAT	0.343																																						uc003bdy.1		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1171-1173)GAA>TAA		CAP-binding protein complex interacting protein							262.0	240.0	247.0					22																	44079707		2203	4300	6503	SO:0001587	stop_gained	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44079707C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1171G>T	22.37:g.44079707C>A	ENSP00000262726:p.Glu391*					EFCAB6_uc003bdz.1_Nonsense_Mutation_p.E239*|EFCAB6_uc010gzi.1_Nonsense_Mutation_p.E239*|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.1_Intron|EFCAB6_uc003bea.1_Nonsense_Mutation_p.E388*	p.E391*	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			12	1386	-		Ovarian(80;0.0247)|all_neural(38;0.025)	391					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	ENST00000262726.7	37	c.1171G>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773189	0.90108	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	4.74	2.65	0.31530	.	0.226658	0.35013	N	0.003509	.	.	.	.	.	.	0.44289	D	0.997158	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-19.6313	7.3896	0.26903	0.0:0.8022:0.0:0.1978	.	.	.	.	X	239;391	.	ENSP00000262726:E391X	E	-	1	0	EFCAB6	42411040	0.183000	0.23186	0.249000	0.24280	0.041000	0.13682	0.958000	0.29227	0.719000	0.32188	-0.218000	0.12543	GAA		0.343	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		21	91	1	0	1.28e-07	1.38e-07	21	91				
TUBGCP6	85378	broad.mit.edu	37	22	50660299	50660299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:50660299G>A	ENST00000248846.5	-	16	2593	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.T830M			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	830					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCCGGAGACGTGACCTGAAA	0.622																																						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2488-2490)ACG>ATG		tubulin, gamma complex associated protein 6							35.0	40.0	39.0					22																	50660299		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50660299G>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2489C>T	22.37:g.50660299G>A	ENSP00000248846:p.Thr830Met					TUBGCP6_uc003bka.1_Translation_Start_Site|TUBGCP6_uc010har.1_Missense_Mutation_p.T822M|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.T26M	p.T830M	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	3001	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	830					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.2489C>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738218	0.30774	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.13420	3.0;2.59	4.28	-5.04	0.02964	.	19.253900	0.00575	N	0.000311	T	0.12263	0.0298	N	0.22421	0.69	0.09310	N	1	P;P	0.50156	0.621;0.932	B;P	0.47915	0.125;0.561	T	0.31998	-0.9923	10	0.62326	D	0.03	.	6.1081	0.20086	0.5385:0.142:0.3194:0.0	.	822;830	B2RWN4;Q96RT7	.;GCP6_HUMAN	M	830	ENSP00000248846:T830M;ENSP00000397387:T830M	ENSP00000248846:T830M	T	-	2	0	TUBGCP6	49002426	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.037000	0.13840	-0.578000	0.05959	-0.291000	0.09656	ACG		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	32	0	0	0	0	6	32				
SBF1	6305	broad.mit.edu	37	22	50898068	50898068	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr22:50898068C>G	ENST00000390679.3	-	27	3703	c.3519G>C	c.(3517-3519)caG>caC	p.Q1173H	SBF1_ENST00000348911.6_Missense_Mutation_p.Q1174H|SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Missense_Mutation_p.Q1173H			O95248	MTMR5_HUMAN	SET binding factor 1	1173	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGGACACTCTGGGGCACGA	0.701																																						uc003blh.2		NA																	0					0						c.(3517-3519)CAG>CAC		SET binding factor 1							15.0	17.0	17.0					22																	50898068		2163	4241	6404	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50898068C>G	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3519G>C	22.37:g.50898068C>G	ENSP00000375097:p.Gln1173His					SBF1_uc011arx.1_Missense_Mutation_p.Q837H	p.Q1173H	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	27	3714	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1173			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3519G>C		.	.	.	.	.	.	.	.	.	.	C	20.3	3.961613	0.74016	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.93019	-3.15;-3.15;-3.15	4.68	4.68	0.58851	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.059954	0.64402	D	0.000002	D	0.89660	0.6779	L	0.37466	1.105	0.54753	D	0.999987	B;B	0.14805	0.011;0.01	B;B	0.26693	0.072;0.009	D	0.86079	0.1543	10	0.40728	T	0.16	.	13.1595	0.59537	0.0:0.8392:0.1607:0.0	.	1173;1173	O95248;O95248-4	MTMR5_HUMAN;.	H	1173;1174;1183;1173	ENSP00000370196:Q1173H;ENSP00000252027:Q1174H;ENSP00000375097:Q1173H	ENSP00000336522:Q1183H	Q	-	3	2	SBF1	49244934	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	4.512000	0.60469	2.429000	0.82318	0.561000	0.74099	CAG		0.701	SBF1-201	KNOWN	basic	protein_coding	protein_coding				3	33	0	0	0	0	3	33				
CAV3	859	broad.mit.edu	37	3	8787388	8787388	+	Silent	SNP	C	C	T	rs116840802		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:8787388C>T	ENST00000343849.2	+	2	368	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Silent_p.F97F|SSUH2_ENST00000478513.1_5'Flank	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	97	Required for interaction with DAG1.		F -> C (in LQT9; increase in late sodium current). {ECO:0000269|PubMed:17060380}.|Missing (in HYPCK). {ECO:0000269|PubMed:14663034}.		actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCATCTCCTTCTGCCACATCT	0.582																																						uc003bra.2		NA																	0				lung(1)|breast(1)	2						c.(289-291)TTC>TTT		caveolin 3							109.0	86.0	94.0					3																	8787388		2203	4300	6503	SO:0001819	synonymous_variant	859				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	g.chr3:8787388C>T	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"""M-caveolin"""	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.291C>T	3.37:g.8787388C>T						C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Silent_p.F97F	p.F97F	NM_001234	NP_001225	P56539	CAV3_HUMAN			2	358	+			97		F -> C (in LQT9; increase in late sodium current).|Missing (in HYPCK).	Required for interaction with DAG1.		A8K777|Q3T1A4	Silent	SNP	ENST00000343849.2	37	c.291C>T	CCDS2569.1																																																																																				0.582	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		4	15	0	0	0	0	4	15				
CACNA1D	776	broad.mit.edu	37	3	53700551	53700551	+	Missense_Mutation	SNP	G	G	A	rs148674323		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:53700551G>A	ENST00000350061.5	+	7	1616	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V369M|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V369M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	369					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGACAGATGTGCTCTACTG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		23170	0.0		0.001	False		,,,				2504	0.0					uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(1105-1107)GTG>ATG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)	G	MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	147.0	149.0	149.0		1105,1105,1105	5.1	1.0	3	dbSNP_134	149	1,8599		0,1,4299	no	missense,missense,missense	CACNA1D	NM_000720.2,NM_001128839.1,NM_001128840.1	21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	369/2182,369/2138,369/2162	53700551	1,13005	2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53700551G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1105G>A	3.37:g.53700551G>A	ENSP00000288133:p.Val369Met					CACNA1D_uc003dgu.3_Missense_Mutation_p.V369M|CACNA1D_uc003dgy.3_Missense_Mutation_p.V369M|CACNA1D_uc003dgw.3_Missense_Mutation_p.V16M	p.V369M	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	7	1268	+			369			Extracellular (Potential).|I.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1105G>A	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.00|18.00	3.526238|3.526238	0.64860|0.64860	0.0|0.0	1.16E-4|1.16E-4	ENSG00000157388|ENSG00000157388	ENST00000481085|ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.|D;D;D;D	.|0.97710	.|-4.5;-4.5;-4.5;-4.5	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Ion transport (1);	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.98909|0.98909	0.9630|0.9630	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.995;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.997;0.947;1.0	D|D	0.99655|0.99655	1.0992|1.0992	5|10	.|0.72032	.|D	.|0.01	.|.	18.6007|18.6007	0.91247|0.91247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|369;42;369;369	.|B0FYA3;Q59GD8;Q01668;Q01668-2	.|.;.;CAC1D_HUMAN;.	I|M	54|369;369;369;42	.|ENSP00000288133:V369M;ENSP00000288139:V369M;ENSP00000409174:V369M;ENSP00000418014:V42M	.|ENSP00000288139:V369M	M|V	+|+	3|1	0|0	CACNA1D|CACNA1D	53675591|53675591	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.366000|0.366000	0.29705|0.29705	9.601000|9.601000	0.98297|0.98297	2.629000|2.629000	0.89072|0.89072	0.491000|0.491000	0.48974|0.48974	ATG|GTG		0.512	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		41	64	0	0	0	0	41	64				
IFT57	55081	broad.mit.edu	37	3	107938325	107938325	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:107938325C>T	ENST00000264538.3	-	2	554	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	103					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TGAGGCTGCTCAAAGGGACGT	0.418																																						uc003dwx.3		NA																	0				ovary(1)|skin(1)|pancreas(1)	3						c.(307-309)GAG>AAG		estrogen-related receptor beta like 1							132.0	123.0	126.0					3																	107938325		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107938325C>T	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.307G>A	3.37:g.107938325C>T	ENSP00000264538:p.Glu103Lys						p.E103K	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		2	555	-			103					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.307G>A	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907364	0.92107	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	5.68	5.68	0.88126	.	0.335346	0.35040	N	0.003484	T	0.71074	0.3297	M	0.70842	2.15	0.53005	D	0.99996	P	0.48998	0.918	P	0.49953	0.627	T	0.65965	-0.6040	9	0.22706	T	0.39	.	20.1595	0.98130	0.0:1.0:0.0:0.0	.	103	Q9NWB7	IFT57_HUMAN	K	103;134	.	ENSP00000264538:E103K	E	-	1	0	IFT57	109421015	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.808000	0.47963	2.847000	0.97988	0.591000	0.81541	GAG		0.418	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		6	82	0	0	0	0	6	82				
SLC35A5	55032	broad.mit.edu	37	3	112300018	112300018	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:112300018G>C	ENST00000492406.1	+	6	1337	c.1054G>C	c.(1054-1056)Gac>Cac	p.D352H	SLC35A5_ENST00000460713.1_3'UTR	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	352					nucleotide-sugar transport (GO:0015780)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)|sugar:proton symporter activity (GO:0005351)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTGGTCTTTGACTTCAGGCC	0.453																																						uc003dze.2		NA																	0				ovary(1)	1						c.(1054-1056)GAC>CAC		solute carrier family 35, member A5							70.0	68.0	69.0					3																	112300018		2203	4299	6502	SO:0001583	missense	55032					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr3:112300018G>C	AK000737	CCDS2967.1	3q13.13	2013-05-22			ENSG00000138459	ENSG00000138459		"""Solute carriers"""	20792	protein-coding gene	gene with protein product							Standard	NM_017945		Approved	FLJ20730	uc003dze.4	Q9BS91	OTTHUMG00000159263	ENST00000492406.1:c.1054G>C	3.37:g.112300018G>C	ENSP00000417654:p.Asp352His						p.D352H	NM_017945	NP_060415	Q9BS91	S35A5_HUMAN			6	1299	+			352					D3DN66|Q69YY6|Q6ZMD6|Q9NWM9	Missense_Mutation	SNP	ENST00000492406.1	37	c.1054G>C	CCDS2967.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729537	0.48833	.	.	ENSG00000138459	ENST00000492406	T	0.55760	0.5	5.77	5.77	0.91146	.	0.082804	0.85682	D	0.000000	T	0.51160	0.1658	L	0.58669	1.825	0.53688	D	0.999977	P	0.41624	0.757	B	0.41036	0.346	T	0.48811	-0.9002	9	.	.	.	-19.8158	13.5536	0.61747	0.0712:0.0:0.9288:0.0	.	352	Q9BS91	S35A5_HUMAN	H	352	ENSP00000417654:D352H	.	D	+	1	0	SLC35A5	113782708	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.793000	0.55484	2.890000	0.99128	0.585000	0.79938	GAC		0.453	SLC35A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354184.1	NM_017945		12	86	0	0	0	0	12	86				
RABL3	285282	broad.mit.edu	37	3	120424914	120424914	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:120424914A>C	ENST00000273375.3	-	4	345	c.316T>G	c.(316-318)Ttg>Gtg	p.L106V	RABL3_ENST00000483733.1_Missense_Mutation_p.L106V|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	106	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CAACGACGCAAGTTTTGGGAG	0.383																																						uc003edx.2		NA																	0					0						c.(316-318)TTG>GTG		RAB, member of RAS oncogene family-like 3							110.0	111.0	111.0					3																	120424914		2203	4300	6503	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120424914A>C	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.316T>G	3.37:g.120424914A>C	ENSP00000273375:p.Leu106Val						p.L106V	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	4	346	-			106			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.316T>G	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130028	0.77549	.	.	ENSG00000144840	ENST00000273375;ENST00000483733	T;T	0.73575	-0.76;-0.76	5.61	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	L	0.53729	1.69	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.75542	-0.3281	10	0.24483	T	0.36	-5.8574	7.6817	0.28518	0.8428:0.0:0.1572:0.0	.	106	Q5HYI8	RABL3_HUMAN	V	106	ENSP00000273375:L106V;ENSP00000419986:L106V	ENSP00000273375:L106V	L	-	1	2	RABL3	121907604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.773000	0.55333	2.138000	0.66242	0.533000	0.62120	TTG		0.383	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		10	39	0	0	0	0	10	39				
DTX3L	151636	broad.mit.edu	37	3	122287708	122287708	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:122287708G>C	ENST00000296161.4	+	3	961	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	258					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CAACTCAATAGAGAAAAGATT	0.373																																						uc003efk.2		NA																	0				ovary(2)|lung(1)|breast(1)	4						c.(772-774)GAG>CAG		deltex 3-like							35.0	39.0	37.0					3																	122287708		2203	4300	6503	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122287708G>C		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.772G>C	3.37:g.122287708G>C	ENSP00000296161:p.Glu258Gln					DTX3L_uc010hrj.2_Intron	p.E258Q	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	3	861	+			258					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.772G>C	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	G	6.038	0.375395	0.11409	.	.	ENSG00000163840	ENST00000296161	T	0.34667	1.35	5.52	1.55	0.23275	.	0.249218	0.28290	N	0.015893	T	0.18299	0.0439	N	0.14661	0.345	0.80722	D	1	B	0.16166	0.016	B	0.19391	0.025	T	0.06338	-1.0832	10	0.26408	T	0.33	-6.1423	6.6484	0.22949	0.1751:0.4579:0.367:0.0	.	258	Q8TDB6	DTX3L_HUMAN	Q	258	ENSP00000296161:E258Q	ENSP00000296161:E258Q	E	+	1	0	DTX3L	123770398	0.307000	0.24500	0.966000	0.40874	0.236000	0.25371	0.142000	0.16096	0.091000	0.17302	-0.244000	0.11960	GAG		0.373	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		3	33	0	0	0	0	3	33				
CLSTN2	64084	broad.mit.edu	37	3	140167508	140167508	+	Missense_Mutation	SNP	G	G	A	rs148820533		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:140167508G>A	ENST00000458420.3	+	6	1125	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	RP11-68L1.2_ENST00000509191.1_RNA|RP11-68L1.2_ENST00000502712.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	312					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTTGTGACCGGGAGACCTAC	0.443										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NA																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(934-936)CGG>CAG		calsyntenin 2 precursor		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	128.0	127.0		935	5.2	1.0	3	dbSNP_134	127	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CLSTN2	NM_022131.2	43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	312/956	140167508	3,13003	2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140167508G>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.935G>A	3.37:g.140167508G>A	ENSP00000402460:p.Arg312Gln	HNSCC(16;0.037)				CLSTN2_uc003etm.2_Missense_Mutation_p.R312Q	p.R312Q	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			6	1125	+			312			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.935G>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546223	0.96488	2.27E-4	2.33E-4	ENSG00000158258	ENST00000458420	T	0.60299	0.2	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.80132	0.4567	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	D	0.85092	0.0952	10	0.87932	D	0	-6.9109	16.2424	0.82423	0.0:0.0:1.0:0.0	.	312	Q9H4D0	CSTN2_HUMAN	Q	312	ENSP00000402460:R312Q	ENSP00000402460:R312Q	R	+	2	0	CLSTN2	141650198	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	9.813000	0.99286	2.425000	0.82216	0.561000	0.74099	CGG		0.443	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		22	236	0	0	0	0	22	236				
ERICH6	131831	broad.mit.edu	37	3	150377925	150377925	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:150377925C>T	ENST00000295910.6	-	14	1798	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	FAM194A_ENST00000491361.1_Silent_p.E436E	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGATTGGAATCTCCTCAGGGT	0.463																																						uc003eyg.2		NA																	0				skin(2)|ovary(1)	3						c.(1744-1746)GAG>GAA		hypothetical protein LOC131831							84.0	85.0	85.0					3																	150377925		2203	4300	6503	SO:0001819	synonymous_variant	131831							g.chr3:150377925C>T																												ENST00000295910.6:c.1746G>A	3.37:g.150377925C>T						FAM194A_uc003eyh.2_Silent_p.E436E	p.E582E	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN			14	1803	-			582						Silent	SNP	ENST00000295910.6	37	c.1746G>A	CCDS3151.2																																																																																				0.463	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			10	129	0	0	0	0	10	129				
MED12L	116931	broad.mit.edu	37	3	150908657	150908657	+	Missense_Mutation	SNP	G	G	A	rs368991764		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:150908657G>A	ENST00000474524.1	+	13	1945	c.1907G>A	c.(1906-1908)cGg>cAg	p.R636Q	MED12L_ENST00000309237.4_Missense_Mutation_p.R636Q|MED12L_ENST00000422248.2_Missense_Mutation_p.R636Q|MED12L_ENST00000273432.4_Missense_Mutation_p.R496Q|RNA5SP145_ENST00000363124.1_RNA	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	636						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTCGGCCGCGGTCACCAGTA	0.502																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1906-1908)CGG>CAG		mediator of RNA polymerase II transcription,		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	91.0	96.0		1907	4.5	0.9	3		96	0,8600		0,0,4300	no	missense	MED12L	NM_053002.4	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	636/2146	150908657	1,13005	2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150908657G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1907G>A	3.37:g.150908657G>A	ENSP00000417235:p.Arg636Gln					MED12L_uc011bnz.1_Missense_Mutation_p.R496Q|MED12L_uc003eyn.2_Missense_Mutation_p.R636Q|MED12L_uc003eyo.2_Missense_Mutation_p.R636Q	p.R636Q	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		13	1945	+			636					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1907G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058925	0.55325	2.27E-4	0.0	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.35	4.48	0.54585	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.64997	1.995	0.45676	D	0.998595	D;B;P;D	0.76494	0.996;0.202;0.772;0.999	P;B;B;D	0.71870	0.77;0.027;0.089;0.975	T	0.41680	-0.9495	10	0.25751	T	0.34	-22.0832	13.8661	0.63590	0.0745:0.0:0.9255:0.0	.	496;636;636;636	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	Q	636;636;636;496	ENSP00000403308:R636Q;ENSP00000310760:R636Q;ENSP00000417235:R636Q;ENSP00000273432:R496Q	ENSP00000273432:R496Q	R	+	2	0	MED12L	152391347	1.000000	0.71417	0.947000	0.38551	0.698000	0.40448	5.761000	0.68801	1.391000	0.46566	0.655000	0.94253	CGG		0.502	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	62	0	0	0	0	7	62				
MED12L	116931	broad.mit.edu	37	3	151129190	151129190	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:151129190C>G	ENST00000474524.1	+	39	5968	c.5930C>G	c.(5929-5931)tCc>tGc	p.S1977C	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1977	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCGCACATTCCAACCCCGTG	0.582																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(5929-5931)TCC>TGC		mediator of RNA polymerase II transcription,							97.0	92.0	94.0					3																	151129190		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151129190C>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5930C>G	3.37:g.151129190C>G	ENSP00000417235:p.Ser1977Cys					MED12L_uc011bnz.1_Intron	p.S1977C	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		39	5968	+			1977			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.5930C>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992916	0.74703	.	.	ENSG00000144893	ENST00000474524	T	0.59224	0.28	5.75	5.75	0.90469	Mediator complex, subunit Med12, catenin-binding (1);	0.202877	0.47093	D	0.000243	T	0.72953	0.3525	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.74000	-0.3805	10	0.72032	D	0.01	-20.7131	17.7294	0.88373	0.0:1.0:0.0:0.0	.	1977	Q86YW9	MD12L_HUMAN	C	1977	ENSP00000417235:S1977C	ENSP00000417235:S1977C	S	+	2	0	MED12L	152611880	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.434000	0.66526	2.708000	0.92522	0.650000	0.86243	TCC		0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		13	139	0	0	0	0	13	139				
KCNAB1	7881	broad.mit.edu	37	3	156175266	156175266	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:156175266G>A	ENST00000490337.1	+	4	446	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000302490.8_Missense_Mutation_p.A110T|KCNAB1_ENST00000471742.1_Missense_Mutation_p.A117T|KCNAB1_ENST00000389636.5_Missense_Mutation_p.A128T|KCNAB1_ENST00000389634.5_Missense_Mutation_p.A110T	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	128					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATGACCATCGCCTATGAAAG	0.473																																						uc003far.2		NA																	0				ovary(3)|skin(1)	4						c.(382-384)GCC>ACC		potassium voltage-gated channel, shaker-related							235.0	204.0	214.0					3																	156175266		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156175266G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.382G>A	3.37:g.156175266G>A	ENSP00000419952:p.Ala128Thr					KCNAB1_uc011bon.1_Missense_Mutation_p.A128T|KCNAB1_uc003fas.2_Missense_Mutation_p.A117T|KCNAB1_uc003fat.2_Missense_Mutation_p.A110T|KCNAB1_uc010hvt.1_Missense_Mutation_p.A110T|KCNAB1_uc011boo.1_Missense_Mutation_p.A4T	p.A128T	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		4	446	+			128					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.382G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128857	0.94473	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.48	5.48	0.80851	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	H	0.96662	3.86	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.995	D	0.84091	0.0390	10	0.87932	D	0	-18.6711	14.8543	0.70323	0.0:0.0:1.0:0.0	.	128;110;110;117;128	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	T	46;128;128;117;71;110;110	ENSP00000420755:A46T;ENSP00000419952:A128T;ENSP00000374287:A128T;ENSP00000418956:A117T;ENSP00000420221:A71T;ENSP00000305858:A110T;ENSP00000374285:A110T	ENSP00000305858:A110T	A	+	1	0	KCNAB1	157657960	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.919000	0.87513	2.554000	0.86153	0.655000	0.94253	GCC		0.473	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		17	152	0	0	0	0	17	152				
ECT2	1894	broad.mit.edu	37	3	172474799	172474799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:172474799G>A	ENST00000392692.3	+	5	506	c.330G>A	c.(328-330)atG>atA	p.M110I	ECT2_ENST00000441497.2_Missense_Mutation_p.M79I|ECT2_ENST00000232458.5_Missense_Mutation_p.M79I|ECT2_ENST00000427830.1_Missense_Mutation_p.M79I|ECT2_ENST00000540509.1_Missense_Mutation_p.M110I|ECT2_ENST00000417960.1_Missense_Mutation_p.M78I	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	110					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTGTAAAGATGGAGTCAGTGG	0.333																																						uc003fii.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(235-237)ATG>ATA		epithelial cell transforming sequence 2 oncogene							141.0	147.0	145.0					3																	172474799		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172474799G>A	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.330G>A	3.37:g.172474799G>A	ENSP00000376457:p.Met110Ile					ECT2_uc010hwv.1_Missense_Mutation_p.M110I|ECT2_uc003fih.2_Missense_Mutation_p.M78I|ECT2_uc003fij.1_Missense_Mutation_p.M79I|ECT2_uc003fik.1_Missense_Mutation_p.M79I|ECT2_uc003fil.1_Missense_Mutation_p.M110I	p.M79I	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		4	375	+	Ovarian(172;0.00197)|Breast(254;0.158)		79					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.237G>A	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957828	0.34565	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.62498	0.04;0.03;0.02;0.03;1.05;1.04;0.98;1.02;0.98;0.04;0.03	5.95	4.07	0.47477	.	0.081583	0.85682	D	0.000000	T	0.34745	0.0908	N	0.04959	-0.14	0.27303	N	0.957521	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.0;0.0	T	0.08351	-1.0726	10	0.23302	T	0.38	-15.9932	7.232	0.26049	0.1852:0.1339:0.6809:0.0	.	110;110;79;78	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	I	79;110;79;78;78;79;110;79;110;79;110	ENSP00000232458:M79I;ENSP00000376457:M110I;ENSP00000401910:M79I;ENSP00000415876:M78I;ENSP00000403501:M78I;ENSP00000412331:M79I;ENSP00000403446:M110I;ENSP00000412028:M79I;ENSP00000389108:M110I;ENSP00000412259:M79I;ENSP00000443160:M110I	ENSP00000232458:M79I	M	+	3	0	ECT2	173957493	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.650000	0.37292	2.826000	0.97356	0.491000	0.48974	ATG		0.333	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		74	107	0	0	0	0	74	107				
MAP3K13	9175	broad.mit.edu	37	3	185198087	185198087	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:185198087G>C	ENST00000265026.3	+	13	2903	c.2569G>C	c.(2569-2571)Gat>Cat	p.D857H	MAP3K13_ENST00000535426.1_Missense_Mutation_p.D713H|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D713H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D650H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D857H	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CTCTGTGTCTGATGGAGAAGA	0.473																																						uc010hyf.2		NA																	0				ovary(2)|skin(1)	3						c.(2569-2571)GAT>CAT		mitogen-activated protein kinase kinase kinase							94.0	97.0	96.0					3																	185198087		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185198087G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2569G>C	3.37:g.185198087G>C	ENSP00000265026:p.Asp857His					MAP3K13_uc011brt.1_Missense_Mutation_p.D650H|MAP3K13_uc011bru.1_Missense_Mutation_p.D713H|MAP3K13_uc003fpi.2_Missense_Mutation_p.D857H|MAP3K13_uc010hyg.2_Missense_Mutation_p.D547H	p.D857H	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		14	2835	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		857						Missense_Mutation	SNP	ENST00000265026.3	37	c.2569G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703331	0.88924	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.04509	-1.0946	10	0.87932	D	0	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	713;650;857	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	H	650;857;713;713;857	ENSP00000411483:D650H;ENSP00000399910:D857H;ENSP00000409325:D713H;ENSP00000439257:D713H;ENSP00000265026:D857H	ENSP00000265026:D857H	D	+	1	0	MAP3K13	186680781	1.000000	0.71417	0.970000	0.41538	0.908000	0.53690	9.804000	0.99143	2.686000	0.91538	0.655000	0.94253	GAT		0.473	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		16	141	0	0	0	0	16	141				
MUC4	4585	broad.mit.edu	37	3	195481222	195481222	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr3:195481222C>T	ENST00000346145.4	-	18	2521	c.2482G>A	c.(2482-2484)Ggg>Agg	p.G828R	MUC4_ENST00000475231.1_Missense_Mutation_p.G5012R|MUC4_ENST00000463781.3_Missense_Mutation_p.G5064R|MUC4_ENST00000349607.4_Missense_Mutation_p.G777R	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1821	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGGTGCCCCCGTCACACTTG	0.652																																						uc011bto.1		NA																	0					0						c.(14806-14808)GGG>AGG		mucin 4 isoform a							36.0	38.0	37.0					3																	195481222		2203	4300	6503	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195481222C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2482G>A	3.37:g.195481222C>T	ENSP00000304207:p.Gly828Arg					MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Missense_Mutation_p.G662R|MUC4_uc003fva.2_Missense_Mutation_p.G544R|MUC4_uc003fvb.2_Missense_Mutation_p.G580R|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Missense_Mutation_p.G580R|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Missense_Mutation_p.G544R|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Missense_Mutation_p.G628R|MUC4_uc011bti.1_Missense_Mutation_p.G628R|MUC4_uc011btj.1_Missense_Mutation_p.G805R|MUC4_uc011btk.1_Missense_Mutation_p.G544R|MUC4_uc011btl.1_Missense_Mutation_p.G573R|MUC4_uc011btm.1_Missense_Mutation_p.G753R|MUC4_uc011btn.1_Missense_Mutation_p.G544R|MUC4_uc003fvo.2_Missense_Mutation_p.G828R|MUC4_uc003fvp.2_Missense_Mutation_p.G777R	p.G4936R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	20	15266	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1821					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000346145.4	37	c.14806G>A	CCDS3310.1	.	.	.	.	.	.	.	.	.	.	.	13.78	2.338591	0.41398	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.37235	1.21;1.57;1.53;1.53	5.46	-6.56	0.01848	.	1.431990	0.04384	N	0.361261	T	0.12518	0.0304	N	0.11427	0.14	0.09310	N	1	P;B;B;B;B;B	0.48589	0.912;0.017;0.017;0.007;0.007;0.066	B;B;B;B;B;B	0.35655	0.207;0.004;0.004;0.003;0.003;0.01	T	0.26883	-1.0090	10	0.21014	T	0.42	-0.982	3.6079	0.08049	0.0949:0.2737:0.1447:0.4867	.	4936;777;828;5064;5012;1769	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	R	777;828;5064;5012;1564	ENSP00000338109:G777R;ENSP00000304207:G828R;ENSP00000417498:G5064R;ENSP00000420243:G5012R	ENSP00000304207:G828R	G	-	1	0	MUC4	196966893	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.496000	0.02291	-0.768000	0.04626	-0.476000	0.04901	GGG		0.652	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		25	44	0	0	0	0	25	44				
NELFA	7469	broad.mit.edu	37	4	1985365	1985365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:1985365G>A	ENST00000411638.2	-	10	1375	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S	NELFA_ENST00000542778.1_Missense_Mutation_p.P319S|NELFA_ENST00000382882.3_Missense_Mutation_p.P465S|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	454					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCCTTCTCGGGCCGCGTGACT	0.677																																						uc003gem.2		NA																	0				skin(1)	1						c.(1393-1395)CCC>TCC		Wolf-Hirschhorn syndrome candidate 2 protein							58.0	63.0	61.0					4																	1985365		2203	4300	6503	SO:0001583	missense	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985365G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1360C>T	4.37:g.1985365G>A	ENSP00000399165:p.Pro454Ser					WHSC2_uc003gek.2_Missense_Mutation_p.P191S|WHSC2_uc003gel.2_Missense_Mutation_p.P379S|WHSC2_uc003gen.2_Missense_Mutation_p.P319S	p.P465S	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		10	1633	-			454					A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1393C>T		.	.	.	.	.	.	.	.	.	.	G	18.91	3.723135	0.68959	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.63428	1.95	0.80722	D	1	P	0.42584	0.784	P	0.47626	0.552	T	0.66999	-0.5781	10	0.45353	T	0.12	-22.9489	17.9212	0.88966	0.0:0.0:1.0:0.0	.	454	Q9H3P2	NELFA_HUMAN	S	465;458;319;454	ENSP00000372335:P465S;ENSP00000387647:P458S;ENSP00000445757:P319S;ENSP00000399165:P454S	ENSP00000372335:P465S	P	-	1	0	WHSC2	1955163	1.000000	0.71417	0.990000	0.47175	0.366000	0.29705	7.732000	0.84908	2.248000	0.74166	0.462000	0.41574	CCC		0.677	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		11	26	0	0	0	0	11	26				
C4orf6	10141	broad.mit.edu	37	4	5528029	5528029	+	Missense_Mutation	SNP	G	G	A	rs200623246		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5528029G>A	ENST00000195455.2	+	2	428	c.253G>A	c.(253-255)Ggt>Agt	p.G85S	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	85					nervous system development (GO:0007399)					large_intestine(1)|prostate(1)	2						GACTGTCTCCGGTGCTCACTC	0.438																																						uc003gii.2		NA																	0					0						c.(253-255)GGT>AGT		chromosome 4 open reading frame 6		G	SER/GLY	0,4406		0,0,2203	102.0	94.0	97.0		253	-1.8	0.0	4		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	C4orf6	NM_005750.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	85/94	5528029	1,13005	2203	4300	6503	SO:0001583	missense	10141				nervous system development			g.chr4:5528029G>A	D82070	CCDS3381.1	4p16	2012-02-24			ENSG00000082929	ENSG00000082929			13716	protein-coding gene	gene with protein product						9016955	Standard	NM_005750		Approved	aC1	uc003gii.3	Q99440	OTTHUMG00000125492	ENST00000195455.2:c.253G>A	4.37:g.5528029G>A	ENSP00000195455:p.Gly85Ser						p.G85S	NM_005750	NP_005741	Q99440	CD006_HUMAN			2	428	+			85					Q17R65	Missense_Mutation	SNP	ENST00000195455.2	37	c.253G>A	CCDS3381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	1.517|1.517	-0.547975|-0.547975	0.04024|0.04024	0.0|0.0	1.16E-4|1.16E-4	ENSG00000082929|ENSG00000082929	ENST00000195455|ENST00000505296	T|.	0.59083|.	0.29|.	1.51|1.51	-1.76|-1.76	0.08006|0.08006	.|.	.|.	.|.	.|.	.|.	T|T	0.21267|0.21267	0.0512|0.0512	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.25537|0.25537	-1.0129|-1.0129	8|4	0.87932|.	D|.	0|.	.|.	3.7583|3.7583	0.08593|0.08593	0.1874:0.0:0.5833:0.2292|0.1874:0.0:0.5833:0.2292	.|.	85|.	Q99440|.	CD006_HUMAN|.	S|Q	85|72	ENSP00000195455:G85S|.	ENSP00000195455:G85S|.	G|R	+|+	1|2	0|0	C4orf6|C4orf6	5578930|5578930	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.521000|-1.521000	0.02239|0.02239	-0.719000|-0.719000	0.04942|0.04942	-1.533000|-1.533000	0.00918|0.00918	GGT|CGG		0.438	C4orf6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246818.1	NM_005750		6	40	0	0	0	0	6	40				
EVC2	132884	broad.mit.edu	37	4	5624705	5624705	+	Missense_Mutation	SNP	C	C	T	rs144420242		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5624705C>T	ENST00000344408.5	-	14	2113	c.2060G>A	c.(2059-2061)cGt>cAt	p.R687H	EVC2_ENST00000344938.1_Missense_Mutation_p.R687H|EVC2_ENST00000310917.2_Missense_Mutation_p.R607H	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	687					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTGCTCCCTACGCTGCTCCCT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15315	0.0		0.0	False		,,,				2504	0.001					uc003gij.2		NA																	0				large_intestine(3)|ovary(2)	5						c.(2059-2061)CGT>CAT		limbin		C	HIS/ARG,HIS/ARG	3,4403		0,3,2200	28.0	34.0	32.0		1820,2060	4.3	0.8	4	dbSNP_134	32	7,8587		0,7,4290	yes	missense,missense	EVC2	NM_001166136.1,NM_147127.4	29,29	0,10,6490	TT,TC,CC		0.0815,0.0681,0.0769	probably-damaging,probably-damaging	607/1229,687/1309	5624705	10,12990	2203	4297	6500	SO:0001583	missense	132884					integral to membrane		g.chr4:5624705C>T	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2060G>A	4.37:g.5624705C>T	ENSP00000342144:p.Arg687His					EVC2_uc011bwb.1_Missense_Mutation_p.R127H|EVC2_uc003gik.2_Missense_Mutation_p.R607H	p.R687H	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			14	2114	-			687			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2060G>A	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978470	0.34942	6.81E-4	8.15E-4	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.77098	-1.07;-1.06;-1.06	5.12	4.26	0.50523	.	0.146227	0.49916	D	0.000135	T	0.78477	0.4289	L	0.50333	1.59	0.23827	N	0.996735	D	0.65815	0.995	P	0.54924	0.764	T	0.70048	-0.4979	10	0.62326	D	0.03	-28.6874	7.9637	0.30087	0.0:0.737:0.0:0.263	.	687	Q86UK5	LBN_HUMAN	H	687;607;687	ENSP00000339954:R687H;ENSP00000311683:R607H;ENSP00000342144:R687H	ENSP00000311683:R607H	R	-	2	0	EVC2	5675606	0.190000	0.23276	0.830000	0.32933	0.023000	0.10783	0.596000	0.24044	1.123000	0.41961	0.462000	0.41574	CGT		0.592	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		10	29	0	0	0	0	10	29				
C4orf50	389197	broad.mit.edu	37	4	5961120	5961120	+	Silent	SNP	C	C	T	rs368880548		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:5961120C>T	ENST00000324058.5	-	7	902	c.813G>A	c.(811-813)ccG>ccA	p.P271P	C4orf50_ENST00000531445.1_Silent_p.P745P			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	271										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTAACTCCAGCGGTGATTTAT	0.458																																						uc003git.1		NA																	0				pancreas(2)|breast(1)	3						c.(811-813)CCG>CCA		hypothetical protein LOC389197		C		0,4406		0,0,2203	110.0	108.0	109.0		813	-4.3	0.2	4		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C4orf50	XM_003118524.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		271/277	5961120	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	389197							g.chr4:5961120C>T	BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.813G>A	4.37:g.5961120C>T							p.P271P	NM_207405	NP_997288	Q6ZRC1	CD050_HUMAN			7	903	-			271						Silent	SNP	ENST00000324058.5	37	c.813G>A																																																																																					0.458	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_207405		16	100	0	0	0	0	16	100				
CSN3	1448	broad.mit.edu	37	4	71114847	71114847	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:71114847C>G	ENST00000304954.3	+	4	306	c.220C>G	c.(220-222)Cca>Gca	p.P74A		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATTAATAATCCATATGTGCC	0.433																																						uc003hfe.3		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(220-222)CCA>GCA		casein kappa precursor							121.0	113.0	116.0					4																	71114847		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114847C>G	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.220C>G	4.37:g.71114847C>G	ENSP00000304822:p.Pro74Ala						p.P74A	NM_005212	NP_005203	P07498	CASK_HUMAN			4	278	+			74					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.220C>G	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276663	0.59758	.	.	ENSG00000171209	ENST00000304954	T	0.26067	1.76	4.38	4.38	0.52667	.	0.131490	0.35615	N	0.003081	T	0.36386	0.0965	L	0.39898	1.24	0.28068	N	0.932687	D	0.64830	0.994	P	0.60473	0.875	T	0.06716	-1.0811	10	0.52906	T	0.07	-13.3318	12.7469	0.57285	0.0:1.0:0.0:0.0	.	74	P07498	CASK_HUMAN	A	74	ENSP00000304822:P74A	ENSP00000304822:P74A	P	+	1	0	CSN3	71149436	0.784000	0.28713	0.759000	0.31340	0.031000	0.12232	1.667000	0.37471	2.733000	0.93635	0.557000	0.71058	CCA		0.433	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		8	56	0	0	0	0	8	56				
FRAS1	80144	broad.mit.edu	37	4	79460452	79460452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:79460452G>A	ENST00000264895.6	+	73	11743	c.11303G>A	c.(11302-11304)cGc>cAc	p.R3768H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3764					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCTAGGACCGCAATCAGCCA	0.438																																						uc003hlb.2		NA																	0				large_intestine(5)	5						c.(11302-11304)CGC>CAC		Fraser syndrome 1							124.0	119.0	121.0					4																	79460452		1915	4120	6035	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79460452G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11303G>A	4.37:g.79460452G>A	ENSP00000264895:p.Arg3768His						p.R3768H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			73	11743	+			3763			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11303G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164928	0.94727	.	.	ENSG00000138759	ENST00000264895	T	0.66460	-0.21	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83054	-0.0151	10	0.87932	D	0	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	3768	E9PHH6	.	H	3768	ENSP00000264895:R3768H	ENSP00000264895:R3768H	R	+	2	0	FRAS1	79679476	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	9.662000	0.98603	2.780000	0.95670	0.655000	0.94253	CGC		0.438	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				14	72	0	0	0	0	14	72				
GK2	2712	broad.mit.edu	37	4	80327860	80327860	+	Missense_Mutation	SNP	G	G	A	rs267600272		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:80327860G>A	ENST00000358842.3	-	1	1512	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTGGCATAACGAATTTCACTT	0.478																																						uc003hlu.2		NA																	0				ovary(2)|skin(2)	4						c.(1495-1497)CGT>TGT		glycerol kinase 2							147.0	133.0	138.0					4																	80327860		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80327860G>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1495C>T	4.37:g.80327860G>A	ENSP00000351706:p.Arg499Cys						p.R499C	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	1513	-			499	R -> C (in Ref. 2; BAF84930).				Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1495C>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393039	0.42410	.	.	ENSG00000196475	ENST00000358842	D	0.90732	-2.72	3.91	3.91	0.45181	.	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.72118	2.19	0.80722	D	1	B	0.22983	0.078	B	0.18263	0.021	D	0.87454	0.2403	10	0.46703	T	0.11	-7.5005	14.2114	0.65767	0.0:0.0:1.0:0.0	.	499	Q14410	GLPK2_HUMAN	C	499	ENSP00000351706:R499C	ENSP00000351706:R499C	R	-	1	0	GK2	80546884	1.000000	0.71417	0.490000	0.27465	0.929000	0.56500	4.767000	0.62286	2.477000	0.83638	0.585000	0.79938	CGT		0.478	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		12	77	0	0	0	0	12	77				
GRID2	2895	broad.mit.edu	37	4	94377124	94377124	+	Splice_Site	SNP	A	A	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:94377124A>C	ENST00000282020.4	+	11	2115	c.1857A>C	c.(1855-1857)caA>caC	p.Q619H	GRID2_ENST00000510992.1_Splice_Site_p.Q524H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	619					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTGTACAACAAGGTAAGGAGC	0.353																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(1855-1857)CAA>CAC		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						127.0	116.0	120.0					4																	94377124		2203	4300	6503	SO:0001630	splice_region_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94377124A>C	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1858+1A>C	4.37:g.94377124A>C						GRID2_uc011cdu.1_Missense_Mutation_p.Q524H	p.Q619H	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	2115	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	619			Cytoplasmic (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1857A>C	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287266	0.59867	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;T	0.97378	-4.36;0.22	6.17	6.17	0.99709	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98865	0.9616	M	0.93978	3.48	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.81914	0.995;0.995	D	0.99616	1.0982	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	524;619	E9PH24;O43424	.;GRID2_HUMAN	H	619;524	ENSP00000282020:Q619H;ENSP00000421257:Q524H	ENSP00000282020:Q619H	Q	+	3	2	GRID2	94596147	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.784000	0.62411	2.371000	0.80710	0.533000	0.62120	CAA		0.353	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		Missense_Mutation	11	50	0	0	0	0	11	50				
INTU	27152	broad.mit.edu	37	4	128627931	128627931	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:128627931G>A	ENST00000335251.6	+	12	2181	c.2078G>A	c.(2077-2079)aGa>aAa	p.R693K		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	693					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CCAACATGCAGAAGAACGCTT	0.438																																						uc003ifk.1		NA																	0				ovary(1)	1						c.(2077-2079)AGA>AAA		PDZ domain containing 6							156.0	151.0	153.0					4																	128627931		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128627931G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2078G>A	4.37:g.128627931G>A	ENSP00000334003:p.Arg693Lys					INTU_uc011cgq.1_RNA	p.R693K	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			12	2148	+			693					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2078G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	3.958	-0.010996	0.07727	.	.	ENSG00000164066	ENST00000335251	.	.	.	5.02	3.3	0.37823	.	0.095928	0.64402	D	0.000001	T	0.26159	0.0638	N	0.13043	0.29	0.80722	D	1	B	0.18610	0.029	B	0.12837	0.008	T	0.14476	-1.0471	9	0.02654	T	1	-16.2869	6.2193	0.20673	0.4044:0.0:0.5956:0.0	.	693	Q9ULD6	PDZD6_HUMAN	K	693	.	ENSP00000334003:R693K	R	+	2	0	INTU	128847381	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	1.272000	0.33109	0.822000	0.34565	-0.142000	0.14014	AGA		0.438	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		18	85	0	0	0	0	18	85				
INTU	27152	broad.mit.edu	37	4	128628077	128628077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:128628077G>A	ENST00000335251.6	+	12	2327	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	742					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GAAGCAAAGAGAATCTCAGGG	0.473																																						uc003ifk.1		NA																	0				ovary(1)	1						c.(2224-2226)GAA>AAA		PDZ domain containing 6							204.0	207.0	206.0					4																	128628077		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128628077G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2224G>A	4.37:g.128628077G>A	ENSP00000334003:p.Glu742Lys					INTU_uc011cgq.1_RNA	p.E742K	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			12	2294	+			742					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2224G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	3.042	-0.197265	0.06259	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.04	2.24	0.28232	.	0.556754	0.20290	N	0.095277	T	0.52533	0.1740	L	0.47716	1.5	0.80722	D	1	B	0.23185	0.081	B	0.18871	0.023	T	0.46317	-0.9200	9	0.27082	T	0.32	-3.4417	13.2569	0.60083	0.0:0.3052:0.6948:0.0	.	742	Q9ULD6	PDZD6_HUMAN	K	742	.	ENSP00000334003:E742K	E	+	1	0	INTU	128847527	0.992000	0.36948	0.746000	0.31095	0.050000	0.14768	3.073000	0.50057	0.620000	0.30215	-0.181000	0.13052	GAA		0.473	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		22	119	0	0	0	0	22	119				
MAP9	79884	broad.mit.edu	37	4	156281422	156281422	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr4:156281422C>A	ENST00000311277.4	-	7	1211	c.948G>T	c.(946-948)aaG>aaT	p.K316N	MAP9_ENST00000515654.1_Missense_Mutation_p.K292N|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	316					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CCGCTTTTGCCTTTTCTTCTT	0.378																																						uc003ios.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(946-948)AAG>AAT		aster-associated protein							165.0	147.0	153.0					4																	156281422		2203	4300	6503	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156281422C>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.948G>T	4.37:g.156281422C>A	ENSP00000310593:p.Lys316Asn					MAP9_uc011cin.1_Missense_Mutation_p.K291N|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K315N	p.K316N	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	7	1212	-	all_hematologic(180;0.24)	Renal(120;0.0458)	316			Potential.		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.948G>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425694	0.62733	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.32515	2.19;2.18;1.45	5.3	4.45	0.53987	.	0.433309	0.21488	N	0.073731	T	0.38719	0.1051	L	0.46157	1.445	0.58432	D	0.999997	P;D;D	0.63046	0.557;0.992;0.992	B;P;P	0.59357	0.368;0.856;0.856	T	0.10154	-1.0642	10	0.18276	T	0.48	-11.218	9.3156	0.37932	0.0:0.8989:0.0:0.1011	.	291;316;316	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	N	316;292;315;316	ENSP00000310593:K316N;ENSP00000427402:K292N;ENSP00000394048:K315N	ENSP00000310593:K316N	K	-	3	2	MAP9	156500872	0.005000	0.15991	0.918000	0.36340	0.894000	0.52154	0.816000	0.27267	1.341000	0.45600	0.591000	0.81541	AAG		0.378	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		9	50	1	0	2.74e-10	2.99e-10	9	50				
SEMA5A	9037	broad.mit.edu	37	5	9119159	9119159	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:9119159T>C	ENST00000382496.5	-	15	2541	c.1876A>G	c.(1876-1878)Act>Gct	p.T626A		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	626	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCCTGGGAGTGGGGTTGCTG	0.667																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1876-1878)ACT>GCT		semaphorin 5A precursor							37.0	37.0	37.0					5																	9119159		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9119159T>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1876A>G	5.37:g.9119159T>C	ENSP00000371936:p.Thr626Ala						p.T626A	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			15	2588	-			626			TSP type-1 2.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.1876A>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	T	6.462	0.453386	0.12283	.	.	ENSG00000112902	ENST00000382496	T	0.16743	2.32	5.33	4.16	0.48862	.	0.216858	0.47455	N	0.000224	T	0.04452	0.0122	N	0.01277	-0.915	0.45015	D	0.998034	B	0.11235	0.004	B	0.16722	0.016	T	0.28902	-1.0029	10	0.02654	T	1	.	6.81	0.23799	0.0:0.1825:0.0:0.8175	.	626	Q13591	SEM5A_HUMAN	A	626	ENSP00000371936:T626A	ENSP00000371936:T626A	T	-	1	0	SEMA5A	9172159	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	2.039000	0.41193	0.863000	0.35553	0.455000	0.32223	ACT		0.667	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			9	38	0	0	0	0	9	38				
MARCH6	10299	broad.mit.edu	37	5	10407240	10407240	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:10407240G>A	ENST00000274140.5	+	17	1611	c.1479G>A	c.(1477-1479)ctG>ctA	p.L493L	MARCH6_ENST00000503788.1_Silent_p.L388L|MARCH6_ENST00000449913.2_Silent_p.L445L|MARCH6_ENST00000510792.1_Silent_p.L191L	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	493					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTGTCCTCCTGATGCTTTGGC	0.408																																						uc003jet.1		NA																	0				ovary(1)|breast(1)	2						c.(1477-1479)CTG>CTA		membrane-associated ring finger (C3HC4) 6							348.0	315.0	326.0					5																	10407240		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10407240G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1479G>A	5.37:g.10407240G>A						MARCH6_uc011cmu.1_Silent_p.L445L|MARCH6_uc003jeu.1_Silent_p.L191L|MARCH6_uc011cmv.1_Silent_p.L388L	p.L493L	NM_005885	NP_005876	O60337	MARH6_HUMAN			17	1662	+			493			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1479G>A	CCDS34135.1																																																																																				0.408	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		26	293	0	0	0	0	26	293				
PRDM9	56979	broad.mit.edu	37	5	23527576	23527576	+	Missense_Mutation	SNP	T	T	A	rs371780397		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:23527576T>A	ENST00000296682.3	+	11	2561	c.2379T>A	c.(2377-2379)agT>agA	p.S793R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	793					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.S793R(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACCTCCTCAGTCACCAGAGGA	0.562										HNSCC(3;0.000094)																												uc003jgo.2		NA																	3	Substitution - Missense(3)		endometrium(3)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2377-2379)AGT>AGA		PR domain containing 9		T	ARG/SER	9,4383	762.2+/-413.1	0,9,2187	96.0	92.0	94.0		2379	-6.1	0.0	5		94	0,8594		0,0,4297	yes	missense	PRDM9	NM_020227.2	110	0,9,6484	AA,AT,TT		0.0,0.2049,0.0693	benign	793/895	23527576	9,12977	2196	4297	6493	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527576T>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2379T>A	5.37:g.23527576T>A	ENSP00000296682:p.Ser793Arg	HNSCC(3;0.000094)					p.S793R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2561	+			793			C2H2-type 11.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2379T>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.099907	0.00033	0.002049	0.0	ENSG00000164256	ENST00000296682	T	0.11821	2.74	3.07	-6.14	0.02111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36407	-0.9749	9	0.11182	T	0.66	.	1.0382	0.01553	0.2874:0.1221:0.3452:0.2453	.	793	Q9NQV7	PRDM9_HUMAN	R	793	ENSP00000296682:S793R	ENSP00000296682:S793R	S	+	3	2	PRDM9	23563333	0.000000	0.05858	0.003000	0.11579	0.247000	0.25773	-7.606000	0.00033	-2.109000	0.00838	-0.750000	0.03501	AGT		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	154	0	0	0	0	5	154				
TARS	6897	broad.mit.edu	37	5	33448677	33448677	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:33448677C>T	ENST00000265112.3	+	3	480	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TARS_ENST00000455217.2_Missense_Mutation_p.R57C|TARS_ENST00000541634.1_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.R57C|TARS_ENST00000414361.2_5'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	57					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TATTTACACACGTCTTGAGAT	0.343																																						uc003jhy.2		NA																	0				ovary(2)	2						c.(169-171)CGT>TGT		threonyl-tRNA synthetase	L-Threonine(DB00156)						87.0	84.0	85.0					5																	33448677		2203	4300	6503	SO:0001583	missense	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33448677C>T	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.169C>T	5.37:g.33448677C>T	ENSP00000265112:p.Arg57Cys					TARS_uc011cob.1_Missense_Mutation_p.R45C|TARS_uc010iup.1_Translation_Start_Site|TARS_uc011coc.1_Missense_Mutation_p.R45C|TARS_uc003jhz.2_Intron|TARS_uc011cod.1_Translation_Start_Site	p.R57C	NM_152295	NP_689508	P26639	SYTC_HUMAN			3	464	+			57					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	c.169C>T	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	33	5.257566	0.95368	.	.	ENSG00000113407	ENST00000502553;ENST00000514259;ENST00000265112;ENST00000455217	T;T;T;T	0.69926	0.28;-0.44;0.28;-0.37	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.83682	0.0172	10	0.87932	D	0	-32.546	20.0713	0.97726	0.0:1.0:0.0:0.0	.	57;57	B4DEG8;P26639	.;SYTC_HUMAN	C	57	ENSP00000424387:R57C;ENSP00000422130:R57C;ENSP00000265112:R57C;ENSP00000387710:R57C	ENSP00000265112:R57C	R	+	1	0	TARS	33484434	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.752000	0.62176	2.751000	0.94390	0.585000	0.79938	CGT		0.343	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		8	85	0	0	0	0	8	85				
SLC1A3	6507	broad.mit.edu	37	5	36686248	36686248	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:36686248G>A	ENST00000265113.4	+	10	1982	c.1506G>A	c.(1504-1506)ctG>ctA	p.L502L	SLC1A3_ENST00000381918.3_Silent_p.L457L|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	502					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACATGAACTGAAGAACAGAG	0.498																																						uc003jkj.3		NA																	0					0						c.(1504-1506)CTG>CTA		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						144.0	144.0	144.0					5																	36686248		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36686248G>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1506G>A	5.37:g.36686248G>A						SLC1A3_uc011cox.1_Silent_p.L395L|SLC1A3_uc010iuy.2_Silent_p.L457L	p.L502L	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1982	+	all_lung(31;0.000245)		502					B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.1506G>A	CCDS3919.1																																																																																				0.498	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		20	198	0	0	0	0	20	198				
C5orf42	65250	broad.mit.edu	37	5	37108457	37108457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:37108457G>A	ENST00000508244.1	-	50	9448	c.9355C>T	c.(9355-9357)Ccc>Tcc	p.P3119S	C5orf42_ENST00000274258.7_Missense_Mutation_p.P2017S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P3119S			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	3119						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATCGTCCAGGGACTCACCACA	0.423																																						uc011cpa.1		NA																	0				ovary(4)|breast(2)|skin(1)	7						c.(9355-9357)CCC>TCC		hypothetical protein LOC65250							137.0	126.0	130.0					5																	37108457		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37108457G>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.9355C>T	5.37:g.37108457G>A	ENSP00000421690:p.Pro3119Ser					C5orf42_uc003jko.1_Missense_Mutation_p.P150S|C5orf42_uc003jkp.1_RNA|C5orf42_uc011coy.1_Missense_Mutation_p.P1637S|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.P2212S	p.P3119S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		51	9586	-	all_lung(31;0.000616)		3119					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.9355C>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125129	0.77436	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.78	3.91	0.45181	.	0.080843	0.52532	D	0.000071	T	0.71796	0.3382	L	0.56769	1.78	0.37836	D	0.928891	P;D	0.89917	0.886;1.0	P;D	0.87578	0.457;0.998	T	0.75266	-0.3378	10	0.87932	D	0	.	8.2346	0.31618	0.1055:0.0:0.8945:0.0	.	3119;2017	E9PH94;Q9H799	.;CE042_HUMAN	S	3119;3119;2017;2185	ENSP00000421690:P3119S;ENSP00000389014:P3119S;ENSP00000274258:P2017S;ENSP00000424223:P2185S	ENSP00000274258:P2017S	P	-	1	0	C5orf42	37144214	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.375000	0.44283	2.647000	0.89833	0.655000	0.94253	CCC		0.423	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		6	91	0	0	0	0	6	91				
MAST4	375449	broad.mit.edu	37	5	66398375	66398375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:66398375C>T	ENST00000403625.2	+	9	1377	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F	MAST4_ENST00000403666.1_Missense_Mutation_p.S172F|MAST4_ENST00000261569.7_Missense_Mutation_p.S167F|MAST4_ENST00000404260.3_Missense_Mutation_p.S364F|MAST4_ENST00000490016.2_Missense_Mutation_p.S172F|MAST4_ENST00000405643.1_Missense_Mutation_p.S182F	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	364						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGGACGTTCTCCCGCCTGC	0.373																																						uc003jut.1		NA																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(514-516)TCT>TTT		microtubule associated serine/threonine kinase							131.0	125.0	127.0					5																	66398375		1870	4108	5978	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66398375C>T	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1082C>T	5.37:g.66398375C>T	ENSP00000385727:p.Ser361Phe					MAST4_uc003jus.2_Missense_Mutation_p.S172F|MAST4_uc003juu.1_Missense_Mutation_p.S182F|MAST4_uc011cra.1_Missense_Mutation_p.S155F|MAST4_uc010ixa.2_RNA|MAST4_uc003juv.2_Missense_Mutation_p.S167F|MAST4_uc003juw.2_Missense_Mutation_p.S167F	p.S172F	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	8	583	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	364					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.515C>T	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072131	0.93950	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000436277;ENST00000432399	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	5.82	5.82	0.92795	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.092886	0.44688	U	0.000434	T	0.63628	0.2527	M	0.74881	2.28	0.46678	D	0.99915	P;D;D;P;B	0.76494	0.943;0.999;0.999;0.746;0.031	P;D;D;P;B	0.75484	0.823;0.986;0.983;0.661;0.114	T	0.65005	-0.6273	10	0.87932	D	0	-10.5632	20.0893	0.97812	0.0:1.0:0.0:0.0	.	182;364;167;172;172	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	F	364;361;172;172;182;182;167;167;167	ENSP00000385048:S364F;ENSP00000385727:S361F;ENSP00000421739:S172F;ENSP00000384313:S172F;ENSP00000384099:S182F;ENSP00000261569:S167F;ENSP00000392478:S167F	ENSP00000261569:S167F	S	+	2	0	MAST4	66434131	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.761000	0.94854	0.655000	0.94253	TCT		0.373	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			16	59	0	0	0	0	16	59				
TAF9	6880	broad.mit.edu	37	5	68660814	68660814	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:68660814C>T	ENST00000328663.4	-	3	1217	c.751G>A	c.(751-753)Gat>Aat	p.D251N	TAF9_ENST00000506736.1_Missense_Mutation_p.D251N|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.D251N|TAF9_ENST00000380818.3_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	251	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		tcatcatcatcatcttcaCGT	0.323																																						uc003jwc.1		NA																	0					0						c.(751-753)GAT>AAT		TAF9 RNA polymerase II, TATA box binding							120.0	110.0	113.0					5																	68660814		2203	4300	6503	SO:0001583	missense	6880				histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr5:68660814C>T	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.751G>A	5.37:g.68660814C>T	ENSP00000370193:p.Asp251Asn					TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.D251N|TAF9_uc003jwe.1_Missense_Mutation_p.D251N|TAF9_uc003jwf.1_Missense_Mutation_p.D251N	p.D251N	NM_003187	NP_003178	Q16594	TAF9_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	2	1083	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	251			Poly-Asp.		D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	ENST00000328663.4	37	c.751G>A	CCDS4002.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293981	0.23564	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893	T;T;T	0.38240	1.15;1.15;1.15	4.63	4.63	0.57726	.	0.150859	0.31102	N	0.008254	T	0.30479	0.0766	L	0.46157	1.445	0.44852	D	0.997866	P	0.35107	0.484	B	0.25140	0.058	T	0.16158	-1.0412	10	0.51188	T	0.08	.	15.8008	0.78453	0.0:1.0:0.0:0.0	.	251	Q16594	TAF9_HUMAN	N	251	ENSP00000421873:D251N;ENSP00000370193:D251N;ENSP00000217893:D251N	ENSP00000217893:D251N	D	-	1	0	TAF9	68696570	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	6.157000	0.71846	2.859000	0.98148	0.591000	0.81541	GAT		0.323	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		7	49	0	0	0	0	7	49				
DMGDH	29958	broad.mit.edu	37	5	78338269	78338269	+	Nonsense_Mutation	SNP	G	G	A	rs143021634	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:78338269G>A	ENST00000255189.3	-	7	1058	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	DMGDH_ENST00000380311.4_Nonsense_Mutation_p.R143*|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	344					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCATGATTCGATCTAGATCA	0.423																																						uc003kfs.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1030-1032)CGA>TGA		dimethylglycine dehydrogenase precursor							114.0	108.0	110.0					5																	78338269		2203	4300	6503	SO:0001587	stop_gained	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78338269G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1030C>T	5.37:g.78338269G>A	ENSP00000255189:p.Arg344*					DMGDH_uc011cte.1_Nonsense_Mutation_p.R194*|DMGDH_uc011ctf.1_Nonsense_Mutation_p.R143*|DMGDH_uc011ctg.1_Intron	p.R344*	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	7	1036	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	344					B2RBN0|B4E1J9	Nonsense_Mutation	SNP	ENST00000255189.3	37	c.1030C>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571197	0.65765	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	.	.	.	5.25	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5362	0.56142	0.0:0.0:0.7177:0.2823	.	.	.	.	X	344;183;143;194	.	ENSP00000255189:R344X	R	-	1	2	DMGDH	78374025	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	1.354000	0.34056	2.461000	0.83175	0.650000	0.86243	CGA		0.423	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391		11	64	0	0	0	0	11	64				
LNPEP	4012	broad.mit.edu	37	5	96314937	96314937	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:96314937C>G	ENST00000231368.5	+	2	807	c.115C>G	c.(115-117)Cta>Gta	p.L39V	LNPEP_ENST00000395770.3_Missense_Mutation_p.L25V	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	39					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTTACATCCTCTAGAGCCTGA	0.498																																						uc003kmv.1		NA																	0				ovary(3)|breast(1)	4						c.(115-117)CTA>GTA		leucyl/cystinyl aminopeptidase isoform 1							83.0	90.0	87.0					5																	96314937		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96314937C>G	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.115C>G	5.37:g.96314937C>G	ENSP00000231368:p.Leu39Val					LNPEP_uc003kmw.1_Missense_Mutation_p.L25V	p.L39V	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	629	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	39			Cytoplasmic (Potential).		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.115C>G	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228176	0.58777	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.01414	4.92;4.94	5.96	4.19	0.49359	.	0.000000	0.64402	D	0.000001	T	0.01835	0.0058	N	0.14661	0.345	0.41641	D	0.98907	D	0.64830	0.994	P	0.51945	0.685	T	0.68036	-0.5515	10	0.72032	D	0.01	.	8.5983	0.33729	0.0:0.7101:0.0:0.2899	.	39	Q9UIQ6	LCAP_HUMAN	V	39;25	ENSP00000231368:L39V;ENSP00000379117:L25V	ENSP00000231368:L39V	L	+	1	2	LNPEP	96340693	0.431000	0.25546	0.998000	0.56505	0.991000	0.79684	0.935000	0.28924	0.868000	0.35678	0.585000	0.79938	CTA		0.498	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		11	74	0	0	0	0	11	74				
FSTL4	23105	broad.mit.edu	37	5	132652228	132652228	+	Missense_Mutation	SNP	G	G	A	rs139711882	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:132652228G>A	ENST00000265342.7	-	5	775	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	176	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCAGGAGGCGCTTCTGGGAG	0.587											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	10	0.00199681	0.0045	0.0	5008	,	,		18517	0.0		0.0	False		,,,				2504	0.0041					uc003kyn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(526-528)CGC>TGC		follistatin-like 4 precursor		G	CYS/ARG	9,4397	15.5+/-35.6	0,9,2194	86.0	83.0	84.0		526	5.4	1.0	5	dbSNP_134	84	0,8600		0,0,4300	yes	missense	FSTL4	NM_015082.1	180	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	probably-damaging	176/843	132652228	9,12997	2203	4300	6503	SO:0001583	missense	23105					extracellular region	calcium ion binding	g.chr5:132652228G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.526C>T	5.37:g.132652228G>A	ENSP00000265342:p.Arg176Cys		OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1597		p.R176C	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	744	-		all_cancers(142;0.244)	176			EF-hand.		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	c.526C>T	CCDS34238.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	22.5	4.300054	0.81136	0.002043	0.0	ENSG00000053108	ENST00000265342	T	0.61274	0.12	5.41	5.41	0.78517	EF-hand-like domain (1);	0.055398	0.64402	D	0.000001	T	0.65333	0.2681	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	T	0.72001	-0.4422	10	0.87932	D	0	-34.8152	16.7213	0.85410	0.0:0.0:1.0:0.0	.	176	Q6MZW2	FSTL4_HUMAN	C	176	ENSP00000265342:R176C	ENSP00000265342:R176C	R	-	1	0	FSTL4	132680127	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	5.678000	0.68153	2.704000	0.92352	0.561000	0.74099	CGC		0.587	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		12	38	0	0	0	0	12	38				
PCDHGB4	8641	broad.mit.edu	37	5	140769023	140769023	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:140769023C>T	ENST00000519479.1	+	1	1572	c.1572C>T	c.(1570-1572)cgC>cgT	p.R524R	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	524	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCTGCGCGCCTTCGAAC	0.672																																						uc003lkc.1		NA																	0					0						c.(1570-1572)CGC>CGT		protocadherin gamma subfamily B, 4 isoform 1							40.0	46.0	44.0					5																	140769023		2044	4186	6230	SO:0001819	synonymous_variant	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769023C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1572C>T	5.37:g.140769023C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Silent_p.R524R	p.R524R	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1572	+			524			Cadherin 5.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1572C>T	CCDS54928.1																																																																																				0.672	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		21	39	0	0	0	0	21	39				
PCDHGB4	8641	broad.mit.edu	37	5	140769043	140769043	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:140769043A>T	ENST00000519479.1	+	1	1592	c.1592A>T	c.(1591-1593)cAg>cTg	p.Q531L	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACACTGCAGGCCCGCGAC	0.677																																						uc003lkc.1		NA																	0					0						c.(1591-1593)CAG>CTG		protocadherin gamma subfamily B, 4 isoform 1							35.0	41.0	39.0					5																	140769043		2048	4198	6246	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140769043A>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1592A>T	5.37:g.140769043A>T	ENSP00000428288:p.Gln531Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.Q531L	p.Q531L	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1592	+			531			Cadherin 5.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1592A>T	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	13.17	2.156249	0.38021	.	.	ENSG00000253953	ENST00000519479	T	0.59364	0.27	5.05	5.05	0.67936	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.65852	0.2731	L	0.52759	1.655	0.23260	N	0.998022	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.981	T	0.56245	-0.8011	9	0.36615	T	0.2	.	5.784	0.18322	0.7691:0.0:0.0809:0.15	.	531;531	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	L	531	ENSP00000428288:Q531L	ENSP00000428288:Q531L	Q	+	2	0	PCDHGB4	140749227	0.007000	0.16637	1.000000	0.80357	0.930000	0.56654	0.230000	0.17852	2.027000	0.59764	0.460000	0.39030	CAG		0.677	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		18	31	0	0	0	0	18	31				
TTC1	7265	broad.mit.edu	37	5	159437549	159437549	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:159437549C>T	ENST00000231238.5	+	2	124	c.14C>T	c.(13-15)tCa>tTa	p.S5L	Y_RNA_ENST00000362528.1_RNA|TTC1_ENST00000522793.1_Missense_Mutation_p.S5L	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	5					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GGGGAGAAGTCAGAGAACTGT	0.463																																						uc003lxu.2		NA																	0				skin(1)	1						c.(13-15)TCA>TTA		tetratricopeptide repeat domain 1							48.0	57.0	54.0					5																	159437549		2202	4299	6501	SO:0001583	missense	7265				protein folding		unfolded protein binding	g.chr5:159437549C>T	U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"""Tetratricopeptide (TTC) repeat domain containing"""	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.14C>T	5.37:g.159437549C>T	ENSP00000231238:p.Ser5Leu						p.S5L	NM_003314	NP_003305	Q99614	TTC1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)	2	64	+	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	5					B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	ENST00000231238.5	37	c.14C>T	CCDS4348.1	.	.	.	.	.	.	.	.	.	.	C	9.867	1.197798	0.22037	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.20598	2.06;2.06	5.25	5.25	0.73442	.	1.029670	0.07685	N	0.937774	T	0.27765	0.0683	L	0.60455	1.87	0.09310	N	0.999992	B	0.22003	0.063	B	0.22386	0.039	T	0.16867	-1.0388	10	0.39692	T	0.17	-6.8731	14.3464	0.66668	0.0:1.0:0.0:0.0	.	5	Q99614	TTC1_HUMAN	L	5	ENSP00000231238:S5L;ENSP00000429225:S5L	ENSP00000231238:S5L	S	+	2	0	TTC1	159370127	1.000000	0.71417	0.208000	0.23602	0.038000	0.13279	2.578000	0.46051	2.434000	0.82447	0.555000	0.69702	TCA		0.463	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252675.3	NM_003314		7	44	0	0	0	0	7	44				
OR2H2	7932	broad.mit.edu	37	6	29556072	29556072	+	Silent	SNP	T	T	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:29556072T>C	ENST00000383640.2	+	1	390	c.351T>C	c.(349-351)gcT>gcC	p.A117A	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	117					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGTGATGGCTTTTGATCGCT	0.587																																						uc003nmr.1		NA																	0					0						c.(349-351)GCT>GCC		olfactory receptor, family 2, subfamily H,							137.0	141.0	139.0					6																	29556072		1511	2709	4220	SO:0001819	synonymous_variant	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556072T>C		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.351T>C	6.37:g.29556072T>C						GABBR1_uc003nmp.3_Intron	p.A117A	NM_007160	NP_009091	O95918	OR2H2_HUMAN			1	390	+			117			Helical; Name=3; (Potential).		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Silent	SNP	ENST00000383640.2	37	c.351T>C	CCDS34365.1																																																																																				0.587	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			3	86	0	0	0	0	3	86				
PACSIN1	29993	broad.mit.edu	37	6	34499521	34499521	+	Silent	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:34499521C>T	ENST00000538621.1	+	9	1427	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y	PACSIN1_ENST00000244458.2_Silent_p.Y394Y|PACSIN1_ENST00000374043.2_Silent_p.Y352Y	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	394	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GGGCACTCTACGACTATGACG	0.647																																						uc003ojo.2		NA																	0					0						c.(1180-1182)TAC>TAT		protein kinase C and casein kinase substrate in							84.0	91.0	89.0					6																	34499521		2203	4300	6503	SO:0001819	synonymous_variant	29993				endocytosis		protein kinase activity	g.chr6:34499521C>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.1182C>T	6.37:g.34499521C>T						PACSIN1_uc003ojp.2_Silent_p.Y394Y	p.Y394Y	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			9	1388	+			394			SH3.		Q9P2G8	Silent	SNP	ENST00000538621.1	37	c.1182C>T	CCDS4793.1																																																																																				0.647	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			30	135	0	0	0	0	30	135				
ZNF76	7629	broad.mit.edu	37	6	35260716	35260716	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:35260716G>A	ENST00000373953.3	+	11	1490	c.1224G>A	c.(1222-1224)tcG>tcA	p.S408S	ZNF76_ENST00000339411.5_Silent_p.S408S|ZNF76_ENST00000440666.2_Silent_p.S382S	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	408					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTTACCTTTCGGAGGTGAAGG	0.612																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	uc003oki.1		NA																	0					0						c.(1222-1224)TCG>TCA		zinc finger protein 76 (expressed in testis)							82.0	91.0	88.0					6																	35260716		2203	4300	6503	SO:0001819	synonymous_variant	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35260716G>A	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1224G>A	6.37:g.35260716G>A						ZNF76_uc003okj.1_Silent_p.S408S	p.S408S	NM_003427	NP_003418	P36508	ZNF76_HUMAN			11	1429	+			408					Q9BQB2	Silent	SNP	ENST00000373953.3	37	c.1224G>A	CCDS4801.1																																																																																				0.612	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		55	55	0	0	0	0	55	55				
CPNE5	57699	broad.mit.edu	37	6	36714277	36714277	+	Missense_Mutation	SNP	C	C	T	rs150078502		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:36714277C>T	ENST00000244751.2	-	16	1720	c.1096G>A	c.(1096-1098)Gtc>Atc	p.V366I	CPNE5_ENST00000393189.2_Missense_Mutation_p.V74I|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	366	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ATCTCTCCGACGGCAGTCAGC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17441	0.0		0.0	False		,,,				2504	0.0					uc003omr.1		NA																	0				skin(1)	1						c.(1096-1098)GTC>ATC		copine V		C	ILE/VAL	8,4398	15.5+/-35.6	0,8,2195	110.0	99.0	103.0		1096	4.8	1.0	6	dbSNP_134	103	0,8600		0,0,4300	yes	missense	CPNE5	NM_020939.1	29	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	probably-damaging	366/594	36714277	8,12998	2203	4300	6503	SO:0001583	missense	57699							g.chr6:36714277C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1096G>A	6.37:g.36714277C>T	ENSP00000244751:p.Val366Ile					CPNE5_uc003omp.1_Missense_Mutation_p.V74I|CPNE5_uc010jwn.1_Missense_Mutation_p.V16I|CPNE5_uc003omq.1_Missense_Mutation_p.V16I	p.V366I	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN			16	1163	-			366			VWFA.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1096G>A	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864163	0.91511	0.001816	0.0	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.24350	1.86;1.86	4.77	4.77	0.60923	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.46614	1.455	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.13683	-1.0500	10	0.87932	D	0	.	15.2842	0.73814	0.0:1.0:0.0:0.0	.	366	Q9HCH3	CPNE5_HUMAN	I	366;74	ENSP00000244751:V366I;ENSP00000376885:V74I	ENSP00000244751:V366I	V	-	1	0	CPNE5	36822255	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.411000	0.80078	2.193000	0.70182	0.491000	0.48974	GTC		0.622	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		4	59	0	0	0	0	4	59				
ZNF292	23036	broad.mit.edu	37	6	87966228	87966228	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:87966228G>A	ENST00000369577.3	+	8	2924	c.2881G>A	c.(2881-2883)Ggc>Agc	p.G961S	ZNF292_ENST00000339907.4_Missense_Mutation_p.G956S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	961						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AACTGTGGAAGGCAGTGGTGA	0.428																																						uc003plm.3		NA																	0				ovary(4)	4						c.(2881-2883)GGC>AGC		zinc finger protein 292							85.0	82.0	83.0					6																	87966228		1930	4124	6054	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966228G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2881G>A	6.37:g.87966228G>A	ENSP00000358590:p.Gly961Ser						p.G961S	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	2922	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	961					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.2881G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	2.843	-0.239970	0.05944	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07908	3.15;3.16	5.47	4.6	0.57074	.	0.674852	0.15637	N	0.252104	T	0.02727	0.0082	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.36553	-0.9743	10	0.66056	D	0.02	.	8.723	0.34452	0.1725:0.0:0.8275:0.0	.	961	O60281	ZN292_HUMAN	S	961;956	ENSP00000358590:G961S;ENSP00000342847:G956S	ENSP00000342847:G956S	G	+	1	0	ZNF292	88022947	1.000000	0.71417	0.918000	0.36340	0.017000	0.09413	2.570000	0.45981	1.452000	0.47756	0.591000	0.81541	GGC		0.428	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		18	47	0	0	0	0	18	47				
C6orf165	154313	broad.mit.edu	37	6	88126412	88126412	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:88126412G>A	ENST00000507897.1	+	6	581	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C6ORF165_ENST00000369562.4_Silent_p.Q166Q			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	166										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TTTTTCCTCAGGCAGAGCTTG	0.338																																						uc003plv.2		NA																	0				central_nervous_system(1)	1						c.(496-498)CAG>CAA		hypothetical protein LOC154313 isoform 1							63.0	64.0	64.0					6																	88126412		2203	4300	6503	SO:0001819	synonymous_variant	154313							g.chr6:88126412G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.498G>A	6.37:g.88126412G>A						C6orf165_uc003plw.2_5'UTR|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Silent_p.Q166Q	p.Q166Q	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	6	590	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	166					A8K969|E1P507|Q8N9U4	Silent	SNP	ENST00000507897.1	37	c.498G>A	CCDS34498.1																																																																																				0.338	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		25	12	0	0	0	0	25	12				
GOPC	57120	broad.mit.edu	37	6	117890830	117890830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:117890830C>T	ENST00000368498.2	-	7	1057	c.982G>A	c.(982-984)Gga>Aga	p.G328R	GOPC_ENST00000052569.6_Missense_Mutation_p.G320R|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000535237.1_Missense_Mutation_p.G328R|GOPC_ENST00000467125.1_5'UTR	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	328	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TGCAGCCCTCCGCATCTATCA	0.458			O	ROS1	glioblastoma																																	uc003pxu.2		NA		Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma		0				ovary(1)	1						c.(982-984)GGA>AGA		golgi associated PDZ and coiled-coil motif							188.0	186.0	187.0					6																	117890830		2203	4300	6503	SO:0001583	missense	57120				apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding	g.chr6:117890830C>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.982G>A	6.37:g.117890830C>T	ENSP00000357484:p.Gly328Arg					GOPC_uc003pxq.1_Missense_Mutation_p.G101R|DCBLD1_uc003pxs.2_3'UTR|GOPC_uc003pxv.2_Missense_Mutation_p.G320R	p.G328R	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	7	1212	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)	328			PDZ.		A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.982G>A	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495448	0.85069	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.72505	-0.66;-0.66;-0.66	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.053595	0.85682	D	0.000000	T	0.70307	0.3209	M	0.88031	2.925	0.80722	D	1	P;D;P	0.53462	0.951;0.96;0.556	B;B;B	0.40477	0.222;0.33;0.223	T	0.75728	-0.3216	10	0.36615	T	0.2	-3.515	19.9145	0.97053	0.0:1.0:0.0:0.0	.	320;328;328	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	R	320;328;328	ENSP00000052569:G320R;ENSP00000357484:G328R;ENSP00000445690:G328R	ENSP00000052569:G320R	G	-	1	0	GOPC	117997523	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.883000	0.63128	2.707000	0.92482	0.557000	0.71058	GGA		0.458	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		31	96	0	0	0	0	31	96				
EYA4	2070	broad.mit.edu	37	6	133783571	133783571	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:133783571C>A	ENST00000367895.5	+	8	1000	c.536C>A	c.(535-537)aCa>aAa	p.T179K	EYA4_ENST00000431403.2_Missense_Mutation_p.T179K|EYA4_ENST00000531901.1_Missense_Mutation_p.T179K|EYA4_ENST00000525849.1_Missense_Mutation_p.T156K|EYA4_ENST00000355167.3_Missense_Mutation_p.T179K|EYA4_ENST00000355286.6_Missense_Mutation_p.T156K|EYA4_ENST00000430974.2_Missense_Mutation_p.T125K|EYA4_ENST00000452339.2_Missense_Mutation_p.T125K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	179					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCCGTCTACACAGCCTACTCA	0.507																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(535-537)ACA>AAA		eyes absent 4 isoform a							161.0	140.0	147.0					6																	133783571		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783571C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.536C>A	6.37:g.133783571C>A	ENSP00000356870:p.Thr179Lys					EYA4_uc011ecq.1_Missense_Mutation_p.T125K|EYA4_uc011ecr.1_Missense_Mutation_p.T125K|EYA4_uc003qed.3_Missense_Mutation_p.T179K|EYA4_uc003qee.3_Missense_Mutation_p.T156K|EYA4_uc011ecs.1_Missense_Mutation_p.T179K|uc003qef.1_Intron	p.T179K	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	8	994	+	Colorectal(23;0.221)		179					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.536C>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558242	0.86231	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.96	5.96	0.96718	.	0.042955	0.85682	D	0.000000	D	0.88676	0.6501	L	0.61218	1.895	0.80722	D	1	P;P;P;D;P;P	0.56035	0.523;0.837;0.949;0.974;0.696;0.837	P;P;P;P;P;P	0.51415	0.457;0.457;0.669;0.669;0.457;0.457	D	0.88189	0.2876	10	0.54805	T	0.06	-19.8999	20.4192	0.99033	0.0:1.0:0.0:0.0	.	179;125;125;156;179;179	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	K	125;125;179;179;156;179;156;179	ENSP00000395916:T125K;ENSP00000388670:T125K;ENSP00000356870:T179K;ENSP00000347294:T179K;ENSP00000347434:T156K;ENSP00000432770:T179K;ENSP00000433219:T156K;ENSP00000404558:T179K	ENSP00000347294:T179K	T	+	2	0	EYA4	133825264	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	ACA		0.507	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		9	55	1	0	0.000274275	0.000286353	9	55				
SDK1	221935	broad.mit.edu	37	7	4272924	4272924	+	Silent	SNP	G	G	A	rs144472783		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:4272924G>A	ENST00000404826.2	+	41	6004	c.5865G>A	c.(5863-5865)ccG>ccA	p.P1955P	SDK1_ENST00000466611.1_3'UTR|SDK1_ENST00000389531.3_Silent_p.P1935P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1955	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGACATCCCGCGGAGCGCCA	0.597																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(5863-5865)CCG>CCA		sidekick 1 precursor		G		0,4406		0,0,2203	88.0	78.0	81.0		5865	-3.3	0.8	7	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1955/2214	4272924	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4272924G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5865G>A	7.37:g.4272924G>A						SDK1_uc010kso.2_Silent_p.P1211P|SDK1_uc003smy.2_Silent_p.P442P|SDK1_uc003smz.2_Silent_p.P15P	p.P1955P	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	41	6004	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1955			Fibronectin type-III 13.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.5865G>A	CCDS34590.1																																																																																				0.597	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	50	0	0	0	0	10	50				
C7orf31	136895	broad.mit.edu	37	7	25175685	25175685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:25175685G>A	ENST00000409280.1	-	10	1987	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	C7orf31_ENST00000283905.3_Missense_Mutation_p.S560L			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	560										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTCTAGAATTGATTTATGGAA	0.403																																						uc003sxn.1		NA																	0					0						c.(1678-1680)TCA>TTA		hypothetical protein LOC136895							116.0	115.0	115.0					7																	25175685		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25175685G>A	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1679C>T	7.37:g.25175685G>A	ENSP00000386604:p.Ser560Leu					C7orf31_uc003sxm.1_Missense_Mutation_p.S402L	p.S560L	NM_138811	NP_620166	Q8N865	CG031_HUMAN			10	2240	-			560					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.1679C>T	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109051	0.37242	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.06849	3.25;3.25	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000003	T	0.17534	0.0421	M	0.68952	2.095	0.27547	N	0.950616	P	0.51537	0.946	P	0.53313	0.723	T	0.09100	-1.0690	10	0.87932	D	0	-9.5515	8.5542	0.33471	0.0777:0.0:0.7686:0.1536	.	560	Q8N865	CG031_HUMAN	L	560	ENSP00000386604:S560L;ENSP00000283905:S560L	ENSP00000283905:S560L	S	-	2	0	C7orf31	25142210	0.993000	0.37304	0.951000	0.38953	0.858000	0.48976	3.236000	0.51336	2.689000	0.91719	0.561000	0.74099	TCA		0.403	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		16	83	0	0	0	0	16	83				
STARD3NL	83930	broad.mit.edu	37	7	38259205	38259205	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:38259205T>G	ENST00000009041.7	+	7	850	c.593T>G	c.(592-594)cTt>cGt	p.L198R	STARD3NL_ENST00000544203.1_Missense_Mutation_p.L191R|STARD3NL_ENST00000396013.1_Missense_Mutation_p.L198R|STARD3NL_ENST00000434197.1_Missense_Mutation_p.L180R	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	198	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						AGGGCAGCACTTATACCTGGT	0.418																																						uc003tfr.2		NA																	0				ovary(1)	1						c.(592-594)CTT>CGT		MLN64 N-terminal homolog							162.0	150.0	154.0					7																	38259205		2203	4300	6503	SO:0001583	missense	83930					integral to membrane|late endosome membrane		g.chr7:38259205T>G	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.593T>G	7.37:g.38259205T>G	ENSP00000009041:p.Leu198Arg					STARD3NL_uc003tfs.2_Missense_Mutation_p.L198R|STARD3NL_uc003tft.2_Missense_Mutation_p.L180R	p.L198R	NM_032016	NP_114405	O95772	MENTO_HUMAN			7	741	+			198			Cytoplasmic (Potential).|MENTAL.		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.593T>G	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.154211	0.57259	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000429075	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.89	5.89	0.94794	MENTAL domain (2);	0.123995	0.56097	D	0.000033	T	0.60971	0.2310	M	0.83603	2.65	0.46241	D	0.998944	B;B	0.33448	0.412;0.412	B;B	0.41764	0.366;0.305	T	0.65590	-0.6131	10	0.87932	D	0	-15.6077	15.2942	0.73891	0.0:0.0:0.0:1.0	.	180;198	C9JKL2;O95772	.;MENTO_HUMAN	R	198;191;180;198;198	ENSP00000009041:L198R;ENSP00000439436:L191R;ENSP00000394000:L180R;ENSP00000379334:L198R;ENSP00000402028:L198R	ENSP00000009041:L198R	L	+	2	0	STARD3NL	38225730	0.968000	0.33430	0.256000	0.24389	0.542000	0.35054	4.292000	0.59031	2.254000	0.74563	0.523000	0.50628	CTT		0.418	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			8	84	0	0	0	0	8	84				
MYL7	58498	broad.mit.edu	37	7	44179945	44179945	+	Missense_Mutation	SNP	G	G	A	rs142668114		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:44179945G>A	ENST00000223364.3	-	4	301	c.275C>T	c.(274-276)aCg>aTg	p.T92M	MYL7_ENST00000458240.1_Missense_Mutation_p.T65M|MYL7_ENST00000434895.1_5'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	92						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						CCCAAAGAGCGTGAGGAAGAC	0.642																																						uc003tkg.2		NA																	0					0						c.(274-276)ACG>ATG		myosin light chain 2a		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	137.0	115.0	122.0		275	4.6	1.0	7	dbSNP_134	122	0,8600		0,0,4300	no	missense	MYL7	NM_021223.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	92/176	44179945	1,13005	2203	4300	6503	SO:0001583	missense	58498				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity	g.chr7:44179945G>A	M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.275C>T	7.37:g.44179945G>A	ENSP00000223364:p.Thr92Met						p.T92M	NM_021223	NP_067046	Q01449	MLRA_HUMAN			4	287	-			92					B2R4L3	Missense_Mutation	SNP	ENST00000223364.3	37	c.275C>T	CCDS5478.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585255	0.66105	2.27E-4	0.0	ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314;ENST00000447951	T;T;T;T;T	0.79247	2.9;-1.25;-1.25;-1.25;2.9	4.56	4.56	0.56223	EF-hand-like domain (1);	0.305573	0.34200	N	0.004171	D	0.86268	0.5892	M	0.83483	2.645	0.41237	D	0.986616	D	0.60575	0.988	P	0.56563	0.801	D	0.89273	0.3606	10	0.72032	D	0.01	.	16.0976	0.81139	0.0:0.0:1.0:0.0	.	92	Q01449	MLRA_HUMAN	M	19;92;65;114;121	ENSP00000416010:T19M;ENSP00000223364:T92M;ENSP00000403360:T65M;ENSP00000389202:T114M;ENSP00000403988:T121M	ENSP00000223364:T92M	T	-	2	0	MYL7	44146470	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.793000	0.55484	2.084000	0.62774	0.549000	0.68633	ACG		0.642	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059446.4	NM_021223		10	71	0	0	0	0	10	71				
CCT6A	908	broad.mit.edu	37	7	56124052	56124052	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:56124052G>C	ENST00000275603.4	+	5	778	c.559G>C	c.(559-561)Gat>Cat	p.D187H	SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000335503.3_Missense_Mutation_p.D142H|CCT6A_ENST00000540286.1_Missense_Mutation_p.D156H	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	187					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAACCTATTGATCTCTTCAT	0.393																																						uc003trl.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(559-561)GAT>CAT		chaperonin containing TCP1, subunit 6A isoform							118.0	109.0	112.0					7																	56124052		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56124052G>C	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.559G>C	7.37:g.56124052G>C	ENSP00000275603:p.Asp187His					PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D142H|CCT6A_uc011kcu.1_Missense_Mutation_p.D156H	p.D187H	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	723	+	Breast(14;0.214)		187					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.559G>C	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272401	0.80580	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.28255	1.62;1.62;1.62	5.72	5.72	0.89469	.	0.044816	0.85682	D	0.000000	T	0.69360	0.3102	H	0.95645	3.7	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.79784	0.993;0.989;0.984	T	0.78851	-0.2041	10	0.87932	D	0	-22.3279	18.9261	0.92546	0.0:0.0:1.0:0.0	.	156;142;187	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	H	187;142;156;45	ENSP00000275603:D187H;ENSP00000352019:D142H;ENSP00000438488:D156H	ENSP00000275603:D187H	D	+	1	0	CCT6A	56091546	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.278000	0.78587	2.710000	0.92621	0.556000	0.70494	GAT		0.393	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		10	68	0	0	0	0	10	68				
SLC25A40	55972	broad.mit.edu	37	7	87476268	87476268	+	Silent	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:87476268G>A	ENST00000341119.5	-	8	973	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	209					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TCCTACCTGAGAAAGGTACAT	0.378																																						uc003uje.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(625-627)TTC>TTT		mitochondrial carrier family protein							74.0	80.0	78.0					7																	87476268		2203	4300	6503	SO:0001819	synonymous_variant	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87476268G>A	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.627C>T	7.37:g.87476268G>A							p.F209F	NM_018843	NP_061331	Q8TBP6	S2540_HUMAN			8	978	-	Esophageal squamous(14;0.00202)		209			Helical; Name=4; (Potential).|Solcar 2.		A8K483|D6W5P6|Q53GB1|Q9UHR1	Silent	SNP	ENST00000341119.5	37	c.627C>T	CCDS5610.1																																																																																				0.378	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		11	56	0	0	0	0	11	56				
PEX1	5189	broad.mit.edu	37	7	92136441	92136441	+	Splice_Site	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:92136441C>T	ENST00000248633.4	-	10	1766		c.e10-1		PEX1_ENST00000428214.1_Splice_Site|PEX1_ENST00000541751.1_Splice_Site|PEX1_ENST00000438045.1_Splice_Site	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1						ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCACTCCTCTGTAAAAAAT	0.403																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.e10-1		peroxin1							49.0	50.0	50.0					7																	92136441		2203	4300	6503	SO:0001630	splice_region_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92136441C>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1671-1G>A	7.37:g.92136441C>T						PEX1_uc011khr.1_Splice_Site_p.G349_splice|PEX1_uc010ley.2_Splice_Site_p.G557_splice|PEX1_uc011khs.1_Splice_Site_p.G235_splice|PEX1_uc011kht.1_Splice_Site	p.G557_splice	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		10	1767	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)						A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Splice_Site	SNP	ENST00000248633.4	37	c.1671_splice	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061315	0.36373	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2073	0.89859	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PEX1	91974377	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	6.997000	0.76270	2.725000	0.93324	0.555000	0.69702	.		0.403	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	Intron	4	21	0	0	0	0	4	21				
COG5	10466	broad.mit.edu	37	7	107053006	107053006	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:107053006C>T	ENST00000347053.3	-	7	753	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	COG5_ENST00000393603.2_Missense_Mutation_p.A235T|COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.A235T	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	235					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCAAGTCGGGCTCTTGCAATA	0.328																																						uc003ved.2		NA																	0				central_nervous_system(2)|skin(2)	4						c.(703-705)GCC>ACC		component of oligomeric golgi complex 5 isoform							70.0	71.0	71.0					7																	107053006		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107053006C>T	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.703G>A	7.37:g.107053006C>T	ENSP00000334703:p.Ala235Thr					COG5_uc003vec.2_Missense_Mutation_p.A235T|COG5_uc003vee.2_Missense_Mutation_p.A235T	p.A235T	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			7	1228	-			235					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.703G>A	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400600	0.83120	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.31769	1.48;1.48;1.48	4.6	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.49745	0.1575	M	0.76574	2.34	0.58432	D	0.999995	D;D	0.76494	0.979;0.999	P;D	0.67382	0.639;0.951	T	0.48468	-0.9033	10	0.16896	T	0.51	-11.656	13.113	0.59285	0.0:0.9215:0.0:0.0785	.	235;235	Q9UP83;Q9UP83-2	COG5_HUMAN;.	T	235	ENSP00000334703:A235T;ENSP00000297135:A235T;ENSP00000377228:A235T	ENSP00000297135:A235T	A	-	1	0	COG5	106840242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.192000	0.77771	1.053000	0.40415	0.655000	0.94253	GCC		0.328	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			18	51	0	0	0	0	18	51				
WNT16	51384	broad.mit.edu	37	7	120979112	120979112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:120979112G>C	ENST00000222462.2	+	4	1101	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	WNT16_ENST00000361301.2_Missense_Mutation_p.E261Q	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	271					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GCGCAGGAGAGAAAAAGATCA	0.368																																						uc003vjw.2		NA																	0				lung(2)|ovary(2)|large_intestine(1)	5						c.(811-813)GAA>CAA		wingless-type MMTV integration site family,							93.0	93.0	93.0					7																	120979112		2203	4300	6503	SO:0001583	missense	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120979112G>C	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.811G>C	7.37:g.120979112G>C	ENSP00000222462:p.Glu271Gln					WNT16_uc003vjv.2_Missense_Mutation_p.E261Q|WNT16_uc010lkl.2_Missense_Mutation_p.E55Q	p.E271Q	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN			4	1068	+	all_neural(327;0.117)		271					Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	ENST00000222462.2	37	c.811G>C	CCDS5781.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642119	0.29157	.	.	ENSG00000002745	ENST00000361301;ENST00000222462	T;T	0.76060	-0.99;-0.99	5.51	5.51	0.81932	.	0.564598	0.21289	N	0.077020	T	0.67683	0.2919	L	0.31065	0.9	0.47341	D	0.999399	B;B	0.29136	0.234;0.234	B;B	0.29598	0.104;0.104	T	0.64424	-0.6411	10	0.44086	T	0.13	.	19.7796	0.96412	0.0:0.0:1.0:0.0	.	271;261	Q9UBV4;E9PH60	WNT16_HUMAN;.	Q	261;271	ENSP00000355065:E261Q;ENSP00000222462:E271Q	ENSP00000222462:E271Q	E	+	1	0	WNT16	120766348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.956000	0.56722	2.756000	0.94617	0.655000	0.94253	GAA		0.368	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		6	24	0	0	0	0	6	24				
PRKAG2	51422	broad.mit.edu	37	7	151261269	151261269	+	Silent	SNP	C	C	T	rs367768776		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:151261269C>T	ENST00000287878.4	-	14	1983	c.1479G>A	c.(1477-1479)acG>acA	p.T493T	PRKAG2_ENST00000492843.1_Silent_p.T369T|PRKAG2_ENST00000418337.2_Silent_p.T252T|PRKAG2_ENST00000433631.2_Silent_p.T368T|PRKAG2_ENST00000392801.2_Silent_p.T449T	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	493					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CCTGGGTCACCGTGATATCTA	0.398																																						uc003wkk.2		NA																	0				breast(1)|kidney(1)	2						c.(1477-1479)ACG>ACA		AMP-activated protein kinase gamma2 subunit		C	,,	1,4405		0,1,2202	199.0	180.0	187.0		1347,1479,756	-11.5	0.2	7		187	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PRKAG2	NM_001040633.1,NM_016203.3,NM_024429.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	449/526,493/570,252/329	151261269	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151261269C>T	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1479G>A	7.37:g.151261269C>T						PRKAG2_uc003wki.2_Silent_p.T252T|PRKAG2_uc011kvl.1_Silent_p.T368T|PRKAG2_uc003wkj.2_Silent_p.T449T|PRKAG2_uc003wkl.2_Silent_p.T41T	p.T493T	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	14	2090	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	493					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Silent	SNP	ENST00000287878.4	37	c.1479G>A	CCDS5928.1																																																																																				0.398	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		5	91	0	0	0	0	5	91				
BMP1	649	broad.mit.edu	37	8	22019379	22019379	+	5'Flank	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:22019379C>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000522109.1_Missense_Mutation_p.P13L|SFTPC_ENST00000521315.1_Missense_Mutation_p.P13L|SFTPC_ENST00000318561.3_Missense_Mutation_p.P13L|SFTPC_ENST00000520605.1_Missense_Mutation_p.P13L|SFTPC_ENST00000524255.1_Missense_Mutation_p.P13L|SFTPC_ENST00000437090.2_Missense_Mutation_p.P13L	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ATGGAGAGCCCGCCGgtgagt	0.572																																						uc003xax.3		NA																	0					0						c.(37-39)CCG>CTG		surfactant protein C precursor							138.0	162.0	154.0					8																	22019379		2156	4261	6417	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22019379C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22019379C>T	Exception_encountered					SFTPC_uc003xaw.3_Missense_Mutation_p.P62L|SFTPC_uc011kza.1_Missense_Mutation_p.P13L|SFTPC_uc003xaz.2_Missense_Mutation_p.P13L|SFTPC_uc003xay.3_Missense_Mutation_p.P13L	p.P13L	NM_003018	NP_003009	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	1	196	+			13					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.38C>T	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063764	0.55432	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;T;D;T;T;D	0.95447	-3.71;-3.71;-3.71;0.71;-3.71;1.28;0.75;-3.71	4.96	4.96	0.65561	Surfactant protein C, N-terminal propeptide (1);	0.000000	0.48286	D	0.000193	D	0.97012	0.9024	M	0.65975	2.015	0.43018	D	0.994566	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	D	0.97357	0.9967	10	0.87932	D	0	-17.979	13.5656	0.61815	0.0:1.0:0.0:0.0	.	13;13;13;13;13	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	L	13	ENSP00000316152:P13L;ENSP00000430410:P13L;ENSP00000407931:P13L;ENSP00000430266:P13L;ENSP00000429496:P13L;ENSP00000429552:P13L;ENSP00000429619:P13L;ENSP00000428817:P13L	ENSP00000316152:P13L	P	+	2	0	SFTPC	22075324	0.946000	0.32159	0.893000	0.35052	0.274000	0.26718	3.825000	0.55730	2.564000	0.86499	0.655000	0.94253	CCG		0.572	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		13	53	0	0	0	0	13	53				
SLC39A14	23516	broad.mit.edu	37	8	22266000	22266000	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:22266000G>A	ENST00000381237.1	+	3	567	c.448G>A	c.(448-450)Gct>Act	p.A150T	SLC39A14_ENST00000359741.5_Missense_Mutation_p.A150T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A150T|SLC39A14_ENST00000289952.5_Missense_Mutation_p.A150T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	150					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GCGGCCAAGCGCTGTTGAAGG	0.642																																						uc003xbq.3		NA																	0					0						c.(448-450)GCT>ACT		solute carrier family 39 (zinc transporter),							43.0	34.0	37.0					8																	22266000		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22266000G>A	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.448G>A	8.37:g.22266000G>A	ENSP00000370635:p.Ala150Thr					SLC39A14_uc011kzg.1_Missense_Mutation_p.A150T|SLC39A14_uc003xbp.3_Missense_Mutation_p.A150T|SLC39A14_uc011kzh.1_Missense_Mutation_p.A150T	p.A150T	NM_001128431	NP_001121903	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	3	623	+			150			Extracellular (Potential).		A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.448G>A	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399000	0.25291	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952	T;T;T;T	0.65364	-0.14;-0.15;-0.13;-0.13	5.62	-11.2	0.00127	.	0.958892	0.08741	N	0.900528	T	0.37183	0.0994	L	0.51422	1.61	0.09310	N	1	B;B;B	0.11235	0.003;0.002;0.004	B;B;B	0.10450	0.005;0.001;0.001	T	0.34254	-0.9836	10	0.08179	T	0.78	0.2283	0.8243	0.01118	0.303:0.1369:0.1603:0.3999	.	150;150;150	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	T	150	ENSP00000352779:A150T;ENSP00000240095:A150T;ENSP00000370635:A150T;ENSP00000289952:A150T	ENSP00000240095:A150T	A	+	1	0	SLC39A14	22321945	0.000000	0.05858	0.000000	0.03702	0.095000	0.18619	-1.289000	0.02780	-1.897000	0.01101	-1.099000	0.02127	GCT		0.642	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		4	19	0	0	0	0	4	19				
PRKDC	5591	broad.mit.edu	37	8	48798673	48798673	+	Silent	SNP	C	C	T	rs371799969		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:48798673C>T	ENST00000314191.2	-	37	4661	c.4605G>A	c.(4603-4605)gcG>gcA	p.A1535A	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.A1535A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1536	Interaction with C1D.|Leucine-zipper.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGGACAGCACCGCTGGGTTCA	0.527								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(4606-4608)GCG>GCA	NHEJ	protein kinase, DNA-activated, catalytic		C	,	2,3862		0,2,1930	49.0	52.0	51.0		4607,4607	-11.2	0.0	8		51	0,8286		0,0,4143	no	coding-synonymous,coding-synonymous	PRKDC	NM_001081640.1,NM_006904.6	,	0,2,6073	TT,TC,CC		0.0,0.0518,0.0165	,	1536/4098,1536/4129	48798673	2,12148	1932	4143	6075	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48798673C>T		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4605G>A	8.37:g.48798673C>T						PRKDC_uc003xqj.2_Silent_p.A1536A|PRKDC_uc011ldh.1_Intron	p.A1536A	NM_006904	NP_008835	P78527	PRKDC_HUMAN			37	4665	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1536			Interaction with C1D.|Leucine-zipper.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.4608G>A																																																																																					0.527	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		17	23	0	0	0	0	17	23				
XKR4	114786	broad.mit.edu	37	8	56436657	56436657	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:56436657G>C	ENST00000327381.6	+	3	1924	c.1824G>C	c.(1822-1824)gaG>gaC	p.E608D		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	608						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCATGGGAGAGACATGTTT	0.488																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(1822-1824)GAG>GAC		XK, Kell blood group complex subunit-related							119.0	113.0	115.0					8																	56436657		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436657G>C	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1824G>C	8.37:g.56436657G>C	ENSP00000328326:p.Glu608Asp						p.E608D	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1856	+			608					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1824G>C	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	9.340	1.062756	0.19987	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.79033	-1.23	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	N	0.05259	-0.085	0.53688	D	0.999978	P	0.43750	0.816	B	0.35813	0.211	T	0.63804	-0.6554	10	0.02654	T	1	-20.3702	19.516	0.95165	0.0:0.0:1.0:0.0	.	608	Q5GH76	XKR4_HUMAN	D	608	ENSP00000328326:E608D	ENSP00000328326:E608D	E	+	3	2	XKR4	56599211	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.651000	0.61447	2.623000	0.88846	0.655000	0.94253	GAG		0.488	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		7	28	0	0	0	0	7	28				
CHD7	55636	broad.mit.edu	37	8	61765187	61765187	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:61765187G>A	ENST00000423902.2	+	30	6504	c.6025G>A	c.(6025-6027)Gag>Aag	p.E2009K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2009					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAATCTGATGAGAGTTTGGA	0.438																																						uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6025-6027)GAG>AAG		chromodomain helicase DNA binding protein 7							65.0	61.0	62.0					8																	61765187		1843	4094	5937	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765187G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6025G>A	8.37:g.61765187G>A	ENSP00000392028:p.Glu2009Lys						p.E2009K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		30	6502	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2009					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6025G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	36	5.732412	0.96856	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90504	-2.68	5.48	5.48	0.80851	SANT domain, DNA binding (1);	0.000000	0.85682	D	0.000000	D	0.93710	0.7990	M	0.73430	2.235	0.80722	D	1	P	0.51351	0.944	P	0.53006	0.715	D	0.94154	0.7408	10	0.72032	D	0.01	-25.877	19.3552	0.94410	0.0:0.0:1.0:0.0	.	2009	Q9P2D1	CHD7_HUMAN	K	2009	ENSP00000392028:E2009K	ENSP00000307304:E2009K	E	+	1	0	CHD7	61927741	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.583000	0.87209	0.655000	0.94253	GAG		0.438	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		9	22	0	0	0	0	9	22				
KIFC2	90990	broad.mit.edu	37	8	145698053	145698053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr8:145698053C>T	ENST00000301332.2	+	16	2202	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	KIFC2_ENST00000531423.1_3'UTR|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	609	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGACGCTGCGCGCGGCGTC	0.721																																						uc003zcz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1825-1827)CGC>TGC		kinesin family member C2							11.0	14.0	13.0					8																	145698053		2170	4233	6403	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145698053C>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1825C>T	8.37:g.145698053C>T	ENSP00000301332:p.Arg609Cys					KIFC2_uc003zda.2_5'UTR	p.R609C	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		16	1890	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		609			Kinesin-motor.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.1825C>T	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280087	0.59758	.	.	ENSG00000167702	ENST00000301332	T	0.75704	-0.96	5.02	-0.912	0.10504	Kinesin, motor domain (4);	0.236201	0.22093	N	0.064725	T	0.72479	0.3465	L	0.42245	1.32	0.09310	N	0.999993	D	0.71674	0.998	D	0.65773	0.938	T	0.61559	-0.7038	10	0.72032	D	0.01	-0.9193	1.6185	0.02708	0.1964:0.4385:0.1111:0.254	.	609	Q96AC6	KIFC2_HUMAN	C	609	ENSP00000301332:R609C	ENSP00000301332:R609C	R	+	1	0	KIFC2	145668861	0.025000	0.19082	0.007000	0.13788	0.714000	0.41099	0.485000	0.22324	-0.066000	0.12998	0.591000	0.81541	CGC		0.721	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		4	27	0	0	0	0	4	27				
PHF2	5253	broad.mit.edu	37	9	96435940	96435940	+	Missense_Mutation	SNP	G	G	A	rs145764244	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:96435940G>A	ENST00000359246.4	+	18	2789	c.2422G>A	c.(2422-2424)Gac>Aac	p.D808N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	808					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCAGGCCTCCGACTCCTGCCT	0.667																																						uc004aub.2		NA																	0				ovary(1)	1						c.(2422-2424)GAC>AAC		PHD finger protein 2		G	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	32.0	35.0	34.0		2422	4.9	1.0	9	dbSNP_134	34	12,8588	8.4+/-32.0	0,12,4288	yes	missense	PHF2	NM_005392.3	23	0,15,6488	AA,AG,GG		0.1395,0.0681,0.1153	possibly-damaging	808/1097	96435940	15,12991	2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96435940G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2422G>A	9.37:g.96435940G>A	ENSP00000352185:p.Asp808Asn					PHF2_uc011lug.1_Missense_Mutation_p.D691N|PHF2_uc004auc.2_Missense_Mutation_p.D228N	p.D808N	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	18	2569	+		Myeloproliferative disorder(762;0.0255)	808					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.2422G>A	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960432	0.92791	6.81E-4	0.001395	ENSG00000197724	ENST00000359246	T	0.18960	2.18	4.93	4.93	0.64822	.	0.230215	0.43747	D	0.000531	T	0.34658	0.0905	L	0.43923	1.385	0.80722	D	1	D;D	0.76494	0.999;0.976	P;P	0.60236	0.871;0.51	T	0.02533	-1.1145	10	0.23302	T	0.38	-33.0975	18.1427	0.89644	0.0:0.0:1.0:0.0	.	227;808	Q8N359;O75151	.;PHF2_HUMAN	N	808	ENSP00000352185:D808N	ENSP00000352185:D808N	D	+	1	0	PHF2	95475761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.529000	0.81952	2.265000	0.75225	0.561000	0.74099	GAC		0.667	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		8	55	0	0	0	0	8	55				
GSN	2934	broad.mit.edu	37	9	124073041	124073041	+	Missense_Mutation	SNP	G	G	A	rs144099356		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:124073041G>A	ENST00000373818.4	+	4	653	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	GSN_ENST00000545652.1_Missense_Mutation_p.R152Q|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373807.1_5'Flank|GSN_ENST00000341272.2_Missense_Mutation_p.R144Q|GSN_ENST00000394353.2_Missense_Mutation_p.R155Q|GSN_ENST00000373808.2_Missense_Mutation_p.R144Q|GSN_ENST00000412819.1_Missense_Mutation_p.R144Q|GSN_ENST00000373823.3_Missense_Mutation_p.R144Q|GSN_ENST00000436847.1_Missense_Mutation_p.R155Q|GSN_ENST00000449733.1_Missense_Mutation_p.R144Q	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	195	Polyphosphoinositide binding. {ECO:0000250}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GTCAAAGGGCGGCGTGTGGTC	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20589	0.001		0.0	False		,,,				2504	0.0					uc004blf.1		NA																	0				breast(2)|ovary(1)	3						c.(583-585)CGG>CAG		gelsolin isoform a precursor							209.0	147.0	168.0					9																	124073041		2203	4300	6503	SO:0001583	missense	2934				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding	g.chr9:124073041G>A	X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.584G>A	9.37:g.124073041G>A	ENSP00000362924:p.Arg195Gln					GSN_uc004bld.1_Missense_Mutation_p.R144Q|GSN_uc010mvq.1_Missense_Mutation_p.R155Q|GSN_uc010mvr.1_Missense_Mutation_p.R155Q|GSN_uc010mvu.1_Missense_Mutation_p.R144Q|GSN_uc010mvt.1_Missense_Mutation_p.R144Q|GSN_uc010mvs.1_Missense_Mutation_p.R144Q|GSN_uc004ble.1_Missense_Mutation_p.R144Q|GSN_uc010mvv.1_Missense_Mutation_p.R144Q|GSN_uc011lyh.1_Missense_Mutation_p.R161Q|GSN_uc011lyi.1_Missense_Mutation_p.R144Q|GSN_uc011lyj.1_Missense_Mutation_p.R168Q|GSN_uc004blg.1_5'Flank	p.R195Q	NM_000177	NP_000168	P06396	GELS_HUMAN			4	645	+			195			Polyphosphoinositide binding (By similarity).		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	ENST00000373818.4	37	c.584G>A	CCDS6828.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.7	4.857428	0.91433	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.2	3.34	0.38264	.	0.157360	0.56097	D	0.000023	T	0.33585	0.0868	M	0.85041	2.73	0.58432	D	0.999993	D;P;B;P	0.63046	0.992;0.956;0.072;0.651	P;B;B;B	0.51582	0.674;0.3;0.011;0.061	T	0.26155	-1.0111	10	0.72032	D	0.01	-10.6032	11.2139	0.48815	0.1404:0.0:0.8596:0.0	.	168;152;155;195	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	Q	144;144;155;155;155;144;144;144;144;128;118;152;195	ENSP00000362929:R144Q;ENSP00000404226:R144Q;ENSP00000410657:R155Q;ENSP00000411293:R155Q;ENSP00000377882:R155Q;ENSP00000409358:R144Q;ENSP00000416586:R144Q;ENSP00000340888:R144Q;ENSP00000362914:R144Q;ENSP00000445823:R152Q;ENSP00000362924:R195Q	ENSP00000340888:R144Q	R	+	2	0	GSN	123112862	1.000000	0.71417	0.996000	0.52242	0.911000	0.54048	6.756000	0.74919	0.570000	0.29347	0.561000	0.74099	CGG		0.587	GSN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053861.1	NM_000177		8	47	0	0	0	0	8	47				
FCN2	2220	broad.mit.edu	37	9	137779204	137779204	+	Silent	SNP	G	G	A	rs150154280	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:137779204G>A	ENST00000291744.6	+	8	895	c.885G>A	c.(883-885)tcG>tcA	p.S295S	FCN2_ENST00000350339.2_Silent_p.S257S	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	295	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		ACTGGAAGTCGGGGAAAGGAT	0.537																																						uc004cfg.1		NA																	0				large_intestine(1)	1						c.(883-885)TCG>TCA		ficolin 2 isoform a precursor		G	,	1,4405		0,1,2202	62.0	62.0	62.0		885,771	-8.1	0.0	9	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FCN2	NM_004108.2,NM_015837.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	295/314,257/276	137779204	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137779204G>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.885G>A	9.37:g.137779204G>A						FCN2_uc004cfh.1_Silent_p.S257S	p.S295S	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	8	895	+		Myeloproliferative disorder(178;0.0333)	295			Fibrinogen C-terminal.		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.885G>A	CCDS6983.1																																																																																				0.537	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		45	16	0	0	0	0	45	16				
PPP1R26	9858	broad.mit.edu	37	9	138376726	138376726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr9:138376726G>C	ENST00000356818.2	+	4	919	c.370G>C	c.(370-372)Gac>Cac	p.D124H	PPP1R26_ENST00000605286.1_Missense_Mutation_p.D124H|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.D124H|PPP1R26_ENST00000604351.1_Missense_Mutation_p.D124H|PPP1R26_ENST00000401470.3_Missense_Mutation_p.D124H	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	124					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCTAGATTCAGACAGTGATGA	0.612																																						uc004cfr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(370-372)GAC>CAC		1A6/DRIM (down-regulated in metastasis)							59.0	69.0	66.0					9																	138376726		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138376726G>C	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.370G>C	9.37:g.138376726G>C	ENSP00000349274:p.Asp124His						p.D124H	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	919	+			124					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.370G>C	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531753	0.64972	.	.	ENSG00000196422	ENST00000356818	T	0.22945	1.93	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.53546	0.1803	M	0.74258	2.255	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.57418	-0.7815	10	0.87932	D	0	-35.1943	17.9958	0.89184	0.0:0.0:1.0:0.0	.	124	Q5T8A7	PPR26_HUMAN	H	124	ENSP00000349274:D124H	ENSP00000349274:D124H	D	+	1	0	KIAA0649	137516547	1.000000	0.71417	0.846000	0.33378	0.173000	0.22820	6.964000	0.76061	2.476000	0.83614	0.561000	0.74099	GAC		0.612	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		71	49	0	0	0	0	71	49				
SHROOM2	357	broad.mit.edu	37	X	9863269	9863269	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:9863269G>A	ENST00000380913.3	+	4	1411	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	441					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTCTGTGCTGACAGCCTTGG	0.652																																						uc004csu.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1321-1323)GAC>AAC		apical protein of Xenopus-like							39.0	40.0	40.0					X																	9863269		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9863269G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1321G>A	X.37:g.9863269G>A	ENSP00000370299:p.Asp441Asn						p.D441N	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	1411	+		Hepatocellular(5;0.000888)	441					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.1321G>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	G	6.979	0.550663	0.13374	.	.	ENSG00000146950	ENST00000380913	T	0.13657	2.57	4.17	-4.05	0.03998	.	5.840820	0.00166	N	0.000002	T	0.08537	0.0212	N	0.22421	0.69	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.27020	-1.0086	10	0.17832	T	0.49	1.9566	6.1381	0.20245	0.5472:0.2588:0.1939:0.0	.	441	Q13796	SHRM2_HUMAN	N	441	ENSP00000370299:D441N	ENSP00000370299:D441N	D	+	1	0	SHROOM2	9823269	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.081000	0.11321	-0.685000	0.05177	-0.312000	0.09012	GAC		0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		18	16	0	0	0	0	18	16				
SCML2	10389	broad.mit.edu	37	X	18283829	18283829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:18283829A>G	ENST00000251900.4	-	8	983	c.824T>C	c.(823-825)tTa>tCa	p.L275S	SCML2_ENST00000398048.3_Missense_Mutation_p.L11S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	275					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGTGTTGGTAATATTAGAGT	0.418																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2		NA																	0					0						c.(823-825)TTA>TCA		sex comb on midleg-like 2							149.0	135.0	140.0					X																	18283829		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18283829A>G	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.824T>C	X.37:g.18283829A>G	ENSP00000251900:p.Leu275Ser					SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.L275S|SCML2_uc011miz.1_Missense_Mutation_p.L209S|SCML2_uc010nfc.2_Missense_Mutation_p.L11S	p.L275S	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			8	981	-	Hepatocellular(33;0.183)		275					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.824T>C	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.262422	0.00262	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.51325	2.28;0.71	4.92	-0.678	0.11353	.	2.080600	0.02510	N	0.091473	T	0.39733	0.1089	L	0.57536	1.79	0.09310	N	1	B;B;B	0.16396	0.006;0.004;0.017	B;B;B	0.13407	0.003;0.003;0.009	T	0.06899	-1.0801	10	0.09338	T	0.73	.	4.6574	0.12624	0.5245:0.158:0.3176:0.0	.	243;11;275	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	S	275;11;243	ENSP00000251900:L275S;ENSP00000381126:L11S	ENSP00000251900:L275S	L	-	2	0	SCML2	18193750	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.107000	0.10873	-0.142000	0.11354	-0.451000	0.05528	TTA		0.418	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		13	27	0	0	0	0	13	27				
CXorf58	254158	broad.mit.edu	37	X	23928433	23928433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:23928433C>T	ENST00000379211.3	+	2	563	c.14C>T	c.(13-15)tCa>tTa	p.S5L	APOO_ENST00000379220.3_5'Flank|APOO_ENST00000379226.4_5'Flank	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	5										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AATCGTTCCTCAAATGTACCA	0.348																																						uc004daz.1		NA																	0					0						c.(13-15)TCA>TTA		hypothetical protein LOC254158							120.0	92.0	102.0					X																	23928433		2203	4300	6503	SO:0001583	missense	254158							g.chrX:23928433C>T	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.14C>T	X.37:g.23928433C>T	ENSP00000368511:p.Ser5Leu					APOO_uc004dax.2_5'Flank|APOO_uc004day.3_5'Flank|CXorf58_uc011mju.1_Missense_Mutation_p.S5L	p.S5L	NM_152761	NP_689974	Q96LI9	CX058_HUMAN			2	358	+			5						Missense_Mutation	SNP	ENST00000379211.3	37	c.14C>T	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	C	3.094	-0.186216	0.06340	.	.	ENSG00000165182	ENST00000379211	T	0.30448	1.53	3.52	-1.31	0.09230	.	2.151820	0.02620	N	0.103129	T	0.19644	0.0472	N	0.14661	0.345	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.12156	0.007;0.007	T	0.23048	-1.0199	10	0.40728	T	0.16	2.758	7.4916	0.27464	0.0:0.4071:0.0:0.5929	.	5;5	B7ZLS7;Q96LI9	.;CX058_HUMAN	L	5	ENSP00000368511:S5L	ENSP00000368511:S5L	S	+	2	0	CXorf58	23838354	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.003000	0.12901	-0.506000	0.06558	-0.192000	0.12808	TCA		0.348	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		7	10	0	0	0	0	7	10				
BRS3	680	broad.mit.edu	37	X	135572633	135572633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:135572633C>T	ENST00000370648.3	+	2	1004	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	259					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CAAAGCCATGCCCGTAAGCAG	0.388																																						uc004ezv.1		NA																	0				ovary(1)	1						c.(775-777)GCC>GTC		bombesin-like receptor 3							56.0	51.0	52.0					X																	135572633		2202	4297	6499	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135572633C>T		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.776C>T	X.37:g.135572633C>T	ENSP00000359682:p.Ala259Val						p.A259V	NM_001727	NP_001718	P32247	BRS3_HUMAN			2	925	+	Acute lymphoblastic leukemia(192;0.000127)		259			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370648.3	37	c.776C>T	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	2.639	-0.284525	0.05605	.	.	ENSG00000102239	ENST00000370648	T	0.38240	1.15	5.45	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.077091	0.53938	N	0.000051	T	0.25419	0.0618	N	0.20881	0.62	0.37881	D	0.930393	B	0.09022	0.002	B	0.15052	0.012	T	0.07539	-1.0767	10	0.24483	T	0.36	-7.1312	13.4059	0.60913	0.0:0.9224:0.0:0.0776	.	259	P32247	BRS3_HUMAN	V	259	ENSP00000359682:A259V	ENSP00000359682:A259V	A	+	2	0	BRS3	135400299	0.831000	0.29352	1.000000	0.80357	0.703000	0.40648	1.136000	0.31467	1.053000	0.40415	0.600000	0.82982	GCC		0.388	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		3	42	0	0	0	0	3	42				
AFF2	2334	broad.mit.edu	37	X	147924495	147924495	+	Silent	SNP	G	G	A	rs149177157	byFrequency	TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chrX:147924495G>A	ENST00000370460.2	+	6	1658	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	AFF2_ENST00000370457.5_Silent_p.S360S|AFF2_ENST00000370458.1_Silent_p.S360S|AFF2_ENST00000286437.5_Silent_p.S34S|AFF2_ENST00000342251.3_Silent_p.S360S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	393					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TATAGGAATCGCAGCATCTGA	0.343													g|||	1	0.000264901	0.0	0.0	3775	,	,		12911	0.001		0.0	False		,,,				2504	0.0					uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1177-1179)TCG>TCA		fragile X mental retardation 2		G	,,,,,	3,3832		0,3,1629,571	94.0	88.0	90.0		1080,1167,1092,1080,102,1179	-1.6	0.9	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	AFF2	NM_001169122.1,NM_001169123.1,NM_001169124.1,NM_001169125.1,NM_001170628.1,NM_002025.3	,,,,,	0,3,4057,2443	AA,AG,GG,G		0.0,0.0782,0.0284	,,,,,	360/1277,389/1302,364/1277,360/1273,34/953,393/1312	147924495	3,10560	2203	4300	6503	SO:0001819	synonymous_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147924495G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1179G>A	X.37:g.147924495G>A						AFF2_uc004fco.2_Silent_p.S360S|AFF2_uc004fcq.2_Silent_p.S389S|AFF2_uc004fcr.2_Silent_p.S360S|AFF2_uc011mxb.1_Silent_p.S364S|AFF2_uc004fcs.2_Silent_p.S360S|AFF2_uc011mxc.1_Silent_p.S34S	p.S393S	NM_002025	NP_002016	P51816	AFF2_HUMAN			6	1658	+	Acute lymphoblastic leukemia(192;6.56e-05)		393					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.1179G>A	CCDS14684.1																																																																																				0.343	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		41	23	0	0	0	0	41	23				
TARBP1	6894	broad.mit.edu	37	1	234565343	234565358	+	Frame_Shift_Del	DEL	GAGAGGCACACCCATT	GAGAGGCACACCCATT	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr1:234565343_234565358delGAGAGGCACACCCATT	ENST00000040877.1	-	16	2674_2689	c.2675_2690delAATGGGTGTGCCTCTC	c.(2674-2691)caatgggtgtgcctctctfs	p.QWVCLS892fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	892					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.W893*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CAACAGGAAAGAGAGGCACACCCATTGATCATGAAT	0.398																																						uc001hwd.2		NA																	1	Substitution - Nonsense(1)	p.W893*(1)	ovary(1)	ovary(2)|skin(1)	3						c.(2674-2691)CAATGGGTGTGCCTCTCTfs		TAR RNA binding protein 1																																				SO:0001589	frameshift_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234565343_234565358delGAGAGGCACACCCATT		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2675_2690delAATGGGTGTGCCTCTC	1.37:g.234565343_234565358delGAGAGGCACACCCATT	ENSP00000040877:p.Gln892fs						p.Q892fs	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		16	2675_2690	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	892_897					Q9H581	Frame_Shift_Del	DEL	ENST00000040877.1	37	c.2675_2690delAATGGGTGTGCCTCTC	CCDS1601.1																																																																																				0.398	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		7	73	NA	NA	NA	NA	7	73	---	---	---	---
PRICKLE1	144165	broad.mit.edu	37	12	42853994	42854008	+	In_Frame_Del	DEL	TGTACAGCCGCAGTC	TGTACAGCCGCAGTC	-	rs369790443		TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr12:42853994_42854008delTGTACAGCCGCAGTC	ENST00000455697.1	-	8	2384_2398	c.2099_2113delGACTGCGGCTGTACA	c.(2098-2115)agactgcggctgtacacc>acc	p.RLRLY700del	RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_In_Frame_Del_p.RLRLY700del|PRICKLE1_ENST00000548696.1_In_Frame_Del_p.RLRLY700del|PRICKLE1_ENST00000445766.2_In_Frame_Del_p.RLRLY700del|PRICKLE1_ENST00000552240.1_In_Frame_Del_p.RLRLY700del	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	700					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTATCGGGGGTGTACAGCCGCAGTCTGTCCTTGGG	0.502																																						uc010skv.1		NA																	0				ovary(3)|skin(1)	4						c.(2098-2115)AGACTGCGGCTGTACACC>ACC		prickle homolog 1																																				SO:0001651	inframe_deletion	144165				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	g.chr12:42853994_42854008delTGTACAGCCGCAGTC	AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.2099_2113delGACTGCGGCTGTACA	12.37:g.42853994_42854008delTGTACAGCCGCAGTC	ENSP00000401060:p.Arg700_Tyr704del					PRICKLE1_uc001rnl.2_In_Frame_Del_p.RLRLY700del|PRICKLE1_uc010skw.1_In_Frame_Del_p.RLRLY700del|PRICKLE1_uc001rnm.2_In_Frame_Del_p.RLRLY700del|PRICKLE1_uc001rnk.1_5'Flank	p.RLRLY700del	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN		GBM - Glioblastoma multiforme(48;0.2)	8	2386_2400	-	all_cancers(12;4.25e-05)|Breast(8;0.176)		700_704					Q14C83|Q71QF8|Q96N00	In_Frame_Del	DEL	ENST00000455697.1	37	c.2099_2113delGACTGCGGCTGTACA	CCDS8742.1																																																																																				0.502	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404069.1			9	88	NA	NA	NA	NA	9	88	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70952161	70952162	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr16:70952161_70952162insT	ENST00000393567.2	-	47	8106_8107	c.7956_7957insA	c.(7954-7959)aaagaafs	p.E2653fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2653					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTTCCATTTCTTTTTTTTCAT	0.45																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(7951-7956)AAAGAAfs		hydrocephalus inducing isoform a																																				SO:0001589	frameshift_variant	54768							g.chr16:70952161_70952162insT	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7957dupA	16.37:g.70952169_70952169dupT	ENSP00000377197:p.Glu2653fs						p.K2651fs	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			47	8081_8082	-		Ovarian(137;0.0654)	2652_2653					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Ins	INS	ENST00000393567.2	37	c.7953_7954insA	CCDS59269.1																																																																																				0.450	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			2	4	NA	NA	NA	NA	2	4	---	---	---	---
FAM53C	51307	broad.mit.edu	37	5	137680780	137680781	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr5:137680780_137680781insG	ENST00000239906.5	+	4	831_832	c.403_404insG	c.(403-405)cggfs	p.R135fs	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000434981.2_Frame_Shift_Ins_p.R135fs|FAM53C_ENST00000513056.1_Intron|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	135										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCCGGTGTGGCGGCCCGCCCCC	0.683																																						uc003lcv.2		NA																	0				ovary(1)	1						c.(403-405)CGGfs		hypothetical protein LOC51307																																				SO:0001589	frameshift_variant	51307							g.chr5:137680780_137680781insG	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.405dupG	5.37:g.137680782_137680782dupG	ENSP00000239906:p.Arg135fs					FAM53C_uc003lcw.2_Frame_Shift_Ins_p.R135fs|FAM53C_uc011cyq.1_Intron|FAM53C_uc011cyr.1_Intron	p.R135fs	NM_001135647	NP_001129119	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	873_874	+			135					B2RDJ5|D3DQB9	Frame_Shift_Ins	INS	ENST00000239906.5	37	c.403_404insG	CCDS4204.1																																																																																				0.683	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		8	118	NA	NA	NA	NA	8	118	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						uc003nyv.2		NA																	0				skin(4)	4						c.(52-54)CGGfs		serine/threonine kinase 19 isoform 2																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	p.R18fs	NM_032454	NP_115830	P49842	STK19_HUMAN			1	180_181	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	155	NA	NA	NA	NA	7	155	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5401259	5401259	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5970-01A-11D-1683-08	TCGA-CV-5970-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a52dc15f-d06d-46ed-a73e-aa004a2a736a	f32b53d5-28b2-4d09-bff7-af5bca3d3e33	g.chr7:5401259delG	ENST00000430969.1	-	14	4975	c.4627delC	c.(4627-4629)cgcfs	p.R1543fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.R1543fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCTCTCTTGCGGGGGGGCGAC	0.692																																						uc003soi.3		NA																	0					0						c.(4627-4629)CGCfs		trinucleotide repeat containing 18				32,3150		10,12,1569						3.9	1.0			15	35,6719		7,21,3349	no	frameshift	TNRC18	NM_001080495.2		17,33,4918	A1A1,A1R,RR		0.5182,1.0057,0.6743				67,9869				SO:0001589	frameshift_variant	84629						DNA binding	g.chr7:5401259delG	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4627delC	7.37:g.5401259delG	ENSP00000395538:p.Arg1543fs						p.R1543fs	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	14	4976	-		Ovarian(82;0.142)	1543					A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	ENST00000430969.1	37	c.4627delC	CCDS47534.1																																																																																				0.692	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4	NA	NA	NA	NA	2	4	---	---	---	---
