#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
CPTP	80772	broad.mit.edu	37	1	1262843	1262843	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:1262843G>A	ENST00000343938.4	+	3	756	c.345G>A	c.(343-345)ctG>ctA	p.L115L	CPSF3L_ENST00000435064.1_5'Flank|GLTPD1_ENST00000464957.1_3'UTR|CPSF3L_ENST00000545578.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000411962.1_5'Flank	NM_001029885.1	NP_001025056.1	Q5TA50	CPTP_HUMAN		115					ceramide 1-phosphate transport (GO:1902389)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ceramide 1-phosphate binding (GO:1902387)|ceramide 1-phosphate transporter activity (GO:1902388)|glycolipid binding (GO:0051861)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGCGCCCTGCACTGGCTGC	0.726																																						uc001aeo.2		NaN																	0					0						c.(343-345)CTG>CTA		glycolipid transfer protein domain containing 1							11.0	9.0	9.0					1																	1262843		2143	4170	6313	SO:0001819	synonymous_variant	80772					cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr1:1262843G>A																												ENST00000343938.4:c.345G>A	1.37:g.1262843G>A						CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank	p.L115L	NM_001029885	NP_001025056	Q5TA50	GLTD1_HUMAN		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	760	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	115					Q4G0E6|Q7L5A4	Silent	SNP	ENST00000343938.4	37	c.345G>A	CCDS30555.1																																																																																				0.726	GLTPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008742.1				3	10	0	0	0	0.004672	0	3	10		
H6PD	9563	broad.mit.edu	37	1	9323690	9323690	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:9323690G>A	ENST00000377403.2	+	5	1440	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	H6PD_ENST00000602477.1_Missense_Mutation_p.V391M	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	380	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCTGCTGTGTGCAGAGCGA	0.642																																						uc001apt.2		NaN																	0					0						c.(1138-1140)GTG>ATG		hexose-6-phosphate dehydrogenase precursor	NADH(DB00157)						71.0	74.0	73.0					1																	9323690		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9323690G>A	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1138G>A	1.37:g.9323690G>A	ENSP00000366620:p.Val380Met						p.V380M	NM_004285	NP_004276	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	5	1411	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	380			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.1138G>A	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	6.144	0.394806	0.11638	.	.	ENSG00000049239	ENST00000377403	D	0.99832	-7.02	5.57	3.66	0.41972	Glucose-6-phosphate dehydrogenase, C-terminal (1);	1.072110	0.06982	N	0.820102	D	0.99115	0.9695	L	0.32530	0.975	0.09310	N	1	P	0.35155	0.487	B	0.41332	0.354	D	0.99992	1.4653	10	0.54805	T	0.06	-10.8081	5.5319	0.16989	0.2318:0.255:0.5132:0.0	.	380	O95479	G6PE_HUMAN	M	380	ENSP00000366620:V380M	ENSP00000366620:V380M	V	+	1	0	H6PD	9246277	0.000000	0.05858	0.005000	0.12908	0.123000	0.20343	0.252000	0.18278	1.324000	0.45282	0.561000	0.74099	GTG		0.642	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2		NM_004285		7	74	0	0	0	0.001984	0	7	74		
MRTO4	51154	broad.mit.edu	37	1	19584361	19584361	+	Nonsense_Mutation	SNP	C	C	T	rs572964438		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:19584361C>T	ENST00000330263.4	+	6	673	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	126					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTACGCCCGAGCTGGTAA	0.587																																					GBM(192;2418 3032 7540 48714)	uc001bbs.2		NaN																	0					0						c.(376-378)CGA>TGA		mRNA turnover 4 homolog							83.0	85.0	85.0					1																	19584361		2203	4300	6503	SO:0001587	stop_gained	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19584361C>T	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.376C>T	1.37:g.19584361C>T	ENSP00000364320:p.Arg126*						p.R126*	NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	631	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	126					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Nonsense_Mutation	SNP	ENST00000330263.4	37	c.376C>T	CCDS191.1	.	.	.	.	.	.	.	.	.	.	C	38	6.732733	0.97796	.	.	ENSG00000053372	ENST00000330263	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5878	13.8063	0.63233	0.1531:0.8468:0.0:0.0	.	.	.	.	X	126	.	ENSP00000364320:R126X	R	+	1	2	MRTO4	19456948	0.997000	0.39634	0.999000	0.59377	0.648000	0.38561	3.476000	0.53143	2.804000	0.96469	0.655000	0.94253	CGA		0.587	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2		NM_016183		19	99	0	0	0	0.007413	0	19	99		
IFNLR1	163702	broad.mit.edu	37	1	24483775	24483775	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:24483775G>A	ENST00000327535.1	-	7	1420	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.Q441*	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	470					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GTCAGTGTCTGAAGAGAAACT	0.612																																						uc001bis.2		NaN																	0					0						c.(1408-1410)CAG>TAG		interleukin 28 receptor, alpha isoform 1							55.0	63.0	61.0					1																	24483775		2203	4300	6503	SO:0001587	stop_gained	163702				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity	g.chr1:24483775G>A	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1408C>T	1.37:g.24483775G>A	ENSP00000327824:p.Gln470*					IL28RA_uc001bir.2_Nonsense_Mutation_p.Q441*|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Nonsense_Mutation_p.Q386*	p.Q470*	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)	7	1421	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	470			Cytoplasmic (Potential).		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Nonsense_Mutation	SNP	ENST00000327535.1	37	c.1408C>T	CCDS248.1	.	.	.	.	.	.	.	.	.	.	G	9.105	1.005180	0.19199	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.59	-1.64	0.08318	.	2.018940	0.01801	N	0.032881	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	0.4537	3.2413	0.06782	0.0796:0.2429:0.2659:0.4115	.	.	.	.	X	470;441	.	ENSP00000327824:Q470X	Q	-	1	0	IL28RA	24356362	0.000000	0.05858	0.039000	0.18376	0.015000	0.08874	-0.345000	0.07770	0.058000	0.16222	-0.258000	0.10820	CAG		0.612	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1		NM_170743		13	76	0	0	0	0.013537	0	13	76		
PPP1R8	5511	broad.mit.edu	37	1	28176864	28176864	+	Silent	SNP	C	C	G	rs144281839	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:28176864C>G	ENST00000311772.5	+	7	1021	c.963C>G	c.(961-963)gtC>gtG	p.V321V	PPP1R8_ENST00000373931.4_Silent_p.V179V|PPP1R8_ENST00000236412.7_Silent_p.V97V|PPP1R8_ENST00000486634.1_3'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	321	Interaction with EED.				cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTGCAGTCTATAACCCTG	0.488																																						uc001bov.1		NaN																	0					0						c.(961-963)GTC>GTG		protein phosphatase 1 regulatory inhibitor							102.0	99.0	100.0					1																	28176864		2203	4300	6503	SO:0001819	synonymous_variant	5511				mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding	g.chr1:28176864C>G	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.963C>G	1.37:g.28176864C>G						PPP1R8_uc001bow.1_Silent_p.V179V|PPP1R8_uc001box.1_Silent_p.V97V|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	p.V321V	NM_014110	NP_054829	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	7	1017	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	321			Interaction with EED.		Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Silent	SNP	ENST00000311772.5	37	c.963C>G	CCDS311.1																																																																																				0.488	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1		NM_014110		9	85	0	0	0	0.004482	0	9	85		
TINAGL1	64129	broad.mit.edu	37	1	32051353	32051353	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32051353G>A	ENST00000271064.7	+	10	1169		c.e10-1		TINAGL1_ENST00000457433.2_Splice_Site|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1						endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TCTGCCCACAGCCCTCATGGA	0.597																																						uc001bta.2		NaN																	0					0						c.e10-1		tubulointerstitial nephritis antigen-like 1							47.0	41.0	43.0					1																	32051353		2203	4300	6503	SO:0001630	splice_region_variant	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32051353G>A	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.1094-1G>A	1.37:g.32051353G>A						TINAGL1_uc001bsz.2_Splice_Site_p.A220_splice|TINAGL1_uc010ogj.1_Splice_Site_p.A334_splice|TINAGL1_uc010ogk.1_Splice_Site_p.A365_splice	p.A365_splice	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	10	1220	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)						A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Splice_Site	SNP	ENST00000271064.7	37	c.1094_splice	CCDS343.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965923	0.74131	.	.	ENSG00000142910	ENST00000457433;ENST00000271064;ENST00000403321	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3409	0.87296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TINAGL1	31823940	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.212000	0.95126	2.449000	0.82847	0.655000	0.94253	.		0.597	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1		NM_022164	Intron	5	18	0	0	0	0.000602	0	5	18		
KHDRBS1	10657	broad.mit.edu	37	1	32503563	32503563	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32503563C>G	ENST00000327300.7	+	6	1200	c.1033C>G	c.(1033-1035)Cca>Gca	p.P345A	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P306A|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGCTCCAGCACCAAGAGCACG	0.542																																					Ovarian(173;401 1982 12359 31110 42403)	uc001bub.2		NaN																	0				ovary(1)	1						c.(1033-1035)CCA>GCA		KH domain containing, RNA binding, signal							88.0	85.0	86.0					1																	32503563		2203	4300	6503	SO:0001583	missense	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503563C>G	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1033C>G	1.37:g.32503563C>G	ENSP00000313829:p.Pro345Ala					KHDRBS1_uc001bua.1_Missense_Mutation_p.P306A|KHDRBS1_uc001buc.1_RNA	p.P345A	NM_006559	NP_006550	Q07666	KHDR1_HUMAN			6	1139	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	345			Pro-rich.			Missense_Mutation	SNP	ENST00000327300.7	37	c.1033C>G	CCDS350.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937589	0.73557	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.48522	0.81;0.87	5.84	4.93	0.64822	.	0.346876	0.33959	N	0.004395	T	0.47507	0.1449	M	0.73217	2.22	0.41365	D	0.987454	B;B	0.18741	0.018;0.03	B;B	0.21151	0.01;0.033	T	0.50608	-0.8808	10	0.66056	D	0.02	.	10.427	0.44385	0.0:0.7951:0.1341:0.0708	.	345;306	Q07666;Q07666-3	KHDR1_HUMAN;.	A	345;306;321	ENSP00000313829:P345A;ENSP00000417731:P306A	ENSP00000313829:P345A	P	+	1	0	KHDRBS1	32276150	0.995000	0.38212	0.996000	0.52242	0.803000	0.45373	1.872000	0.39549	1.617000	0.50277	0.650000	0.86243	CCA		0.542	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4		NM_006559		10	108	0	0	0	0.006214	0	10	108		
FAM167B	84734	broad.mit.edu	37	1	32713099	32713099	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:32713099C>T	ENST00000373582.3	+	1	266	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	26										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						AGCCTGGACTCTGTGAAGGCA	0.622																																						uc001buw.2		NaN																	0				ovary(1)	1						c.(76-78)TCT>TTT		hypothetical protein LOC84734							50.0	61.0	58.0					1																	32713099		2054	4204	6258	SO:0001583	missense	84734							g.chr1:32713099C>T	BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 90"""	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.77C>T	1.37:g.32713099C>T	ENSP00000362684:p.Ser26Phe						p.S26F	NM_032648	NP_116037	Q9BTA0	F167B_HUMAN			1	282	+			26					Q5TDH6	Missense_Mutation	SNP	ENST00000373582.3	37	c.77C>T	CCDS358.2	.	.	.	.	.	.	.	.	.	.	c	20.9	4.067682	0.76301	.	.	ENSG00000183615	ENST00000373582	T	0.34472	1.36	5.64	3.67	0.42095	.	0.270973	0.32401	U	0.006141	T	0.51822	0.1697	M	0.72894	2.215	0.48288	D	0.999621	D	0.64830	0.994	P	0.60173	0.87	T	0.54132	-0.8339	10	0.87932	D	0	13.3008	10.8855	0.46964	0.1168:0.673:0.2102:0.0	.	26	Q9BTA0	F167B_HUMAN	F	26	ENSP00000362684:S26F	ENSP00000362684:S26F	S	+	2	0	FAM167B	32485686	0.984000	0.35163	0.999000	0.59377	0.984000	0.73092	1.832000	0.39151	2.831000	0.97527	0.655000	0.94253	TCT		0.622	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019615.2		NM_032648		15	30	0	0	0	0.003163	0	15	30		
AGO4	192670	broad.mit.edu	37	1	36301437	36301437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:36301437G>C	ENST00000373210.3	+	13	1812	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	523	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										ttttGTAGCGGAGGTGAAACG	0.363																																						uc001bzj.1		NaN																	0				ovary(1)	1						c.(1567-1569)GAG>CAG		eukaryotic translation initiation factor 2C, 4							48.0	47.0	47.0					1																	36301437		2203	4300	6503	SO:0001583	missense	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36301437G>C	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1567G>C	1.37:g.36301437G>C	ENSP00000362306:p.Glu523Gln						p.E523Q	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			13	1757	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	523			Piwi.		A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.1567G>C	CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331906	0.95733	.	.	ENSG00000134698	ENST00000373210	T	0.30182	1.54	5.91	5.91	0.95273	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.50103	0.1596	M	0.71296	2.17	0.80722	D	1	P	0.48764	0.915	P	0.53006	0.715	T	0.37291	-0.9712	10	0.42905	T	0.14	-20.2459	20.2985	0.98592	0.0:0.0:1.0:0.0	.	523	Q9HCK5	AGO4_HUMAN	Q	523	ENSP00000362306:E523Q	ENSP00000362306:E523Q	E	+	1	0	EIF2C4	36074024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAG		0.363	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3		NM_017629		6	38	0	0	0	0.001168	0	6	38		
AGO4	192670	broad.mit.edu	37	1	36301505	36301505	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:36301505G>A	ENST00000373210.3	+	13	1880	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	545	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AAAATGTAGTGAAGACCTCAC	0.388																																						uc001bzj.1		NaN																	0				ovary(1)	1						c.(1633-1635)GTG>GTA		eukaryotic translation initiation factor 2C, 4							108.0	105.0	106.0					1																	36301505		2203	4300	6503	SO:0001819	synonymous_variant	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36301505G>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1635G>A	1.37:g.36301505G>A							p.V545V	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			13	1825	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	545			Piwi.		A7MD27	Silent	SNP	ENST00000373210.3	37	c.1635G>A	CCDS397.1																																																																																				0.388	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3		NM_017629		9	67	0	0	0	0.008291	0	9	67		
MACF1	23499	broad.mit.edu	37	1	39876004	39876004	+	Intron	SNP	G	G	T	rs375546160		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:39876004G>T	ENST00000372915.3	+	58	15918				MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|KIAA0754_ENST00000530275.1_5'Flank|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAGGAGAGGAGGAGGATGG	0.463																																						uc009vvt.1		NaN																	0					0						c.(67-69)GAG>TAG		hypothetical protein LOC643314							54.0	55.0	54.0					1																	39876004		1959	4142	6101	SO:0001627	intron_variant	643314							g.chr1:39876004G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15832-12042G>T	1.37:g.39876004G>T						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.E23*	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	829	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	Error:Variant_position_missing_in_O94854_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.67G>T																																																																																					0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		7	35	1	0	3.09899e-07	0.004482	3.47121e-07	7	35		
MOB3C	148932	broad.mit.edu	37	1	47078790	47078790	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:47078790G>C	ENST00000319928.3	-	2	434	c.204C>G	c.(202-204)ttC>ttG	p.F68L	MOB3C_ENST00000371940.1_Missense_Mutation_p.F91L|MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.F120L	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	68							metal ion binding (GO:0046872)										TGATGCGGTTGAAGAAGTCCA	0.652																																						uc001cqf.3		NaN																	0				pancreas(1)	1						c.(202-204)TTC>TTG		MOB1, Mps One Binder kinase activator-like 2C							112.0	79.0	90.0					1																	47078790		2203	4300	6503	SO:0001583	missense	148932						metal ion binding	g.chr1:47078790G>C	AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"""MOB kinase activators"""	29800	protein-coding gene	gene with protein product			"""MOB1, Mps One Binder kinase activator-like 2C (yeast)"""	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.204C>G	1.37:g.47078790G>C	ENSP00000315113:p.Phe68Leu					MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.F120L	p.F68L	NM_201403	NP_958805	Q70IA8	MOL2C_HUMAN			2	435	-	Acute lymphoblastic leukemia(166;0.155)		68					D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	ENST00000319928.3	37	c.204C>G	CCDS540.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889854	0.91889	.	.	ENSG00000142961	ENST00000319928;ENST00000271139;ENST00000371940	.	.	.	5.27	-0.152	0.13407	.	0.000000	0.85682	D	0.000000	T	0.81163	0.4765	H	0.95043	3.615	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.82102	-0.0623	9	0.87932	D	0	-31.7785	9.4844	0.38919	0.392:0.0:0.608:0.0	.	68	Q70IA8	MOB3C_HUMAN	L	68;120;91	.	ENSP00000271139:F120L	F	-	3	2	MOBKL2C	46851377	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.476000	0.45171	0.169000	0.19679	0.563000	0.77884	TTC		0.652	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_145279		7	27	0	0	0	0.001984	0	7	27		
NFIA	4774	broad.mit.edu	37	1	61869892	61869892	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:61869892G>C	ENST00000403491.3	+	8	1676	c.1192G>C	c.(1192-1194)Gaa>Caa	p.E398Q	NFIA_ENST00000371187.3_Missense_Mutation_p.E398Q|NFIA_ENST00000371184.2_Missense_Mutation_p.E269Q|NFIA_ENST00000357977.5_Missense_Mutation_p.E46Q|NFIA_ENST00000371189.4_Missense_Mutation_p.E443Q|NFIA_ENST00000371185.2_Missense_Mutation_p.E376Q|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000407417.3_Missense_Mutation_p.E390Q|NFIA_ENST00000485903.2_Missense_Mutation_p.E355Q|NFIA_ENST00000371191.1_Missense_Mutation_p.E421Q	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	398					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GACGCTGAAAGAATTTGTCCA	0.493																																						uc001czw.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1192-1194)GAA>CAA		nuclear factor I/A isoform 1							92.0	83.0	86.0					1																	61869892		2203	4300	6503	SO:0001583	missense	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61869892G>C	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1192G>C	1.37:g.61869892G>C	ENSP00000384523:p.Glu398Gln					NFIA_uc001czy.2_Missense_Mutation_p.E390Q|NFIA_uc010oos.1_Missense_Mutation_p.E443Q|NFIA_uc001czv.2_Missense_Mutation_p.E398Q|NFIA_uc001czx.2_Missense_Mutation_p.E46Q|NFIA_uc009wae.2_5'Flank	p.E398Q	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN			8	1676	+			398					B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Missense_Mutation	SNP	ENST00000403491.3	37	c.1192G>C	CCDS44156.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212012	0.79240	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371184;ENST00000371187	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	M	0.72894	2.215	0.58432	D	0.999999	D;P;B;P;B	0.61080	0.989;0.891;0.062;0.891;0.05	D;P;B;P;B	0.72982	0.979;0.507;0.032;0.507;0.019	T	0.59043	-0.7528	10	0.05620	T	0.96	-10.9074	20.0274	0.97527	0.0:0.0:1.0:0.0	.	443;421;376;398;398	F8W8W3;B1AKN8;B1AKN5;Q12857;Q12857-2	.;.;.;NFIA_HUMAN;.	Q	421;390;443;398;398;376;269;355	ENSP00000360233:E421Q;ENSP00000384680:E390Q;ENSP00000360231:E443Q;ENSP00000384523:E398Q;ENSP00000360227:E376Q;ENSP00000360226:E269Q	ENSP00000360226:E269Q	E	+	1	0	NFIA	61642480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.379000	0.97198	2.798000	0.96311	0.557000	0.71058	GAA		0.493	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3		NM_005595		5	48	0	0	0	0.000602	0	5	48		
DNASE2B	58511	broad.mit.edu	37	1	84880418	84880418	+	Missense_Mutation	SNP	G	G	A	rs146223730	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:84880418G>A	ENST00000370665.3	+	6	986	c.953G>A	c.(952-954)cGc>cAc	p.R318H	DNASE2B_ENST00000370662.3_Missense_Mutation_p.R110H	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	318					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		ACCAAAAATCGCTGGACATGT	0.388													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20580	0.0		0.0	False		,,,				2504	0.001				Pancreas(54;788 1175 11852 16034 30034)	uc001djt.1		NaN																	0					0						c.(952-954)CGC>CAC	Direct_reversal_of_damage	deoxyribonuclease II beta isoform 1 precursor		G	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	57.0	54.0	55.0		953,329	-8.0	0.1	1	dbSNP_134	55	0,8600		0,0,4300	no	missense,missense	DNASE2B	NM_021233.2,NM_058248.1	29,29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign	318/362,110/154	84880418	3,13003	2203	4300	6503	SO:0001583	missense	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880418G>A	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.953G>A	1.37:g.84880418G>A	ENSP00000359699:p.Arg318His					DNASE2B_uc001dju.1_Missense_Mutation_p.R110H|DNASE2B_uc009wch.1_Missense_Mutation_p.R110H	p.R318H	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	986	+			318					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	c.953G>A	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800989	0.31869	6.81E-4	0.0	ENSG00000137976	ENST00000370665;ENST00000370662	T;T	0.14266	2.52;2.52	5.28	-7.96	0.01144	.	0.674431	0.15196	N	0.275276	T	0.01627	0.0052	L	0.40543	1.245	0.24881	N	0.992225	B	0.14012	0.009	B	0.06405	0.002	T	0.45963	-0.9225	10	0.12430	T	0.62	0.4805	2.1859	0.03886	0.3884:0.0947:0.3289:0.1879	.	318	Q8WZ79	DNS2B_HUMAN	H	318;110	ENSP00000359699:R318H;ENSP00000359696:R110H	ENSP00000359696:R110H	R	+	2	0	DNASE2B	84653006	0.075000	0.21258	0.063000	0.19743	0.870000	0.49936	-0.408000	0.07169	-1.391000	0.02085	-1.085000	0.02201	CGC		0.388	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1		NM_021233		11	34	0	0	0	0.008291	0	11	34		
SLC25A24	29957	broad.mit.edu	37	1	108679440	108679440	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:108679440T>C	ENST00000565488.1	-	10	1488	c.1269A>G	c.(1267-1269)ccA>ccG	p.P423P	SLC25A24_ENST00000370041.4_Silent_p.P404P	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	423					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TATTCAGCTGTGGGGAACCTT	0.373																																						uc001dvn.3		NaN																	0				ovary(1)	1						c.(1267-1269)CCA>CCG		solute carrier family 25 member 24 isoform 1							77.0	79.0	78.0					1																	108679440		2203	4300	6503	SO:0001819	synonymous_variant	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108679440T>C	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.1269A>G	1.37:g.108679440T>C						SLC25A24_uc001dvm.2_Silent_p.P404P	p.P423P	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	10	1483	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	423			Mitochondrial matrix (Potential).|Solcar 3.		B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Silent	SNP	ENST00000565488.1	37	c.1269A>G	CCDS41361.1																																																																																				0.373	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2		NM_013386		9	36	0	0	0	0.004482	0	9	36		
DDX20	11218	broad.mit.edu	37	1	112308496	112308496	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:112308496C>G	ENST00000369702.4	+	11	2070	c.1450C>G	c.(1450-1452)Caa>Gaa	p.Q484E	DDX20_ENST00000475700.1_Missense_Mutation_p.Q92E	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	484	SMN interacting.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAACCCTTCAAATTCAGAA	0.368																																						uc001ebs.2		NaN																	0				lung(1)|kidney(1)	2						c.(1450-1452)CAA>GAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 20							98.0	103.0	102.0					1																	112308496		2203	4300	6503	SO:0001583	missense	11218				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	g.chr1:112308496C>G	AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1450C>G	1.37:g.112308496C>G	ENSP00000358716:p.Gln484Glu					DDX20_uc010owf.1_Missense_Mutation_p.Q246E|DDX20_uc001ebt.2_Missense_Mutation_p.Q92E	p.Q484E	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	11	1807	+		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)	484			SMN interacting.		B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	c.1450C>G	CCDS842.1	.	.	.	.	.	.	.	.	.	.	C	7.248	0.602595	0.13939	.	.	ENSG00000064703	ENST00000369702;ENST00000475700	T;T	0.33216	1.42;1.95	5.33	4.41	0.53225	.	0.566538	0.13407	N	0.390176	T	0.16257	0.0391	L	0.55103	1.725	0.58432	D	0.999993	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.001	T	0.04153	-1.0973	9	.	.	.	-50.4546	14.1247	0.65213	0.0:0.8484:0.1516:0.0	.	92;484	E9PJ60;Q9UHI6	.;DDX20_HUMAN	E	484;92	ENSP00000358716:Q484E;ENSP00000435660:Q92E	.	Q	+	1	0	DDX20	112110019	0.493000	0.26035	0.943000	0.38184	0.545000	0.35147	1.700000	0.37815	1.382000	0.46385	0.655000	0.94253	CAA		0.368	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204		10	78	0	0	0	0.006214	0	10	78		
BCL9	607	broad.mit.edu	37	1	147090920	147090920	+	Missense_Mutation	SNP	G	G	A	rs201495777		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:147090920G>A	ENST00000234739.3	+	8	1699	c.959G>A	c.(958-960)gGg>gAg	p.G320E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	320	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GTCTCCCAGGGGAGCAATAGC	0.607			T	"""IGH@, IGL@"""	B-ALL								G|||	1	0.000199681	0.0	0.0	5008	,	,		15233	0.0		0.001	False		,,,				2504	0.0					uc001epq.2		NaN		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(958-960)GGG>GAG		B-cell CLL/lymphoma 9							60.0	63.0	62.0					1																	147090920		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147090920G>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.959G>A	1.37:g.147090920G>A	ENSP00000234739:p.Gly320Glu					BCL9_uc010ozr.1_Missense_Mutation_p.G246E	p.G320E	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	1699	+	all_hematologic(923;0.115)		320			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.959G>A	CCDS30833.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.70	3.197054	0.58126	.	.	ENSG00000116128	ENST00000234739	T	0.58060	0.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.973	T	0.61753	-0.6998	10	0.87932	D	0	-9.3047	19.9142	0.97043	0.0:0.0:1.0:0.0	.	320;320	Q1JQ81;O00512	.;BCL9_HUMAN	E	320	ENSP00000234739:G320E	ENSP00000234739:G320E	G	+	2	0	BCL9	145557544	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	6.553000	0.73918	2.941000	0.99782	0.655000	0.94253	GGG		0.607	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1		NM_004326		7	93	0	0	0	0.001984	0	7	93		
SELENBP1	8991	broad.mit.edu	37	1	151337485	151337485	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:151337485C>G	ENST00000368868.5	-	11	1264	c.1173G>C	c.(1171-1173)caG>caC	p.Q391H	SELENBP1_ENST00000435071.1_Missense_Mutation_p.Q327H|SELENBP1_ENST00000447402.3_Missense_Mutation_p.Q329H|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.Q433H	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	391					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGCTGAGCTGGATCATCT	0.567																																						uc001exx.2		NaN																	0					0						c.(1171-1173)CAG>CAC		selenium binding protein 1							57.0	47.0	50.0					1																	151337485		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337485C>G	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1173G>C	1.37:g.151337485C>G	ENSP00000357861:p.Gln391His					SELENBP1_uc010pcy.1_Missense_Mutation_p.Q433H|SELENBP1_uc001exy.2_Missense_Mutation_p.Q288H|SELENBP1_uc001exz.2_Missense_Mutation_p.Q288H|SELENBP1_uc010pcz.1_Missense_Mutation_p.Q329H|SELENBP1_uc009wms.2_Missense_Mutation_p.Q227H|SELENBP1_uc009wmt.2_Missense_Mutation_p.Q288H|SELENBP1_uc001eya.2_Missense_Mutation_p.Q327H|SELENBP1_uc009wmu.2_Missense_Mutation_p.A260P	p.Q391H	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1220	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		391					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1173G>C	CCDS995.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488248	0.84854	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	T;T;T	0.29655	1.56;1.56;1.56	4.37	4.37	0.52481	WD40/YVTN repeat-like-containing domain (1);	0.199393	0.46145	D	0.000303	T	0.56775	0.2008	M	0.92604	3.325	0.80722	D	1	D;D;D;D	0.89917	0.989;1.0;0.999;1.0	P;D;D;D	0.79108	0.832;0.992;0.946;0.987	T	0.68409	-0.5416	10	0.87932	D	0	-7.2491	13.7741	0.63044	0.0:1.0:0.0:0.0	.	329;244;327;391	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	H	391;329;327	ENSP00000357861:Q391H;ENSP00000413960:Q329H;ENSP00000408263:Q327H	ENSP00000357861:Q391H	Q	-	3	2	SELENBP1	149604109	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.416000	0.80143	2.270000	0.75569	0.655000	0.94253	CAG		0.567	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4				3	7	0	0	0	0.004672	0	3	7		
THBS3	7059	broad.mit.edu	37	1	155170384	155170384	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:155170384G>T	ENST00000368378.3	-	14	1586	c.1566C>A	c.(1564-1566)ttC>ttA	p.F522L	THBS3_ENST00000541990.1_Missense_Mutation_p.F51L|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000457183.2_Missense_Mutation_p.F402L|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000486260.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	522					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTGTTGGGGAACAGCCGGC	0.517																																						uc001fix.2		NaN																	0				breast(3)|ovary(2)	5						c.(1564-1566)TTC>TTA		thrombospondin 3 precursor							127.0	122.0	124.0					1																	155170384		2203	4300	6503	SO:0001583	missense	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155170384G>T	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1566C>A	1.37:g.155170384G>T	ENSP00000357362:p.Phe522Leu					RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.F513L|THBS3_uc001fiz.2_Missense_Mutation_p.F485L|THBS3_uc001fiy.2_Missense_Mutation_p.F51L|THBS3_uc010pfu.1_Missense_Mutation_p.F402L|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA	p.F522L	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		14	1589	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		522			TSP type-3 2.		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	ENST00000368378.3	37	c.1566C>A	CCDS1099.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950411	0.34377	.	.	ENSG00000169231	ENST00000368378;ENST00000457183;ENST00000541990	D;D;D	0.98249	-4.82;-4.82;-4.82	5.14	-2.01	0.07410	.	0.251200	0.40640	N	0.001056	T	0.78842	0.4347	N	0.00771	-1.2	0.80722	D	1	B;B;B;B	0.18741	0.013;0.03;0.03;0.03	B;B;B;B	0.22152	0.038;0.026;0.026;0.026	T	0.68383	-0.5423	10	0.25751	T	0.34	-8.8953	1.1861	0.01855	0.3328:0.25:0.2895:0.1277	.	402;522;522;522	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	L	522;402;51	ENSP00000357362:F522L;ENSP00000392207:F402L;ENSP00000437353:F51L	ENSP00000357362:F522L	F	-	3	2	THBS3	153437008	0.324000	0.24652	0.994000	0.49952	0.998000	0.95712	-0.380000	0.07427	-0.176000	0.10707	0.655000	0.94253	TTC		0.517	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1		NM_007112		10	76	1	0	1.58986e-06	0.008291	1.76115e-06	10	76		
FCRL5	83416	broad.mit.edu	37	1	157514143	157514143	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:157514143C>G	ENST00000361835.3	-	5	910	c.753G>C	c.(751-753)tgG>tgC	p.W251C	FCRL5_ENST00000368190.3_Missense_Mutation_p.W251C|FCRL5_ENST00000368189.3_Missense_Mutation_p.W251C|FCRL5_ENST00000368191.3_Missense_Mutation_p.W166C|FCRL5_ENST00000356953.4_Missense_Mutation_p.W251C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	251	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AATCTTTACTCCACATGGCAG	0.512																																						uc001fqu.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(751-753)TGG>TGC		Fc receptor-like 5							147.0	152.0	150.0					1																	157514143		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514143C>G	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.753G>C	1.37:g.157514143C>G	ENSP00000354691:p.Trp251Cys					FCRL5_uc009wsm.2_Missense_Mutation_p.W251C|FCRL5_uc010phv.1_Missense_Mutation_p.W251C|FCRL5_uc010phw.1_Missense_Mutation_p.W166C|FCRL5_uc001fqv.1_Missense_Mutation_p.W251C|FCRL5_uc010phx.1_Missense_Mutation_p.W2C	p.W251C	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			5	911	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	251			Extracellular (Potential).|Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.753G>C	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865132	0.32977	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	4.3	1.24	0.21308	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	4.760450	0.00424	N	0.000066	T	0.21307	0.0513	M	0.79614	2.46	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79108	0.992;0.986;0.982;0.992;0.969;0.992	T	0.02238	-1.1190	10	0.51188	T	0.08	.	6.1116	0.20104	0.329:0.5781:0.0:0.0929	.	282;166;251;251;251;251	B4DW39;F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;.;FCRL5_HUMAN	C	251;251;251;166;251	ENSP00000354691:W251C;ENSP00000349434:W251C;ENSP00000357173:W251C;ENSP00000357174:W166C;ENSP00000357172:W251C	ENSP00000349434:W251C	W	-	3	0	FCRL5	155780767	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.961000	0.29267	0.078000	0.16900	0.563000	0.77884	TGG		0.512	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1		NM_031281		13	171	0	0	0	0.001855	0	13	171		
FCRL3	115352	broad.mit.edu	37	1	157667580	157667580	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:157667580C>G	ENST00000368184.3	-	5	719	c.428G>C	c.(427-429)aGt>aCt	p.S143T	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.S143T|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	143	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TAAATTATAACTATTAGGAAG	0.348																																						uc001frb.2		NaN																	0				ovary(3)|breast(1)	4						c.(427-429)AGT>ACT		Fc receptor-like 3 precursor							169.0	170.0	170.0					1																	157667580		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667580C>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.428G>C	1.37:g.157667580C>G	ENSP00000357167:p.Ser143Thr					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.S143T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.S143T	p.S143T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			5	720	-	all_hematologic(112;0.0378)		143			Ig-like C2-type 2.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.428G>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	5.756	0.323856	0.10900	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12672	2.66;2.66	5.08	-10.2	0.00374	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	8.344970	0.00166	N	0.000017	T	0.01627	0.0052	L	0.37561	1.115	0.09310	N	1	B;B	0.18741	0.03;0.024	B;B	0.25405	0.06;0.021	T	0.44467	-0.9326	10	0.10636	T	0.68	.	0.4172	0.00450	0.3555:0.2865:0.1678:0.1901	.	143;143	Q96P31;Q96P31-6	FCRL3_HUMAN;.	T	143	ENSP00000357169:S143T;ENSP00000357167:S143T	ENSP00000292392:S143T	S	-	2	0	FCRL3	155934204	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.228000	0.00075	-3.089000	0.00248	0.561000	0.74099	AGT		0.348	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2		NM_052939		15	114	0	0	0	0.003163	0	15	114		
KIRREL	55243	broad.mit.edu	37	1	158059372	158059372	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:158059372G>T	ENST00000359209.6	+	9	1192	c.1125G>T	c.(1123-1125)gtG>gtT	p.V375V	KIRREL_ENST00000416935.2_Silent_p.V275V|KIRREL_ENST00000360089.4_Silent_p.V211V|KIRREL_ENST00000368173.3_Silent_p.V391V|KIRREL_ENST00000392272.2_Silent_p.V272V|KIRREL_ENST00000368172.1_Silent_p.V189V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	375	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GGGCCATCGTGCCTCGAATCG	0.637																																						uc001frn.3		NaN																	0				ovary(1)	1						c.(1123-1125)GTG>GTT		kin of IRRE like precursor							53.0	55.0	54.0					1																	158059372		2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158059372G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1125G>T	1.37:g.158059372G>T						KIRREL_uc010pib.1_Silent_p.V275V|KIRREL_uc009wsq.2_Silent_p.V211V|KIRREL_uc001fro.3_Silent_p.V189V	p.V375V	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			9	1529	+	all_hematologic(112;0.0378)		375			Extracellular (Potential).|Ig-like C2-type 4.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.1125G>T	CCDS1172.2																																																																																				0.637	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3		NM_018240		18	36	1	0	1.56452e-12	0.007413	1.84522e-12	18	36		
CADM3	57863	broad.mit.edu	37	1	159166681	159166681	+	Splice_Site	SNP	C	C	G	rs149370954		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:159166681C>G	ENST00000368125.4	+	7	940	c.783C>G	c.(781-783)gtC>gtG	p.V261V	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Splice_Site_p.V295V	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	261	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCCTCGACAGCCCCCAGCAGT	0.517																																						uc001ftl.2		NaN																	0				ovary(2)	2						c.(781-783)GTC>GTG		cell adhesion molecule 3 isoform 2							70.0	67.0	68.0					1																	159166681		2203	4300	6503	SO:0001630	splice_region_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159166681C>G	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.783-1C>G	1.37:g.159166681C>G						CADM3_uc009wsy.1_Silent_p.V215V|CADM3_uc001ftk.2_Silent_p.V295V|uc001ftm.1_RNA	p.V261V	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			7	925	+	all_hematologic(112;0.0429)		261			Ig-like C2-type 2.|Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.783C>G	CCDS44251.1																																																																																				0.517	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1		NM_021189	Silent	5	53	0	0	0	0.000602	0	5	53		
SLAMF9	89886	broad.mit.edu	37	1	159923348	159923348	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:159923348C>T	ENST00000368093.3	-	2	258	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	SLAMF9_ENST00000466773.1_5'Flank|SLAMF9_ENST00000368092.3_Missense_Mutation_p.E48K	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	48	Ig-like V-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAACCTCTTCATCTGGTGGT	0.532																																						uc001fus.2		NaN																	0				ovary(1)	1						c.(142-144)GAA>AAA		SLAM family member 9 isoform 1							142.0	131.0	135.0					1																	159923348		2203	4300	6503	SO:0001583	missense	89886					integral to membrane		g.chr1:159923348C>T	AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"""Immunoglobulin superfamily / V-set domain containing"""	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.142G>A	1.37:g.159923348C>T	ENSP00000357072:p.Glu48Lys					SLAMF9_uc009wtd.2_Missense_Mutation_p.E48K|SLAMF9_uc001fut.2_Missense_Mutation_p.E48K	p.E48K	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	259	-	all_hematologic(112;0.093)		48			Extracellular (Potential).		Q5JRQ9|Q5JRR0|Q6UWG1	Missense_Mutation	SNP	ENST00000368093.3	37	c.142G>A	CCDS1191.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929309	0.52759	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	T;T	0.29397	1.57;1.57	5.61	2.54	0.30619	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.297056	0.31897	N	0.006888	T	0.10252	0.0251	L	0.51914	1.62	0.09310	N	1	B;B	0.29531	0.093;0.247	B;B	0.33750	0.074;0.169	T	0.20207	-1.0282	9	.	.	.	-4.7708	3.8875	0.09105	0.1683:0.5813:0.1627:0.0877	.	48;48	Q96A28-2;Q96A28	.;SLAF9_HUMAN	K	48	ENSP00000357072:E48K;ENSP00000357071:E48K	.	E	-	1	0	SLAMF9	158189972	0.119000	0.22226	0.014000	0.15608	0.002000	0.02628	1.412000	0.34714	0.711000	0.32018	0.655000	0.94253	GAA		0.532	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060630.1		NM_033438		9	83	0	0	0	0.008291	0	9	83		
PEX19	5824	broad.mit.edu	37	1	160253381	160253381	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160253381G>A	ENST00000368072.5	-	2	140	c.119C>T	c.(118-120)tCt>tTt	p.S40F	PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000608310.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	40	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTGGTGGTAGAAGGGGGTGC	0.547																																						uc001fvs.2		NaN																	0					0						c.(118-120)TCT>TTT		peroxisomal biogenesis factor 19 isoform a							69.0	69.0	69.0					1																	160253381		2203	4300	6503	SO:0001583	missense	5824				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding	g.chr1:160253381G>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.119C>T	1.37:g.160253381G>A	ENSP00000357051:p.Ser40Phe					DCAF8_uc010pjc.1_Intron|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_Intron	p.S40F	NM_002857	NP_002848	P40855	PEX19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	146	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		40			Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.		D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.119C>T	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.164897	0.38217	.	.	ENSG00000162735	ENST00000368072;ENST00000429425;ENST00000392220	.	.	.	4.43	4.43	0.53597	.	0.415486	0.23828	N	0.044173	T	0.18087	0.0434	N	0.08118	0	0.80722	D	1	B	0.22480	0.07	B	0.15484	0.013	T	0.11397	-1.0589	9	0.62326	D	0.03	-2.2115	11.2558	0.49052	0.0:0.0:0.817:0.183	.	40	P40855	PEX19_HUMAN	F	40;20;20	.	ENSP00000357051:S40F	S	-	2	0	PEX19	158520005	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.509000	0.60448	2.293000	0.77203	0.563000	0.77884	TCT		0.547	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2		NM_002857		11	40	0	0	0	0.013537	0	11	40		
VANGL2	57216	broad.mit.edu	37	1	160395046	160395046	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160395046C>T	ENST00000368061.2	+	8	1918	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	482					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTCTTAAAACGCCAGGACTT	0.532																																						uc001fwb.1		NaN																	0				ovary(1)	1						c.(1444-1446)CGC>TGC		vang-like 2							89.0	77.0	81.0					1																	160395046		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160395046C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1444C>T	1.37:g.160395046C>T	ENSP00000357040:p.Arg482Cys					VANGL2_uc001fwc.1_Missense_Mutation_p.R482C	p.R482C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1743	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		482			Cytoplasmic (Potential).		D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1444C>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643523	0.47258	.	.	ENSG00000162738	ENST00000368061	T	0.80480	-1.38	4.17	4.17	0.49024	.	0.062131	0.64402	D	0.000003	T	0.65709	0.2717	N	0.03948	-0.315	0.80722	D	1	D	0.76494	0.999	P	0.60236	0.871	T	0.72401	-0.4305	10	0.30854	T	0.27	-6.8866	15.1991	0.73120	0.0:1.0:0.0:0.0	.	482	Q9ULK5	VANG2_HUMAN	C	482	ENSP00000357040:R482C	ENSP00000357040:R482C	R	+	1	0	VANGL2	158661670	0.985000	0.35326	1.000000	0.80357	0.994000	0.84299	1.986000	0.40677	2.112000	0.64535	0.591000	0.81541	CGC		0.532	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1		NM_020335		4	59	0	0	0	0.009096	0	4	59		
LY9	4063	broad.mit.edu	37	1	160769632	160769632	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:160769632G>A	ENST00000263285.6	+	2	244	c.214G>A	c.(214-216)Gac>Aac	p.D72N	LY9_ENST00000368037.5_Missense_Mutation_p.D72N|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.D72N|LY9_ENST00000368041.2_Missense_Mutation_p.D32N|LY9_ENST00000341032.4_Missense_Mutation_p.D72N|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000392203.4_Missense_Mutation_p.D72N			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	72	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATCTCAGTAGACACAGAGAT	0.493																																						uc001fwu.2		NaN																	0				ovary(1)	1						c.(214-216)GAC>AAC		lymphocyte antigen 9 isoform a							87.0	83.0	85.0					1																	160769632		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160769632G>A	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.214G>A	1.37:g.160769632G>A	ENSP00000263285:p.Asp72Asn					LY9_uc001fwt.2_Missense_Mutation_p.D72N|LY9_uc010pjs.1_Missense_Mutation_p.D72N|LY9_uc001fwv.2_Missense_Mutation_p.D72N|LY9_uc001fww.2_Missense_Mutation_p.D72N|LY9_uc001fwx.2_Missense_Mutation_p.D72N|LY9_uc001fwy.1_5'UTR	p.D72N	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		2	264	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		72			Extracellular (Potential).|Ig-like V-type 1.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.214G>A	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431758	0.25813	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039;ENST00000392203;ENST00000368037	T;T;T	0.64991	2.01;2.01;-0.13	4.04	-0.371	0.12525	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.160310	0.06643	N	0.761406	T	0.29061	0.0722	L	0.43554	1.36	0.09310	N	0.999999	P;P;P;P;P;P	0.42735	0.747;0.759;0.633;0.506;0.578;0.788	B;B;B;B;B;B	0.39660	0.306;0.153;0.07;0.131;0.1;0.23	T	0.15435	-1.0437	10	0.38643	T	0.18	-6.5705	3.0203	0.06073	0.2172:0.0:0.4103:0.3724	.	72;32;72;72;72;72	B4E0J5;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;.;LY9_HUMAN;.	N	72;72;72;72;72;32;32	ENSP00000342921:D72N;ENSP00000263285:D72N;ENSP00000357018:D72N	ENSP00000263285:D72N	D	+	1	0	LY9	159036256	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	0.261000	0.18442	0.052000	0.16007	0.563000	0.77884	GAC		0.493	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3		NM_002348		10	77	0	0	0	0.006214	0	10	77		
ATF6	22926	broad.mit.edu	37	1	161928235	161928235	+	Splice_Site	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:161928235G>A	ENST00000367942.3	+	16	1871		c.e16-1			NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6						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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CCTGTCTGCAGAGAATGTGAT	0.433																																						uc001gbr.2		NaN																	0				ovary(2)|skin(1)	3						c.e16-1		activating transcription factor 6							122.0	102.0	109.0					1																	161928235		2203	4300	6503	SO:0001630	splice_region_variant	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161928235G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1805-1G>A	1.37:g.161928235G>A						ATF6_uc001gbs.2_5'Flank	p.E602_splice	NM_007348	NP_031374	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		16	1872	+	all_hematologic(112;0.156)							O15139|Q5VW62|Q6IPB5|Q9UEC9	Splice_Site	SNP	ENST00000367942.3	37	c.1805_splice	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435234	0.83885	.	.	ENSG00000118217	ENST00000367942	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2159	0.86944	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF6	160194859	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	7.913000	0.87471	2.657000	0.90304	0.650000	0.86243	.		0.433	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2		NM_007348	Intron	7	90	0	0	0	0.001984	0	7	90		
FMO3	2328	broad.mit.edu	37	1	171073096	171073096	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:171073096G>A	ENST00000367755.4	+	3	414	c.303G>A	c.(301-303)ctG>ctA	p.L101L	FMO3_ENST00000542847.1_Silent_p.L81L|FMO3_ENST00000392085.2_Silent_p.L101L|FMO3_ENST00000538429.1_Intron|MIR1295A_ENST00000408463.1_RNA	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	101					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGAACCTCCTGAAGTACATAC	0.378																																						uc001ghi.2		NaN																	0				skin(1)	1						c.(301-303)CTG>CTA		flavin containing monooxygenase 3							80.0	74.0	76.0					1																	171073096		2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171073096G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.303G>A	1.37:g.171073096G>A						FMO3_uc001ghh.2_Silent_p.L101L|FMO3_uc010pmb.1_Silent_p.L81L|FMO3_uc010pmc.1_Intron|MIR1295_hsa-mir-1295|MI0006357_5'Flank	p.L101L	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			3	414	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		101					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.303G>A	CCDS1292.1																																																																																				0.378	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1		NM_006894		12	55	0	0	0	0.010729	0	12	55		
TNN	63923	broad.mit.edu	37	1	175052985	175052985	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:175052985T>A	ENST00000239462.4	+	5	1261	c.1148T>A	c.(1147-1149)cTg>cAg	p.L383Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	383	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TACTACAAGCTGCGATATGGC	0.552																																						uc001gkl.1		NaN																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1147-1149)CTG>CAG		tenascin N precursor							133.0	109.0	117.0					1																	175052985		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175052985T>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1148T>A	1.37:g.175052985T>A	ENSP00000239462:p.Leu383Gln					TNN_uc010pmx.1_Missense_Mutation_p.L383Q	p.L383Q	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	5	1261	+		Breast(1374;0.000962)	383			Fibronectin type-III 2.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1148T>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.526351	0.85600	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.61040	0.14	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79112	0.4391	M	0.86864	2.845	0.46336	D	0.998992	D;D	0.89917	0.998;1.0	D;D	0.79108	0.965;0.992	T	0.83318	-0.0019	10	0.87932	D	0	.	15.3039	0.73976	0.0:0.0:0.0:1.0	.	383;383	B3KXB6;Q9UQP3	.;TENN_HUMAN	Q	383	ENSP00000239462:L383Q	ENSP00000239462:L383Q	L	+	2	0	TNN	173319608	0.999000	0.42202	0.922000	0.36590	0.920000	0.55202	6.917000	0.75782	2.080000	0.62538	0.482000	0.46254	CTG		0.552	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1		XM_040527		6	80	0	0	0	0.001168	0	6	80		
ASTN1	460	broad.mit.edu	37	1	177133537	177133537	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:177133537G>A	ENST00000367654.3	-	1	487	c.276C>T	c.(274-276)ttC>ttT	p.F92F	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.F92F|ASTN1_ENST00000424564.2_Silent_p.F92F|ASTN1_ENST00000361833.2_Silent_p.F92F	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	92					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.F92F(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACCCAGCACGAAGTAGGGCA	0.692																																						uc001glc.2		NaN																	1	Substitution - coding silent(1)		breast(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(274-276)TTC>TTT		astrotactin isoform 1							32.0	27.0	29.0					1																	177133537		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177133537G>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.276C>T	1.37:g.177133537G>A						ASTN1_uc001glb.1_Silent_p.F92F|ASTN1_uc001gld.1_Silent_p.F92F|ASTN1_uc009wwx.1_Silent_p.F92F	p.F92F	NM_004319	NP_004310	O14525	ASTN1_HUMAN			1	488	-			92					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.276C>T																																																																																					0.692	ASTN1-201	KNOWN	basic	protein_coding	protein_coding			NM_004319		4	15	0	0	0	0.009096	0	4	15		
CACNA1E	777	broad.mit.edu	37	1	181754895	181754895	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:181754895A>T	ENST00000367573.2	+	43	5726	c.5726A>T	c.(5725-5727)cAg>cTg	p.Q1909L	CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1860L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1909L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1841L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1516L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q1890L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1890L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1909					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTCTGCCTCAGGAGATCATT	0.507																																						uc001gow.2		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5725-5727)CAG>CTG		calcium channel, voltage-dependent, R type,							191.0	185.0	187.0					1																	181754895		1917	4140	6057	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181754895A>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5726A>T	1.37:g.181754895A>T	ENSP00000356545:p.Gln1909Leu					CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1797L|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1135L	p.Q1909L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			43	5891	+			1909			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5726A>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244757	0.79912	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96685	-4.01;-4.01;-4.03;-4.02;-4.09;-4.03;-4.03	5.49	5.49	0.81192	.	0.447214	0.26411	N	0.024530	D	0.93953	0.8064	L	0.32530	0.975	0.80722	D	1	B;P	0.40731	0.306;0.728	B;B	0.41764	0.131;0.366	D	0.94437	0.7655	10	0.59425	D	0.04	.	15.5542	0.76180	1.0:0.0:0.0:0.0	.	1890;1909	Q15878-2;Q15878-3	.;.	L	1909;1890;1860;1841;1516;1890;1909	ENSP00000356542:Q1909L;ENSP00000434814:Q1890L;ENSP00000350183:Q1860L;ENSP00000351101:Q1841L;ENSP00000356539:Q1516L;ENSP00000353222:Q1890L;ENSP00000356545:Q1909L	ENSP00000350183:Q1860L	Q	+	2	0	CACNA1E	180021518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.753000	0.68736	2.205000	0.71048	0.528000	0.53228	CAG		0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2		NM_000721		20	248	0	0	0	0.008871	0	20	248		
TRMT1L	81627	broad.mit.edu	37	1	185113039	185113039	+	Splice_Site	SNP	G	G	C	rs371545842		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:185113039G>C	ENST00000367506.5	-	6	1046	c.778C>G	c.(778-780)Cgg>Ggg	p.R260G	TRMT1L_ENST00000367504.3_Splice_Site_p.R104G	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	260	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTATCTTACCGATTTAGTTTC	0.303																																						uc001grf.3		NaN																	0					0						c.(778-780)CGG>GGG		N2,N2-dimethylguanosine tRNA							73.0	77.0	75.0					1																	185113039		2201	4299	6500	SO:0001630	splice_region_variant	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185113039G>C	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.779+1C>G	1.37:g.185113039G>C						C1orf25_uc010pon.1_Missense_Mutation_p.R104G	p.R260G	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			6	1050	-			260					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.778C>G	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868335	0.72065	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.03	3.98	0.46160	.	0.049462	0.85682	D	0.000000	T	0.77818	0.4187	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80084	-0.1530	9	0.87932	D	0	-10.4364	9.8555	0.41084	0.0:0.0:0.6955:0.3045	.	260	Q7Z2T5	TRM1L_HUMAN	G	104;260	.	ENSP00000356474:R104G	R	-	1	2	TRMT1L	183379662	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.792000	0.62467	2.491000	0.84063	0.585000	0.79938	CGG		0.303	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1		NM_030934	Missense_Mutation	8	34	0	0	0	0.00308	0	8	34		
HMCN1	83872	broad.mit.edu	37	1	186045614	186045614	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:186045614G>T	ENST00000271588.4	+	54	8574	c.8345G>T	c.(8344-8346)aGg>aTg	p.R2782M	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2782M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2782	Ig-like C2-type 26.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GATACTGGCAGGAATGGTGAA	0.413																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(8344-8346)AGG>ATG		hemicentin 1 precursor							129.0	103.0	112.0					1																	186045614		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186045614G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8345G>T	1.37:g.186045614G>T	ENSP00000271588:p.Arg2782Met						p.R2782M	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			54	8574	+			2782			Ig-like C2-type 26.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.8345G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907269	0.52333	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67523	-0.26;-0.27	5.2	5.2	0.72013	Immunoglobulin-like (1);	0.281660	0.38897	N	0.001523	T	0.77631	0.4159	L	0.59967	1.855	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.69506	-0.5127	10	0.51188	T	0.08	.	13.4298	0.61049	0.0757:0.0:0.9243:0.0	.	2782	Q96RW7	HMCN1_HUMAN	M	2782	ENSP00000271588:R2782M;ENSP00000356462:R2782M	ENSP00000271588:R2782M	R	+	2	0	HMCN1	184312237	1.000000	0.71417	0.184000	0.23157	0.769000	0.43574	5.542000	0.67218	2.567000	0.86603	0.655000	0.94253	AGG		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		5	85	1	0	1.23904e-05	0.000602	1.34649e-05	5	85		
CHIT1	1118	broad.mit.edu	37	1	203188877	203188877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:203188877G>T	ENST00000367229.1	-	8	864	c.830C>A	c.(829-831)tCa>tAa	p.S277*	CHIT1_ENST00000255427.3_Nonsense_Mutation_p.S258*|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.S268*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	277					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCTGGTGTCTGATGAGGAGGC	0.597																																						uc001gzn.2		NaN																	0					0						c.(829-831)TCA>TAA		chitotriosidase precursor							52.0	52.0	52.0					1																	203188877		2203	4300	6503	SO:0001587	stop_gained	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203188877G>T	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.830C>A	1.37:g.203188877G>T	ENSP00000356198:p.Ser277*					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Nonsense_Mutation_p.S68*|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Nonsense_Mutation_p.S268*	p.S277*	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			8	926	-			277					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Nonsense_Mutation	SNP	ENST00000367229.1	37	c.830C>A	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996368	0.35226	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	.	.	.	4.68	1.74	0.24563	.	0.513584	0.16338	N	0.218831	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2319	6.0197	0.19623	0.3412:0.0:0.6588:0.0	.	.	.	.	X	277;258;268	.	ENSP00000255427:S258X	S	-	2	0	CHIT1	201455500	0.971000	0.33674	0.001000	0.08648	0.206000	0.24218	3.315000	0.51951	0.180000	0.19960	0.655000	0.94253	TCA		0.597	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		NM_003465		11	54	1	0	0.000673444	0.008291	0.00070694	11	54		
CNTN2	6900	broad.mit.edu	37	1	205027351	205027351	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:205027351C>T	ENST00000331830.4	+	4	542	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	86	Ig-like C2-type 1.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGCCAGGTTCCCGTCACCAGC	0.632																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NaN																	0				ovary(1)	1						c.(256-258)TCC>TCT		contactin 2 precursor							27.0	28.0	28.0					1																	205027351		2203	4300	6503	SO:0001819	synonymous_variant	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205027351C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.258C>T	1.37:g.205027351C>T						CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.2_5'UTR|CNTN2_uc001hbs.2_5'Flank	p.S86S	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		4	527	+	all_cancers(21;0.144)|Breast(84;0.0437)		86			Ig-like C2-type 1.		P78432|Q5T054	Silent	SNP	ENST00000331830.4	37	c.258C>T	CCDS1449.1																																																																																				0.632	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3		NM_005076		4	25	0	0	0	0.009096	0	4	25		
NUAK2	81788	broad.mit.edu	37	1	205290642	205290642	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:205290642C>A	ENST00000367157.3	-	1	241	c.115G>T	c.(115-117)Gcg>Tcg	p.A39S		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGCTTCACCGCCTGCTTCTTC	0.667																																						uc001hce.2		NaN																	0				ovary(3)|stomach(1)|breast(1)	5						c.(115-117)GCG>TCG		NUAK family, SNF1-like kinase, 2							51.0	52.0	52.0					1																	205290642		2203	4300	6503	SO:0001583	missense	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205290642C>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.115G>T	1.37:g.205290642C>A	ENSP00000356125:p.Ala39Ser						p.A39S	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		1	242	-	Breast(84;0.186)		39						Missense_Mutation	SNP	ENST00000367157.3	37	c.115G>T	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	C	36	5.918731	0.97105	.	.	ENSG00000163545	ENST00000367157	T	0.72615	-0.67	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.000000	0.37761	N	0.001944	T	0.76772	0.4034	L	0.34521	1.04	0.58432	D	0.999999	D	0.67145	0.996	P	0.62813	0.907	T	0.77800	-0.2452	10	0.52906	T	0.07	.	18.8663	0.92293	0.0:1.0:0.0:0.0	.	39	Q9H093	NUAK2_HUMAN	S	39	ENSP00000356125:A39S	ENSP00000356125:A39S	A	-	1	0	NUAK2	203557265	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.614000	0.82996	2.545000	0.85829	0.561000	0.74099	GCG		0.667	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1		NM_030952		4	19	1	0	0.00909568	0.009096	0.00935222	4	19		
PIGR	5284	broad.mit.edu	37	1	207110743	207110743	+	Missense_Mutation	SNP	C	C	G	rs202199977		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:207110743C>G	ENST00000356495.4	-	4	925	c.742G>C	c.(742-744)Gac>Cac	p.D248H		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	248					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCTCAGGTCTTCATAAACC	0.547																																						uc001hez.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(742-744)GAC>CAC		polymeric immunoglobulin receptor precursor							59.0	58.0	58.0					1																	207110743		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207110743C>G		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.742G>C	1.37:g.207110743C>G	ENSP00000348888:p.Asp248His					PIGR_uc009xbz.2_Missense_Mutation_p.D248H	p.D248H	NM_002644	NP_002635	P01833	PIGR_HUMAN			4	926	-			248			Extracellular (Potential).		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.742G>C	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007722	0.54361	.	.	ENSG00000162896	ENST00000356495	T	0.04119	3.7	5.79	3.82	0.43975	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.403027	0.26106	N	0.026311	T	0.13586	0.0329	L	0.56396	1.775	0.33325	D	0.56787	D	0.65815	0.995	D	0.67382	0.951	T	0.09185	-1.0686	10	0.49607	T	0.09	-13.0612	7.2668	0.26234	0.0:0.5835:0.3235:0.093	.	248	P01833	PIGR_HUMAN	H	248	ENSP00000348888:D248H	ENSP00000348888:D248H	D	-	1	0	PIGR	205177366	0.629000	0.27146	0.996000	0.52242	0.557000	0.35523	0.831000	0.27476	0.703000	0.31848	0.655000	0.94253	GAC		0.547	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1		NM_002644		12	68	0	0	0	0.010729	0	12	68		
C1orf116	79098	broad.mit.edu	37	1	207200869	207200869	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:207200869C>A	ENST00000359470.5	-	2	324	c.75G>T	c.(73-75)atG>atT	p.M25I	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	25						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGCTGCTCATCATGCTGTCAC	0.632																																						uc001hfd.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(73-75)ATG>ATT		specifically androgen-regulated protein isoform							98.0	85.0	90.0					1																	207200869		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207200869C>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.75G>T	1.37:g.207200869C>A	ENSP00000352447:p.Met25Ile					C1orf116_uc009xcb.1_Intron	p.M25I	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			2	334	-	Prostate(682;0.19)		25					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.75G>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786289	0.70337	.	.	ENSG00000182795	ENST00000359470	T	0.10477	2.87	5.63	4.71	0.59529	.	0.259510	0.49305	N	0.000152	T	0.12050	0.0293	L	0.51422	1.61	0.80722	D	1	P	0.39759	0.687	B	0.34779	0.189	T	0.03240	-1.1057	10	0.44086	T	0.13	-14.7414	15.6105	0.76713	0.0:0.862:0.138:0.0	.	25	Q9BW04	SARG_HUMAN	I	25	ENSP00000352447:M25I	ENSP00000352447:M25I	M	-	3	0	C1orf116	205267492	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	2.049000	0.41288	1.335000	0.45486	0.655000	0.94253	ATG		0.632	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1		NM_024115		6	51	1	0	3.59834e-05	0.001168	3.88931e-05	6	51		
IRF6	3664	broad.mit.edu	37	1	209974736	209974736	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:209974736A>T	ENST00000367021.3	-	3	195	c.23T>A	c.(22-24)gTc>gAc	p.V8D	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	8					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTAGCCGGACTCTGCGGGG	0.597										HNSCC(57;0.16)																												uc001hhq.1		NaN																	0				ovary(2)	2						c.(22-24)GTC>GAC		interferon regulatory factor 6							49.0	57.0	54.0					1																	209974736		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974736A>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.23T>A	1.37:g.209974736A>T	ENSP00000355988:p.Val8Asp	HNSCC(57;0.16)				IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.V8D	p.V8D	NM_006147	NP_006138	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	286	-			8			IRF tryptophan pentad repeat.		B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.23T>A	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815930	0.90790	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.98264	-4.83;-4.83	6.17	6.17	0.99709	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (3);	0.110807	0.64402	D	0.000010	D	0.98476	0.9492	L	0.55834	1.745	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.99123	1.0850	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	8	O14896	IRF6_HUMAN	D	8	ENSP00000355988:V8D;ENSP00000403855:V8D	.	V	-	2	0	IRF6	208041359	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.747000	0.91610	2.371000	0.80710	0.533000	0.62120	GTC		0.597	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1		NM_006147		16	56	0	0	0	0.003163	0	16	56		
PROX1	5629	broad.mit.edu	37	1	214185050	214185050	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:214185050G>A	ENST00000366958.4	+	4	2628	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PROX1_ENST00000435016.1_Missense_Mutation_p.D674N|PROX1_ENST00000261454.4_Missense_Mutation_p.D674N|PROX1_ENST00000498508.2_Missense_Mutation_p.D674N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	674	Prospero-like.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TAAAGCAAATGACTTTGAGGT	0.368																																						uc001hkh.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(2020-2022)GAC>AAC		prospero homeobox 1							126.0	117.0	120.0					1																	214185050		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214185050G>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.2020G>A	1.37:g.214185050G>A	ENSP00000355925:p.Asp674Asn						p.D674N	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	4	2292	+			674			Prospero-like.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.2020G>A	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394204	0.96009	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.73	5.73	0.89815	Homeo-prospero domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.72859	0.3513	M	0.81497	2.545	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.74562	-0.3624	10	0.72032	D	0.01	-6.7837	20.2602	0.98440	0.0:0.0:1.0:0.0	.	674	Q92786	PROX1_HUMAN	N	246;674;674;674;674	ENSP00000420283:D674N;ENSP00000355925:D674N;ENSP00000400694:D674N;ENSP00000261454:D674N	ENSP00000261454:D674N	D	+	1	0	PROX1	212251673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	GAC		0.368	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6		NM_002763		46	60	0	0	0	0.010771	0	46	60		
TP53BP2	7159	broad.mit.edu	37	1	223994610	223994610	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:223994610G>A	ENST00000343537.7	-	5	703	c.412C>T	c.(412-414)Cag>Tag	p.Q138*	TP53BP2_ENST00000391878.2_Nonsense_Mutation_p.Q9*	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	132	Gln-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCCATTTCCTGAAGTTCAGCA	0.408																																						uc010pvb.1		NaN																	0				ovary(2)|lung(1)	3						c.(412-414)CAG>TAG		tumor protein p53 binding protein, 2 isoform 1							153.0	147.0	149.0					1																	223994610		2203	4300	6503	SO:0001587	stop_gained	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223994610G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.412C>T	1.37:g.223994610G>A	ENSP00000341957:p.Gln138*					TP53BP2_uc001hod.2_Nonsense_Mutation_p.Q9*	p.Q138*	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	5	704	-			132			Gln-rich.		B4DG66|Q12892|Q86X75|Q96KQ3	Nonsense_Mutation	SNP	ENST00000343537.7	37	c.412C>T	CCDS44319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.934184|8.934184	0.99008|0.99008	.|.	.|.	ENSG00000143514|ENSG00000143514	ENST00000391878;ENST00000343537|ENST00000494100	.|.	.|.	.|.	5.13|5.13	4.2|4.2	0.49525|0.49525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.70535	.|0.3235	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70107	.|-0.4963	.|4	0.66056|.	D|.	0.02|.	.|.	15.2239|15.2239	0.73336|0.73336	0.0:0.0:0.8581:0.1419|0.0:0.0:0.8581:0.1419	.|.	.|.	.|.	.|.	X|L	9;138|71	.|.	ENSP00000341957:Q138X|.	Q|S	-|-	1|2	0|0	TP53BP2|TP53BP2	222061233|222061233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.269000|9.269000	0.95684|0.95684	1.263000|1.263000	0.44181|0.44181	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.408	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426		36	76	0	0	0	0.003755	0	36	76		
WDR26	80232	broad.mit.edu	37	1	224599169	224599169	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:224599169C>G	ENST00000414423.2	-	7	1311	c.1118G>C	c.(1117-1119)gGa>gCa	p.G373A	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.G226A	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	373						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATCTTTTGATCCTGTTGCTAG	0.368																																						uc001hop.3		NaN																	0					0						c.(676-678)GGA>GCA		WD repeat domain 26 isoform a							149.0	128.0	135.0					1																	224599169		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224599169C>G	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1118G>C	1.37:g.224599169C>G	ENSP00000408108:p.Gly373Ala					WDR26_uc001hoq.3_Missense_Mutation_p.G210A|WDR26_uc010pvh.1_5'UTR	p.G226A	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	7	1043	-			373			WD 1.		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.677G>C	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.290192|4.290192	0.80914|0.80914	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.66995|.	-0.24;-0.24|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57577|0.57577	0.2063|0.2063	N|N	0.26162|0.26162	0.8|0.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.51100|0.51100	-0.8748|-0.8748	10|5	0.24483|.	T|.	0.36|.	.|.	19.5578|19.5578	0.95358|0.95358	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	357|.	Q9H7D7-2|.	.|.	A|S	373;226|6	ENSP00000408108:G373A;ENSP00000295024:G226A|.	ENSP00000295024:G226A|.	G|R	-|-	2|3	0|2	WDR26|WDR26	222665792|222665792	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.776000|7.776000	0.85560|0.85560	2.695000|2.695000	0.91970|0.91970	0.563000|0.563000	0.77884|0.77884	GGA|AGG		0.368	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2		NM_025160		5	68	0	0	0	0.000602	0	5	68		
PCNXL2	80003	broad.mit.edu	37	1	233120095	233120095	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:233120095G>T	ENST00000258229.9	-	34	6603	c.6369C>A	c.(6367-6369)ggC>ggA	p.G2123G	PCNXL2_ENST00000344698.2_3'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2123						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TGTCGTCCAGGCCCATGTCCT	0.667																																						uc001hvl.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(6367-6369)GGC>GGA		pecanex-like 2							32.0	37.0	35.0					1																	233120095		2114	4242	6356	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233120095G>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.6369C>A	1.37:g.233120095G>T						PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_RNA	p.G2123G	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			34	6604	-		all_cancers(173;0.0347)|Prostate(94;0.137)	2123					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.6369C>A	CCDS44335.1																																																																																				0.667	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801		4	25	1	0	0.00024832	0.009096	0.000263429	4	25		
FH	2271	broad.mit.edu	37	1	241665791	241665791	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:241665791G>T	ENST00000366560.3	-	8	1226	c.1188C>A	c.(1186-1188)gtC>gtA	p.V396V		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	396					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGCTGCCTCCGACAGTGACAG	0.413			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2		NaN	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			0				lung(3)|ovary(1)|skin(1)	5						c.(1186-1188)GTC>GTA		fumarate hydratase precursor							90.0	76.0	80.0					1																	241665791		2203	4300	6503	SO:0001819	synonymous_variant	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665791G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1188C>A	1.37:g.241665791G>T							p.V396V	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1220	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	396					B1ANK7	Silent	SNP	ENST00000366560.3	37	c.1188C>A	CCDS1617.1																																																																																				0.413	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1		NM_000143		15	60	1	0	2.32078e-09	0.003163	2.67424e-09	15	60		
CHML	1122	broad.mit.edu	37	1	241798263	241798263	+	Missense_Mutation	SNP	C	C	T	rs148967774		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr1:241798263C>T	ENST00000366553.1	-	1	969	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	269					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTTTCCTTCCCGAAATGCAAG	0.353																																						uc001hzd.2		NaN																	0		p.R269R(1)		ovary(4)|skin(2)	6						c.(805-807)CGG>CAG		choroideremia-like Rab escort protein 2		C	GLN/ARG,	1,4405	2.1+/-5.4	0,1,2202	49.0	48.0	49.0		806,	0.8	0.4	1	dbSNP_134	49	0,8598		0,0,4299	no	missense,intron	CHML,OPN3	NM_001821.3,NM_014322.2	43,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,	269/657,	241798263	1,13003	2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798263C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.806G>A	1.37:g.241798263C>T	ENSP00000355511:p.Arg269Gln					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.R269Q	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	970	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	269					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.806G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682888	0.29872	2.27E-4	0.0	ENSG00000203668	ENST00000366553	D	0.85556	-2.0	4.87	0.75	0.18387	.	0.390291	0.26203	U	0.025740	T	0.64929	0.2643	.	.	.	0.21220	N	0.999754	B	0.33238	0.403	B	0.26094	0.066	T	0.52290	-0.8595	9	0.16896	T	0.51	.	3.8701	0.09033	0.0:0.4601:0.1767:0.3632	.	269	P26374	RAE2_HUMAN	Q	269	ENSP00000355511:R269Q	ENSP00000355511:R269Q	R	-	2	0	CHML	239864886	0.600000	0.26899	0.411000	0.26484	0.979000	0.70002	0.952000	0.29149	0.309000	0.22966	0.655000	0.94253	CGG		0.353	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1		NM_001821		15	68	0	0	0	0.00245	0	15	68		
ECHDC3	79746	broad.mit.edu	37	10	11789413	11789413	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:11789413A>C	ENST00000379215.4	+	2	447	c.236A>C	c.(235-237)cAa>cCa	p.Q79P	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	79						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						AAGTCTCTCCAAAGTGACATT	0.438																																						uc001ikw.3		NaN																	0					0						c.(235-237)CAA>CCA		enoyl Coenzyme A hydratase domain containing 3							181.0	149.0	160.0					10																	11789413		2203	4300	6503	SO:0001583	missense	79746					mitochondrion	catalytic activity	g.chr10:11789413A>C	AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.236A>C	10.37:g.11789413A>C	ENSP00000368517:p.Gln79Pro					ECHDC3_uc009xix.2_5'UTR	p.Q79P	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN			2	456	+			79					Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Missense_Mutation	SNP	ENST00000379215.4	37	c.236A>C	CCDS7084.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762139	0.31228	.	.	ENSG00000134463	ENST00000379215;ENST00000420401;ENST00000422887	T;T;T	0.74315	-0.29;-0.29;-0.83	5.53	-0.598	0.11649	Crotonase, core (1);	0.272309	0.34002	N	0.004343	T	0.78817	0.4343	M	0.76938	2.355	0.23515	N	0.997511	B	0.24043	0.096	P	0.44422	0.449	T	0.71810	-0.4480	10	0.30854	T	0.27	.	11.0681	0.47987	0.598:0.0:0.402:0.0	.	79	Q96DC8	ECHD3_HUMAN	P	79;132;6	ENSP00000368517:Q79P;ENSP00000405584:Q132P;ENSP00000398429:Q6P	ENSP00000368517:Q79P	Q	+	2	0	ECHDC3	11829419	0.365000	0.25006	0.208000	0.23602	0.009000	0.06853	1.519000	0.35888	0.078000	0.16900	-0.411000	0.06167	CAA		0.438	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1		NM_024693		17	99	0	0	0	0.014323	0	17	99		
ANKRD26	22852	broad.mit.edu	37	10	27389109	27389109	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:27389109C>G	ENST00000376087.4	-	1	312	c.147G>C	c.(145-147)aaG>aaC	p.K49N	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K49N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	49					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTTTGTGGATCTTGCCGAGAT	0.622																																						uc001ith.2		NaN																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(145-147)AAG>AAC		ankyrin repeat domain 26							87.0	96.0	93.0					10																	27389109		2007	4167	6174	SO:0001583	missense	22852					centrosome		g.chr10:27389109C>G	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.147G>C	10.37:g.27389109C>G	ENSP00000365255:p.Lys49Asn					ANKRD26_uc009xku.1_Missense_Mutation_p.K49N	p.K49N	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			1	319	-			49			ANK 1.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.147G>C	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119478	0.77323	.	.	ENSG00000107890	ENST00000376087;ENST00000436985	T;T	0.52983	0.64;0.64	4.46	2.57	0.30868	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.62962	0.2471	M	0.79614	2.46	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.66979	0.948;0.888	T	0.62666	-0.6806	9	0.72032	D	0.01	.	7.3718	0.26806	0.0:0.7936:0.0:0.2064	.	49;49	Q9UPS8-3;Q9UPS8	.;ANR26_HUMAN	N	49	ENSP00000365255:K49N;ENSP00000405112:K49N	ENSP00000365255:K49N	K	-	3	2	ANKRD26	27429115	1.000000	0.71417	0.719000	0.30619	0.971000	0.66376	1.529000	0.35996	0.600000	0.29862	0.491000	0.48974	AAG		0.622	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1				32	76	0	0	0	0.013726	0	32	76		
ZNF37A	7587	broad.mit.edu	37	10	38407718	38407718	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:38407718G>C	ENST00000361085.5	+	7	1984	c.1639G>C	c.(1639-1641)Ggg>Cgg	p.G547R	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G547R	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACACTTGGGGAGAAACCC	0.363																																						uc001izk.2		NaN																	0				breast(1)	1						c.(1639-1641)GGG>CGG		zinc finger protein 37a							43.0	44.0	43.0					10																	38407718		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407718G>C	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1639G>C	10.37:g.38407718G>C	ENSP00000354377:p.Gly547Arg					ZNF37A_uc001izl.2_Missense_Mutation_p.G547R|ZNF37A_uc001izm.2_Missense_Mutation_p.G547R	p.G547R	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	2458	+			547					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1639G>C	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695032	0.30052	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07567	3.18;3.18	2.01	1.07	0.20283	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08714	0.0216	L	0.58354	1.805	0.34402	D	0.695408	P	0.49185	0.92	B	0.40602	0.334	T	0.31475	-0.9942	9	0.66056	D	0.02	.	6.2603	0.20897	0.1715:0.0:0.8285:0.0	.	547	P17032	ZN37A_HUMAN	R	547	ENSP00000329141:G547R;ENSP00000354377:G547R	ENSP00000329141:G547R	G	+	1	0	ZNF37A	38447724	0.001000	0.12720	0.328000	0.25416	0.380000	0.30137	0.943000	0.29030	0.185000	0.20105	-0.218000	0.12543	GGG		0.363	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2		NM_003421		9	38	0	0	0	0.004482	0	9	38		
CHAT	1103	broad.mit.edu	37	10	50854654	50854654	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:50854654C>G	ENST00000337653.2	+	8	1368	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L	CHAT_ENST00000339797.1_Silent_p.L287L|CHAT_ENST00000395562.2_Silent_p.L323L|CHAT_ENST00000455728.2_Silent_p.L287L|CHAT_ENST00000395559.2_Silent_p.L287L|CHAT_ENST00000351556.3_Silent_p.L287L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	405					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	ACAGGGCACTCCAGCTCCTTC	0.637																																						uc001jhz.2		NaN																	0				central_nervous_system(3)	3						c.(1213-1215)CTC>CTG		choline acetyltransferase isoform 2	Choline(DB00122)						88.0	76.0	80.0					10																	50854654		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50854654C>G	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1215C>G	10.37:g.50854654C>G						CHAT_uc001jhv.1_Silent_p.L287L|CHAT_uc001jhx.1_Silent_p.L287L|CHAT_uc001jhy.1_Silent_p.L287L|CHAT_uc001jia.2_Silent_p.L287L|CHAT_uc010qgs.1_Silent_p.L287L	p.L405L	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	8	1368	+		all_neural(218;0.107)	405					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1215C>G	CCDS7232.1																																																																																				0.637	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1		NM_020549		14	43	0	0	0	0.001855	0	14	43		
PRKG1	5592	broad.mit.edu	37	10	54048534	54048534	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:54048534G>C	ENST00000401604.2	+	15	1907	c.1713G>C	c.(1711-1713)ttG>ttC	p.L571F	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L289F|PRKG1_ENST00000373980.4_Missense_Mutation_p.L586F|PRKG1_ENST00000373985.1_Missense_Mutation_p.L559F			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	571	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACATCATATTGAGGGGGATTG	0.343																																						uc001jjm.2		NaN																	0				lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(1711-1713)TTG>TTC		protein kinase, cGMP-dependent, type I isoform							98.0	101.0	100.0					10																	54048534		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54048534G>C		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1713G>C	10.37:g.54048534G>C	ENSP00000384200:p.Leu571Phe					PRKG1_uc001jjo.2_Missense_Mutation_p.L586F|PRKG1_uc009xow.1_Missense_Mutation_p.L289F|uc001jjq.1_Intron	p.L571F	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	15	1907	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	571			Protein kinase.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1713G>C	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086087	0.55861	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.69435	-0.4;-0.4;-0.4	5.26	3.41	0.39046	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.79179	0.4402	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.982;0.999;0.999	T	0.78633	-0.2128	10	0.87932	D	0	-9.7268	8.7827	0.34800	0.2867:0.0:0.7133:0.0	.	289;586;571	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	F	571;559;586;289;183	ENSP00000384200:L571F;ENSP00000363097:L559F;ENSP00000363092:L586F	ENSP00000327642:L289F	L	+	3	2	PRKG1	53718540	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	2.141000	0.42168	0.605000	0.29947	-0.793000	0.03317	TTG		0.343	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					5	64	0	0	0	0.000602	0	5	64		
PCDH15	65217	broad.mit.edu	37	10	56138648	56138648	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:56138648G>C	ENST00000320301.6	-	4	606	c.212C>G	c.(211-213)cCc>cGc	p.P71R	PCDH15_ENST00000395430.1_Missense_Mutation_p.P71R|PCDH15_ENST00000373965.2_Missense_Mutation_p.P71R|PCDH15_ENST00000414778.1_Missense_Mutation_p.P76R|PCDH15_ENST00000395446.1_Missense_Mutation_p.P71R|PCDH15_ENST00000361849.3_Missense_Mutation_p.P71R|PCDH15_ENST00000373955.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395438.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395433.1_Missense_Mutation_p.P49R|PCDH15_ENST00000395440.1_Missense_Mutation_p.P71R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.P71R|PCDH15_ENST00000437009.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395432.2_Missense_Mutation_p.P71R|PCDH15_ENST00000395442.1_Missense_Mutation_p.P71R|PCDH15_ENST00000373957.3_Missense_Mutation_p.P49R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTATGGTGGGGTCTGGTCC	0.423										HNSCC(58;0.16)																												uc001jju.1		NaN																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(211-213)CCC>CGC		protocadherin 15 isoform CD1-4 precursor							156.0	164.0	161.0					10																	56138648		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56138648G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.212C>G	10.37:g.56138648G>C	ENSP00000322604:p.Pro71Arg	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P76R|PCDH15_uc010qhr.1_Missense_Mutation_p.P71R|PCDH15_uc010qhs.1_Missense_Mutation_p.P76R|PCDH15_uc010qht.1_Missense_Mutation_p.P71R|PCDH15_uc010qhu.1_Missense_Mutation_p.P71R|PCDH15_uc001jjv.1_Missense_Mutation_p.P49R|PCDH15_uc010qhv.1_Missense_Mutation_p.P71R|PCDH15_uc010qhw.1_Missense_Mutation_p.P71R|PCDH15_uc010qhx.1_Missense_Mutation_p.P71R|PCDH15_uc010qhy.1_Missense_Mutation_p.P76R|PCDH15_uc010qhz.1_Missense_Mutation_p.P71R|PCDH15_uc010qia.1_Missense_Mutation_p.P49R|PCDH15_uc010qib.1_Missense_Mutation_p.P49R|PCDH15_uc001jjw.2_Missense_Mutation_p.P71R	p.P71R	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			4	607	-		Melanoma(3;0.117)|Lung SC(717;0.238)	71			Cadherin 1.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.212C>G	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890915	0.33348	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56444	0.59;0.64;0.58;0.56;0.58;0.82;0.72;0.57;0.55;0.59;0.46;0.56;0.56;0.57;0.65;1.03	5.3	5.3	0.74995	Cadherin (1);	.	.	.	.	T	0.52075	0.1712	N	0.05124	-0.11	0.34003	D	0.650556	D;B;B;B;B;B;D;B;B;B;B;B;B;B;B	0.67145	0.996;0.089;0.041;0.041;0.015;0.089;0.996;0.002;0.014;0.014;0.002;0.004;0.002;0.011;0.041	D;B;B;B;B;B;D;B;B;B;B;B;B;B;B	0.70487	0.969;0.019;0.019;0.019;0.019;0.019;0.969;0.006;0.013;0.013;0.01;0.01;0.008;0.012;0.019	T	0.60606	-0.7230	9	0.22109	T	0.4	.	18.5421	0.91031	0.0:0.0:1.0:0.0	.	49;71;71;76;71;71;71;71;71;71;71;76;71;49;71	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	71;76;71;71;71;71;71;71;71;71;49;49;71;71;76;71;71;71	ENSP00000363076:P71R;ENSP00000410304:P76R;ENSP00000378826:P71R;ENSP00000378832:P71R;ENSP00000378833:P71R;ENSP00000378829:P71R;ENSP00000378827:P71R;ENSP00000378820:P71R;ENSP00000354950:P71R;ENSP00000378821:P49R;ENSP00000363068:P49R;ENSP00000322604:P71R;ENSP00000378818:P71R;ENSP00000412628:P71R;ENSP00000363066:P71R;ENSP00000394465:P71R	ENSP00000322604:P71R	P	-	2	0	PCDH15	55808654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.799000	0.69101	2.504000	0.84457	0.643000	0.83706	CCC		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2		NM_033056		8	149	0	0	0	0.00308	0	8	149		
ANK3	288	broad.mit.edu	37	10	61832871	61832871	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:61832871C>T	ENST00000280772.2	-	37	7959	c.7768G>A	c.(7768-7770)Gaa>Aaa	p.E2590K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2590					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTGACACTTCAGTCAGTTTT	0.418																																						uc001jky.2		NaN																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(7768-7770)GAA>AAA		ankyrin 3 isoform 1							112.0	105.0	107.0					10																	61832871		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61832871C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7768G>A	10.37:g.61832871C>T	ENSP00000280772:p.Glu2590Lys					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.E2590K	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	7960	-			2590					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.7768G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821868	0.71028	.	.	ENSG00000151150	ENST00000280772	T	0.73047	-0.71	5.66	4.75	0.60458	.	0.162144	0.28871	N	0.013870	T	0.81370	0.4808	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.81645	-0.0839	10	0.45353	T	0.12	.	16.701	0.85349	0.0:0.8704:0.1295:0.0	.	2590	Q12955	ANK3_HUMAN	K	2590	ENSP00000280772:E2590K	ENSP00000280772:E2590K	E	-	1	0	ANK3	61502877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.967000	0.63722	1.375000	0.46248	0.462000	0.41574	GAA		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987		28	81	0	0	0	0.004656	0	28	81		
TET1	80312	broad.mit.edu	37	10	70405499	70405499	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:70405499C>G	ENST00000373644.4	+	4	3222	c.3013C>G	c.(3013-3015)Ctt>Gtt	p.L1005V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1005					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTCATTATCTCTTTTTATACC	0.338																																						uc001jok.3		NaN																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(3013-3015)CTT>GTT		CXXC finger 6							85.0	83.0	84.0					10																	70405499		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70405499C>G	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3013C>G	10.37:g.70405499C>G	ENSP00000362748:p.Leu1005Val						p.L1005V	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			4	3518	+			1005					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.3013C>G	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	1.837	-0.468402	0.04445	.	.	ENSG00000138336	ENST00000373644	T	0.06528	3.29	5.42	-3.15	0.05233	.	11.963500	0.00166	N	0.000004	T	0.03434	0.0099	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.38415	-0.9662	10	0.09084	T	0.74	.	5.9496	0.19237	0.1066:0.181:0.5571:0.1554	.	1005	Q8NFU7	TET1_HUMAN	V	1005	ENSP00000362748:L1005V	ENSP00000362748:L1005V	L	+	1	0	TET1	70075505	0.003000	0.15002	0.004000	0.12327	0.360000	0.29518	0.026000	0.13599	-0.237000	0.09739	0.563000	0.77884	CTT		0.338	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1		NM_030625		6	62	0	0	0	0.001168	0	6	62		
GRID1	2894	broad.mit.edu	37	10	88123752	88123752	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:88123752T>C	ENST00000327946.7	-	2	266	c.181A>G	c.(181-183)Acc>Gcc	p.T61A		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	61					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ATGGAGTAGGTGATCTTCTCG	0.602										Multiple Myeloma(13;0.14)																												uc001kdl.1		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(181-183)ACC>GCC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						315.0	196.0	236.0					10																	88123752		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:88123752T>C	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.181A>G	10.37:g.88123752T>C	ENSP00000330148:p.Thr61Ala	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.T61A	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			2	282	-			61			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.181A>G	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	T	30	5.052740	0.93793	.	.	ENSG00000182771	ENST00000327946	D	0.83591	-1.74	4.96	4.96	0.65561	Extracellular ligand-binding receptor (1);	0.079373	0.48767	D	0.000175	D	0.85995	0.5827	L	0.34521	1.04	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	D	0.87557	0.2469	10	0.72032	D	0.01	.	13.8086	0.63248	0.0:0.0:0.0:1.0	.	61	Q9ULK0	GRID1_HUMAN	A	61	ENSP00000330148:T61A	ENSP00000330148:T61A	T	-	1	0	GRID1	88113732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.980000	0.88113	1.856000	0.53863	0.397000	0.26171	ACC		0.602	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3		XM_043613		8	37	0	0	0	0.00308	0	8	37		
ZNF518A	9849	broad.mit.edu	37	10	97919613	97919613	+	RNA	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr10:97919613G>C	ENST00000534948.1	+	0	4391							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CATCTAATCAGATTATAGGAG	0.373																																						uc001klp.2		NaN																	0				ovary(1)	1						c.(3532-3534)CAG>CAC		zinc finger protein 518							100.0	102.0	101.0					10																	97919613		1893	4109	6002			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97919613G>C	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97919613G>C						ZNF518A_uc001klo.1_Missense_Mutation_p.Q648H|ZNF518A_uc001klq.2_Missense_Mutation_p.Q1178H|ZNF518A_uc001klr.2_Missense_Mutation_p.Q1178H	p.Q1178H	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	4391	+		Colorectal(252;0.0815)	1178					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.3534G>C																																																																																					0.373	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript			NM_014803		11	54	0	0	0	0.010729	0	11	54		
MUC5AC	4586	broad.mit.edu	37	11	1151641	1151641	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:1151641G>C	ENST00000356191.2	+	1	15	c.15G>C	c.(13-15)cgG>cgC	p.R5R				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	5					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GTGTTGGCCGGAGGAAGCTGG	0.662																																						uc009ycr.1		NaN																	0					0						c.(13-15)CGG>CGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							10.0	11.0	10.0					11																	1151641		853	1980	2833	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1151641G>C	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.15G>C	11.37:g.1151641G>C							p.R5R	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	2	141	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	Error:Variant_position_missing_in_Q9HC84_after_alignment					O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Silent	SNP	ENST00000356191.2	37	c.15G>C																																																																																					0.662	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_001130382		3	3	0	0	0	0.004672	0	3	3		
PLEKHA7	144100	broad.mit.edu	37	11	16892712	16892712	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:16892712G>C	ENST00000355661.3	-	4	249	c.239C>G	c.(238-240)aCa>aGa	p.T80R	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T80R|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T80R			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	80	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCTGAATGCTGTGGTCTGCTG	0.428																																						uc001mmo.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(238-240)ACA>AGA		pleckstrin homology domain containing, family A							120.0	118.0	118.0					11																	16892712		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16892712G>C	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.239C>G	11.37:g.16892712G>C	ENSP00000347883:p.Thr80Arg					PLEKHA7_uc010rcu.1_Missense_Mutation_p.T80R	p.T80R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			4	254	-			80			WW 2.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.239C>G	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382299	0.82792	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.19394	2.15;2.18;2.18	6.03	6.03	0.97812	WW/Rsp5/WWP (5);	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	M	0.88450	2.955	0.54753	D	0.999984	D;D	0.89917	1.0;0.999	D;D	0.80764	0.974;0.994	T	0.60177	-0.7314	10	0.72032	D	0.01	-12.6549	17.4736	0.87653	0.0:0.0:1.0:0.0	.	80;80	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	R	80	ENSP00000435389:T80R;ENSP00000347883:T80R;ENSP00000416895:T80R	ENSP00000347883:T80R	T	-	2	0	PLEKHA7	16849288	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.634000	0.83273	2.861000	0.98227	0.655000	0.94253	ACA		0.428	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058		6	32	0	0	0	0.001984	0	6	32		
WT1	7490	broad.mit.edu	37	11	32456366	32456366	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:32456366G>A	ENST00000332351.3	-	1	810	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	WT1-AS_ENST00000525436.1_RNA|WT1_ENST00000448076.3_Missense_Mutation_p.R176C|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000494911.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	108					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCCCGTAGCGACAGGCTCCG	0.692			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													uc001mtn.1		NaN	yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	D|Mis|N|F|S	Wilms tumour 1 gene			O	EWSR1	Wilms	Wilms|desmoplastic small round cell tumor	EWSR1/WT1(231)	0				haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687						c.(526-528)CGC>TGC		Wilms tumor 1 isoform D							18.0	19.0	19.0					11																	32456366		2197	4292	6489	SO:0001583	missense	7490	Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32456366G>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.526C>T	11.37:g.32456366G>A	ENSP00000331327:p.Arg176Cys					WT1_uc001mto.1_Missense_Mutation_p.R176C|WT1_uc001mtp.1_Missense_Mutation_p.R176C|WT1_uc001mtq.1_Missense_Mutation_p.R176C|WT1_uc009yjs.1_RNA|WIT1_uc010rec.1_5'Flank|WIT1_uc010red.1_5'Flank|WIT1_uc010ree.1_5'Flank	p.R176C	NM_024426	NP_077744	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		1	722	-	Breast(20;0.247)		108					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000332351.3	37	c.526C>T	CCDS7878.2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183794	0.78677	.	.	ENSG00000184937	ENST00000332351;ENST00000452863;ENST00000448076	D;D;D	0.89343	-2.5;-2.5;-2.5	3.24	3.24	0.37175	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.64402	U	0.000002	D	0.92136	0.7507	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.92806	0.6260	10	0.87932	D	0	.	13.1469	0.59467	0.0:0.0:1.0:0.0	.	181;108;181	P19544-8;P19544;P19544-7	.;WT1_HUMAN;.	C	176	ENSP00000331327:R176C;ENSP00000415516:R176C;ENSP00000413452:R176C	ENSP00000331327:R176C	R	-	1	0	WT1	32412942	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.229000	0.58625	1.795000	0.52594	0.462000	0.41574	CGC		0.692	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000095436.2		NM_000378		6	18	0	0	0	0.001168	0	6	18		
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:46771875G>C	ENST00000529230.1	-	42	5699	c.5653C>G	c.(5653-5655)Cgg>Ggg	p.R1885G	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825G|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892G|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1885					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAATCACCCGAAGGCCTCTT	0.413																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NaN																	0				ovary(1)|skin(1)	2						c.(5653-5655)CGG>GGG		colonic and hepatic tumor over-expressed protein							110.0	106.0	107.0					11																	46771875		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46771875G>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5653C>G	11.37:g.46771875G>C	ENSP00000432768:p.Arg1885Gly					CKAP5_uc009ylg.1_Missense_Mutation_p.R1778G|CKAP5_uc001ndj.1_Missense_Mutation_p.R1825G|CKAP5_uc001ndh.1_Missense_Mutation_p.R814G	p.R1885G	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			42	5763	-			1885					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.5653C>G	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.19|19.19	3.779522|3.779522	0.70107|0.70107	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558|ENST00000525896	T;T;T;T|.	0.48522|.	0.83;0.83;0.81;0.81|.	5.58|5.58	4.65|4.65	0.58169|0.58169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71702|0.71702	0.3371|0.3371	M|M	0.70275|0.70275	2.135|2.135	0.53688|0.53688	D|D	0.99997|0.99997	D;D;D|.	0.71674|.	0.998;0.996;0.993|.	D;D;D|.	0.79108|.	0.94;0.992;0.982|.	T|T	0.71777|0.71777	-0.4490|-0.4490	10|5	0.46703|.	T|.	0.11|.	-20.2111|-20.2111	13.4371|13.4371	0.61090|0.61090	0.0:0.0:0.7143:0.2857|0.0:0.0:0.7143:0.2857	.|.	1892;1825;1885|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	G|W	1885;1892;1825;1825|123	ENSP00000432768:R1885G;ENSP00000395302:R1892G;ENSP00000310227:R1825G;ENSP00000346566:R1825G|.	ENSP00000310227:R1825G|.	R|S	-|-	1|2	2|0	CKAP5|CKAP5	46728451|46728451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.290000|4.290000	0.59019|0.59019	1.336000|1.336000	0.45506|0.45506	0.549000|0.549000	0.68633|0.68633	CGG|TCG		0.413	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1		NM_014756		18	69	0	0	0	0.006122	0	18	69		
P2RX3	5024	broad.mit.edu	37	11	57118338	57118338	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:57118338G>A	ENST00000263314.2	+	8	842	c.808G>A	c.(808-810)Gag>Aag	p.E270K		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	270					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CAGCGTTTCTGAGAAAAGCAG	0.552																																						uc001nju.2		NaN																	0					0						c.(808-810)GAG>AAG		purinergic receptor P2X3							89.0	79.0	83.0					11																	57118338		2201	4296	6497	SO:0001583	missense	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57118338G>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.808G>A	11.37:g.57118338G>A	ENSP00000263314:p.Glu270Lys						p.E270K	NM_002559	NP_002550	P56373	P2RX3_HUMAN			8	884	+			270			Extracellular (Potential).		Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.808G>A	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239932	0.22711	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04156	3.69	5.73	3.84	0.44239	.	0.317042	0.34046	N	0.004305	T	0.04634	0.0126	L	0.27053	0.805	0.37156	D	0.902366	B	0.22541	0.071	B	0.33254	0.16	T	0.19647	-1.0299	10	0.06625	T	0.88	-23.589	13.71	0.62663	0.0:0.3327:0.6673:0.0	.	270	P56373	P2RX3_HUMAN	K	270	ENSP00000263314:E270K	ENSP00000263314:E270K	E	+	1	0	P2RX3	56874914	0.949000	0.32298	0.979000	0.43373	0.961000	0.63080	1.585000	0.36600	0.749000	0.32854	-0.181000	0.13052	GAG		0.552	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1		NM_002559		11	36	0	0	0	0.010729	0	11	36		
MYRF	745	broad.mit.edu	37	11	61543557	61543557	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:61543557C>T	ENST00000278836.5	+	9	1437	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	MYRF_ENST00000389602.4_5'Flank|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.I438I|MYRF_ENST00000327797.1_Silent_p.I72I	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	447					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCATTAACATCGAGCAGTCCC	0.622																																						uc001nsc.1		NaN																	0				breast(1)	1						c.(1339-1341)ATC>ATT		myelin gene regulatory factor isoform 2							102.0	85.0	91.0					11																	61543557		2202	4299	6501	SO:0001819	synonymous_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61543557C>T		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1341C>T	11.37:g.61543557C>T						C11orf9_uc001nse.1_Silent_p.I438I|C11orf9_uc010rll.1_5'Flank	p.I447I	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			9	1437	+			447			NDT80.		O43582|Q9P1Q6	Silent	SNP	ENST00000278836.5	37	c.1341C>T	CCDS44622.1																																																																																				0.622	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279		5	64	0	0	0	0.000602	0	5	64		
AHNAK	79026	broad.mit.edu	37	11	62287326	62287326	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:62287326C>A	ENST00000378024.4	-	5	14837	c.14563G>T	c.(14563-14565)Gac>Tac	p.D4855Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4855					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAATCCAGGTCAACATCAGGT	0.433																																						uc001ntl.2		NaN																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14563-14565)GAC>TAC		AHNAK nucleoprotein isoform 1							94.0	91.0	92.0					11																	62287326		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287326C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14563G>T	11.37:g.62287326C>A	ENSP00000367263:p.Asp4855Tyr					AHNAK_uc001ntk.1_Intron	p.D4855Y	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	14863	-		Melanoma(852;0.155)	4855					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14563G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901713	0.52227	.	.	ENSG00000124942	ENST00000378024	T	0.02158	4.42	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000002	T	0.15349	0.0370	M	0.90082	3.085	0.39576	D	0.969361	D	0.76494	0.999	D	0.85130	0.997	T	0.01065	-1.1463	10	0.66056	D	0.02	-14.1604	12.8447	0.57823	0.0:0.8356:0.1644:0.0	.	4855	Q09666	AHNK_HUMAN	Y	4855	ENSP00000367263:D4855Y	ENSP00000367263:D4855Y	D	-	1	0	AHNAK	62043902	0.946000	0.32159	0.996000	0.52242	0.951000	0.60555	3.552000	0.53705	2.114000	0.64651	0.478000	0.44815	GAC		0.433	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060		24	91	1	0	2.89027e-11	0.014323	3.39882e-11	24	91		
VEGFB	7423	broad.mit.edu	37	11	64004936	64004936	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:64004936G>A	ENST00000309422.2	+	6	751	c.455G>A	c.(454-456)gGc>gAc	p.G152D	VEGFB_ENST00000426086.2_Intron	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	152					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TCTGTTCCGGGCTGGGACTCT	0.682																																						uc001nyw.2		NaN																	0					0						c.(454-456)GGC>GAC		vascular endothelial growth factor B precursor							28.0	30.0	29.0					11																	64004936		2200	4296	6496	SO:0001583	missense	7423				anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	g.chr11:64004936G>A	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.455G>A	11.37:g.64004936G>A	ENSP00000311127:p.Gly152Asp					VEGFB_uc001nyx.2_Intron	p.G152D	NM_003377	NP_003368	P49765	VEGFB_HUMAN			6	495	+			152					Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	c.455G>A	CCDS8062.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965034	0.74131	.	.	ENSG00000173511	ENST00000309422	.	.	.	4.08	4.08	0.47627	.	0.667463	0.12391	U	0.472964	T	0.27063	0.0663	N	0.08118	0	0.80722	D	1	P	0.47106	0.89	B	0.37550	0.253	T	0.12167	-1.0558	9	0.44086	T	0.13	-11.9455	12.5094	0.55999	0.0:0.0:1.0:0.0	.	152	P49765	VEGFB_HUMAN	D	152	.	ENSP00000311127:G152D	G	+	2	0	VEGFB	63761512	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.133000	0.50531	2.224000	0.72417	0.555000	0.69702	GGC		0.682	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396393.2		NM_003377		5	24	0	0	0	0.000602	0	5	24		
MRPL49	740	broad.mit.edu	37	11	64889260	64889260	+	5'Flank	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:64889260T>A	ENST00000279242.2	+	0	0				MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000531743.1_Missense_Mutation_p.E9V|FAU_ENST00000525297.1_Missense_Mutation_p.E9V|MRPL49_ENST00000531705.1_5'Flank|MRPL49_ENST00000526171.1_5'Flank|FAU_ENST00000527548.1_Missense_Mutation_p.E9V|FAU_ENST00000434372.2_Missense_Mutation_p.E9V|FAU_ENST00000529639.1_Missense_Mutation_p.E9V|FAU_ENST00000279259.3_Missense_Mutation_p.E9V|FAU_ENST00000529259.1_Missense_Mutation_p.E9V	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GGTGTGTAGCTCCTGGGCGCG	0.527																																						uc001ocx.2		NaN																	0					0						c.(25-27)GAG>GTG		ubiquitin-like protein fubi and ribosomal							78.0	68.0	71.0					11																	64889260		2201	4297	6498	SO:0001631	upstream_gene_variant	2197							g.chr11:64889260T>A		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608		11.37:g.64889260T>A	Exception_encountered					FAU_uc001ocy.1_Missense_Mutation_p.E9V|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank	p.E9V	NM_001997	NP_001988	P35544	UBIM_HUMAN			2	133	-			9					B2R4G6	Missense_Mutation	SNP	ENST00000279242.2	37	c.26A>T	CCDS8096.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.922346	0.73213	.	.	ENSG00000149806	ENST00000529639;ENST00000531743;ENST00000525297;ENST00000527548;ENST00000279259;ENST00000529259;ENST00000526555;ENST00000434372	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;0.74;-0.7;-0.7;-0.7;-0.7;-0.7	5.92	4.74	0.60224	Ubiquitin supergroup (1);Ubiquitin (1);	0.514123	0.23784	N	0.044590	T	0.71213	0.3313	M	0.66297	2.02	0.80722	D	1	B;B	0.32829	0.374;0.386	B;B	0.42087	0.278;0.375	T	0.74197	-0.3743	10	0.87932	D	0	-24.5213	6.8819	0.24179	0.0:0.084:0.1638:0.7522	.	9;9	E9PMS9;P35544	.;UBIM_HUMAN	V	9	ENSP00000435370:E9V;ENSP00000431822:E9V;ENSP00000436110:E9V;ENSP00000434440:E9V;ENSP00000279259:E9V;ENSP00000434680:E9V;ENSP00000433139:E9V;ENSP00000413848:E9V	ENSP00000279259:E9V	E	-	2	0	FAU	64645836	1.000000	0.71417	0.996000	0.52242	0.534000	0.34807	1.974000	0.40559	2.277000	0.76020	0.528000	0.53228	GAG		0.527	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1		NM_004927		5	42	0	0	0	0.000602	0	5	42		
ACY3	91703	broad.mit.edu	37	11	67412565	67412565	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:67412565C>G	ENST00000255082.3	-	6	755	c.585G>C	c.(583-585)atG>atC	p.M195I	ACY3_ENST00000529256.1_Missense_Mutation_p.M74I	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	195	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CCAGGGTCCTCATCCTTGAGA	0.612																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2		NaN																	0					0						c.(583-585)ATG>ATC		aspartoacylase 3	L-Aspartic Acid(DB00128)						100.0	111.0	107.0					11																	67412565		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67412565C>G	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.585G>C	11.37:g.67412565C>G	ENSP00000255082:p.Met195Ile						p.M195I	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			6	756	-			195						Missense_Mutation	SNP	ENST00000255082.3	37	c.585G>C	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858880	0.71834	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97710	-4.5;-4.5	3.91	3.91	0.45181	.	0.149625	0.53938	D	0.000048	D	0.97213	0.9089	M	0.79614	2.46	0.49389	D	0.999786	P	0.46277	0.875	P	0.45660	0.489	D	0.97051	0.9764	10	0.42905	T	0.14	-13.1298	15.1821	0.72968	0.0:1.0:0.0:0.0	.	195	Q96HD9	ACY3_HUMAN	I	195;74	ENSP00000255082:M195I;ENSP00000434270:M74I	ENSP00000255082:M195I	M	-	3	0	ACY3	67169141	1.000000	0.71417	0.596000	0.28811	0.750000	0.42670	4.966000	0.63715	2.217000	0.71921	0.561000	0.74099	ATG		0.612	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1		NM_080658		32	98	0	0	0	0.012213	0	32	98		
ACY3	91703	broad.mit.edu	37	11	67412598	67412598	+	Missense_Mutation	SNP	C	C	A	rs142720670		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:67412598C>A	ENST00000255082.3	-	6	722	c.552G>T	c.(550-552)caG>caT	p.Q184H	ACY3_ENST00000529256.1_Missense_Mutation_p.Q63H	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	184	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GCAGCACACCCTGTGGCTGGG	0.602																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.2		NaN																	0					0						c.(550-552)CAG>CAT		aspartoacylase 3	L-Aspartic Acid(DB00128)						65.0	74.0	71.0					11																	67412598		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67412598C>A	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.552G>T	11.37:g.67412598C>A	ENSP00000255082:p.Gln184His						p.Q184H	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			6	723	-			184						Missense_Mutation	SNP	ENST00000255082.3	37	c.552G>T	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	C	9.338	1.062216	0.19987	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97959	-4.63;-4.63	3.91	2.91	0.33838	.	0.296613	0.31495	N	0.007554	D	0.94185	0.8134	L	0.56199	1.76	0.46044	D	0.998833	P	0.49253	0.921	B	0.41571	0.36	D	0.90702	0.4621	10	0.12430	T	0.62	-11.8161	6.248	0.20830	0.1854:0.7101:0.0:0.1045	.	184	Q96HD9	ACY3_HUMAN	H	184;63	ENSP00000255082:Q184H;ENSP00000434270:Q63H	ENSP00000255082:Q184H	Q	-	3	2	ACY3	67169174	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	0.591000	0.23969	2.217000	0.71921	0.561000	0.74099	CAG		0.602	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1		NM_080658		24	82	1	0	1.10513e-12	0.014323	1.30725e-12	24	82		
IGHMBP2	3508	broad.mit.edu	37	11	68682376	68682376	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:68682376G>A	ENST00000255078.3	+	6	908	c.797G>A	c.(796-798)gGa>gAa	p.G266E	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	266	Leu-rich.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCGCCTGGGACACCCTGCC	0.612																																						uc001ook.1		NaN																	0					0						c.(796-798)GGA>GAA		immunoglobulin mu binding protein 2							95.0	88.0	90.0					11																	68682376		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68682376G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.797G>A	11.37:g.68682376G>A	ENSP00000255078:p.Gly266Glu					IGHMBP2_uc001ooj.1_RNA	p.G266E	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		6	899	+			266			Leu-rich.		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.797G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928905	0.73327	.	.	ENSG00000132740	ENST00000255078	D	0.85773	-2.03	3.71	3.71	0.42584	DEAD-like helicase (1);Helicase/UvrB domain (1);ATPase, AAA+ type, core (1);	0.117104	0.64402	D	0.000019	D	0.93654	0.7973	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95189	0.8306	10	0.87932	D	0	-11.9985	14.7755	0.69729	0.0:0.0:1.0:0.0	.	266	P38935	SMBP2_HUMAN	E	266	ENSP00000255078:G266E	ENSP00000255078:G266E	G	+	2	0	IGHMBP2	68438952	1.000000	0.71417	0.728000	0.30774	0.387000	0.30353	8.893000	0.92498	2.078000	0.62432	0.555000	0.69702	GGA		0.612	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1		NM_002180		10	64	0	0	0	0.008291	0	10	64		
MED17	9440	broad.mit.edu	37	11	93540715	93540715	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:93540715G>C	ENST00000251871.3	+	10	1785	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	500					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTGGAGTTGAGCAGATTCG	0.338																																						uc001pem.3		NaN																	0				ovary(1)	1						c.(1498-1500)GAG>CAG		mediator complex subunit 17							143.0	138.0	140.0					11																	93540715		2201	4298	6499	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93540715G>C	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1498G>C	11.37:g.93540715G>C	ENSP00000251871:p.Glu500Gln						p.E500Q	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			10	1773	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	500					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.1498G>C	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016783	0.54576	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	T	0.56941	0.43	5.74	5.74	0.90152	.	0.175951	0.64402	D	0.000009	T	0.46776	0.1410	L	0.34521	1.04	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.23190	-1.0195	10	0.35671	T	0.21	-19.414	20.2982	0.98569	0.0:0.0:1.0:0.0	.	500	Q9NVC6	MED17_HUMAN	Q	500;470	ENSP00000251871:E500Q	ENSP00000251871:E500Q	E	+	1	0	MED17	93180363	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.758000	0.85224	2.873000	0.98535	0.563000	0.77884	GAG		0.338	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2		NM_004268		21	53	0	0	0	0.014323	0	21	53		
MAML2	84441	broad.mit.edu	37	11	95712801	95712801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:95712801C>A	ENST00000524717.1	-	5	4066	c.2782G>T	c.(2782-2784)Gga>Tga	p.G928*		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	928					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G928*(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAACAGATCCAGCTCCAAAA	0.413			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1		NaN		Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - Nonsense(1)		lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(2782-2784)GGA>TGA		mastermind-like 2							215.0	190.0	198.0					11																	95712801		1951	4161	6112	SO:0001587	stop_gained	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712801C>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2782G>T	11.37:g.95712801C>A	ENSP00000434552:p.Gly928*						p.G928*	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			5	4067	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	928					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Nonsense_Mutation	SNP	ENST00000524717.1	37	c.2782G>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	49	15.375370	0.99831	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	.	.	.	5.3	4.39	0.52855	.	0.373466	0.24695	N	0.036354	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-1.0384	13.9856	0.64334	0.0:0.9267:0.0:0.0733	.	.	.	.	X	928	.	ENSP00000412394:G928X	G	-	1	0	MAML2	95352449	0.072000	0.21174	0.970000	0.41538	0.908000	0.53690	2.066000	0.41452	1.372000	0.46190	0.561000	0.74099	GGA		0.413	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1				12	62	1	0	5.50884e-06	0.013537	6.03564e-06	12	62		
ATM	472	broad.mit.edu	37	11	108192066	108192066	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:108192066A>G	ENST00000452508.2	+	46	6680	c.6491A>G	c.(6490-6492)gAg>gGg	p.E2164G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.E2164G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2164	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.		E -> K (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CGCAGCCTTGAGTCTGTGTAT	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0		p.E2164K(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(6490-6492)GAG>GGG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							161.0	149.0	153.0					11																	108192066		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108192066A>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6491A>G	11.37:g.108192066A>G	ENSP00000388058:p.Glu2164Gly	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.E2164G|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E816G|ATM_uc001pkg.1_Missense_Mutation_p.E521G	p.E2164G	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	45	6876	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2164		E -> K (in T-prolymphocytic leukemia).	FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.6491A>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	31	5.083831	0.94050	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73681	-0.77;-0.77	5.83	5.83	0.93111	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87636	0.2519	10	0.87932	D	0	.	16.1894	0.81975	1.0:0.0:0.0:0.0	.	2164	Q13315	ATM_HUMAN	G	2164	ENSP00000278616:E2164G;ENSP00000388058:E2164G	ENSP00000278616:E2164G	E	+	2	0	ATM	107697276	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	8.566000	0.90734	2.222000	0.72286	0.477000	0.44152	GAG		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		10	78	0	0	0	0.006214	0	10	78		
DSCAML1	57453	broad.mit.edu	37	11	117342611	117342611	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:117342611C>G	ENST00000321322.6	-	15	3107	c.3106G>C	c.(3106-3108)Gag>Cag	p.E1036Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E766Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	976	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATGGTGAGCTCCTTGCTTGGT	0.592																																						uc001prh.1		NaN																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3106-3108)GAG>CAG		Down syndrome cell adhesion molecule like 1							145.0	128.0	134.0					11																	117342611		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117342611C>G		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3106G>C	11.37:g.117342611C>G	ENSP00000315465:p.Glu1036Gln						p.E1036Q	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	15	3108	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	976			Extracellular (Potential).|Fibronectin type-III 1.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3106G>C	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401124	0.62288	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.54279	0.58;0.58	4.07	4.07	0.47477	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73265	0.3565	M	0.86864	2.845	0.80722	D	1	D	0.62365	0.991	D	0.63113	0.911	T	0.77327	-0.2629	9	0.39692	T	0.17	.	16.4552	0.84009	0.0:1.0:0.0:0.0	.	976	Q8TD84	DSCL1_HUMAN	Q	766;1036;743	ENSP00000434335:E766Q;ENSP00000315465:E1036Q	ENSP00000315465:E1036Q	E	-	1	0	DSCAML1	116847821	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.647000	0.83462	2.075000	0.62263	0.455000	0.32223	GAG		0.592	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693		21	32	0	0	0	0.012319	0	21	32		
CBL	867	broad.mit.edu	37	11	119142469	119142469	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:119142469C>T	ENST00000264033.4	+	3	844	c.468C>T	c.(466-468)ctC>ctT	p.L156L		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	156	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		AACTGTCCCTCATCTTCAGCC	0.368			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2		NaN		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					0				haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(466-468)CTC>CTT		Cas-Br-M (murine) ecotropic retroviral							81.0	83.0	83.0					11																	119142469		2199	4295	6494	SO:0001819	synonymous_variant	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119142469C>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.468C>T	11.37:g.119142469C>T							p.L156L	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	3	606	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	156			Cbl-PTB.|4H.		A3KMP8	Silent	SNP	ENST00000264033.4	37	c.468C>T	CCDS8418.1																																																																																				0.368	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4		NM_005188		33	49	0	0	0	0.010818	0	33	49		
MFRP	83552	broad.mit.edu	37	11	119216324	119216324	+	Silent	SNP	A	A	C	rs530195019		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:119216324A>C	ENST00000530681.1	-	5	591	c.447T>G	c.(445-447)tcT>tcG	p.S149S	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Silent_p.S149S|MFRP_ENST00000449574.2_Silent_p.S149S|MFRP_ENST00000360167.4_Silent_p.S149S|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	149	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCCTTGGGCCAGAGAGGAGGC	0.572																																						uc001pwj.2		NaN																	0					0						c.(445-447)TCT>TCG		membrane frizzled-related protein							33.0	34.0	33.0					11																	119216324		2199	4295	6494	SO:0001819	synonymous_variant	83552					collagen		g.chr11:119216324A>C	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.447T>G	11.37:g.119216324A>C						MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.S149S	p.S149S	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	5	607	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	ENST00000530681.1	37	c.447T>G	CCDS8421.1																																																																																				0.572	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1		NM_031433		8	45	0	0	0	0.004482	0	8	45		
OR8B4	283162	broad.mit.edu	37	11	124294104	124294104	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:124294104A>G	ENST00000356130.3	-	1	685	c.664T>C	c.(664-666)Tcc>Ccc	p.S222P		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGATGTTGGAGAGTATCAAA	0.468																																						uc010sak.1		NaN																	0				skin(1)	1						c.(664-666)TCC>CCC		olfactory receptor, family 8, subfamily B,							84.0	74.0	77.0					11																	124294104		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294104A>G	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.664T>C	11.37:g.124294104A>G	ENSP00000348449:p.Ser222Pro						p.S222P	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	664	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	222			Cytoplasmic (Potential).		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.664T>C	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	a	12.55	1.971250	0.34754	.	.	ENSG00000198657	ENST00000356130	T	0.38240	1.15	4.14	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000093	T	0.51534	0.1680	M	0.84433	2.695	0.09310	N	1	P	0.52463	0.953	P	0.56865	0.808	T	0.53578	-0.8419	10	0.72032	D	0.01	.	3.785	0.08697	0.6643:0.0:0.0991:0.2366	.	222	Q96RC9	OR8B4_HUMAN	P	222	ENSP00000348449:S222P	ENSP00000348449:S222P	S	-	1	0	OR8B4	123799314	0.000000	0.05858	0.891000	0.34965	0.425000	0.31504	-0.250000	0.08830	2.109000	0.64355	0.533000	0.62120	TCC		0.468	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1		NM_001005196		14	29	0	0	0	0.00245	0	14	29		
VSIG2	23584	broad.mit.edu	37	11	124621381	124621381	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:124621381C>A	ENST00000326621.5	-	2	257	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	VSIG2_ENST00000403470.1_Missense_Mutation_p.D53Y	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	53	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCGAAGCTGTCTCCCACCGAC	0.637																																						uc001qas.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(157-159)GAC>TAC		V-set and immunoglobulin domain containing 2							106.0	79.0	88.0					11																	124621381		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124621381C>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.157G>T	11.37:g.124621381C>A	ENSP00000318684:p.Asp53Tyr					VSIG2_uc001qat.2_Missense_Mutation_p.D53Y	p.D53Y	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	2	233	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	53			Extracellular (Potential).|Ig-like V-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.157G>T	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592940	0.66219	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.66815	-0.23;-0.23	4.62	3.71	0.42584	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.406492	0.23508	N	0.047425	T	0.66528	0.2798	L	0.35854	1.095	0.33494	D	0.589066	P	0.51791	0.948	P	0.57846	0.828	T	0.74147	-0.3759	10	0.72032	D	0.01	.	6.8079	0.23788	0.0:0.7963:0.0:0.2037	.	53	Q96IQ7	VSIG2_HUMAN	Y	53	ENSP00000318684:D53Y;ENSP00000385013:D53Y	ENSP00000318684:D53Y	D	-	1	0	VSIG2	124126591	0.988000	0.35896	1.000000	0.80357	0.890000	0.51754	1.409000	0.34680	1.163000	0.42636	0.655000	0.94253	GAC		0.637	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1		NM_014312		8	52	1	0	0.00448238	0.004482	0.00466866	8	52		
AKAP3	10566	broad.mit.edu	37	12	4735736	4735736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:4735736G>A	ENST00000545990.2	-	5	2856	c.2332C>T	c.(2332-2334)Caa>Taa	p.Q778*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.Q778*|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	778					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GCTACCCATTGAAGGACGGCT	0.493																																						uc001qnb.3		NaN																	0				skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(2332-2334)CAA>TAA		A-kinase anchor protein 3							154.0	141.0	146.0					12																	4735736		2203	4300	6503	SO:0001587	stop_gained	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4735736G>A	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2332C>T	12.37:g.4735736G>A	ENSP00000440994:p.Gln778*						p.Q778*	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	2561	-			778					O75945|Q86X01|Q9UM61	Nonsense_Mutation	SNP	ENST00000545990.2	37	c.2332C>T	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	G	43	10.267383	0.99371	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	.	.	.	4.91	4.91	0.64330	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.2829	15.1144	0.72388	0.0:0.0:1.0:0.0	.	.	.	.	X	778	.	ENSP00000228850:Q778X	Q	-	1	0	AKAP3	4605997	1.000000	0.71417	0.970000	0.41538	0.991000	0.79684	5.252000	0.65445	2.544000	0.85801	0.655000	0.94253	CAA		0.493	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2		NM_006422		5	71	0	0	0	0.000602	0	5	71		
CHD4	1108	broad.mit.edu	37	12	6703629	6703629	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:6703629T>C	ENST00000357008.2	-	15	2472	c.2309A>G	c.(2308-2310)aAg>aGg	p.K770R	CHD4_ENST00000544040.1_Missense_Mutation_p.K763R|CHD4_ENST00000309577.6_Missense_Mutation_p.K770R|CHD4_ENST00000544484.1_Missense_Mutation_p.K767R	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	770	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				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						CCTTACCTCCTTGTAAAGGGA	0.448																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	0				central_nervous_system(2)	2						c.(2308-2310)AAG>AGG		chromodomain helicase DNA binding protein 4							104.0	104.0	104.0					12																	6703629		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.chr12:6703629T>C	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.2309A>G	12.37:g.6703629T>C	ENSP00000349508:p.Lys770Arg					CHD4_uc001qpn.2_Missense_Mutation_p.K763R|CHD4_uc001qpp.2_Missense_Mutation_p.K767R	p.K770R	NM_001273	NP_001264	Q14839	CHD4_HUMAN			15	2473	-			770			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2309A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623247	0.87460	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.17	5.17	0.71159	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	L	0.35644	1.08	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.91635	0.994;0.999;0.987	D	0.95231	0.8342	10	0.66056	D	0.02	.	15.182	0.72965	0.0:0.0:0.0:1.0	.	770;770;763	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	R	767;763;770;770;744	ENSP00000440392:K767R;ENSP00000440542:K763R;ENSP00000312419:K770R;ENSP00000349508:K770R	ENSP00000312419:K770R	K	-	2	0	CHD4	6573890	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.841000	0.86834	2.170000	0.68504	0.482000	0.46254	AAG		0.448	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		12	47	0	0	0	0.010729	0	12	47		
GYS2	2998	broad.mit.edu	37	12	21693375	21693375	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:21693375G>A	ENST00000261195.2	-	14	2032	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	593					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAGAAGATCTGAGAGCCTCTC	0.403																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NaN																	0				lung(1)|skin(1)	2						c.(1777-1779)TCA>TTA		glycogen synthase 2							174.0	180.0	178.0					12																	21693375		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21693375G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1778C>T	12.37:g.21693375G>A	ENSP00000261195:p.Ser593Leu						p.S593L	NM_021957	NP_068776	P54840	GYS2_HUMAN			14	2033	-			593					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.1778C>T	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801901	0.90538	.	.	ENSG00000111713	ENST00000261195	T	0.71817	-0.6	5.11	5.11	0.69529	.	0.134244	0.52532	D	0.000072	D	0.87474	0.6186	M	0.90483	3.12	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.89820	0.3988	10	0.87932	D	0	-4.2237	18.7118	0.91659	0.0:0.0:1.0:0.0	.	593	P54840	GYS2_HUMAN	L	593	ENSP00000261195:S593L	ENSP00000261195:S593L	S	-	2	0	GYS2	21584642	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.415000	0.73328	2.646000	0.89796	0.655000	0.94253	TCA		0.403	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1		NM_021957		26	160	0	0	0	0.004656	0	26	160		
IPO8	10526	broad.mit.edu	37	12	30833434	30833434	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:30833434G>C	ENST00000256079.4	-	5	959	c.621C>G	c.(619-621)atC>atG	p.I207M		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	207					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GTGCATAAAAGATTTTCAGAA	0.378																																						uc001rjd.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(619-621)ATC>ATG		importin 8							84.0	88.0	86.0					12																	30833434		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30833434G>C	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.621C>G	12.37:g.30833434G>C	ENSP00000256079:p.Ile207Met						p.I207M	NM_006390	NP_006381	O15397	IPO8_HUMAN			5	791	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		207					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.621C>G	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789451	0.49997	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	T;T	0.69175	-0.38;-0.38	4.65	1.64	0.23874	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.053164	0.64402	D	0.000001	T	0.80433	0.4622	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76932	-0.2776	10	0.62326	D	0.03	-13.5962	5.2724	0.15632	0.1507:0.0:0.4407:0.4086	.	207	O15397	IPO8_HUMAN	M	207;145	ENSP00000256079:I207M;ENSP00000440979:I145M	ENSP00000256079:I207M	I	-	3	3	IPO8	30724701	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.097000	0.41748	0.225000	0.20959	0.585000	0.79938	ATC		0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2		NM_006390		9	56	0	0	0	0.004482	0	9	56		
ARID2	196528	broad.mit.edu	37	12	46243532	46243532	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:46243532G>C	ENST00000334344.6	+	14	2057	c.1885G>C	c.(1885-1887)Gat>Cat	p.D629H	ARID2_ENST00000444670.1_Missense_Mutation_p.D239H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.D480H|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	629					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTCCTGATGTATCTCC	0.343			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(1885-1887)GAT>CAT		AT rich interactive domain 2 (ARID, RFX-like)							322.0	295.0	304.0					12																	46243532		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46243532G>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1885G>C	12.37:g.46243532G>C	ENSP00000335044:p.Asp629His					ARID2_uc001ror.2_Missense_Mutation_p.D629H|ARID2_uc009zkg.1_Missense_Mutation_p.D85H|ARID2_uc009zkh.1_Missense_Mutation_p.D256H|ARID2_uc001rou.1_5'Flank	p.D629H	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	14	1885	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	629					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1885G>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619855	0.28801	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.32753	1.44	5.91	5.91	0.95273	.	0.285489	0.39274	N	0.001410	T	0.38665	0.1049	L	0.27053	0.805	0.80722	D	1	P;P	0.49559	0.925;0.877	P;P	0.53593	0.73;0.541	T	0.03717	-1.1010	10	0.44086	T	0.13	-6.3401	20.2985	0.98592	0.0:0.0:1.0:0.0	.	629;629	Q68CP9-3;Q68CP9	.;ARID2_HUMAN	H	629;480;239	ENSP00000335044:D629H	ENSP00000335044:D629H	D	+	1	0	ARID2	44529799	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	6.065000	0.71176	2.793000	0.96121	0.655000	0.94253	GAT		0.343	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		36	158	0	0	0	0.003271	0	36	158		
ARID2	196528	broad.mit.edu	37	12	46245434	46245434	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:46245434T>C	ENST00000334344.6	+	15	3700	c.3528T>C	c.(3526-3528)gtT>gtC	p.V1176V	ARID2_ENST00000444670.1_Silent_p.V786V|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.V1027V|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1176					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCATAACAGTTGTGCCAAATA	0.478			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3526-3528)GTT>GTC		AT rich interactive domain 2 (ARID, RFX-like)							86.0	85.0	86.0					12																	46245434		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245434T>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3528T>C	12.37:g.46245434T>C						ARID2_uc001ror.2_Silent_p.V1176V|ARID2_uc009zkg.1_Silent_p.V632V|ARID2_uc009zkh.1_Silent_p.V803V|ARID2_uc001rou.1_Silent_p.V510V	p.V1176V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3528	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1176					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.3528T>C	CCDS31783.1																																																																																				0.478	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		10	76	0	0	0	0.006214	0	10	76		
ZNF641	121274	broad.mit.edu	37	12	48737057	48737057	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:48737057T>C	ENST00000544117.2	-	6	1724	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	ZNF641_ENST00000547026.1_Missense_Mutation_p.Q325R|ZNF641_ENST00000301042.3_Missense_Mutation_p.Q339R|ZNF641_ENST00000448928.3_Missense_Mutation_p.Q316R			Q96N77	ZN641_HUMAN	zinc finger protein 641	339					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						ATGCACTCTCTGGTGGCTGGC	0.557																																						uc001rrn.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1015-1017)CAG>CGG		zinc finger protein 641							116.0	107.0	110.0					12																	48737057		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48737057T>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.1016A>G	12.37:g.48737057T>C	ENSP00000437832:p.Gln339Arg					ZNF641_uc001rro.1_Missense_Mutation_p.Q325R|ZNF641_uc010sls.1_Missense_Mutation_p.Q316R	p.Q339R	NM_152320	NP_689533	Q96N77	ZN641_HUMAN			6	1181	-			339			C2H2-type 3.		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.1016A>G	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124412	0.56613	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000008	T	0.80649	0.4663	L	0.31207	0.915	0.30024	N	0.81406	D;D	0.63880	0.993;0.982	D;D	0.65684	0.937;0.909	T	0.78964	-0.1996	10	0.54805	T	0.06	.	13.944	0.64073	0.0:0.0:0.0:1.0	.	316;339	B4DNU5;Q96N77	.;ZN641_HUMAN	R	339;339;316;325	ENSP00000301042:Q339R;ENSP00000437832:Q339R;ENSP00000394627:Q316R;ENSP00000449974:Q325R	ENSP00000301042:Q339R	Q	-	2	0	ZNF641	47023324	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	2.078000	0.41567	2.232000	0.73038	0.533000	0.62120	CAG		0.557	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1		NM_152320		25	81	0	0	0	0.003954	0	25	81		
C12orf54	121273	broad.mit.edu	37	12	48879982	48879982	+	Missense_Mutation	SNP	G	G	C	rs187824566		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:48879982G>C	ENST00000548364.1	+	2	144	c.87G>C	c.(85-87)atG>atC	p.M29I	C12orf54_ENST00000314014.2_Missense_Mutation_p.M29I|RP11-722P11.4_ENST00000551847.1_RNA			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	29										endometrium(1)|large_intestine(4)	5						AAGAGACAATGAGACCACAGG	0.458																																						uc001rrr.2		NaN																	0					0						c.(85-87)ATG>ATC		hypothetical protein LOC121273							111.0	101.0	104.0					12																	48879982		2203	4300	6503	SO:0001583	missense	121273							g.chr12:48879982G>C	BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.87G>C	12.37:g.48879982G>C	ENSP00000447109:p.Met29Ile					C12orf54_uc009zky.1_RNA	p.M29I	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN			2	144	+			29					Q6X4S9|Q8N5S2	Missense_Mutation	SNP	ENST00000548364.1	37	c.87G>C	CCDS8764.1	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136479	0.06711	.	.	ENSG00000177627	ENST00000314014;ENST00000548364	T;T	0.49720	0.77;0.77	4.74	-0.698	0.11280	.	0.916363	0.09203	N	0.834336	T	0.26195	0.0639	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.22138	-1.0225	10	0.87932	D	0	0.753	4.5968	0.12334	0.3873:0.154:0.4587:0.0	.	29	Q6X4T0	CL054_HUMAN	I	29	ENSP00000316898:M29I;ENSP00000447109:M29I	ENSP00000316898:M29I	M	+	3	0	C12orf54	47166249	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.457000	0.06745	-0.225000	0.09913	-0.997000	0.02515	ATG		0.458	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1		NM_152319		12	63	0	0	0	0.001855	0	12	63		
KMT2D	8085	broad.mit.edu	37	12	49444981	49444981	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:49444981C>G	ENST00000301067.7	-	10	2484	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	829	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGTGATTCCTCAGGTTGGGGG	0.632																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2485-2487)GAG>CAG		myeloid/lymphoid or mixed-lineage leukemia 2							45.0	51.0	49.0					12																	49444981		2063	4166	6229	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49444981C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2485G>C	12.37:g.49444981C>G	ENSP00000301067:p.Glu829Gln	HNSCC(34;0.089)					p.E829Q	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2485	-			829	Missing (in Ref. 1; AAC51734).		Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2485G>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	8.738	0.918224	0.17982	.	.	ENSG00000167548	ENST00000301067	T	0.34072	1.38	3.68	2.79	0.32731	.	.	.	.	.	T	0.21103	0.0508	N	0.19112	0.55	0.18873	N	0.999988	B	0.29432	0.244	B	0.21917	0.037	T	0.16217	-1.0410	9	0.87932	D	0	.	5.9251	0.19108	0.0:0.7682:0.0:0.2318	.	829	O14686	MLL2_HUMAN	Q	829	ENSP00000301067:E829Q	ENSP00000301067:E829Q	E	-	1	0	MLL2	47731248	0.000000	0.05858	0.965000	0.40720	0.013000	0.08279	0.359000	0.20233	1.141000	0.42275	-0.251000	0.11542	GAG		0.632	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				11	49	0	0	0	0.010729	0	11	49		
HIGD1C	613227	broad.mit.edu	37	12	51347856	51347856	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:51347856C>A	ENST00000398455.3	+	1	152	c.75C>A	c.(73-75)gaC>gaA	p.D25E		NM_001109619.1	NP_001103089.1	A8MV81	HIG1C_HUMAN	HIG1 hypoxia inducible domain family, member 1C	25	HIG1. {ECO:0000255|PROSITE- ProRule:PRU00836}.					integral component of membrane (GO:0016021)				lung(1)	1						AATCTAGAGACTCCCCCTTTG	0.413																																						uc010smw.1		NaN																	0					0						c.(73-75)GAC>GAA		HIG1 domain family, member 1C							113.0	110.0	111.0					12																	51347856		1868	4118	5986	SO:0001583	missense	613227					integral to membrane		g.chr12:51347856C>A	DQ029494	CCDS44882.1	12q13.12	2011-09-16	2009-03-17		ENSG00000214511	ENSG00000214511			28044	protein-coding gene	gene with protein product			"""HIG1 domain family, member 1C"""				Standard	NM_001109619		Approved	Gm921	uc010smw.2	A8MV81	OTTHUMG00000169488	ENST00000398455.3:c.75C>A	12.37:g.51347856C>A	ENSP00000381473:p.Asp25Glu						p.D25E	NM_001109619	NP_001103089	A8MV81	HIG1C_HUMAN			1	75	+			25			HIG1.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000398455.3	37	c.75C>A	CCDS44882.1	.	.	.	.	.	.	.	.	.	.	C	6.620	0.482789	0.12581	.	.	ENSG00000214511	ENST00000398455	T	0.22539	1.95	4.7	-1.58	0.08479	Hypoxia induced protein, domain (2);	0.182174	0.33572	U	0.004773	T	0.15349	0.0370	.	.	.	0.26506	N	0.974688	P	0.36616	0.561	B	0.39660	0.306	T	0.11842	-1.0571	9	0.87932	D	0	1.1434	4.0859	0.09947	0.2842:0.2294:0.0:0.4864	.	25	A8MV81	HIG1C_HUMAN	E	25	ENSP00000381473:D25E	ENSP00000381473:D25E	D	+	3	2	HIGD1C	49634123	0.083000	0.21467	0.982000	0.44146	0.917000	0.54804	-0.540000	0.06106	-0.201000	0.10284	-0.237000	0.12165	GAC		0.413	HIGD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404340.2		NM_001109619		9	82	1	0	0.00621372	0.006214	0.00642191	9	82		
ACVR1B	91	broad.mit.edu	37	12	52379062	52379062	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:52379062C>G	ENST00000257963.4	+	6	1143	c.1066C>G	c.(1066-1068)Ctg>Gtg	p.L356V	ACVR1B_ENST00000541224.1_Missense_Mutation_p.L397V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.L356V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.L304V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.L356V|RNU6-574P_ENST00000384265.1_RNA|ACVR1B_ENST00000563121.1_3'UTR	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	AGACCTGGGCCTGGCTGTCCG	0.522																																						uc001rzn.2		NaN																	0				pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9						c.(1066-1068)CTG>GTG		activin A receptor, type IB isoform a precursor	Adenosine triphosphate(DB00171)						131.0	118.0	123.0					12																	52379062		2203	4300	6503	SO:0001583	missense	91				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding	g.chr12:52379062C>G		CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.1066C>G	12.37:g.52379062C>G	ENSP00000257963:p.Leu356Val					ACVR1B_uc001rzl.2_Missense_Mutation_p.L356V|ACVR1B_uc001rzm.2_Missense_Mutation_p.L356V|ACVR1B_uc010snn.1_Missense_Mutation_p.L397V	p.L356V	NM_004302	NP_004293	P36896	ACV1B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.104)	6	1108	+			356			Protein kinase.|Cytoplasmic (Potential).		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	c.1066C>G	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516267	0.64634	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67	4.76	3.87	0.44632	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.96488	0.8854	M	0.78285	2.405	0.58432	D	0.999999	D;P;D;D	0.63046	0.992;0.946;0.971;0.986	D;P;P;P	0.64321	0.924;0.705;0.835;0.797	D	0.96827	0.9608	10	0.87932	D	0	.	13.407	0.60919	0.0:0.924:0.0:0.076	.	397;356;356;356	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	V	356;397;356;356;304	ENSP00000257963:L356V;ENSP00000442656:L397V;ENSP00000390477:L356V;ENSP00000397550:L356V;ENSP00000442885:L304V	ENSP00000257963:L356V	L	+	1	2	ACVR1B	50665329	0.940000	0.31905	1.000000	0.80357	0.993000	0.82548	2.066000	0.41452	1.382000	0.46385	0.563000	0.77884	CTG		0.522	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1		NM_020328		14	64	0	0	0	0.00245	0	14	64		
RARG	5916	broad.mit.edu	37	12	53607931	53607931	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:53607931A>G	ENST00000425354.2	-	7	1212	c.725T>C	c.(724-726)gTg>gCg	p.V242A	RARG_ENST00000327550.3_Missense_Mutation_p.V170A|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.V242A|RARG_ENST00000338561.5_Missense_Mutation_p.V231A|RARG_ENST00000543726.1_Missense_Mutation_p.V220A	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	242	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGCAAACTCCACGATCTTGAT	0.557											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	0				breast(2)|ovary(1)|lung(1)	4						c.(724-726)GTG>GCG		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						142.0	131.0	135.0					12																	53607931		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607931A>G	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.725T>C	12.37:g.53607931A>G	ENSP00000388510:p.Val242Ala		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Missense_Mutation_p.V231A|RARG_uc010sob.1_Missense_Mutation_p.V220A|RARG_uc001scf.2_Missense_Mutation_p.V242A|RARG_uc001scg.2_Missense_Mutation_p.V170A|RARG_uc010soc.1_Missense_Mutation_p.V121A|RARG_uc010sod.1_Missense_Mutation_p.V279A	p.V242A	NM_000966	NP_000957	P13631	RARG_HUMAN			7	1210	-			242			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.725T>C	CCDS8850.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.3|26.3	4.724795|4.724795	0.89298|0.89298	.|.	.|.	ENSG00000172819|ENSG00000172819	ENST00000538479|ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	.|D;D;D;D;D	.|0.96802	.|-4.13;-4.13;-4.13;-4.13;-4.13	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.98516	.|0.9505	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.76494	.|0.971;0.875;0.987;0.999	.|D;P;D;D	.|0.80764	.|0.975;0.626;0.909;0.994	.|D	.|0.99683	.|1.0999	.|10	.|0.87932	.|D	.|0	.|.	14.6593|14.6593	0.68858|0.68858	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|279;220;242;231	.|F8VR45;B7Z4F1;P13631;F1D8P1	.|.;.;RARG_HUMAN;.	.|A	-1|242;242;170;231;220;279	.|ENSP00000388510:V242A;ENSP00000377947:V242A;ENSP00000332695:V170A;ENSP00000343698:V231A;ENSP00000444335:V220A	.|ENSP00000332695:V170A	.|V	-|-	.|2	.|0	RARG|RARG	51894198|51894198	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	9.339000|9.339000	0.96797|0.96797	2.171000|2.171000	0.68590|0.68590	0.460000|0.460000	0.39030|0.39030	.|GTG		0.557	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		37	122	0	0	0	0.003271	0	37	122		
ESPL1	9700	broad.mit.edu	37	12	53673530	53673530	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:53673530G>A	ENST00000257934.4	+	12	2470	c.2379G>A	c.(2377-2379)ctG>ctA	p.L793L	ESPL1_ENST00000552462.1_Silent_p.L793L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	793					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGCAGGCTCTGGAGGTCCTCC	0.597																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(2377-2379)CTG>CTA		separase							111.0	107.0	108.0					12																	53673530		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53673530G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2379G>A	12.37:g.53673530G>A						ESPL1_uc001scj.2_Silent_p.L468L|ESPL1_uc010soe.1_Silent_p.L4L	p.L793L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			12	2470	+			793						Silent	SNP	ENST00000257934.4	37	c.2379G>A	CCDS8852.1																																																																																				0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291		38	87	0	0	0	0.006999	0	38	87		
PAWR	5074	broad.mit.edu	37	12	79986470	79986470	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:79986470G>A	ENST00000328827.4	-	7	1312	c.940C>T	c.(940-942)Cta>Tta	p.L314L		NM_002583.2	NP_002574.2	Q96IZ0	PAWR_HUMAN	PRKC, apoptosis, WT1, regulator	314	Leucine-zipper.				actin filament bundle assembly (GO:0051017)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|interleukin-2 biosynthetic process (GO:0042094)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|positive regulation of apoptotic process (GO:0043065)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)|leucine zipper domain binding (GO:0043522)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ATGTCATCTAGGTCCTTAAGA	0.299																																						uc001syx.2		NaN																	0					0						c.(940-942)CTA>TTA		PRKC, apoptosis, WT1, regulator							68.0	68.0	68.0					12																	79986470		2202	4299	6501	SO:0001819	synonymous_variant	5074				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	g.chr12:79986470G>A	U63809	CCDS31863.1	12q21.2	2013-03-07			ENSG00000177425	ENSG00000177425			8614	protein-coding gene	gene with protein product	"""prostate apoptosis response-4"""	601936				8943350, 9790775	Standard	NM_002583		Approved	par-4, PAR4	uc001syx.3	Q96IZ0	OTTHUMG00000170080	ENST00000328827.4:c.940C>T	12.37:g.79986470G>A							p.L314L	NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN			7	1226	-			314			Leucine-zipper.		O75796|Q6FHY9|Q8N700	Silent	SNP	ENST00000328827.4	37	c.940C>T	CCDS31863.1																																																																																				0.299	PAWR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407175.1		NM_002583		6	23	0	0	0	0.001984	0	6	23		
ACSS3	79611	broad.mit.edu	37	12	81648681	81648681	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:81648681G>T	ENST00000548058.1	+	16	2951	c.2041G>T	c.(2041-2043)Gaa>Taa	p.E681*	ACSS3_ENST00000548324.1_Nonsense_Mutation_p.E363*|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.E680*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	681						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCACGTAGAAGAAATGCTGAA	0.308																																						uc001szl.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(2041-2043)GAA>TAA		acyl-CoA synthetase short-chain family member 3							94.0	98.0	97.0					12																	81648681		2203	4300	6503	SO:0001587	stop_gained	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81648681G>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.2041G>T	12.37:g.81648681G>T	ENSP00000449535:p.Glu681*					ACSS3_uc001szm.1_Nonsense_Mutation_p.E680*|ACSS3_uc001szn.1_Nonsense_Mutation_p.E363*	p.E681*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			16	2132	+			681					Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	c.2041G>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	45	11.281424	0.99541	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	.	.	.	5.95	5.95	0.96441	.	0.534882	0.21654	N	0.071135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-6.0448	20.3812	0.98933	0.0:0.0:1.0:0.0	.	.	.	.	X	681;680;363	.	ENSP00000261206:E680X	E	+	1	0	ACSS3	80172812	1.000000	0.71417	0.990000	0.47175	0.327000	0.28475	4.910000	0.63321	2.821000	0.97095	0.650000	0.86243	GAA		0.308	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1		NM_024560		9	65	1	0	1.12685e-05	0.004482	1.2279e-05	9	65		
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000539066.1_Splice_Site_p.L310F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																						uc001tlp.2		NaN																	4	Substitution - Missense(4)		kidney(3)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1102-1104)CTT>TTT		DNA-directed RNA polymerase III B isoform 1							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_uc001tlq.2_Missense_Mutation_p.L310F	p.L368F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1102C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082	Missense_Mutation	5	11	0	0	0	0.001984	0	5	11		
CUX2	23316	broad.mit.edu	37	12	111779715	111779715	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:111779715G>T	ENST00000261726.6	+	21	3671	c.3517G>T	c.(3517-3519)Gtg>Ttg	p.V1173L	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1173					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGCCCCGGGTGGTGCTGGC	0.662																																						uc001tsa.1		NaN																	0				ovary(3)|skin(2)|breast(1)	6						c.(3517-3519)GTG>TTG		cut-like 2							50.0	61.0	57.0					12																	111779715		2088	4238	6326	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111779715G>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3517G>T	12.37:g.111779715G>T	ENSP00000261726:p.Val1173Leu						p.V1173L	NM_015267	NP_056082	O14529	CUX2_HUMAN			21	3670	+			1173			Homeobox.		A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.3517G>T	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989640	0.93106	.	.	ENSG00000111249	ENST00000261726	D	0.96136	-3.92	5.1	5.1	0.69264	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96457	0.8844	L	0.47190	1.495	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.94988	0.8132	10	0.21540	T	0.41	-27.7064	18.528	0.90980	0.0:0.0:1.0:0.0	.	1173	O14529	CUX2_HUMAN	L	1173	ENSP00000261726:V1173L	ENSP00000261726:V1173L	V	+	1	0	CUX2	110264098	1.000000	0.71417	0.942000	0.38095	0.811000	0.45836	9.787000	0.99055	2.377000	0.81083	0.462000	0.41574	GTG		0.662	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1		NM_015267		12	58	1	0	5.16669e-11	0.010729	6.02279e-11	12	58		
RPL6	6128	broad.mit.edu	37	12	112846122	112846122	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:112846122C>G	ENST00000424576.2	-	3	443	c.258G>C	c.(256-258)gaG>gaC	p.E86D	RPL6_ENST00000202773.9_Missense_Mutation_p.E86D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	86					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)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						CGAGAACCTTCTCCTTCTTTT	0.433																																						uc001ttu.2		NaN																	0				large_intestine(1)	1						c.(256-258)GAG>GAC		ribosomal protein L6							113.0	116.0	115.0					12																	112846122		2203	4300	6503	SO:0001583	missense	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112846122C>G	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.258G>C	12.37:g.112846122C>G	ENSP00000403172:p.Glu86Asp					RPL6_uc001ttv.2_Missense_Mutation_p.E86D|RPL6_uc009zwd.1_3'UTR	p.E86D	NM_001024662	NP_001019833	Q02878	RL6_HUMAN			3	487	-			86					Q2M3Q3|Q8WW97	Missense_Mutation	SNP	ENST00000424576.2	37	c.258G>C	CCDS9162.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342917	0.41498	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000549847;ENST00000553213;ENST00000551291;ENST00000548343	T;T	0.33216	1.42;1.42	5.09	2.21	0.28008	Ribosomal protein L6, N-terminal (1);	0.672459	0.15492	N	0.259529	T	0.22166	0.0534	L	0.43152	1.355	0.33220	D	0.554526	B	0.21071	0.051	B	0.22386	0.039	T	0.19549	-1.0302	10	0.28530	T	0.3	.	4.7898	0.13243	0.1421:0.5464:0.0:0.3115	.	86	Q02878	RL6_HUMAN	D	86;86;26;86;86;86;86	ENSP00000202773:E86D;ENSP00000403172:E86D	ENSP00000202773:E86D	E	-	3	2	RPL6	111330505	0.024000	0.19004	0.290000	0.24890	0.790000	0.44656	-0.335000	0.07873	0.166000	0.19597	0.655000	0.94253	GAG		0.433	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1				15	97	0	0	0	0.00245	0	15	97		
OAS2	4939	broad.mit.edu	37	12	113445538	113445538	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:113445538C>G	ENST00000342315.4	+	9	1899	c.1685C>G	c.(1684-1686)tCt>tGt	p.S562C	OAS2_ENST00000392583.2_Missense_Mutation_p.S562C|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	562	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAAAGGGGTCTTTGCCCCCA	0.547																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.2		NaN																	0				ovary(1)	1						c.(1684-1686)TCT>TGT		2'-5'-oligoadenylate synthetase 2 isoform 1							99.0	94.0	96.0					12																	113445538		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113445538C>G	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1685C>G	12.37:g.113445538C>G	ENSP00000342278:p.Ser562Cys					OAS2_uc001tui.1_Missense_Mutation_p.S562C	p.S562C	NM_016817	NP_058197	P29728	OAS2_HUMAN			9	1825	+			562			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.1685C>G	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	12.59	1.982937	0.34942	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.47869	0.83;0.83	4.14	2.3	0.28687	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.567651	0.15005	N	0.285914	T	0.65554	0.2702	M	0.83012	2.62	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52953	-0.8506	10	0.59425	D	0.04	-11.5187	5.5961	0.17327	0.0:0.6887:0.2011:0.1101	.	562;562	P29728;P29728-2	OAS2_HUMAN;.	C	562	ENSP00000342278:S562C;ENSP00000376362:S562C	ENSP00000342278:S562C	S	+	2	0	OAS2	111929921	0.125000	0.22332	0.002000	0.10522	0.006000	0.05464	1.662000	0.37418	0.407000	0.25591	-0.922000	0.02736	TCT		0.547	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1				19	108	0	0	0	0.006122	0	19	108		
SACS	26278	broad.mit.edu	37	13	23904689	23904689	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:23904689G>T	ENST00000382292.3	-	9	13599	c.13326C>A	c.(13324-13326)ggC>ggA	p.G4442G	SACS_ENST00000402364.1_Silent_p.G3692G|SACS_ENST00000382298.3_Silent_p.G4442G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4442					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACTGGATTGCCAACCGACT	0.468																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(13324-13326)GGC>GGA		sacsin							79.0	85.0	83.0					13																	23904689		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904689G>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13326C>A	13.37:g.23904689G>T						SACS_uc001uoo.2_Silent_p.G4295G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.G4442G	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13915	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4442					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.13326C>A	CCDS9300.2																																																																																				0.468	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		29	112	1	0	3.90053e-15	0.012213	4.65509e-15	29	112		
SLC7A1	6541	broad.mit.edu	37	13	30107006	30107006	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:30107006C>G	ENST00000380752.5	-	4	870	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	162					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCGGGGTTTTCAGCCAGCACG	0.547																																						uc001uso.2		NaN																	0					0						c.(484-486)GAA>CAA		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						116.0	117.0	116.0					13																	30107006		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30107006C>G	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.484G>C	13.37:g.30107006C>G	ENSP00000370128:p.Glu162Gln						p.E162Q	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	4	871	-		Lung SC(185;0.0257)|Breast(139;0.238)	162			Extracellular (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.484G>C	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635924	0.29068	.	.	ENSG00000139514	ENST00000380752	D	0.86562	-2.14	4.58	0.524	0.17066	Amino acid permease domain (1);	0.639399	0.17254	N	0.181038	T	0.80549	0.4644	L	0.51422	1.61	0.09310	N	1	B	0.15473	0.013	B	0.27170	0.077	T	0.65323	-0.6196	10	0.27785	T	0.31	.	5.4408	0.16507	0.0:0.2767:0.4361:0.2872	.	162	P30825	CTR1_HUMAN	Q	162	ENSP00000370128:E162Q	ENSP00000370128:E162Q	E	-	1	0	SLC7A1	29005006	0.052000	0.20516	0.214000	0.23707	0.838000	0.47535	0.447000	0.21710	0.246000	0.21394	0.655000	0.94253	GAA		0.547	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2		NM_003045		21	77	0	0	0	0.014323	0	21	77		
FRY	10129	broad.mit.edu	37	13	32841467	32841467	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:32841467A>C	ENST00000380250.3	+	55	8603	c.8107A>C	c.(8107-8109)Aca>Cca	p.T2703P	FRY_ENST00000542859.1_Missense_Mutation_p.T73P	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2703						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCTGTGTATACATTTCATGT	0.512																																						uc001utx.2		NaN																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(8107-8109)ACA>CCA		furry homolog							113.0	118.0	116.0					13																	32841467		2063	4219	6282	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32841467A>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8107A>C	13.37:g.32841467A>C	ENSP00000369600:p.Thr2703Pro					FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.T258P|FRY_uc001utz.2_Missense_Mutation_p.T228P|FRY_uc010tdx.1_Missense_Mutation_p.T73P	p.T2703P	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	55	8603	+		Lung SC(185;0.0271)	2703					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.8107A>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648676	0.87958	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.27890	1.64	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	M	0.80183	2.485	0.80722	D	1	D;P	0.71674	0.998;0.942	D;P	0.64042	0.921;0.555	T	0.62048	-0.6936	10	0.62326	D	0.03	.	15.6381	0.76970	1.0:0.0:0.0:0.0	.	484;2703	Q8NB82;Q5TBA9	.;FRY_HUMAN	P	2703;347;73	ENSP00000369600:T2703P	ENSP00000369567:T347P	T	+	1	0	FRY	31739467	1.000000	0.71417	0.977000	0.42913	0.731000	0.41821	8.925000	0.92832	2.102000	0.63906	0.528000	0.53228	ACA		0.512	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037		8	58	0	0	0	0.004482	0	8	58		
BRCA2	675	broad.mit.edu	37	13	32945213	32945213	+	Nonsense_Mutation	SNP	C	C	T	rs587782010		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:32945213C>T	ENST00000380152.3	+	20	8841	c.8608C>T	c.(8608-8610)Cag>Tag	p.Q2870*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.Q2870*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2870					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CACTAAAATTCAGGAGGAATT	0.318			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(8608-8610)CAG>TAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							83.0	87.0	86.0					13																	32945213		2203	4300	6503	SO:0001587	stop_gained	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32945213C>T	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8608C>T	13.37:g.32945213C>T	ENSP00000369497:p.Gln2870*	TCGA Ovarian(8;0.087)					p.Q2870*	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	20	8835	+		Lung SC(185;0.0262)	2870					O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	ENST00000380152.3	37	c.8608C>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	51	18.280305	0.99902	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	.	.	.	5.28	5.28	0.74379	.	0.126297	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.9234	0.92536	0.0:1.0:0.0:0.0	.	.	.	.	X	2870	.	ENSP00000369497:Q2870X	Q	+	1	0	BRCA2	31843213	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	4.523000	0.60545	2.476000	0.83614	0.484000	0.47621	CAG		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		12	51	0	0	0	0.013537	0	12	51		
MAB21L1	4081	broad.mit.edu	37	13	36049441	36049441	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:36049441A>G	ENST00000379919.4	-	1	1391	c.835T>C	c.(835-837)Tcc>Ccc	p.S279P	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	279					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACTCGTAGGAAACCAGAGTC	0.522																																						uc001uvc.2		NaN																	0				ovary(2)	2						c.(835-837)TCC>CCC		mab-21-like protein 1							87.0	80.0	82.0					13																	36049441		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049441A>G	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.835T>C	13.37:g.36049441A>G	ENSP00000369251:p.Ser279Pro					NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.S279P	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1392	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	279					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.835T>C	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265224	0.40095	.	.	ENSG00000180660	ENST00000379919	T	0.08008	3.14	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.08537	0.0212	N	0.08118	0	0.80722	D	1	B	0.26602	0.154	B	0.39094	0.29	T	0.42965	-0.9420	10	0.66056	D	0.02	-38.6811	16.0659	0.80870	1.0:0.0:0.0:0.0	.	279	Q13394	MB211_HUMAN	P	279	ENSP00000369251:S279P	ENSP00000369251:S279P	S	-	1	0	MAB21L1	34947441	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.327000	0.79147	2.209000	0.71365	0.533000	0.62120	TCC		0.522	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3		NM_005584		10	80	0	0	0	0.006214	0	10	80		
POSTN	10631	broad.mit.edu	37	13	38153448	38153448	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:38153448C>G	ENST00000379747.4	-	13	1826	c.1709G>C	c.(1708-1710)gGa>gCa	p.G570A	POSTN_ENST00000379743.4_Missense_Mutation_p.G570A|POSTN_ENST00000541179.1_Missense_Mutation_p.G570A|POSTN_ENST00000379749.4_Missense_Mutation_p.G570A|POSTN_ENST00000541481.1_Missense_Mutation_p.G570A|POSTN_ENST00000379742.4_Missense_Mutation_p.G570A	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	570	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AATGAAAACTCCTGGTGTCAG	0.318																																						uc001uwo.3		NaN																	0				ovary(2)	2						c.(1708-1710)GGA>GCA		periostin, osteoblast specific factor isoform 1							72.0	76.0	74.0					13																	38153448		2203	4298	6501	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38153448C>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1709G>C	13.37:g.38153448C>G	ENSP00000369071:p.Gly570Ala					POSTN_uc010tet.1_Missense_Mutation_p.G98A|POSTN_uc001uwp.3_Missense_Mutation_p.G570A|POSTN_uc001uwr.2_Missense_Mutation_p.G570A|POSTN_uc001uwq.2_Missense_Mutation_p.G570A|POSTN_uc010teu.1_Missense_Mutation_p.G570A|POSTN_uc010tev.1_Missense_Mutation_p.G570A|POSTN_uc010tew.1_Missense_Mutation_p.G570A|POSTN_uc010tex.1_Missense_Mutation_p.G485A	p.G570A	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	13	1827	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	570			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1709G>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816452	0.70912	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	5.98	5.98	0.97165	FAS1 domain (5);	0.095021	0.64402	D	0.000001	D	0.95332	0.8485	M	0.76574	2.34	0.50632	D	0.999881	D;D;D;D;D;P;D	0.76494	0.985;0.967;0.999;0.981;0.992;0.933;0.999	P;P;D;P;P;P;D	0.74023	0.822;0.728;0.956;0.728;0.769;0.612;0.982	D	0.94552	0.7754	10	0.48119	T	0.1	.	13.6313	0.62196	0.0:0.9295:0.0:0.0705	.	570;570;570;570;570;570;570	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	A	570	ENSP00000437959:G570A;ENSP00000369073:G570A;ENSP00000369071:G570A;ENSP00000369067:G570A;ENSP00000369066:G570A;ENSP00000437953:G570A	ENSP00000369066:G570A	G	-	2	0	POSTN	37051448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.309000	0.59135	2.847000	0.97988	0.591000	0.81541	GGA		0.318	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2		NM_006475		14	74	0	0	0	0.001855	0	14	74		
INTS6	26512	broad.mit.edu	37	13	51950240	51950240	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:51950240C>G	ENST00000311234.4	-	13	2145	c.1673G>C	c.(1672-1674)aGa>aCa	p.R558T	INTS6_ENST00000425000.1_Missense_Mutation_p.R126T|INTS6_ENST00000490542.1_Missense_Mutation_p.R242T|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Missense_Mutation_p.R545T|INTS6_ENST00000497989.1_Missense_Mutation_p.R380T	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	558					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AGATCTCATTCTTGTTAAGTG	0.323																																						uc001vfk.2		NaN																	0				ovary(1)|lung(1)	2						c.(1672-1674)AGA>ACA		integrator complex subunit 6 isoform a							88.0	86.0	87.0					13																	51950240		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51950240C>G	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1673G>C	13.37:g.51950240C>G	ENSP00000310260:p.Arg558Thr					INTS6_uc001vfi.2_Missense_Mutation_p.R242T|INTS6_uc001vfj.2_Missense_Mutation_p.R545T|INTS6_uc001vfl.2_Missense_Mutation_p.R380T	p.R558T	NM_012141	NP_036273	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	13	2287	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	558					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.1673G>C	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100433	0.94245	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.48	5.48	0.80851	.	0.045335	0.85682	D	0.000000	T	0.76758	0.4032	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80491	-0.1359	10	0.87932	D	0	-17.0453	18.3392	0.90299	0.0:1.0:0.0:0.0	.	558	Q9UL03	INT6_HUMAN	T	558;545;380;126;242	ENSP00000310260:R558T;ENSP00000381187:R545T;ENSP00000419871:R380T;ENSP00000406915:R126T;ENSP00000419984:R242T	ENSP00000310260:R558T	R	-	2	0	INTS6	50848241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.579000	0.87056	0.650000	0.86243	AGA		0.323	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1		NM_012141		13	28	0	0	0	0.013537	0	13	28		
RNF113B	140432	broad.mit.edu	37	13	98828982	98828982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:98828982C>T	ENST00000267291.6	-	1	537	c.509G>A	c.(508-510)gGg>gAg	p.G170E	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	170							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCTCGCCATCCCCGAGGAGGA	0.632																																						uc001vnk.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(508-510)GGG>GAG		ring finger protein 113B							79.0	67.0	71.0					13																	98828982		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98828982C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.509G>A	13.37:g.98828982C>T	ENSP00000267291:p.Gly170Glu					FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	p.G170E	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	540	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		170					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.509G>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.703661	0.30232	.	.	ENSG00000139797	ENST00000267291	T	0.34072	1.38	1.16	0.251	0.15540	.	0.000000	0.85682	U	0.000000	T	0.59376	0.2189	M	0.92026	3.265	0.48975	D	0.999732	D	0.89917	1.0	D	0.79108	0.992	T	0.57631	-0.7778	10	0.72032	D	0.01	.	5.4266	0.16429	0.0:0.7787:0.0:0.2213	.	170	Q8IZP6	R113B_HUMAN	E	170	ENSP00000267291:G170E	ENSP00000267291:G170E	G	-	2	0	RNF113B	97626983	0.999000	0.42202	0.834000	0.33040	0.101000	0.19017	3.503000	0.53340	0.056000	0.16144	0.484000	0.47621	GGG		0.632	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3		NM_178861		7	30	0	0	0	0.001984	0	7	30		
DAOA	267012	broad.mit.edu	37	13	106124975	106124975	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr13:106124975G>C	ENST00000375936.3	+	3	268	c.222G>C	c.(220-222)caG>caC	p.Q74H	DAOA_ENST00000329625.5_Missense_Mutation_p.Q3H|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	74					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AAATGGCACAGAGGCATTTAC	0.428																																						uc001vqb.2		NaN																	0					0						c.(220-222)CAG>CAC		D-amino acid oxidase activator isoform 1							179.0	178.0	178.0					13																	106124975		1922	4121	6043	SO:0001583	missense	267012					Golgi apparatus		g.chr13:106124975G>C	AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.222G>C	13.37:g.106124975G>C	ENSP00000365103:p.Gln74His					DAOA_uc010tjf.1_Missense_Mutation_p.Q3H|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.R10T|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	p.Q74H	NM_172370	NP_758958	P59103	DAOA_HUMAN			3	496	+	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		74					A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	ENST00000375936.3	37	c.222G>C	CCDS41905.1	.	.	.	.	.	.	.	.	.	.	G	3.320	-0.139009	0.06669	.	.	ENSG00000182346	ENST00000375936;ENST00000329625	T	0.29917	1.55	3.24	2.39	0.29439	.	.	.	.	.	T	0.30603	0.0770	N	0.14661	0.345	0.09310	N	1	D	0.71674	0.998	P	0.61477	0.889	T	0.07908	-1.0748	9	0.87932	D	0	.	6.6515	0.22965	0.1333:0.0:0.8667:0.0	.	74	P59103	DAOA_HUMAN	H	74;3	ENSP00000365103:Q74H	ENSP00000329951:Q3H	Q	+	3	2	DAOA	104922976	0.003000	0.15002	0.001000	0.08648	0.028000	0.11728	0.242000	0.18087	0.935000	0.37341	-0.263000	0.10527	CAG		0.428	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099040.2		NM_172370		6	39	0	0	0	0.001168	0	6	39		
SUPT16H	11198	broad.mit.edu	37	14	21821928	21821928	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:21821928C>T	ENST00000216297.2	-	24	3192	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	952	Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|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)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TAGTCATCTTCTGAAGGATTA	0.408																																						uc001wao.2		NaN																	0					0						c.(2854-2856)GAA>AAA		chromatin-specific transcription elongation							122.0	110.0	114.0					14																	21821928		2203	4297	6500	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21821928C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2854G>A	14.37:g.21821928C>T	ENSP00000216297:p.Glu952Lys					SUPT16H_uc001wan.2_Missense_Mutation_p.E96K	p.E952K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	24	3193	-	all_cancers(95;0.00115)		952			Glu-rich (acidic).		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2854G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362258	0.61403	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.43	5.43	0.79202	Domain of unknown function DUF1747, eukaryote (1);	0.051881	0.85682	D	0.000000	T	0.68879	0.3049	M	0.76328	2.33	0.80722	D	1	B	0.29766	0.256	B	0.27076	0.076	T	0.70092	-0.4967	9	0.59425	D	0.04	-17.5121	18.449	0.90696	0.0:1.0:0.0:0.0	.	952	Q9Y5B9	SP16H_HUMAN	K	952	.	ENSP00000216297:E952K	E	-	1	0	SUPT16H	20891768	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.568000	0.73987	2.723000	0.93209	0.650000	0.86243	GAA		0.408	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2				7	86	0	0	0	0.00308	0	7	86		
NOP9	161424	broad.mit.edu	37	14	24769358	24769358	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:24769358C>T	ENST00000267425.3	+	1	291	c.198C>T	c.(196-198)cgC>cgT	p.R66R	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Silent_p.R66R|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	66							poly(A) RNA binding (GO:0044822)										GATATTTCCGCCGGGCGCTGT	0.637																																						uc001wol.1		NaN																	0				breast(2)|central_nervous_system(1)|skin(1)	4						c.(196-198)CGC>CGT		hypothetical protein LOC161424							46.0	55.0	52.0					14																	24769358		2163	4267	6430	SO:0001819	synonymous_variant	161424						RNA binding	g.chr14:24769358C>T		CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.198C>T	14.37:g.24769358C>T						C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank	p.R66R	NM_174913	NP_777573	Q86U38	CN021_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	1	261	+			66					A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	ENST00000267425.3	37	c.198C>T	CCDS9624.1																																																																																				0.637	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073186.2				12	92	0	0	0	0.010729	0	12	92		
PELI2	57161	broad.mit.edu	37	14	56746399	56746399	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:56746399C>G	ENST00000267460.4	+	3	499	c.213C>G	c.(211-213)atC>atG	p.I71M		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	71	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						attaGGCTATCAGCTGCAAAG	0.373																																						uc001xch.2		NaN																	0				ovary(1)	1						c.(211-213)ATC>ATG		pellino 2							107.0	105.0	105.0					14																	56746399		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56746399C>G	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.213C>G	14.37:g.56746399C>G	ENSP00000267460:p.Ile71Met						p.I71M	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			3	499	+			71					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.213C>G	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352699	0.41700	.	.	ENSG00000139946	ENST00000267460	T	0.48201	0.82	4.84	3.96	0.45880	.	0.165938	0.53938	D	0.000055	T	0.46386	0.1390	L	0.49126	1.545	0.44129	D	0.996917	P	0.38250	0.624	B	0.41236	0.351	T	0.50013	-0.8877	10	0.52906	T	0.07	-31.4135	13.4939	0.61414	0.0:0.9245:0.0:0.0755	.	71	Q9HAT8	PELI2_HUMAN	M	71	ENSP00000267460:I71M	ENSP00000267460:I71M	I	+	3	3	PELI2	55816152	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.395000	0.34520	1.406000	0.46857	-0.259000	0.10710	ATC		0.373	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1				15	54	0	0	0	0.00245	0	15	54		
VTI1B	10490	broad.mit.edu	37	14	68129250	68129250	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:68129250C>T	ENST00000554659.1	-	2	459	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	RP11-1012A1.4_ENST00000554493.1_5'UTR|RP11-1012A1.4_ENST00000553306.1_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	40					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TTCTTCTTTTCTTCTAGAAAA	0.378																																						uc001xjt.2		NaN																	0					0						c.(118-120)GAA>AAA		vesicle transport through interaction with							105.0	101.0	103.0					14																	68129250		2203	4299	6502	SO:0001583	missense	10490				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane		g.chr14:68129250C>T	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.118G>A	14.37:g.68129250C>T	ENSP00000450731:p.Glu40Lys					VTI1B_uc010aqp.2_5'UTR|VTI1B_uc001xju.2_Intron	p.E40K	NM_006370	NP_006361	Q9UEU0	VTI1B_HUMAN		all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)	2	514	-			40			Potential.|Cytoplasmic (Potential).		O43547|Q96J28	Missense_Mutation	SNP	ENST00000554659.1	37	c.118G>A	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850276	0.91277	.	.	ENSG00000100568	ENST00000554659	.	.	.	4.86	4.86	0.63082	t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	L	0.52759	1.655	0.80722	D	1	D	0.63046	0.992	P	0.59703	0.862	T	0.72010	-0.4419	9	0.46703	T	0.11	.	18.5432	0.91037	0.0:1.0:0.0:0.0	.	40	Q9UEU0	VTI1B_HUMAN	K	40	.	ENSP00000216456:E40K	E	-	1	0	VTI1B	67199003	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.122000	0.71608	2.687000	0.91594	0.462000	0.41574	GAA		0.378	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2				6	35	0	0	0	0.001168	0	6	35		
LTBP2	4053	broad.mit.edu	37	14	75018986	75018986	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:75018986C>G	ENST00000261978.4	-	6	1689	c.1303G>C	c.(1303-1305)Gac>Cac	p.D435H	LTBP2_ENST00000557425.1_Intron|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.D435H	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	435					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTCCCTGTCCGGCTGCGGG	0.672																																						uc001xqa.2		NaN																	0				liver(1)|skin(1)	2						c.(1303-1305)GAC>CAC		latent transforming growth factor beta binding							32.0	35.0	34.0					14																	75018986		2201	4291	6492	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75018986C>G		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1303G>C	14.37:g.75018986C>G	ENSP00000261978:p.Asp435His						p.D435H	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	6	1690	-			435					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1303G>C	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.811486	0.50527	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.39229	1.09;1.09	4.9	4.9	0.64082	.	0.000000	0.42294	D	0.000736	T	0.48874	0.1524	L	0.54323	1.7	0.09310	N	0.999995	P	0.47409	0.895	P	0.49708	0.62	T	0.44982	-0.9292	10	0.44086	T	0.13	.	15.2676	0.73675	0.0:1.0:0.0:0.0	.	435	Q14767	LTBP2_HUMAN	H	435	ENSP00000261978:D435H;ENSP00000451477:D435H	ENSP00000261978:D435H	D	-	1	0	LTBP2	74088739	0.002000	0.14202	0.028000	0.17463	0.933000	0.57130	0.445000	0.21677	2.245000	0.73994	0.550000	0.68814	GAC		0.672	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428		4	51	0	0	0	0.000602	0	4	51		
YLPM1	56252	broad.mit.edu	37	14	75230761	75230761	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:75230761C>G	ENST00000552421.1	+	1	693	c.569C>G	c.(568-570)tCc>tGc	p.S190C	YLPM1_ENST00000325680.7_Missense_Mutation_p.S190C|YLPM1_ENST00000238571.3_Missense_Mutation_p.S190C			P49750	YLPM1_HUMAN	YLP motif containing 1	190	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTCAGCCGTCCCCTTCGCAG	0.597																																						uc001xqj.3		NaN																	0				ovary(2)|pancreas(1)	3						c.(568-570)TCC>TGC		YLP motif containing 1							70.0	78.0	76.0					14																	75230761		2070	4195	6265	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230761C>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.569C>G	14.37:g.75230761C>G	ENSP00000447921:p.Ser190Cys						p.S190C	NM_019589	NP_062535	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	693	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.569C>G		.	.	.	.	.	.	.	.	.	.	C	12.16	1.855516	0.32791	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.23147	1.92;1.92;1.92	4.44	4.44	0.53790	.	0.122857	0.37437	N	0.002093	T	0.31949	0.0813	N	0.14661	0.345	0.26068	N	0.98127	D	0.76494	0.999	D	0.64237	0.923	T	0.18053	-1.0349	10	0.59425	D	0.04	-5.9862	16.0234	0.80516	0.0:1.0:0.0:0.0	.	190	P49750-4	.	C	190	ENSP00000447921:S190C;ENSP00000324463:S190C;ENSP00000238571:S190C	ENSP00000238571:S190C	S	+	2	0	YLPM1	74300514	0.996000	0.38824	1.000000	0.80357	0.984000	0.73092	4.309000	0.59135	2.287000	0.76781	0.650000	0.86243	TCC		0.597	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1		NM_019589		8	42	0	0	0	0.004482	0	8	42		
ATXN3	4287	broad.mit.edu	37	14	92537344	92537344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:92537344G>T	ENST00000532032.1	-	10	935	c.926C>A	c.(925-927)tCa>tAa	p.S309*	ATXN3_ENST00000545170.1_Nonsense_Mutation_p.S318*|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.S309*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.S302*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.S294*|ATXN3_ENST00000502250.1_Nonsense_Mutation_p.S130*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.S254*			P54252	ATX3_HUMAN	ataxin 3	309					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ACTCTGTCCTGATAGGTCCCC	0.468																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3		NaN																	0					0						c.(925-927)TCA>TAA		ataxin 3 reference isoform							134.0	100.0	112.0					14																	92537344		2203	4300	6503	SO:0001587	stop_gained	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92537344G>T	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.926C>A	14.37:g.92537344G>T	ENSP00000437157:p.Ser309*					ATXN3_uc010aug.2_Nonsense_Mutation_p.S294*|ATXN3_uc001yad.3_Nonsense_Mutation_p.S254*|ATXN3_uc010auh.2_Nonsense_Mutation_p.S243*|ATXN3_uc001yae.3_Nonsense_Mutation_p.S211*	p.S309*	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	10	995	-		all_cancers(154;0.0768)	309					A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Nonsense_Mutation	SNP	ENST00000532032.1	37	c.926C>A		.	.	.	.	.	.	.	.	.	.	G	9.202	1.028714	0.19512	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220	.	.	.	4.54	2.53	0.30540	.	0.612948	0.14765	N	0.299724	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9061	0.13799	0.1082:0.0:0.6823:0.2095	.	.	.	.	X	325;322;320;318;318;317;314;302;323;309;130;294;254;309;239;130;308;211;258;203	.	ENSP00000339110:S254X	S	-	2	0	ATXN3	91607097	0.584000	0.26766	0.106000	0.21319	0.005000	0.04900	0.783000	0.26802	1.241000	0.43820	0.454000	0.30748	TCA		0.468	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1		NM_004993		32	39	1	0	2.47511e-08	0.008361	2.82769e-08	32	39		
BTBD7	55727	broad.mit.edu	37	14	93709011	93709011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr14:93709011C>A	ENST00000334746.5	-	11	3314	c.3007G>T	c.(3007-3009)Gaa>Taa	p.E1003*	BTBD7_ENST00000393170.2_Nonsense_Mutation_p.E577*|BTBD7_ENST00000554565.1_Nonsense_Mutation_p.E652*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1003					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CTAGCTTCTTCCTGTTTTTTA	0.493																																						uc001ybo.2		NaN																	0				pancreas(1)	1						c.(3007-3009)GAA>TAA		BTB (POZ) domain containing 7 isoform 1							154.0	144.0	147.0					14																	93709011		2203	4300	6503	SO:0001587	stop_gained	55727							g.chr14:93709011C>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.3007G>T	14.37:g.93709011C>A	ENSP00000335615:p.Glu1003*					BTBD7_uc010aur.2_Nonsense_Mutation_p.E528*|BTBD7_uc010two.1_Nonsense_Mutation_p.E823*|BTBD7_uc001ybp.2_Nonsense_Mutation_p.E652*	p.E1003*	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3333	-		all_cancers(154;0.08)	1003					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	ENST00000334746.5	37	c.3007G>T	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	37	6.244407	0.97408	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.6086	0.99469	0.0:1.0:0.0:0.0	.	.	.	.	X	1003;652;618;577	.	ENSP00000335615:E1003X	E	-	1	0	BTBD7	92778764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.880000	0.98712	0.655000	0.94253	GAA		0.493	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		NM_001002860		59	87	1	0	2.5401e-28	0.01441	3.05879e-28	59	87		
NPAP1	23742	broad.mit.edu	37	15	24922473	24922473	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:24922473G>T	ENST00000329468.2	+	1	1933	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	487	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TTATAATTCAGTCGTAGGAGC	0.507																																						uc001ywo.2		NaN																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1459-1461)GTC>TTC		hypothetical protein LOC23742							184.0	194.0	191.0					15																	24922473		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922473G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1459G>T	15.37:g.24922473G>T	ENSP00000333735:p.Val487Phe						p.V487F	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1933	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	487			Pro-rich.			Missense_Mutation	SNP	ENST00000329468.2	37	c.1459G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.98	2.099174	0.37048	.	.	ENSG00000185823	ENST00000329468	T	0.09163	3.01	2.07	-3.17	0.05202	.	9.172870	0.00166	N	0.000005	T	0.08447	0.0210	L	0.34521	1.04	0.09310	N	1	B	0.23540	0.087	B	0.26517	0.07	T	0.29427	-1.0012	10	0.56958	D	0.05	.	0.843	0.01154	0.1471:0.194:0.2671:0.3918	.	487	Q9NZP6	CO002_HUMAN	F	487	ENSP00000333735:V487F	ENSP00000333735:V487F	V	+	1	0	C15orf2	22473566	0.003000	0.15002	0.000000	0.03702	0.036000	0.12997	0.295000	0.19065	-0.838000	0.04218	0.313000	0.20887	GTC		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1		NM_018958		21	167	1	0	8.34094e-07	0.008871	9.29088e-07	21	167		
NDUFAF1	51103	broad.mit.edu	37	15	41687143	41687143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:41687143C>A	ENST00000260361.4	-	3	1054	c.673G>T	c.(673-675)Gag>Tag	p.E225*		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	225					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TCTGTGTCCTCCTTGATATTC	0.488																																						uc001znx.2		NaN																	0				ovary(1)	1						c.(673-675)GAG>TAG		NADH dehydrogenase (ubiquinone) 1 alpha							122.0	101.0	108.0					15																	41687143		2203	4300	6503	SO:0001587	stop_gained	51103				mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding	g.chr15:41687143C>A	AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.673G>T	15.37:g.41687143C>A	ENSP00000260361:p.Glu225*					NDUFAF1_uc010bcf.2_RNA	p.E225*	NM_016013	NP_057097	Q9Y375	CIA30_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)	3	1055	-		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	225					Q9BVZ5	Nonsense_Mutation	SNP	ENST00000260361.4	37	c.673G>T	CCDS10075.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141572	0.94560	.	.	ENSG00000137806	ENST00000260361	.	.	.	5.63	1.2	0.21068	.	0.586746	0.19807	N	0.105638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-19.0982	4.7991	0.13287	0.1221:0.3104:0.4624:0.1051	.	.	.	.	X	225	.	ENSP00000260361:E225X	E	-	1	0	NDUFAF1	39474435	0.045000	0.20229	0.354000	0.25760	0.889000	0.51656	0.375000	0.20518	0.296000	0.22592	0.551000	0.68910	GAG		0.488	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252692.2		NM_016013		12	39	1	0	3.07112e-06	0.010729	3.39261e-06	12	39		
TP53BP1	7158	broad.mit.edu	37	15	43738684	43738684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:43738684C>T	ENST00000263801.3	-	14	3178	c.2926G>A	c.(2926-2928)Ggg>Agg	p.G976R	TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981R|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981R|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	976					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGCAGCCCCAGAATCCCCT	0.473								Other conserved DNA damage response genes																														uc001zrs.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(2926-2928)GGG>AGG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							101.0	101.0	101.0					15																	43738684		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43738684C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2926G>A	15.37:g.43738684C>T	ENSP00000263801:p.Gly976Arg					TP53BP1_uc010udp.1_Missense_Mutation_p.G976R|TP53BP1_uc001zrq.3_Missense_Mutation_p.G981R|TP53BP1_uc001zrr.3_Missense_Mutation_p.G981R|TP53BP1_uc010udq.1_Missense_Mutation_p.G981R	p.G976R	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	14	3074	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	976					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.2926G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744574	0.49151	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.09073	3.81;3.81;3.81;3.81;3.02	5.47	4.54	0.55810	.	0.636189	0.16408	N	0.215760	T	0.10380	0.0254	L	0.53249	1.67	0.23899	N	0.996522	B;P;P;P	0.49783	0.004;0.883;0.928;0.928	B;B;B;B	0.44085	0.009;0.255;0.44;0.44	T	0.20107	-1.0285	10	0.20046	T	0.44	-2.455	10.7683	0.46308	0.1332:0.7931:0.0:0.0737	.	981;976;981;981	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	R	976;981;981;981;941	ENSP00000263801:G976R;ENSP00000371475:G981R;ENSP00000371470:G981R;ENSP00000393497:G981R;ENSP00000388028:G941R	ENSP00000263801:G976R	G	-	1	0	TP53BP1	41525976	0.483000	0.25956	1.000000	0.80357	0.990000	0.78478	0.860000	0.27871	2.729000	0.93468	0.655000	0.94253	GGG		0.473	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3				29	76	0	0	0	0.009535	0	29	76		
DUT	1854	broad.mit.edu	37	15	48626677	48626677	+	Silent	SNP	G	G	A	rs201357294		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:48626677G>A	ENST00000331200.3	+	3	576	c.483G>A	c.(481-483)gcG>gcA	p.A161A	DUT_ENST00000559540.1_Silent_p.A73A|DUT_ENST00000558813.1_Silent_p.A50A|DUT_ENST00000559416.1_Silent_p.A76A|DUT_ENST00000559935.1_Silent_p.A76A|RP11-154J22.1_ENST00000560323.1_RNA|DUT_ENST00000455976.2_Silent_p.A73A|DUT_ENST00000561350.1_3'UTR|RP11-154J22.1_ENST00000559134.1_RNA	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	161					DNA replication (GO:0006260)|dUMP biosynthetic process (GO:0006226)|dUTP catabolic process (GO:0046081)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotrimerization (GO:0070207)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of protein heterodimerization activity (GO:0043497)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dUTP diphosphatase activity (GO:0004170)|poly(A) RNA binding (GO:0044822)|pyrimidine deoxyribonucleotide binding (GO:0032556)|receptor inhibitor activity (GO:0030547)			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		TTCAGATAGCGCTCCCTTCTG	0.363								Modulation of nucleotide pools																														uc001zws.2		NaN																	0					0						c.(481-483)GCG>GCA	Modulation_of_nucleotide_pools	deoxyuridine triphosphatase isoform 1 precursor		G	,,	0,4396		0,0,2198	129.0	125.0	127.0		483,150,219	-9.2	0.6	15		127	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	DUT	NM_001025248.1,NM_001025249.1,NM_001948.3	,,	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	,,	161/253,50/142,73/165	48626677	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	1854				DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding	g.chr15:48626677G>A	M89913	CCDS32231.1, CCDS45255.1, CCDS45256.1	15q21.1	2010-06-24	2007-12-17		ENSG00000128951	ENSG00000128951	3.6.1.23		3078	protein-coding gene	gene with protein product		601266	"""dUTP pyrophosphatase"""			1325640, 9070952	Standard	XM_005254211		Approved	dUTPase	uc001zws.3	P33316		ENST00000331200.3:c.483G>A	15.37:g.48626677G>A						DUT_uc001zwt.2_Silent_p.A50A|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_Silent_p.A73A|DUT_uc001zww.2_Silent_p.A73A|uc010ben.1_5'Flank	p.A161A	NM_001025248	NP_001020419	P33316	DUT_HUMAN		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)	3	575	+		all_lung(180;0.00265)	161					A8K650|B4DPR5|O14785|Q16708|Q16860|Q6FHN1|Q6NSA3|Q96Q81	Silent	SNP	ENST00000331200.3	37	c.483G>A	CCDS32231.1																																																																																				0.363	DUT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417142.2				6	39	0	0	0	0.001168	0	6	39		
FAM227B	196951	broad.mit.edu	37	15	49800544	49800544	+	Splice_Site	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:49800544A>C	ENST00000299338.6	-	11	1179	c.876T>G	c.(874-876)ggT>ggG	p.G292G	FAM227B_ENST00000561064.1_Splice_Site_p.G258G	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	292																	GAGGTTTTAAACCTGTTAATA	0.303																																						uc001zxl.2		NaN																	0				ovary(1)	1						c.(874-876)GGT>GGG		hypothetical protein LOC196951							75.0	76.0	76.0					15																	49800544		2196	4295	6491	SO:0001630	splice_region_variant	196951							g.chr15:49800544A>C		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.875-1T>G	15.37:g.49800544A>C						C15orf33_uc001zxm.2_Silent_p.G258G	p.G292G	NM_152647	NP_689860	Q96M60	CO033_HUMAN		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)	11	1170	-		all_lung(180;0.00187)	292					Q86WS2	Silent	SNP	ENST00000299338.6	37	c.876T>G	CCDS32237.1																																																																																				0.303	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1		NM_152647	Silent	6	44	0	0	0	0.001168	0	6	44		
AP4E1	23431	broad.mit.edu	37	15	51289655	51289655	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:51289655G>A	ENST00000261842.5	+	18	2585	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K	AP4E1_ENST00000560508.1_Missense_Mutation_p.E752K	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	827					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGTGGCATATGAAGATGATTA	0.353																																						uc001zyx.1		NaN																	0					0						c.(2479-2481)GAA>AAA		adaptor-related protein complex 4, epsilon 1							136.0	130.0	132.0					15																	51289655		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51289655G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2479G>A	15.37:g.51289655G>A	ENSP00000261842:p.Glu827Lys					AP4E1_uc010bex.1_RNA	p.E827K	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	18	2509	+			827					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2479G>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	7.426	0.637691	0.14386	.	.	ENSG00000081014	ENST00000261842	T	0.17691	2.26	4.79	4.79	0.61399	.	0.401764	0.28754	N	0.014248	T	0.10078	0.0247	N	0.19112	0.55	0.09310	N	0.999998	B	0.12630	0.006	B	0.04013	0.001	T	0.26430	-1.0103	10	0.07990	T	0.79	-6.4262	12.5993	0.56489	0.0:0.0:0.8227:0.1773	.	827	Q9UPM8	AP4E1_HUMAN	K	827	ENSP00000261842:E827K	ENSP00000261842:E827K	E	+	1	0	AP4E1	49076947	0.429000	0.25530	0.299000	0.25016	0.178000	0.23041	1.212000	0.32394	2.188000	0.69820	0.467000	0.42956	GAA		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1				9	55	0	0	0	0.004482	0	9	55		
FAM214A	56204	broad.mit.edu	37	15	52902491	52902491	+	Missense_Mutation	SNP	A	A	G	rs61731677	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:52902491A>G	ENST00000261844.7	-	6	772	c.620T>C	c.(619-621)gTt>gCt	p.V207A	FAM214A_ENST00000546305.2_Missense_Mutation_p.V214A	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	207				V -> A (in Ref. 2; BAF85606). {ECO:0000305}.													TTTCAAGGCAACATTGTGAGA	0.393													A|||	10	0.00199681	0.0008	0.0043	5008	,	,		19880	0.0		0.006	False		,,,				2504	0.0					uc002acg.3		NaN																	0					0						c.(619-621)GTT>GCT		hypothetical protein LOC56204		A	ALA/VAL	6,3914		0,6,1954	120.0	109.0	112.0		620	5.2	1.0	15	dbSNP_129	112	54,8286		0,54,4116	yes	missense	KIAA1370	NM_019600.2	64	0,60,6070	GG,GA,AA		0.6475,0.1531,0.4894	possibly-damaging	207/1077	52902491	60,12200	1960	4170	6130	SO:0001583	missense	56204							g.chr15:52902491A>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.620T>C	15.37:g.52902491A>G	ENSP00000261844:p.Val207Ala					KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.V119A|KIAA1370_uc010ugf.1_Missense_Mutation_p.V214A	p.V207A	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	6	773	-			207	V -> A (in Ref. 2; BAF85606).				A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.620T>C	CCDS45263.1	7	0.003205128205128205	0	0.0	3	0.008287292817679558	0	0.0	4	0.005277044854881266	A	21.5	4.164637	0.78339	0.001531	0.006475	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T;T	0.34472	1.37;1.42;1.36	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	M	0.74881	2.28	0.51482	D	0.99992	D;D	0.56746	0.977;0.962	P;B	0.53401	0.725;0.318	T	0.48714	-0.9011	10	0.35671	T	0.21	-9.7427	15.3512	0.74389	1.0:0.0:0.0:0.0	rs61731677	214;207	F5H8G0;Q32MH5	.;K1370_HUMAN	A	207;207;206;214	ENSP00000261844:V207A;ENSP00000382153:V207A;ENSP00000443598:V214A	ENSP00000261844:V207A	V	-	2	0	KIAA1370	50689783	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.678000	0.91211	2.072000	0.62099	0.528000	0.53228	GTT		0.393	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1		NM_019600		4	64	0	0	0	0.009096	0	4	64		
MPI	4351	broad.mit.edu	37	15	75190013	75190013	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:75190013C>T	ENST00000352410.4	+	8	1281	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	MPI_ENST00000566377.1_3'UTR|MPI_ENST00000535694.1_Missense_Mutation_p.S355L|MPI_ENST00000323744.6_Missense_Mutation_p.S344L|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000563786.1_Missense_Mutation_p.S385L			P34949	MPI_HUMAN	mannose phosphate isomerase	405					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GAGAGTGTCTCACTGAAGCTT	0.562																																						uc002azc.1		NaN																	0				ovary(2)	2						c.(1213-1215)TCA>TTA		mannose-6- phosphate isomerase							186.0	162.0	170.0					15																	75190013		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75190013C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1214C>T	15.37:g.75190013C>T	ENSP00000318318:p.Ser405Leu					MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Missense_Mutation_p.S355L|MPI_uc002aze.1_Missense_Mutation_p.S344L	p.S405L	NM_002435	NP_002426	P34949	MPI_HUMAN			8	1219	+			405					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.1214C>T	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128120	0.37533	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000323744	D;D;D	0.96491	-4.03;-4.03;-4.03	5.56	1.51	0.23008	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.377447	0.30723	N	0.009018	D	0.91459	0.7304	L	0.39020	1.185	0.53688	D	0.999978	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.82579	-0.0387	10	0.27785	T	0.31	.	8.3912	0.32528	0.0:0.6139:0.0:0.3861	.	344;405	P34949-2;P34949	.;MPI_HUMAN	L	405;355;344	ENSP00000318318:S405L;ENSP00000440447:S355L;ENSP00000318192:S344L	ENSP00000318192:S344L	S	+	2	0	MPI	72977066	0.666000	0.27475	0.017000	0.16124	0.824000	0.46624	1.470000	0.35354	0.035000	0.15519	0.306000	0.20318	TCA		0.562	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4				4	46	0	0	0	0.009096	0	4	46		
FAH	2184	broad.mit.edu	37	15	80467381	80467381	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:80467381G>T	ENST00000407106.1	+	11	1016	c.861G>T	c.(859-861)ctG>ctT	p.L287L	FAH_ENST00000561421.1_Silent_p.L287L|FAH_ENST00000261755.5_Silent_p.L287L|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000539156.1_Silent_p.L217L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	287					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCCGTATCTGTGCCATGACG	0.587									Tyrosinemia, type 1																													uc002bfj.2		NaN																	0					0						c.(859-861)CTG>CTT		fumarylacetoacetase							161.0	141.0	148.0					15																	80467381		2203	4300	6503	SO:0001819	synonymous_variant	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80467381G>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.861G>T	15.37:g.80467381G>T						FAH_uc002bfk.1_Silent_p.L287L|FAH_uc002bfm.1_Silent_p.L287L|FAH_uc002bfn.1_Silent_p.L217L|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank	p.L287L	NM_000137	NP_000128	P16930	FAAA_HUMAN			11	943	+			287					B2R9X1|D3DW95|Q53XA7	Silent	SNP	ENST00000407106.1	37	c.861G>T	CCDS10314.1																																																																																				0.587	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2				8	47	1	0	1.12685e-05	0.004482	1.2279e-05	8	47		
AKAP13	11214	broad.mit.edu	37	15	86273898	86273898	+	Silent	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:86273898T>A	ENST00000394518.2	+	30	7337	c.7242T>A	c.(7240-7242)gcT>gcA	p.A2414A	AKAP13_ENST00000394510.2_Silent_p.A659A|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.A2418A	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2414	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGAAGAGGCTCTCAAAGGAG	0.478											OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NaN																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(7240-7242)GCT>GCA		A-kinase anchor protein 13 isoform 2							105.0	98.0	100.0					15																	86273898		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86273898T>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7242T>A	15.37:g.86273898T>A			OREG0023425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1243	AKAP13_uc002blu.1_Silent_p.A2418A|AKAP13_uc002blw.1_Silent_p.A879A|AKAP13_uc002blx.1_Silent_p.A659A	p.A2414A	NM_007200	NP_009131	Q12802	AKP13_HUMAN			30	7412	+			2414			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.7242T>A	CCDS32319.1																																																																																				0.478	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200		17	73	0	0	0	0.00499	0	17	73		
ACAN	176	broad.mit.edu	37	15	89391184	89391184	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:89391184G>A	ENST00000561243.1	+	8	1647	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K	ACAN_ENST00000439576.2_Silent_p.K549K|ACAN_ENST00000558207.1_Silent_p.K549K|ACAN_ENST00000559004.1_Silent_p.K549K|ACAN_ENST00000352105.7_Silent_p.K549K			P16112	PGCA_HUMAN	aggrecan	549	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGGTGACAAGGACAGCAGCC	0.572																																						uc010upo.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1645-1647)AAG>AAA		aggrecan isoform 2 precursor							89.0	95.0	93.0					15																	89391184		1984	4157	6141	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391184G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1647G>A	15.37:g.89391184G>A						ACAN_uc002bmx.2_Silent_p.K549K|ACAN_uc010upp.1_Silent_p.K549K|ACAN_uc002bna.2_RNA	p.K549K	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		9	2021	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		549					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.1647G>A	CCDS53970.1																																																																																				0.572	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135		9	72	0	0	0	0.004482	0	9	72		
IGF1R	3480	broad.mit.edu	37	15	99491937	99491937	+	Splice_Site	SNP	T	T	G	rs45504297		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr15:99491937T>G	ENST00000268035.6	+	20	4333	c.3722T>G	c.(3721-3723)cTg>cGg	p.L1241R	IGF1R_ENST00000558762.1_Splice_Site_p.L1240R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCTGACATGCTGTACGTACTT	0.537																																						uc002bul.2		NaN																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(3721-3723)CTG>CGG		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						127.0	120.0	122.0					15																	99491937		2197	4297	6494	SO:0001630	splice_region_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99491937T>G	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3722+1T>G	15.37:g.99491937T>G						IGF1R_uc010bon.2_Missense_Mutation_p.L1240R	p.L1241R	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		20	3772	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		1241			Protein kinase.|Cytoplasmic (Potential).		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.3722T>G	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.817462	0.90790	.	.	ENSG00000140443	ENST00000268035	D	0.85339	-1.97	5.83	5.83	0.93111	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000372	D	0.92987	0.7768	M	0.85542	2.76	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.976;0.991	D	0.93886	0.7175	10	0.72032	D	0.01	.	16.2025	0.82095	0.0:0.0:0.0:1.0	.	1240;1241	C9J5X1;P08069	.;IGF1R_HUMAN	R	1241	ENSP00000268035:L1241R	ENSP00000268035:L1241R	L	+	2	0	IGF1R	97309460	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.013000	0.88655	2.231000	0.72958	0.459000	0.35465	CTG		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875	Missense_Mutation	7	71	0	0	0	0.00308	0	7	71		
NARFL	64428	broad.mit.edu	37	16	786283	786283	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:786283G>C	ENST00000251588.2	-	4	438	c.422C>G	c.(421-423)tCa>tGa	p.S141*	NARFL_ENST00000540986.1_Nonsense_Mutation_p.S39*|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000568545.1_Nonsense_Mutation_p.S39*|NARFL_ENST00000301694.5_Intron	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	141					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TTTAAAGAATGAGGTTAATTT	0.522																																						uc002cjr.2		NaN																	0					0						c.(421-423)TCA>TGA		nuclear prelamin A recognition factor-like							84.0	84.0	84.0					16																	786283		2200	4300	6500	SO:0001587	stop_gained	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:786283G>C	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.422C>G	16.37:g.786283G>C	ENSP00000251588:p.Ser141*					NARFL_uc002cjp.2_Nonsense_Mutation_p.S39*|NARFL_uc002cjq.2_Nonsense_Mutation_p.S39*|NARFL_uc002cjs.2_Intron|NARFL_uc010brc.1_Intron|NARFL_uc010uur.1_Intron	p.S141*	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN			4	434	-		Hepatocellular(780;0.0218)	141					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Nonsense_Mutation	SNP	ENST00000251588.2	37	c.422C>G	CCDS10425.1	.	.	.	.	.	.	.	.	.	.	g	42	9.186307	0.99094	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	.	.	.	4.96	4.96	0.65561	.	0.395724	0.27591	N	0.018684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.9639	17.5629	0.87912	0.0:0.0:1.0:0.0	.	.	.	.	X	141;39	.	ENSP00000251588:S141X	S	-	2	0	NARFL	726284	0.796000	0.28864	0.015000	0.15790	0.933000	0.57130	4.549000	0.60726	2.460000	0.83146	0.655000	0.94253	TCA		0.522	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1		NM_022493		7	54	0	0	0	0.001984	0	7	54		
PRR14	78994	broad.mit.edu	37	16	30665636	30665636	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:30665636G>C	ENST00000542965.2	+	6	1090	c.634G>C	c.(634-636)Gac>Cac	p.D212H	PRR14_ENST00000300835.4_Missense_Mutation_p.D212H			Q9BWN1	PRR14_HUMAN	proline rich 14	212	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577																																						uc002dyy.2		NaN																	0					0						c.(634-636)GAC>CAC		proline rich 14							119.0	125.0	123.0					16																	30665636		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30665636G>C	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.634G>C	16.37:g.30665636G>C	ENSP00000441641:p.Asp212His					PRR14_uc002dyz.2_Missense_Mutation_p.D57H|PRR14_uc002dza.2_Missense_Mutation_p.D212H|PRR14_uc002dzb.1_Missense_Mutation_p.D26H	p.D212H	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	892	+			212			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.634G>C	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	6.598	0.478744	0.12521	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.60920	0.15;0.15	5.39	0.974	0.19715	.	0.470643	0.19880	N	0.103986	T	0.46171	0.1379	L	0.54323	1.7	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.42481	-0.9449	10	0.62326	D	0.03	-0.6829	4.5099	0.11906	0.2826:0.1603:0.5571:0.0	.	212	Q9BWN1	PRR14_HUMAN	H	185;212;212	ENSP00000300835:D212H;ENSP00000441641:D212H	ENSP00000287463:D185H	D	+	1	0	PRR14	30573137	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.482000	0.22276	0.061000	0.16311	0.650000	0.86243	GAC		0.577	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1		NM_024031		40	128	0	0	0	0.00623	0	40	128		
ATP6V0D1	9114	broad.mit.edu	37	16	67514921	67514921	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:67514921C>T	ENST00000290949.3	-	1	219	c.69G>A	c.(67-69)ctG>ctA	p.L23L	ATP6V0D1_ENST00000540149.1_Silent_p.L23L|RP11-297D21.4_ENST00000602596.1_RNA	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	23					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CCCCGGCCTTCAGGCCGCGCA	0.652																																						uc002ete.1		NaN																	0					0						c.(67-69)CTG>CTA		ATPase, H+ transporting, lysosomal, V0 subunit							51.0	52.0	51.0					16																	67514921		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67514921C>T	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.69G>A	16.37:g.67514921C>T						ATP6V0D1_uc010vjo.1_Silent_p.L23L	p.L23L	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	1	169	-		Ovarian(137;0.0563)	23					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.69G>A	CCDS10838.1																																																																																				0.652	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1		NM_004691		15	44	0	0	0	0.003163	0	15	44		
FAM65A	79567	broad.mit.edu	37	16	67578265	67578265	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:67578265C>T	ENST00000379312.3	+	15	2797	c.2676C>T	c.(2674-2676)ctC>ctT	p.L892L	FAM65A_ENST00000428437.2_Silent_p.L902L|FAM65A_ENST00000422602.2_Silent_p.L908L|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Silent_p.L907L|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Silent_p.L888L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	892						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCGCCCCCTCAGCACGGGGT	0.652																																						uc010vjp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2722-2724)CTC>CTT		hypothetical protein LOC79567							91.0	86.0	88.0					16																	67578265		2198	4300	6498	SO:0001819	synonymous_variant	79567					cytoplasm	binding	g.chr16:67578265C>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2676C>T	16.37:g.67578265C>T						FAM65A_uc002eth.2_Silent_p.L888L|FAM65A_uc010cej.2_Silent_p.L891L|FAM65A_uc010vjq.1_Silent_p.L902L|FAM65A_uc002etk.2_Silent_p.L886L	p.L908L	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	15	2820	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	892					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	ENST00000379312.3	37	c.2724C>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334764	0.24253	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.55	3.52	0.40303	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.1046	10.5378	0.45016	0.1243:0.4524:0.4234:0.0	.	.	.	.	X	882	.	.	Q	+	1	0	FAM65A	66135766	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.849000	0.48286	0.647000	0.30713	0.655000	0.94253	CAG		0.652	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3		NM_024519		28	73	0	0	0	0.00632	0	28	73		
ZC3H18	124245	broad.mit.edu	37	16	88643559	88643559	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr16:88643559G>C	ENST00000301011.5	+	2	228	c.28G>C	c.(28-30)Gat>Cat	p.D10H	ZC3H18_ENST00000452588.2_Missense_Mutation_p.D10H	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	10						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTGAACGGGATCCTCACTC	0.547																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NaN																	0				skin(1)	1						c.(28-30)GAT>CAT		zinc finger CCCH-type containing 18							40.0	43.0	42.0					16																	88643559		2198	4299	6497	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88643559G>C	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.28G>C	16.37:g.88643559G>C	ENSP00000301011:p.Asp10His					ZC3H18_uc010voy.1_Missense_Mutation_p.D10H|ZC3H18_uc010voz.1_Missense_Mutation_p.D10H|ZC3H18_uc010vpa.1_Missense_Mutation_p.D10H	p.D10H	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	2	228	+			10					Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.28G>C	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595071	0.46318	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.33865	1.39;1.42	5.57	4.62	0.57501	.	0.431770	0.27572	N	0.018774	T	0.32912	0.0845	L	0.36672	1.1	0.31627	N	0.649486	P;B;P	0.40875	0.731;0.429;0.731	B;B;B	0.44224	0.444;0.414;0.366	T	0.45101	-0.9284	10	0.72032	D	0.01	-6.1554	9.1661	0.37052	0.2078:0.0:0.7922:0.0	.	10;10;10	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	H	10	ENSP00000301011:D10H;ENSP00000416951:D10H	ENSP00000289509:D10H	D	+	1	0	ZC3H18	87171060	1.000000	0.71417	0.995000	0.50966	0.911000	0.54048	3.186000	0.50942	1.360000	0.45960	0.561000	0.74099	GAT		0.547	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1		NM_144604		7	42	0	0	0	0.001984	0	7	42		
ANKFY1	51479	broad.mit.edu	37	17	4080500	4080500	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:4080500G>A	ENST00000341657.4	-	19	2731	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	ANKFY1_ENST00000570535.1_Missense_Mutation_p.S941L|ANKFY1_ENST00000574367.1_Missense_Mutation_p.S900L|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	899					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTGGACTCTTGAATTCACATT	0.473																																						uc002fxq.1		NaN																	0				ovary(2)|skin(1)	3						c.(2695-2697)TCA>TTA		ankyrin repeat and FYVE domain containing 1							131.0	123.0	126.0					17																	4080500		1978	4176	6154	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4080500G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2696C>T	17.37:g.4080500G>A	ENSP00000343362:p.Ser899Leu					ANKFY1_uc002fxn.2_Missense_Mutation_p.S941L|ANKFY1_uc002fxo.2_Missense_Mutation_p.S900L|ANKFY1_uc002fxp.2_Missense_Mutation_p.S898L|ANKFY1_uc010ckp.2_Missense_Mutation_p.S841L	p.S899L	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			19	2734	-			899			ANK 16.		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2696C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.107443	0.94292	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.95	5.95	0.96441	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	0.996;0.996;1.0;1.0	D;D;D;D	0.83275	0.99;0.951;0.996;0.996	T	0.78876	-0.2031	9	0.62326	D	0.03	-7.7054	19.367	0.94468	0.0:0.0:1.0:0.0	.	841;899;900;941	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	L	900;841	.	ENSP00000343362:S900L	S	-	2	0	ANKFY1	4027249	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.609000	0.98334	2.826000	0.97356	0.563000	0.77884	TCA		0.473	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1		NM_016376		27	47	0	0	0	0.004656	0	27	47		
ANKFY1	51479	broad.mit.edu	37	17	4080558	4080558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:4080558G>A	ENST00000341657.4	-	19	2673	c.2638C>T	c.(2638-2640)Cag>Tag	p.Q880*	ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.Q922*|ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.Q881*|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	880					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGAGTTCTGAACTGCCACA	0.473																																						uc002fxq.1		NaN																	0				ovary(2)|skin(1)	3						c.(2638-2640)CAG>TAG		ankyrin repeat and FYVE domain containing 1							148.0	138.0	141.0					17																	4080558		1986	4163	6149	SO:0001587	stop_gained	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4080558G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2638C>T	17.37:g.4080558G>A	ENSP00000343362:p.Gln880*					ANKFY1_uc002fxn.2_Nonsense_Mutation_p.Q922*|ANKFY1_uc002fxo.2_Nonsense_Mutation_p.Q881*|ANKFY1_uc002fxp.2_Nonsense_Mutation_p.Q879*|ANKFY1_uc010ckp.2_Nonsense_Mutation_p.Q822*	p.Q880*	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			19	2676	-			880			ANK 16.		A8KA65|Q5RKV4|Q9ULG5	Nonsense_Mutation	SNP	ENST00000341657.4	37	c.2638C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.451634	0.98292	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-19.5731	19.367	0.94468	0.0:0.0:1.0:0.0	.	.	.	.	X	881;822	.	ENSP00000343362:Q881X	Q	-	1	0	ANKFY1	4027307	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.609000	0.98334	2.826000	0.97356	0.563000	0.77884	CAG		0.473	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1		NM_016376		28	53	0	0	0	0.005443	0	28	53		
DNAH2	146754	broad.mit.edu	37	17	7710807	7710807	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:7710807G>C	ENST00000572933.1	+	63	11092	c.9632G>C	c.(9631-9633)cGg>cCg	p.R3211P	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3211P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3211	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGCTATATCGGGTGGTGGAG	0.642																																						uc002giu.1		NaN																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(9631-9633)CGG>CCG		dynein heavy chain domain 3							61.0	60.0	60.0					17																	7710807		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7710807G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9632G>C	17.37:g.7710807G>C	ENSP00000458355:p.Arg3211Pro					DNAH2_uc010cnm.1_Missense_Mutation_p.R149P	p.R3211P	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			62	9646	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3211			Stalk (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.9632G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	g	27.2	4.812149	0.90707	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.74106	-0.81	5.49	5.49	0.81192	Dynein heavy chain, coiled coil stalk (1);	0.137392	0.46758	D	0.000272	D	0.89238	0.6658	M	0.92412	3.305	0.80722	D	1	D;D	0.69078	0.977;0.997	P;D	0.67900	0.878;0.954	D	0.91470	0.5196	10	0.72032	D	0.01	.	18.1901	0.89804	0.0:0.0:1.0:0.0	.	3172;3211	Q9P225-2;Q9P225	.;DYH2_HUMAN	P	3172;3211	ENSP00000373825:R3211P	ENSP00000353818:R3172P	R	+	2	0	DNAH2	7651532	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	8.522000	0.90573	2.604000	0.88044	0.580000	0.79431	CGG		0.642	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877		5	53	0	0	0	0.001168	0	5	53		
RAD51D	5892	broad.mit.edu	37	17	33427979	33427979	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:33427979T>G	ENST00000345365.6	-	10	1235	c.980A>C	c.(979-981)cAg>cCg	p.Q327P	RAD51D_ENST00000590016.1_Missense_Mutation_p.Q347P|RAD51D_ENST00000590380.1_5'UTR|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000360276.3_Missense_Mutation_p.Q282P|RAD51D_ENST00000335858.7_Missense_Mutation_p.Q215P|RAD51D_ENST00000394589.4_Missense_Mutation_p.Q327P|RAD51D_ENST00000460118.2_Missense_Mutation_p.Q208P	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	327					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGGTCATGTCTGATCACCCTG	0.532								Direct reversal of damage																														uc002hir.2		NaN																	0					0						c.(979-981)CAG>CCG	Direct_reversal_of_damage|Homologous_recombination	RAD51-like 3 isoform 1							123.0	104.0	110.0					17																	33427979		2203	4300	6503	SO:0001583	missense	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33427979T>G	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.980A>C	17.37:g.33427979T>G	ENSP00000338790:p.Gln327Pro					RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_3'UTR|RAD51L3_uc010wcd.1_Missense_Mutation_p.Q347P|RAD51L3_uc002his.2_Missense_Mutation_p.Q215P|RAD51L3_uc010ctk.2_Missense_Mutation_p.Q208P|RAD51L3_uc010wce.1_Missense_Mutation_p.Q208P|RAD51L3_uc002hit.2_Missense_Mutation_p.Q208P|RAD51L3_uc002hiu.2_Missense_Mutation_p.Q150P	p.Q327P	NM_002878	NP_002869	O75771	RA51D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	10	1236	-		Ovarian(249;0.17)	327					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	c.980A>C	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	T	8.172	0.791960	0.16258	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766	T;T	0.44083	0.93;1.5	5.12	0.199	0.15175	.	0.629660	0.15052	N	0.283261	T	0.25344	0.0616	N	0.22421	0.69	0.09310	N	0.999999	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.09377	0.003;0.004;0.002	T	0.15578	-1.0432	10	0.54805	T	0.06	3.1572	7.0034	0.24823	0.1499:0.0:0.4654:0.3848	.	347;215;327	B4DJU7;O75771-3;O75771	.;.;RA51D_HUMAN	P	327;347;327;282;215	ENSP00000338790:Q327P;ENSP00000353417:Q282P	ENSP00000338408:Q327P	Q	-	2	0	RAD51D	30452092	0.042000	0.20092	0.009000	0.14445	0.107000	0.19398	0.702000	0.25631	-0.158000	0.11040	0.529000	0.55759	CAG		0.532	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1		NM_002878		16	61	0	0	0	0.00499	0	16	61		
DHRS11	79154	broad.mit.edu	37	17	34958603	34958603	+	IGR	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:34958603G>C	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_5'UTR|MRM1_ENST00000250156.7_Missense_Mutation_p.E122Q	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						TGTCTGCATGGAGGTGAGCCC	0.682																																						uc002hne.2		NaN																	0					0						c.(364-366)GAG>CAG		mitochondrial rRNA methyltransferase 1 homolog							19.0	23.0	22.0					17																	34958603		2183	4264	6447	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958603G>C		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958603G>C						MRM1_uc002hnf.2_5'UTR	p.E122Q	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	579	+		Breast(25;0.00957)|Ovarian(249;0.17)	122					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.364G>C	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053469	0.75960	.	.	ENSG00000129282	ENST00000250156	T	0.32988	1.43	4.9	4.9	0.64082	RNA 2-O ribose methyltransferase, substrate binding (2);	0.060910	0.64402	D	0.000003	T	0.40222	0.1108	L	0.41356	1.27	0.80722	D	1	P	0.50272	0.933	P	0.62014	0.897	T	0.06180	-1.0841	10	0.07482	T	0.82	-24.008	15.6051	0.76664	0.0:0.0:1.0:0.0	.	122	Q6IN84	MRM1_HUMAN	Q	122	ENSP00000250156:E122Q	ENSP00000250156:E122Q	E	+	1	0	MRM1	32032716	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.727000	0.61993	2.423000	0.82170	0.555000	0.69702	GAG		0.682	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2		NM_024308		3	35	0	0	0	0.004672	0	3	35		
ACACA	31	broad.mit.edu	37	17	35591979	35591979	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:35591979C>G	ENST00000394406.2	-	25	3236	c.3046G>C	c.(3046-3048)Gag>Cag	p.E1016Q	ACACA_ENST00000360679.3_Missense_Mutation_p.E958Q|ACACA_ENST00000353139.5_Missense_Mutation_p.E1053Q|ACACA_ENST00000335166.5_Missense_Mutation_p.E938Q	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1016					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTTTATTCTCTTCTCGGAGG	0.398																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(3046-3048)GAG>CAG		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						214.0	175.0	188.0					17																	35591979		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35591979C>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3046G>C	17.37:g.35591979C>G	ENSP00000377928:p.Glu1016Gln					ACACA_uc002hnk.2_Missense_Mutation_p.E938Q|ACACA_uc002hnl.2_Missense_Mutation_p.E958Q|ACACA_uc002hnn.2_Missense_Mutation_p.E1016Q|ACACA_uc002hno.2_Missense_Mutation_p.E1053Q|ACACA_uc010cuz.2_Missense_Mutation_p.E1016Q	p.E1016Q	NM_198836	NP_942133	Q13085	ACACA_HUMAN			25	3237	-		Breast(25;0.00157)|Ovarian(249;0.15)	1016					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3046G>C	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525706	0.27299	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.66	5.66	0.87406	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	N	0.05031	-0.125	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.11329	0.006;0.004;0.004	T	0.14615	-1.0466	10	0.05620	T	0.96	-6.8225	18.742	0.91777	0.0:1.0:0.0:0.0	.	1053;1016;958	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	Q	1053;958;1016;1040;938	ENSP00000344789:E1053Q;ENSP00000353898:E958Q;ENSP00000377928:E1016Q;ENSP00000335323:E938Q	ENSP00000335323:E938Q	E	-	1	0	ACACA	32666092	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	4.007000	0.57093	2.690000	0.91761	0.655000	0.94253	GAG		0.398	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836		19	57	0	0	0	0.006122	0	19	57		
MED1	5469	broad.mit.edu	37	17	37599809	37599809	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:37599809G>T	ENST00000394287.3	-	3	410	c.205C>A	c.(205-207)Ctc>Atc	p.L69I	MED1_ENST00000300651.6_Missense_Mutation_p.L69I			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AAACCTTTGAGAGCCTTCTGC	0.398										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NaN																	0				lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(205-207)CTC>ATC		mediator complex subunit 1							104.0	98.0	100.0					17																	37599809		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37599809G>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.205C>A	17.37:g.37599809G>T	ENSP00000377828:p.Leu69Ile	HNSCC(31;0.082)				MED1_uc010wee.1_5'UTR|MED1_uc002hru.2_Missense_Mutation_p.L69I	p.L69I	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	3	417	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	69			Interaction with ESR1.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	G	13.14	2.146844	0.37923	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.31510	1.49	5.22	5.22	0.72569	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.31420	0.0796	N	0.25825	0.765	0.39337	D	0.965519	D;P	0.67145	0.996;0.944	P;P	0.61070	0.883;0.572	T	0.09707	-1.0662	9	0.15499	T	0.54	-5.2905	7.2106	0.25931	0.2119:0.0:0.7881:0.0	.	69;69	Q15648;Q15648-3	MED1_HUMAN;.	I	69	ENSP00000300651:L69I	ENSP00000300651:L69I	L	-	1	0	MED1	34853335	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.865000	0.39479	2.442000	0.82660	0.650000	0.86243	CTC		0.398	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1		NM_004774		8	49	1	0	0.00448238	0.004482	0.00466866	8	49		
G6PC	2538	broad.mit.edu	37	17	41063350	41063350	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41063350C>T	ENST00000253801.2	+	5	1060	c.981C>T	c.(979-981)ttC>ttT	p.F327F	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	327			Missing (in GSD1A). {ECO:0000269|PubMed:11058903, ECO:0000269|PubMed:12373566}.		carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTGTCCTTCTGCAAGAGTG	0.577																																						uc002icb.1		NaN																	0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(979-981)TTC>TTT		glucose-6-phosphatase, catalytic subunit							141.0	138.0	139.0					17																	41063350		2203	4300	6503	SO:0001819	synonymous_variant	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063350C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.981C>T	17.37:g.41063350C>T						G6PC_uc010whf.1_3'UTR	p.F327F	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	1060	+		Breast(137;0.000143)	327		Missing (in GSD1A).	Helical; (Potential).		A1L4C0|B4E1C3|K7EL82	Silent	SNP	ENST00000253801.2	37	c.981C>T	CCDS11446.1																																																																																				0.577	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1		NM_000151		10	117	0	0	0	0.010729	0	10	117		
AARSD1	80755	broad.mit.edu	37	17	41105755	41105755	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41105755C>G	ENST00000427569.2	-	10	1029	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.E506Q|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.E445Q|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.E506Q|AARSD1_ENST00000416949.1_5'Flank|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.E415Q	NM_001261434.1	NP_001248363.1	Q9BTE6	AASD1_HUMAN	alanyl-tRNA synthetase domain containing 1	332					alanyl-tRNA aminoacylation (GO:0006419)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	alanine-tRNA ligase activity (GO:0004813)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|Ser-tRNA(Ala) hydrolase activity (GO:0002196)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GACCCAATCTCATTGGCAATG	0.502																																						uc002icc.2		NaN																	0					0						c.(994-996)GAG>CAG		alanyl-tRNA synthetase domain containing 1							170.0	141.0	151.0					17																	41105755		2203	4300	6503	SO:0001583	missense	80755				alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding	g.chr17:41105755C>G	BC004172	CCDS11447.1, CCDS45691.1, CCDS58552.1	17q21.31	2012-10-05			ENSG00000266967	ENSG00000266967			28417	protein-coding gene	gene with protein product		613212					Standard	NM_001261434		Approved	MGC2744		Q9BTE6	OTTHUMG00000153515	ENST00000427569.2:c.994G>C	17.37:g.41105755C>G	ENSP00000400870:p.Glu332Gln					AARSD1_uc002icd.2_Missense_Mutation_p.E445Q|AARSD1_uc002ice.2_Missense_Mutation_p.E415Q|AARSD1_uc002icf.2_Missense_Mutation_p.E506Q|AARSD1_uc010whg.1_Missense_Mutation_p.E506Q	p.E332Q	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	10	997	-		Breast(137;0.00499)	332					B4DI73	Missense_Mutation	SNP	ENST00000427569.2	37	c.994G>C	CCDS58552.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.709919	0.89018	.	.	ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000427569;ENST00000409103	T;T	0.47177	0.85;0.85	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	M	0.86573	2.825	0.36943	D	0.892454	D;D;D;P	0.56746	0.977;0.963;0.963;0.774	P;P;P;P	0.54965	0.765;0.655;0.761;0.602	T	0.66217	-0.5979	9	0.22706	T	0.39	-34.6466	19.2863	0.94072	0.0:1.0:0.0:0.0	.	506;415;463;332	B4DI73;C9J5N1;B3KSP9;Q9BTE6	.;.;.;AASD1_HUMAN	Q	445;506;506;332;415	ENSP00000386621:E506Q;ENSP00000409924:E506Q	ENSP00000353355:E445Q	E	-	1	0	AARSD1	38359281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.782000	0.95742	0.556000	0.70494	GAG		0.502	AARSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467729.1		NM_001261434		8	54	0	0	0	0.00308	0	8	54		
BRCA1	672	broad.mit.edu	37	17	41203122	41203122	+	Missense_Mutation	SNP	G	G	T	rs80357886|rs397507248|rs397509255		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:41203122G>T	ENST00000357654.3	-	20	5408	c.5290C>A	c.(5290-5292)Cta>Ata	p.L1764I	BRCA1_ENST00000591534.1_Missense_Mutation_p.L255I|BRCA1_ENST00000491747.2_Missense_Mutation_p.L660I|BRCA1_ENST00000346315.3_Missense_Mutation_p.L1525I|BRCA1_ENST00000468300.1_Missense_Mutation_p.L660I|BRCA1_ENST00000354071.3_Missense_Mutation_p.L1499I|BRCA1_ENST00000309486.4_Missense_Mutation_p.L1468I|BRCA1_ENST00000471181.2_Missense_Mutation_p.L1785I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Missense_Mutation_p.L74I|BRCA1_ENST00000352993.3_Missense_Mutation_p.L622I|BRCA1_ENST00000351666.3_Missense_Mutation_p.L581I|BRCA1_ENST00000493795.1_Missense_Mutation_p.L1717I	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1764	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.		L -> P (in BC; unknown pathological significance; functionally impaired in vitro). {ECO:0000269|PubMed:17924331}.		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CAGATTTCTAGCCCCCTGAAG	0.463			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52	GRCh37	CI984085	BRCA1	I		c.(5290-5292)CTA>ATA	Homologous_recombination	breast cancer 1, early onset isoform 1							68.0	67.0	67.0					17																	41203122		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41203122G>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5290C>A	17.37:g.41203122G>T	ENSP00000350283:p.Leu1764Ile	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Missense_Mutation_p.L613I|BRCA1_uc010whl.1_Missense_Mutation_p.L660I|BRCA1_uc010whm.1_Missense_Mutation_p.L74I|BRCA1_uc002icp.3_Missense_Mutation_p.L1693I|BRCA1_uc002icu.2_Missense_Mutation_p.L660I|BRCA1_uc010cyx.2_Missense_Mutation_p.L1717I|BRCA1_uc002ict.2_Missense_Mutation_p.L1785I|BRCA1_uc010whn.1_Missense_Mutation_p.L255I|BRCA1_uc010who.1_Intron	p.L1764I	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	20	5522	-		Breast(137;0.000717)	1764		L -> P (in BC; unknown pathological significance).	BRCT 2.		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.5290C>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608935	0.66558	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747	T;T;T;T;T;T;D;T;T	0.87887	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-2.31;-1.35;-1.35	5.06	0.549	0.17213	BRCT (4);	0.000000	0.40302	N	0.001124	D	0.89532	0.6742	L	0.56769	1.78	0.25603	N	0.986576	D;P;D;D;D;B;D	0.71674	0.997;0.929;0.998;0.978;0.998;0.004;0.998	D;P;D;D;D;B;D	0.87578	0.995;0.706;0.998;0.992;0.998;0.016;0.997	T	0.80770	-0.1234	10	0.87932	D	0	.	6.834	0.23925	0.4426:0.0:0.5574:0.0	.	613;74;659;660;1786;1764;1764	B4DES0;C6YB45;E7ETR2;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;BRCA1_HUMAN;.	I	1764;1785;1499;622;1525;581;1468;660;613;1786;1717;659	ENSP00000350283:L1764I;ENSP00000326002:L1499I;ENSP00000312236:L622I;ENSP00000246907:L1525I;ENSP00000338007:L581I;ENSP00000310938:L1468I;ENSP00000417148:L660I;ENSP00000377294:L613I;ENSP00000418775:L1717I	ENSP00000310938:L1468I	L	-	1	2	BRCA1	38456648	1.000000	0.71417	0.987000	0.45799	0.931000	0.56810	0.943000	0.29030	0.054000	0.16065	0.561000	0.74099	CTA		0.463	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2		NM_007294		8	40	1	0	0.00307968	0.00308	0.00322442	8	40		
SPPL2C	162540	broad.mit.edu	37	17	43923859	43923859	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:43923859G>A	ENST00000329196.5	+	1	1604	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	529						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GGACTGGCCAGGGCAGAGCTA	0.632																																						uc010wka.1		NaN																	0				pancreas(2)	2						c.(1585-1587)CAG>CAA		intramembrane protease 5 precursor							52.0	53.0	53.0					17																	43923859		2203	4300	6503	SO:0001819	synonymous_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923859G>A		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1587G>A	17.37:g.43923859G>A						LOC100128977_uc010wjz.1_Intron	p.Q529Q	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	1587	+	Colorectal(2;0.0416)		529			Extracellular (Potential).		Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	c.1587G>A	CCDS32673.1																																																																																				0.632	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1		NM_175882		11	55	0	0	0	0.008291	0	11	55		
METTL2A	339175	broad.mit.edu	37	17	60501649	60501649	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:60501649G>T	ENST00000311506.5	+	2	216	c.180G>T	c.(178-180)caG>caT	p.Q60H		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	60					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACAGTATCCAGCGGGTGTGCC	0.592											OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002izv.2		NaN																	0					0						c.(178-180)CAG>CAT		methyltransferase like 2A							90.0	124.0	114.0					17																	60501649		692	1591	2283	SO:0001583	missense	339175						methyltransferase activity	g.chr17:60501649G>T	AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.180G>T	17.37:g.60501649G>T	ENSP00000309610:p.Gln60His		OREG0024635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1046	METTL2A_uc002izw.2_5'UTR	p.Q60H	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.08e-10)		2	198	+			60					A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	ENST00000311506.5	37	c.180G>T	CCDS45752.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471534	0.63737	.	.	ENSG00000087995	ENST00000311506;ENST00000333483	D	0.82255	-1.59	5.14	3.93	0.45458	.	0.329814	0.32518	N	0.005988	T	0.73885	0.3644	L	0.33339	1.005	0.44254	D	0.997108	B	0.14012	0.009	B	0.19946	0.027	T	0.70392	-0.4884	10	0.42905	T	0.14	-4.7789	11.003	0.47618	0.1304:0.0:0.8696:0.0	.	60	Q96IZ6	MTL2A_HUMAN	H	60	ENSP00000309610:Q60H	ENSP00000309610:Q60H	Q	+	3	2	METTL2A	57855381	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	2.978000	0.49305	2.550000	0.86006	0.555000	0.69702	CAG		0.592	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445130.1		NM_181725		3	30	1	0	0.00024832	0.009096	0.000263429	3	30		
TLK2	11011	broad.mit.edu	37	17	60629727	60629727	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:60629727A>G	ENST00000326270.9	+	8	864	c.596A>G	c.(595-597)aAa>aGa	p.K199R	RP11-464D20.6_ENST00000583426.1_RNA|TLK2_ENST00000542523.1_Missense_Mutation_p.K167R|TLK2_ENST00000346027.5_Missense_Mutation_p.K199R|TLK2_ENST00000343388.7_Missense_Mutation_p.K167R|TLK2_ENST00000582809.1_Missense_Mutation_p.K50R	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	199					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGCTCCCAAAAACAGATCTCC	0.478																																						uc010ddp.2		NaN																	0				stomach(1)|kidney(1)	2						c.(595-597)AAA>AGA		tousled-like kinase 2 isoform A							32.0	28.0	30.0					17																	60629727		2202	4297	6499	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60629727A>G	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.596A>G	17.37:g.60629727A>G	ENSP00000316512:p.Lys199Arg					TLK2_uc002izx.3_Missense_Mutation_p.K47R|TLK2_uc002izz.3_Missense_Mutation_p.K199R|TLK2_uc002jaa.3_Missense_Mutation_p.K167R|TLK2_uc010wpd.1_Missense_Mutation_p.K167R	p.K199R	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			8	864	+			199					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.596A>G		.	.	.	.	.	.	.	.	.	.	A	13.82	2.350144	0.41599	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.08	5.08	0.68730	.	0.159281	0.56097	D	0.000035	T	0.70684	0.3252	L	0.27053	0.805	0.53688	D	0.999974	B;B;B;P	0.45569	0.034;0.095;0.096;0.861	B;B;B;B	0.38378	0.049;0.051;0.049;0.272	T	0.69465	-0.5138	10	0.13853	T	0.58	-2.1026	14.066	0.64828	1.0:0.0:0.0:0.0	.	199;167;199;199	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	R	199;167;199;167	ENSP00000275780:K199R;ENSP00000340800:K167R;ENSP00000316512:K199R;ENSP00000442311:K167R	ENSP00000316512:K199R	K	+	2	0	TLK2	57983459	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.144000	0.64832	1.915000	0.55452	0.455000	0.32223	AAA		0.478	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1		NM_006852		5	25	0	0	0	0.004482	0	5	25		
GNA13	10672	broad.mit.edu	37	17	63010911	63010911	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:63010911T>C	ENST00000439174.2	-	4	843	c.598A>G	c.(598-600)Aga>Gga	p.R200G	GNA13_ENST00000541118.1_Missense_Mutation_p.R105G	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	200					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTGGGTCTTCTGGCAAGCAGA	0.353																																						uc002jfc.2		NaN																	0					0						c.(598-600)AGA>GGA		guanine nucleotide binding protein (G protein),							64.0	64.0	64.0					17																	63010911		2203	4300	6503	SO:0001583	missense	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010911T>C	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.598A>G	17.37:g.63010911T>C	ENSP00000400717:p.Arg200Gly					GNA13_uc010wqh.1_Missense_Mutation_p.R105G	p.R200G	NM_006572	NP_006563	Q14344	GNA13_HUMAN			4	807	-			200			GTP (By similarity).		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	c.598A>G	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492304	0.64074	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.92099	-2.97;-2.97	5.99	3.73	0.42828	G protein alpha subunit, helical insertion (1);	0.045670	0.85682	D	0.000000	D	0.95576	0.8562	H	0.95745	3.715	0.54753	D	0.999987	P	0.52577	0.954	P	0.50934	0.654	D	0.95920	0.8930	10	0.87932	D	0	.	12.5436	0.56186	0.0:0.0:0.5367:0.4633	.	200	Q14344	GNA13_HUMAN	G	200;105;175	ENSP00000400717:R200G;ENSP00000439647:R105G	ENSP00000239138:R175G	R	-	1	2	GNA13	60441373	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	0.402000	0.20965	1.066000	0.40716	0.449000	0.29647	AGA		0.353	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1		NM_006572		19	49	0	0	0	0.008871	0	19	49		
AMZ2	51321	broad.mit.edu	37	17	66247008	66247008	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:66247008C>G	ENST00000359904.3	+	3	1489	c.357C>G	c.(355-357)ttC>ttG	p.F119L	AMZ2_ENST00000577273.1_Missense_Mutation_p.F119L|AMZ2_ENST00000392720.2_Missense_Mutation_p.F119L|AMZ2_ENST00000577985.1_Missense_Mutation_p.F119L|RP11-147L13.2_ENST00000577698.1_RNA|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000577866.1_Missense_Mutation_p.F119L|AMZ2_ENST00000580753.1_Missense_Mutation_p.F119L	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	119							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGCATATTTCTATGGCTTGA	0.368																																						uc002jgs.1		NaN																	0					0						c.(355-357)TTC>TTG		archaemetzincins-2 isoform 1							63.0	65.0	65.0					17																	66247008		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66247008C>G	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.357C>G	17.37:g.66247008C>G	ENSP00000352976:p.Phe119Leu					AMZ2_uc002jgr.1_Missense_Mutation_p.F119L|AMZ2_uc002jgt.1_Missense_Mutation_p.F119L|AMZ2_uc002jgu.1_Missense_Mutation_p.F119L|AMZ2_uc002jgv.1_Missense_Mutation_p.F119L|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Missense_Mutation_p.F119L	p.F119L	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	474	+	all_cancers(12;1.12e-09)		119					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.357C>G	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	C	9.590	1.125916	0.20959	.	.	ENSG00000196704	ENST00000359904;ENST00000392720	T;T	0.41400	1.0;1.0	3.08	1.02	0.19986	.	0.251878	0.26959	N	0.021635	T	0.36026	0.0952	M	0.73962	2.25	0.31804	N	0.62807	P	0.48294	0.908	B	0.38106	0.265	T	0.51188	-0.8737	10	0.59425	D	0.04	-27.5212	6.8266	0.23887	0.0:0.7413:0.0:0.2587	.	119	Q86W34	AMZ2_HUMAN	L	119	ENSP00000352976:F119L;ENSP00000376481:F119L	ENSP00000352976:F119L	F	+	3	2	AMZ2	63758603	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	0.700000	0.25601	0.625000	0.30304	0.306000	0.20318	TTC		0.368	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1		NM_016627		8	59	0	0	0	0.00308	0	8	59		
C17orf77	146723	broad.mit.edu	37	17	72588357	72588358	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72588357_72588358CC>AG	ENST00000392620.1	+	3	534_535	c.172_173CC>AG	c.(172-174)CCt>AGt	p.P58S	C17orf77_ENST00000328023.2_Missense_Mutation_p.P58S|CD300LD_ENST00000375352.1_5'UTR	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	58						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGTCTCCTCTCCTCTCCTTGGT	0.55																																						uc002jla.1		NaN																	0					0						c.(172-174)CCT>AGT		hypothetical protein LOC146723																																				SO:0001583	missense	146723					extracellular region		g.chr17:72588357_72588358CC>AG		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	Exception_encountered	17.37:g.72588357_72588358delinsAG	ENSP00000376396:p.Pro58Ser					CD300LD_uc002jkz.2_5'UTR	p.P58S	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	534_535	+			58						Missense_Mutation	DNP	ENST00000392620.1	37	c.172_173CC>AG	CCDS32721.1																																																																																				0.550	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2		NM_152460		11	52	0	0	0	0.004672	0	11	52		
USH1G	124590	broad.mit.edu	37	17	72915769	72915769	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:72915769C>T	ENST00000319642.1	-	2	1344	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	388	SAM.				equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGCTAGTCTCGGGCTCCAGG	0.632																																						uc002jme.1		NaN																	0				skin(2)	2						c.(1162-1164)GAG>AAG		Usher syndrome 1G protein							40.0	39.0	40.0					17																	72915769		2203	4299	6502	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915769C>T	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1162G>A	17.37:g.72915769C>T	ENSP00000320076:p.Glu388Lys					USH1G_uc010wro.1_Missense_Mutation_p.E285K	p.E388K	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			2	1345	-	all_lung(278;0.172)|Lung NSC(278;0.207)		388			SAM.		Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.1162G>A	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107538	0.77096	.	.	ENSG00000182040	ENST00000319642	T	0.71579	-0.58	4.53	4.53	0.55603	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);	0.232046	0.43416	D	0.000562	T	0.72890	0.3517	L	0.58101	1.795	0.51767	D	0.999937	D	0.57571	0.98	P	0.47044	0.535	T	0.77945	-0.2397	10	0.62326	D	0.03	-27.1711	17.5258	0.87800	0.0:1.0:0.0:0.0	.	388	Q495M9	USH1G_HUMAN	K	388	ENSP00000320076:E388K	ENSP00000320076:E388K	E	-	1	0	USH1G	70427364	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.653000	0.61462	2.383000	0.81215	0.555000	0.69702	GAG		0.632	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1		NM_173477		7	41	0	0	0	0.00308	0	7	41		
CASKIN2	57513	broad.mit.edu	37	17	73498743	73498743	+	Silent	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:73498743A>T	ENST00000321617.3	-	18	2998	c.2412T>A	c.(2410-2412)ccT>ccA	p.P804P	CASKIN2_ENST00000433559.2_Silent_p.P722P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	804	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGTGGGGCCAGGGCGGCTTA	0.711																																						uc002joc.2		NaN																	0				pancreas(1)	1						c.(2410-2412)CCT>CCA		cask-interacting protein 2 isoform a							16.0	18.0	17.0					17																	73498743		2193	4296	6489	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498743A>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2412T>A	17.37:g.73498743A>T						CASKIN2_uc010wsc.1_Silent_p.P722P	p.P804P	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2962	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		804			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2412T>A	CCDS11723.1																																																																																				0.711	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1		NM_020753		3	6	0	0	0	0.004672	0	3	6		
H3F3B	3021	broad.mit.edu	37	17	73780818	73780818	+	Intron	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:73780818G>A	ENST00000586607.1	-	1	111				UNK_ENST00000589666.1_5'Flank|MIR4738_ENST00000579134.1_RNA|UNK_ENST00000293218.3_Missense_Mutation_p.E29K			P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)						blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGACATAGAACCACAACT	0.637																																						uc002jpm.2		NaN																	0					0						c.(85-87)GAA>AAA		zinc finger CCCH-type domain containing 5							29.0	35.0	33.0					17																	73780818		1918	4135	6053	SO:0001627	intron_variant	85451						nucleic acid binding|zinc ion binding	g.chr17:73780818G>A	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000586607.1:c.9+638C>T	17.37:g.73780818G>A						UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA	p.E29K	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		2	85	+			Error:Variant_position_missing_in_Q9C0B0_after_alignment					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000586607.1	37	c.85G>A	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330453	0.41297	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.99	1.58	0.23477	.	.	.	.	.	T	0.23611	0.0571	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.22277	-1.0221	5	0.22109	T	0.4	.	5.962	0.19305	0.1278:0.1111:0.6464:0.1147	.	.	.	.	K	29	.	ENSP00000293218:E29K	E	+	1	0	UNK	71292413	0.979000	0.34478	0.487000	0.27428	0.405000	0.30901	2.203000	0.42752	0.858000	0.35431	0.655000	0.94253	GAA		0.637	H3F3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448507.1		NM_005324		3	21	0	0	0	0.004672	0	3	21		
EVPL	2125	broad.mit.edu	37	17	74005731	74005731	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:74005731C>T	ENST00000301607.3	-	22	3808	c.3555G>A	c.(3553-3555)aaG>aaA	p.K1185K	EVPL_ENST00000586740.1_Silent_p.K1207K	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1185	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGCCTCTGCTTCTCCACCA	0.632																																						uc002jqi.2		NaN																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(3553-3555)AAG>AAA		envoplakin							58.0	49.0	52.0					17																	74005731		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005731C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3555G>A	17.37:g.74005731C>T						EVPL_uc010wss.1_Silent_p.K1207K|EVPL_uc010wst.1_Silent_p.K655K	p.K1185K	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	3783	-			1185			Central fibrous rod domain.|Plectin 1.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.3555G>A	CCDS11737.1																																																																																				0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1		NM_001988		4	57	0	0	0	0.009096	0	4	57		
ALYREF	10189	broad.mit.edu	37	17	79846256	79846256	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:79846256C>G	ENST00000331204.4	-	5	646	c.620G>C	c.(619-621)gGa>gCa	p.G207A	ALYREF_ENST00000512673.1_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.G214A|ANAPC11_ENST00000571570.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	207	Ala/Arg/Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										ACCAAAACCTCCAGCGCCACG	0.612																																						uc002kbu.2		NaN																	0					0						c.(640-642)GGA>GCA		THO complex 4							44.0	49.0	47.0					17																	79846256		2203	4298	6501	SO:0001583	missense	10189				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding	g.chr17:79846256C>G	AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.620G>C	17.37:g.79846256C>G	ENSP00000331817:p.Gly207Ala						p.G214A	NM_005782	NP_005773	Q86V81	THOC4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	647	-	all_neural(118;0.0878)|Ovarian(332;0.12)		207			Ala/Arg/Gly-rich.		O43672	Missense_Mutation	SNP	ENST00000331204.4	37	c.641G>C		.	.	.	.	.	.	.	.	.	.	C	16.19	3.052751	0.55218	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	D;D	0.83914	-1.78;-1.78	5.33	4.36	0.52297	.	0.184440	0.47455	D	0.000222	T	0.81574	0.4851	L	0.58428	1.81	0.40320	D	0.978819	P	0.45768	0.866	P	0.48270	0.572	T	0.79057	-0.1959	10	0.07175	T	0.84	.	13.8477	0.63477	0.0:0.9267:0.0:0.0733	.	214	E9PB61	.	A	207;214	ENSP00000331817:G207A;ENSP00000421592:G214A	ENSP00000331817:G207A	G	-	2	0	THOC4	77439552	0.910000	0.30920	0.081000	0.20488	0.916000	0.54674	3.947000	0.56652	1.474000	0.48178	0.655000	0.94253	GGA		0.612	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_005782		8	15	0	0	0	0.00308	0	8	15		
LPIN2	9663	broad.mit.edu	37	18	2939525	2939525	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:2939525C>T	ENST00000261596.4	-	6	1013	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	259					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATGTGAGACTCTGATCTGAGC	0.512																																						uc002klo.2		NaN																	0				ovary(1)|skin(1)	2						c.(775-777)GAG>AAG		lipin 2							130.0	119.0	123.0					18																	2939525		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2939525C>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.775G>A	18.37:g.2939525C>T	ENSP00000261596:p.Glu259Lys						p.E259K	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	6	1014	-			259					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.775G>A	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	C	36	5.713110	0.96830	.	.	ENSG00000101577	ENST00000261596	D	0.82081	-1.57	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87838	0.2649	10	0.14252	T	0.57	-34.9003	20.4024	0.99000	0.0:1.0:0.0:0.0	.	259	Q92539	LPIN2_HUMAN	K	259	ENSP00000261596:E259K	ENSP00000261596:E259K	E	-	1	0	LPIN2	2929525	1.000000	0.71417	0.958000	0.39756	0.932000	0.56968	7.440000	0.80464	2.827000	0.97445	0.650000	0.86243	GAG		0.512	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2		NM_014646		41	36	0	0	0	0.00623	0	41	36		
SLC14A1	6563	broad.mit.edu	37	18	43319618	43319618	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr18:43319618C>T	ENST00000321925.4	+	8	1169	c.937C>T	c.(937-939)Ctt>Ttt	p.L313F	SLC14A1_ENST00000591541.1_Missense_Mutation_p.L17F|SLC14A1_ENST00000402943.2_Missense_Mutation_p.L208F|SLC14A1_ENST00000436407.3_Missense_Mutation_p.L369F|SLC14A1_ENST00000535474.1_Missense_Mutation_p.L181F|SLC14A1_ENST00000586142.1_Missense_Mutation_p.L313F|SLC14A1_ENST00000415427.3_Missense_Mutation_p.L369F|SLC14A1_ENST00000502059.2_Missense_Mutation_p.L205F|RP11-116O18.3_ENST00000586213.1_RNA|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000589700.1_Silent_p.L263L	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	313					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.L313V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCTCCTGGCTCTTGGCTGTGG	0.532																																						uc010xcn.1		NaN																	1	Substitution - Missense(1)		prostate(1)	central_nervous_system(1)|pancreas(1)	2						c.(937-939)CTT>TTT		solute carrier family 14 (urea transporter),							82.0	72.0	75.0					18																	43319618		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43319618C>T	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.937C>T	18.37:g.43319618C>T	ENSP00000318546:p.Leu313Phe					SLC14A1_uc010dnk.2_Missense_Mutation_p.L369F|SLC14A1_uc002lbf.3_Missense_Mutation_p.L313F|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.L208F|SLC14A1_uc002lbh.3_Missense_Mutation_p.L205F|SLC14A1_uc002lbi.3_Missense_Mutation_p.L181F|SLC14A1_uc002lbj.3_Missense_Mutation_p.L369F|SLC14A1_uc002lbk.3_Missense_Mutation_p.L313F	p.L313F	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			9	1256	+			313			Helical; (Potential).		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.937C>T	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637498	0.67130	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	5.62	5.62	0.85841	.	0.097389	0.44902	D	0.000417	T	0.77579	0.4151	M	0.86502	2.82	0.35807	D	0.823564	D;P;D	0.71674	0.998;0.607;0.996	D;P;D	0.73380	0.962;0.61;0.98	D	0.84113	0.0402	10	0.51188	T	0.08	-15.8721	13.0783	0.59099	0.2724:0.7276:0.0:0.0	.	369;205;313	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	F	313;369;205;208;181;369	ENSP00000318546:L313F;ENSP00000412309:L369F;ENSP00000442180:L205F;ENSP00000385320:L208F;ENSP00000441998:L181F;ENSP00000390637:L369F	ENSP00000318546:L313F	L	+	1	0	SLC14A1	41573616	0.421000	0.25465	1.000000	0.80357	0.941000	0.58515	0.364000	0.20325	2.640000	0.89533	0.591000	0.81541	CTT		0.532	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2		NM_015865		9	35	0	0	0	0.004482	0	9	35		
ELANE	1991	broad.mit.edu	37	19	855684	855684	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:855684C>T	ENST00000590230.1	+	5	628	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	ELANE_ENST00000263621.1_Missense_Mutation_p.R163C			P08246	ELNE_HUMAN	elastase, neutrophil expressed	163	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute inflammatory response to antigenic stimulus (GO:0002438)|cellular calcium ion homeostasis (GO:0006874)|collagen catabolic process (GO:0030574)|defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of chemotaxis (GO:0050922)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil mediated killing of fungus (GO:0070947)|phagocytosis (GO:0006909)|positive regulation of immune response (GO:0050778)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)|response to UV (GO:0009411)|response to yeast (GO:0001878)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|transcriptional repressor complex (GO:0017053)	cytokine binding (GO:0019955)|endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|RNA polymerase II transcription corepressor activity (GO:0001106)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGGCAGGAACCGTGGGATCGC	0.706																																						uc002lqb.2		NaN																	0				pancreas(1)	1						c.(487-489)CGT>TGT		neutrophil elastase preproprotein	Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)						75.0	69.0	71.0					19																	855684		2203	4299	6502	SO:0001583	missense	1991	Kostmann_syndrome			cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding	g.chr19:855684C>T		CCDS12045.1	19p13.3	2014-09-17	2009-05-05	2009-05-05	ENSG00000197561	ENSG00000197561	3.4.21.37		3309	protein-coding gene	gene with protein product	"""neutrophil elastase"", ""leukocyte elastase"", ""medullasin"""	130130	"""elastase 2, neutrophil"""	ELA2		2902087	Standard	XM_005259517		Approved	NE, HNE, HLE	uc002lqb.3	P08246		ENST00000590230.1:c.487C>T	19.37:g.855684C>T	ENSP00000466090:p.Arg163Cys						p.R163C	NM_001972	NP_001963	P08246	ELNE_HUMAN			4	525	+			163			Peptidase S1.		P09649|Q6B0D9|Q6LDP5	Missense_Mutation	SNP	ENST00000590230.1	37	c.487C>T	CCDS12045.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753058	0.31046	.	.	ENSG00000197561	ENST00000263621	D	0.89196	-2.48	4.42	0.73	0.18271	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.459089	0.15414	U	0.263621	D	0.86167	0.5868	L	0.28054	0.825	0.09310	N	1	D	0.76494	0.999	P	0.59012	0.85	T	0.75703	-0.3225	10	0.72032	D	0.01	.	5.8998	0.18960	0.3963:0.4246:0.1791:0.0	.	163	P08246	ELNE_HUMAN	C	163	ENSP00000263621:R163C	ENSP00000263621:R163C	R	+	1	0	ELANE	806684	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.253000	0.18296	0.929000	0.37192	0.462000	0.41574	CGT		0.706	ELANE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457890.2		NM_001972		10	50	0	0	0	0.010729	0	10	50		
MFSD12	126321	broad.mit.edu	37	19	3548011	3548011	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:3548011C>A	ENST00000355415.2	-	4	841	c.672G>T	c.(670-672)gtG>gtT	p.V224V	MFSD12_ENST00000398558.4_Silent_p.V224V|MFSD12_ENST00000389395.3_Silent_p.V224V|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	224					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CGACACCCACCACCAGCAGGG	0.701																																						uc002lxz.2		NaN																	0				breast(1)|pancreas(1)	2						c.(670-672)GTG>GTT		hypothetical protein LOC126321 isoform c							19.0	25.0	23.0					19																	3548011		1991	4144	6135	SO:0001819	synonymous_variant	126321				transmembrane transport	integral to membrane		g.chr19:3548011C>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.672G>T	19.37:g.3548011C>A						C19orf28_uc002lxw.2_Silent_p.V224V|C19orf28_uc002lxx.2_Silent_p.V224V|C19orf28_uc002lxy.2_Silent_p.V215V	p.V224V	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	4	842	-		Hepatocellular(1079;0.137)	224			Helical; (Potential).		A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	ENST00000355415.2	37	c.672G>T	CCDS42465.1																																																																																				0.701	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2		NM_174983		3	23	1	0	0.004672	0.004672	0.00484101	3	23		
DNM2	1785	broad.mit.edu	37	19	10883223	10883223	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:10883223G>A	ENST00000355667.6	+	3	384	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	DNM2_ENST00000408974.4_Missense_Mutation_p.E102K|DNM2_ENST00000585892.1_Missense_Mutation_p.E102K|DNM2_ENST00000314646.5_Missense_Mutation_p.E102K|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000359692.6_Missense_Mutation_p.E102K|DNM2_ENST00000389253.4_Missense_Mutation_p.E102K	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	102	Dynamin-type G.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCAGGAGATTGAAGCAGAGAC	0.522			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mps.1		NaN		Rec	yes		19	19p13.2	1785		dynamin 2			L					0				central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6						c.(304-306)GAA>AAA		dynamin 2 isoform 2							106.0	91.0	96.0					19																	10883223		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10883223G>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.304G>A	19.37:g.10883223G>A	ENSP00000347890:p.Glu102Lys					DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.E102K|DNM2_uc002mpv.1_Missense_Mutation_p.E102K|DNM2_uc002mpu.1_Missense_Mutation_p.E102K|DNM2_uc010dxl.1_Missense_Mutation_p.E102K	p.E102K	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		3	468	+			102					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.304G>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888280	0.97068	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.47	5.47	0.80525	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	M	0.79475	2.455	0.80722	D	1	P;D;D;D	0.63880	0.698;0.993;0.987;0.968	B;P;P;P	0.61722	0.361;0.893;0.871;0.511	D	0.98708	1.0703	10	0.62326	D	0.03	-3.1261	18.096	0.89490	0.0:0.0:1.0:0.0	.	102;102;102;102	A8K1B6;P50570-2;P50570;E9PEQ4	.;.;DYN2_HUMAN;.	K	91;102;102;102;102;102	ENSP00000386192:E102K;ENSP00000347890:E102K;ENSP00000352721:E102K;ENSP00000373905:E102K;ENSP00000313164:E102K	ENSP00000313164:E102K	E	+	1	0	DNM2	10744223	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.858000	0.99539	2.581000	0.87130	0.563000	0.77884	GAA		0.522	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1		NM_004945		13	90	0	0	0	0.001855	0	13	90		
ZNF709	163051	broad.mit.edu	37	19	12595589	12595589	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:12595589G>T	ENST00000397732.3	-	0	54				ZNF709_ENST00000428311.1_Intron|CTD-3105H18.18_ENST00000598753.1_De_novo_Start_OutOfFrame	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GGAGACCCCAGAGCGGAGCGC	0.682																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.3		NaN																	0					0						c.(-119--115)CTCTG>CTATG		zinc finger protein 709 isoform a																																						163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12595589G>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.-118C>A	19.37:g.12595589G>T						ZNF709_uc002mtw.3_Intron|ZNF709_uc002mtx.3_Intron		NM_152601	NP_689814	Q8N972	ZN709_HUMAN			1	44	-								A8K4E6	Translation_Start_Site	SNP	ENST00000397732.3	37	c.-117C>A	CCDS42504.1																																																																																				0.682	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1		NM_152601		3	17	1	0	0.004672	0.004672	0.00484101	3	17		
CC2D1A	54862	broad.mit.edu	37	19	14037643	14037643	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:14037643C>G	ENST00000318003.7	+	20	2324	c.2083C>G	c.(2083-2085)Cag>Gag	p.Q695E	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Q695E	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	695	C2.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGAAGAAGCTCAGAAAGACAA	0.587																																						uc002mxo.2		NaN																	0					0						c.(2083-2085)CAG>GAG		coiled-coil and C2 domain containing 1A							85.0	93.0	90.0					19																	14037643		1997	4158	6155	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14037643C>G	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2083C>G	19.37:g.14037643C>G	ENSP00000313601:p.Gln695Glu					CC2D1A_uc002mxp.2_Missense_Mutation_p.Q695E|CC2D1A_uc010dzh.2_Missense_Mutation_p.Q264E|CC2D1A_uc002mxq.1_Missense_Mutation_p.Q340E	p.Q695E	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		20	2382	+			695			C2.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.2083C>G	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	c	16.58	3.164321	0.57476	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.28069	1.63	4.93	4.93	0.64822	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	M	0.81497	2.545	0.80722	D	1	B;B;B	0.20459	0.045;0.003;0.016	B;B;B	0.26693	0.072;0.007;0.036	T	0.38265	-0.9669	10	0.44086	T	0.13	-19.0176	16.9045	0.86123	0.0:1.0:0.0:0.0	.	317;695;695	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	E	695;318	ENSP00000313601:Q695E	ENSP00000254346:Q318E	Q	+	1	0	CC2D1A	13898643	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.662000	0.74426	2.279000	0.76181	0.561000	0.74099	CAG		0.587	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1		NM_017721		14	46	0	0	0	0.001855	0	14	46		
OR7C1	26664	broad.mit.edu	37	19	14910225	14910225	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:14910225C>T	ENST00000248073.2	-	1	798	c.724G>A	c.(724-726)Ggt>Agt	p.G242S	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	242					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGGTGGGAACCACAGGTGGAA	0.463																																						uc010xnz.1		NaN																	0				ovary(2)	2						c.(724-726)GGT>AGT		olfactory receptor, family 7, subfamily C,							74.0	70.0	72.0					19																	14910225		2203	4300	6503	SO:0001583	missense	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910225C>T	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.724G>A	19.37:g.14910225C>T	ENSP00000248073:p.Gly242Ser						p.G242S	NM_198944	NP_945182	O76099	OR7C1_HUMAN			1	724	-			242			Helical; Name=6; (Potential).		Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	c.724G>A	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	c	15.74	2.921525	0.52653	.	.	ENSG00000127530	ENST00000248073	T	0.35973	1.28	3.64	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35466	U	0.003198	T	0.44307	0.1287	L	0.28054	0.825	0.20563	N	0.99989	D	0.71674	0.998	D	0.71414	0.973	T	0.25984	-1.0116	10	0.59425	D	0.04	.	13.18	0.59649	0.0:1.0:0.0:0.0	.	242	O76099	OR7C1_HUMAN	S	242	ENSP00000248073:G242S	ENSP00000248073:G242S	G	-	1	0	OR7C1	14771225	0.000000	0.05858	0.256000	0.24389	0.011000	0.07611	-2.759000	0.00787	2.024000	0.59613	0.543000	0.68304	GGT		0.463	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1				9	78	0	0	0	0.004482	0	9	78		
CALR3	125972	broad.mit.edu	37	19	16601209	16601209	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:16601209C>T	ENST00000269881.3	-	3	428	c.366G>A	c.(364-366)ctG>ctA	p.L122L	CTD-3222D19.2_ENST00000409035.1_Intron	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	122	N-domain.				cell differentiation (GO:0030154)|protein folding (GO:0006457)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						ATTTTCCATTCAGGTTCTTCT	0.423																																						uc002ned.2		NaN																	0					0						c.(364-366)CTG>CTA		calreticulin 3 precursor							140.0	127.0	131.0					19																	16601209		2203	4300	6503	SO:0001819	synonymous_variant	125972				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding	g.chr19:16601209C>T	AK058084	CCDS12344.1	19p13.11	2014-09-17				ENSG00000269058			20407	protein-coding gene	gene with protein product	"""cancer/testis antigen 93"", ""calsperin"""	611414				12384296	Standard	NM_145046		Approved	CRT2, FLJ25355, MGC26577, CT93	uc002ned.3	Q96L12		ENST00000269881.3:c.366G>A	19.37:g.16601209C>T						MED26_uc002nee.2_Intron	p.L122L	NM_145046	NP_659483	Q96L12	CALR3_HUMAN			3	429	-			122			N-domain.		D9N574|Q96LN3	Silent	SNP	ENST00000269881.3	37	c.366G>A	CCDS12344.1																																																																																				0.423	CALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461089.1		NM_145046		26	55	0	0	0	0.007291	0	26	55		
BABAM1	29086	broad.mit.edu	37	19	17382464	17382464	+	Splice_Site	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:17382464G>C	ENST00000359435.4	+	3	537	c.344G>C	c.(343-345)gGc>gCc	p.G115A	BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000601043.1_Splice_Site_p.G115A|BABAM1_ENST00000447614.2_Splice_Site_p.G115A|BABAM1_ENST00000595632.1_Splice_Site_p.G115A|BABAM1_ENST00000598188.1_Splice_Site_p.G115A|CTD-2278I10.6_ENST00000596542.1_Intron	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	115	VWFA-like.				chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G115V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TCGTTCAACGGGTAAGAGGGA	0.532																																						uc002nfu.2		NaN																	1	Substitution - Missense(1)	p.G115V(1)	ovary(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(343-345)GGC>GCC		mediator of Rap80 interactions and targeting 40							82.0	81.0	81.0					19																	17382464		2054	4186	6240	SO:0001630	splice_region_variant	29086				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding	g.chr19:17382464G>C	AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"""Mediator of Rap80 Interactions and Targeting 40 kD"", ""new component of the BRCA1 A complex"""	612766	"""chromosome 19 open reading frame 62"""	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.344+1G>C	19.37:g.17382464G>C						C19orf62_uc010xpl.1_Missense_Mutation_p.G115A|C19orf62_uc002nfv.2_Missense_Mutation_p.G115A|C19orf62_uc010ean.2_Intron|C19orf62_uc002nfw.2_Missense_Mutation_p.G115A	p.G115A	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN			3	462	+			115			VWFA-like.		A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Missense_Mutation	SNP	ENST00000359435.4	37	c.344G>C	CCDS46012.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591863	0.66219	.	.	ENSG00000105393	ENST00000359435;ENST00000447614;ENST00000448635	.	.	.	3.97	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	L	0.55834	1.745	0.80722	D	1	D;P	0.89917	1.0;0.949	D;P	0.83275	0.996;0.731	T	0.69870	-0.5028	9	0.42905	T	0.14	-28.5384	13.6129	0.62091	0.0:0.0:1.0:0.0	.	115;115	Q9NWV8-3;Q9NWV8	.;BABA1_HUMAN	A	115	.	ENSP00000352408:G115A	G	+	2	0	BABAM1	17243464	1.000000	0.71417	0.852000	0.33557	0.577000	0.36160	8.545000	0.90657	2.065000	0.61736	0.561000	0.74099	GGC		0.532	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463471.1		NM_014173	Missense_Mutation	3	18	0	0	0	0.009096	0	3	18		
NCAN	1463	broad.mit.edu	37	19	19339266	19339266	+	Nonsense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:19339266C>G	ENST00000252575.6	+	8	2936	c.2837C>G	c.(2836-2838)tCa>tGa	p.S946*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.S397*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	946					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TCAGTTTCCTCAGGGGAGCCT	0.647																																						uc002nlz.2		NaN																	0				ovary(4)	4						c.(2836-2838)TCA>TGA		chondroitin sulfate proteoglycan 3 precursor							100.0	103.0	102.0					19																	19339266		2203	4300	6503	SO:0001587	stop_gained	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339266C>G	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2837C>G	19.37:g.19339266C>G	ENSP00000252575:p.Ser946*					NCAN_uc010ecc.1_Nonsense_Mutation_p.S510*	p.S946*	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2936	+			946					Q9UPK6	Nonsense_Mutation	SNP	ENST00000252575.6	37	c.2837C>G	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482734	0.96307	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	.	.	.	3.88	3.88	0.44766	.	0.284658	0.19172	N	0.120915	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	11.63	0.51168	0.0:1.0:0.0:0.0	.	.	.	.	X	960;946;397	.	ENSP00000252575:S946X	S	+	2	0	NCAN	19200266	0.561000	0.26578	0.600000	0.28864	0.181000	0.23173	1.152000	0.31663	2.473000	0.83533	0.491000	0.48974	TCA		0.647	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		NM_004386		16	131	0	0	0	0.004007	0	16	131		
ZNF43	7594	broad.mit.edu	37	19	21992472	21992472	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:21992472C>T	ENST00000354959.4	-	4	536	c.367G>A	c.(367-369)Gag>Aag	p.E123K	ZNF43_ENST00000598381.1_Missense_Mutation_p.E117K|ZNF43_ENST00000594012.1_Missense_Mutation_p.E117K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E117K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCTTACACTCATCCACACTT	0.338																																						uc002nqj.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(367-369)GAG>AAG		zinc finger protein 43							82.0	81.0	81.0					19																	21992472		2203	4298	6501	SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992472C>T	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.367G>A	19.37:g.21992472C>T	ENSP00000347045:p.Glu123Lys					ZNF43_uc010ecv.2_Missense_Mutation_p.E117K|ZNF43_uc002nql.2_Missense_Mutation_p.E117K|ZNF43_uc002nqm.2_Missense_Mutation_p.E117K|ZNF43_uc002nqk.2_Missense_Mutation_p.E53K	p.E123K	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	497	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	123					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.367G>A	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	C	8.661	0.900647	0.17686	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.05139	3.49	1.1	1.1	0.20463	.	.	.	.	.	T	0.15435	0.0372	M	0.84773	2.715	0.09310	N	1	P	0.52463	0.953	P	0.50109	0.631	T	0.10291	-1.0636	9	0.34782	T	0.22	.	9.0224	0.36209	0.0:1.0:0.0:0.0	.	123	P17038	ZNF43_HUMAN	K	122;123	ENSP00000347045:E123K	ENSP00000347045:E123K	E	-	1	0	ZNF43	21784312	0.000000	0.05858	0.008000	0.14137	0.116000	0.19942	-0.255000	0.08769	0.538000	0.28769	0.305000	0.20034	GAG		0.338	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2		NM_003423		6	110	0	0	0	0.001168	0	6	110		
ANKRD27	84079	broad.mit.edu	37	19	33110200	33110200	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:33110200G>A	ENST00000306065.4	-	20	2131	c.1973C>T	c.(1972-1974)tCa>tTa	p.S658L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	658					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTCCTGCCTTGAGCTGGCTGA	0.642																																						uc002ntn.1		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1972-1974)TCA>TTA		ankyrin repeat domain 27 (VPS9 domain)							98.0	92.0	94.0					19																	33110200		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33110200G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1973C>T	19.37:g.33110200G>A	ENSP00000304292:p.Ser658Leu						p.S658L	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			20	2129	-	Esophageal squamous(110;0.137)		658					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1973C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	0.249	-1.007731	0.02112	.	.	ENSG00000105186	ENST00000306065	T	0.62364	0.03	5.57	3.1	0.35709	Ankyrin repeat-containing domain (2);	0.554792	0.16467	N	0.213139	T	0.50463	0.1617	L	0.40543	1.245	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.37337	-0.9710	10	0.29301	T	0.29	-15.7199	11.1108	0.48232	0.1744:0.0:0.8256:0.0	.	658	Q96NW4	ANR27_HUMAN	L	658	ENSP00000304292:S658L	ENSP00000304292:S658L	S	-	2	0	ANKRD27	37802040	0.051000	0.20477	0.705000	0.30386	0.014000	0.08584	1.150000	0.31639	1.347000	0.45714	0.655000	0.94253	TCA		0.642	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		NM_032139		7	102	0	0	0	0.006214	0	7	102		
KIAA0355	9710	broad.mit.edu	37	19	34818975	34818975	+	Silent	SNP	C	C	G	rs368757537		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:34818975C>G	ENST00000299505.6	+	6	1896	c.1023C>G	c.(1021-1023)acC>acG	p.T341T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	341										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGCTCCCCACCGTCCCTGTGC	0.607																																						uc002nvd.3		NaN																	0				ovary(1)	1						c.(1021-1023)ACC>ACG		hypothetical protein LOC9710							71.0	73.0	73.0					19																	34818975		2203	4300	6503	SO:0001819	synonymous_variant	9710							g.chr19:34818975C>G		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1023C>G	19.37:g.34818975C>G							p.T341T	NM_014686	NP_055501	O15063	K0355_HUMAN			6	1882	+	Esophageal squamous(110;0.162)		341					Q2M3W4	Silent	SNP	ENST00000299505.6	37	c.1023C>G	CCDS12436.1																																																																																				0.607	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686		18	91	0	0	0	0.006122	0	18	91		
ZNF146	7705	broad.mit.edu	37	19	36727883	36727883	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:36727883G>C	ENST00000443387.2	+	4	1533	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.E181Q	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	181					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TCACACTGGAGAGAAACCCTA	0.393																																						uc002odq.3		NaN																	0					0						c.(541-543)GAG>CAG		zinc finger protein 146							139.0	115.0	123.0					19																	36727883		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727883G>C	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.541G>C	19.37:g.36727883G>C	ENSP00000392095:p.Glu181Gln					ZNF146_uc010eet.2_Missense_Mutation_p.E181Q|ZNF146_uc010eeu.2_Missense_Mutation_p.E181Q	p.E181Q	NM_007145	NP_009076	Q15072	OZF_HUMAN			4	2064	+	Esophageal squamous(110;0.162)		181					Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.541G>C	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341709	0.61073	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.25912	1.77;1.77	3.94	3.94	0.45596	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40640	N	0.001045	T	0.44808	0.1311	L	0.49126	1.545	0.32714	N	0.511229	D	0.63046	0.992	D	0.72338	0.977	T	0.56117	-0.8032	10	0.72032	D	0.01	-18.4781	15.9813	0.80111	0.0:0.0:1.0:0.0	.	181	Q15072	OZF_HUMAN	Q	181	ENSP00000392095:E181Q;ENSP00000400391:E181Q	ENSP00000392095:E181Q	E	+	1	0	ZNF146	41419723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.974000	0.63771	2.502000	0.84385	0.556000	0.70494	GAG		0.393	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1		NM_007145		57	59	0	0	0	0.01441	0	57	59		
ZNF607	84775	broad.mit.edu	37	19	38189439	38189439	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:38189439T>G	ENST00000355202.4	-	5	2188	c.1593A>C	c.(1591-1593)aaA>aaC	p.K531N	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K530N	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	531			K -> R (in dbSNP:rs958305). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTCAAAGGGTTTCTTACCAC	0.403																																						uc002ohc.1		NaN																	0					0						c.(1591-1593)AGA>AGC		zinc finger protein 607							76.0	72.0	74.0					19																	38189439		2203	4300	6503	SO:0001583	missense	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189439T>G	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1593A>C	19.37:g.38189439T>G	ENSP00000347338:p.Lys531Asn					ZNF607_uc002ohb.1_Missense_Mutation_p.K530N	p.R531S	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	2189	-			531					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	ENST00000355202.4	37	c.1593A>C	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.423731	0.62733	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.26067	1.76;1.76	2.26	-0.0861	0.13683	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39627	0.1085	L	0.56280	1.765	0.25595	N	0.986656	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.20042	-1.0287	9	0.87932	D	0	.	6.1845	0.20490	0.0:0.2558:0.0:0.7442	.	531;530	Q96SK3;F5H141	ZN607_HUMAN;.	N	531;530	ENSP00000347338:K531N;ENSP00000438015:K530N	ENSP00000347338:K531N	K	-	3	2	ZNF607	42881279	0.077000	0.21312	0.477000	0.27303	0.578000	0.36192	-0.278000	0.08490	-0.252000	0.09528	-0.441000	0.05720	AAA		0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2		NM_032689		62	80	0	0	0	0.01441	0	62	80		
SAMD4B	55095	broad.mit.edu	37	19	39866329	39866329	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39866329C>G	ENST00000314471.6	+	7	1742	c.707C>G	c.(706-708)tCc>tGc	p.S236C	SAMD4B_ENST00000596368.1_Missense_Mutation_p.S236C|SAMD4B_ENST00000598913.1_Missense_Mutation_p.S236C	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGAAGCGCTCCATGTCACTC	0.602																																						uc002olb.2		NaN																	0					0						c.(706-708)TCC>TGC		sterile alpha motif domain containing 4B							119.0	126.0	124.0					19																	39866329		2203	4298	6501	SO:0001583	missense	55095						protein binding	g.chr19:39866329C>G		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.707C>G	19.37:g.39866329C>G	ENSP00000317224:p.Ser236Cys					SAMD4B_uc002ola.2_Missense_Mutation_p.S236C	p.S236C	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		7	1742	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		236					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.707C>G	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877212	0.91664	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	L	0.36672	1.1	0.53005	D	0.999966	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.63677	-0.6583	9	0.33940	T	0.23	.	16.9916	0.86355	0.0:1.0:0.0:0.0	.	236;236	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	C	236	.	ENSP00000317224:S236C	S	+	2	0	SAMD4B	44558169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.588000	0.82629	2.608000	0.88229	0.462000	0.41574	TCC		0.602	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		23	244	0	0	0	0.012319	0	23	244		
SAMD4B	55095	broad.mit.edu	37	19	39868426	39868426	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39868426G>A	ENST00000314471.6	+	10	2441	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.G469E	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTCGCCGACGGAGACATCCCC	0.622																																						uc002olb.2		NaN																	0					0						c.(1405-1407)GGA>GAA		sterile alpha motif domain containing 4B							37.0	37.0	37.0					19																	39868426		2201	4299	6500	SO:0001583	missense	55095						protein binding	g.chr19:39868426G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1406G>A	19.37:g.39868426G>A	ENSP00000317224:p.Gly469Glu					SAMD4B_uc002ola.2_Missense_Mutation_p.G469E	p.G469E	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	2441	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		469					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1406G>A	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214815	0.58452	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	4.72	0.59763	Smaug, pseudo-HEAT analogous topology (1);	0.064912	0.64402	D	0.000012	T	0.42291	0.1196	N	0.16478	0.41	0.44852	D	0.997861	B;B	0.21225	0.053;0.053	B;B	0.19666	0.026;0.026	T	0.27571	-1.0070	9	0.31617	T	0.26	.	15.2254	0.73348	0.0:0.0:1.0:0.0	.	469;469	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	E	469	.	ENSP00000317224:G469E	G	+	2	0	SAMD4B	44560266	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.360000	0.73064	2.449000	0.82847	0.467000	0.42956	GGA		0.622	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1		NM_018028		4	52	0	0	0	0.009096	0	4	52		
TIMM50	92609	broad.mit.edu	37	19	39976916	39976916	+	Silent	SNP	G	G	A	rs62120692		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:39976916G>A	ENST00000607714.1	+	7	604	c.582G>A	c.(580-582)acG>acA	p.T194T	TIMM50_ENST00000314349.4_Silent_p.T297T|TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_Silent_p.T81T			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	194	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCATCTTTACGTCAGAGACTG	0.552																																						uc002olu.1		NaN																	0				ovary(1)	1						c.(889-891)ACG>ACA		translocase of inner mitochondrial membrane 50							151.0	155.0	153.0					19																	39976916		2203	4300	6503	SO:0001819	synonymous_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39976916G>A	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.582G>A	19.37:g.39976916G>A						TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	p.T297T	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		7	1024	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		194			Mitochondrial intermembrane (Potential).|FCP1 homology.		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Silent	SNP	ENST00000607714.1	37	c.891G>A																																																																																					0.552	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1		NM_001001563		31	225	0	0	0	0.009535	0	31	225		
CEACAM7	1087	broad.mit.edu	37	19	42192066	42192066	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:42192066C>G	ENST00000006724.3	-	1	230	c.29G>C	c.(28-30)aGa>aCa	p.R10T	CEACAM7_ENST00000401731.1_Missense_Mutation_p.R10T|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000602225.1_Missense_Mutation_p.R10T|CEACAM7_ENST00000338196.4_Missense_Mutation_p.R10T	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	10						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		AATGCACACTCTGTATGGACA	0.617																																						uc002ori.1		NaN																	0				ovary(2)	2						c.(28-30)AGA>ACA		carcinoembryonic antigen-related cell adhesion							81.0	69.0	73.0					19																	42192066		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42192066C>G	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.29G>C	19.37:g.42192066C>G	ENSP00000006724:p.Arg10Thr					CEACAM7_uc010ehx.2_Missense_Mutation_p.R10T|CEACAM7_uc010ehy.1_Missense_Mutation_p.R10T	p.R10T	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	1	31	-			10					A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.29G>C	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	-	5.487	0.274953	0.10403	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.14144	2.53;2.53;5.24	1.67	-1.07	0.09968	.	.	.	.	.	T	0.23886	0.0578	M	0.67397	2.05	0.09310	N	1	D;D	0.76494	0.999;0.984	D;P	0.75484	0.986;0.811	T	0.27297	-1.0078	9	0.14252	T	0.57	.	3.1596	0.06516	0.0:0.5281:0.279:0.1929	.	10;10	Q14002-2;Q14002	.;CEAM7_HUMAN	T	10	ENSP00000006724:R10T;ENSP00000385932:R10T;ENSP00000343286:R10T	ENSP00000006724:R10T	R	-	2	0	CEACAM7	46883906	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.026000	0.13599	-0.177000	0.10690	0.305000	0.20034	AGA		0.617	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1		NM_006890		14	44	0	0	0	0.00245	0	14	44		
ZNF223	7766	broad.mit.edu	37	19	44571048	44571048	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:44571048C>T	ENST00000434772.3	+	5	1322	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	ZNF223_ENST00000591793.1_Missense_Mutation_p.S466F	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TTCAGACGGTCCTCCTATCTT	0.438																																						uc002oyf.1		NaN																	0				ovary(1)	1						c.(1066-1068)TCC>TTC		zinc finger protein 223							96.0	98.0	97.0					19																	44571048		2203	4300	6503	SO:0001583	missense	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44571048C>T	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1067C>T	19.37:g.44571048C>T	ENSP00000401947:p.Ser356Phe					ZNF284_uc010ejd.2_RNA	p.S356F	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN			5	1320	+		Prostate(69;0.0352)	356			C2H2-type 7.		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.1067C>T	CCDS12635.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302586	0.60195	.	.	ENSG00000178386	ENST00000434772	T	0.16196	2.36	2.46	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22820	0.0551	L	0.60904	1.88	0.09310	N	1	D	0.61697	0.99	P	0.55871	0.786	T	0.13098	-1.0522	9	0.25751	T	0.34	.	2.3872	0.04369	0.2391:0.4714:0.0:0.2896	.	356	Q9UK11	ZN223_HUMAN	F	356	ENSP00000401947:S356F	ENSP00000401947:S356F	S	+	2	0	ZNF223	49262888	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-1.838000	0.01687	0.345000	0.23873	0.313000	0.20887	TCC		0.438	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2				7	139	0	0	0	0.001984	0	7	139		
CCDC9	26093	broad.mit.edu	37	19	47773894	47773894	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:47773894G>C	ENST00000221922.6	+	10	1256	c.1034G>C	c.(1033-1035)aGa>aCa	p.R345T		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	345	Poly-Arg.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCAGCCGCAGAAGGAGAAAG	0.672																																						uc010xym.1		NaN																	0					0						c.(1033-1035)AGA>ACA		coiled-coil domain containing 9							24.0	31.0	29.0					19																	47773894		2201	4296	6497	SO:0001583	missense	26093							g.chr19:47773894G>C	AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1034G>C	19.37:g.47773894G>C	ENSP00000221922:p.Arg345Thr						p.R345T	NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)	10	1241	+		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)	345			Poly-Arg.			Missense_Mutation	SNP	ENST00000221922.6	37	c.1034G>C	CCDS12698.1	.	.	.	.	.	.	.	.	.	.	.	11.90	1.775389	0.31411	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.45668	0.89	4.51	3.47	0.39725	.	1.166310	0.06209	N	0.684697	T	0.48822	0.1521	M	0.65975	2.015	0.30092	N	0.808238	P	0.36535	0.557	B	0.41860	0.368	T	0.44314	-0.9336	10	0.34782	T	0.22	-23.0778	9.9477	0.41621	0.0978:0.0:0.9022:0.0	.	345	Q9Y3X0	CCDC9_HUMAN	T	345;327	ENSP00000221922:R345T	ENSP00000221922:R345T	R	+	2	0	CCDC9	52465734	0.982000	0.34865	0.925000	0.36789	0.177000	0.22998	4.652000	0.61454	1.101000	0.41535	0.305000	0.20034	AGA		0.672	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1		NM_015603		5	49	0	0	0	0.000602	0	5	49		
PNKP	11284	broad.mit.edu	37	19	50370408	50370408	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:50370408T>C	ENST00000322344.3	-	2	163	c.54A>G	c.(52-54)ggA>ggG	p.G18G	PNKP_ENST00000600910.1_Silent_p.G18G|PNKP_ENST00000596014.1_Silent_p.G18G|PNKP_ENST00000600573.1_Silent_p.G18G|PNKP_ENST00000595792.1_5'UTR	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	18	FHA.			G -> E (in Ref. 1; AAD51135). {ECO:0000305}.	dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		TGGGGGGCGCTCCCCCAGGGG	0.711								Other BER factors																														uc002pqh.2		NaN																	0				ovary(1)|kidney(1)	2						c.(52-54)GGA>GGG	Other_BER_factors	polynucleotide kinase 3' phosphatase							13.0	16.0	15.0					19																	50370408		2177	4247	6424	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370408T>C	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.54A>G	19.37:g.50370408T>C						PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.G18G|PNKP_uc010enm.2_Silent_p.G18G|PNKP_uc002pqk.2_Silent_p.G18G	p.G18G	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	1	106	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	18	G -> E (in Ref. 1; AAD51135).				Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.54A>G	CCDS12783.1																																																																																				0.711	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1		NM_007254		10	22	0	0	0	0.010729	0	10	22		
MYBPC2	4606	broad.mit.edu	37	19	50947074	50947074	+	Splice_Site	SNP	G	G	A	rs534923875		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:50947074G>A	ENST00000357701.5	+	11	1184		c.e11+1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGTGATGTGGTAAGTGACCC	0.512																																						uc002psf.2		NaN																	0				breast(1)	1						c.e11+1		myosin binding protein C, fast type							170.0	177.0	175.0					19																	50947074		2094	4210	6304	SO:0001630	splice_region_variant	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50947074G>A		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1133+1G>A	19.37:g.50947074G>A							p.W378_splice	NM_004533	NP_004524	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	11	1184	+		all_neural(266;0.057)						A1L4G9	Splice_Site	SNP	ENST00000357701.5	37	c.1133_splice	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.063705	0.55432	.	.	ENSG00000086967	ENST00000357701	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6049	0.76658	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYBPC2	55638886	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	9.114000	0.94329	2.134000	0.65973	0.196000	0.17591	.		0.512	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1		NM_004533	Intron	50	61	0	0	0	0.01441	0	50	61		
CD33	945	broad.mit.edu	37	19	51728804	51728804	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:51728804G>T	ENST00000262262.4	+	2	389	c.368G>T	c.(367-369)gGa>gTa	p.G123V	CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.G123V	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	123	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	ATGGAGAGAGGAAGTACCAAA	0.527																																						uc002pwa.2		NaN																	0					0						c.(367-369)GGA>GTA		CD33 antigen isoform 1 precursor	Gemtuzumab ozogamicin(DB00056)						49.0	51.0	51.0					19																	51728804		2203	4299	6502	SO:0001583	missense	945				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	g.chr19:51728804G>T	M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.368G>T	19.37:g.51728804G>T	ENSP00000262262:p.Gly123Val					CD33_uc010eos.1_Missense_Mutation_p.G123V|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	p.G123V	NM_001772	NP_001763	P20138	CD33_HUMAN		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	2	408	+		all_neural(266;0.0199)	123			Extracellular (Potential).|Ig-like V-type.		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	c.368G>T	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	13.45	2.242099	0.39598	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.66280	-0.2;1.85	3.34	2.3	0.28687	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.917821	0.08819	U	0.888985	T	0.80308	0.4599	M	0.89601	3.045	0.09310	N	0.999999	D;D	0.76494	0.997;0.999	D;D	0.74674	0.934;0.984	T	0.62001	-0.6946	10	0.87932	D	0	.	6.464	0.21971	0.1396:0.0:0.8604:0.0	.	123;123	F8WAL2;P20138	.;CD33_HUMAN	V	123	ENSP00000262262:G123V;ENSP00000375673:G123V	ENSP00000262262:G123V	G	+	2	0	CD33	56420616	0.019000	0.18553	0.001000	0.08648	0.002000	0.02628	2.047000	0.41269	0.745000	0.32763	0.655000	0.94253	GGA		0.527	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2		NM_001772		13	52	1	0	2.27111e-07	0.013537	2.55102e-07	13	52		
ZSCAN5B	342933	broad.mit.edu	37	19	56701308	56701308	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:56701308C>T	ENST00000586855.2	-	5	1689	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R459H			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	459					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGAGTGGGTGCGCTGGTGAAC	0.537																																						uc010ygh.1		NaN																	0				ovary(1)|skin(1)	2						c.(1375-1377)CGC>CAC		zinc finger and SCAN domain containing 5B							84.0	87.0	86.0					19																	56701308		2098	4248	6346	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701308C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1376G>A	19.37:g.56701308C>T	ENSP00000466072:p.Arg459His						p.R459H	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1376	-			459			C2H2-type 4.			Missense_Mutation	SNP	ENST00000586855.2	37	c.1376G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203138	0.58234	.	.	ENSG00000197213	ENST00000358992	T	0.25749	1.78	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49490	0.1560	M	0.77406	2.37	0.09310	N	1	D	0.76494	0.999	D	0.64506	0.926	T	0.35992	-0.9766	9	0.87932	D	0	.	13.0862	0.59142	0.0:1.0:0.0:0.0	.	459	A6NJL1	ZSA5B_HUMAN	H	459	ENSP00000351883:R459H	ENSP00000351883:R459H	R	-	2	0	ZSCAN5B	61393120	0.005000	0.15991	0.038000	0.18304	0.004000	0.04260	2.147000	0.42226	1.991000	0.58162	0.461000	0.40582	CGC		0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2		NM_001080456		25	24	0	0	0	0.00278	0	25	24		
PEG3	5178	broad.mit.edu	37	19	57335683	57335683	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr19:57335683C>G	ENST00000326441.9	-	4	704	c.341G>C	c.(340-342)tGt>tCt	p.C114S	ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000593711.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000423103.2_Missense_Mutation_p.C114S|ZIM2_ENST00000601070.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000594706.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	114	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGCTTCTCACAGTTCTCCGG	0.532																																						uc002qnu.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(340-342)TGT>TCT		paternally expressed 3 isoform 1							107.0	98.0	101.0					19																	57335683		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335683C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.341G>C	19.37:g.57335683C>G	ENSP00000326581:p.Cys114Ser					ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.C114S|PEG3_uc002qnv.2_Missense_Mutation_p.C114S|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.C114S	p.C114S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	1	692	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	114			SCAN box.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.341G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624513	0.66901	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.03831	3.79;3.79	4.82	4.82	0.62117	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.44688	D	0.000434	T	0.08358	0.0208	N	0.11427	0.14	.	.	.	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.52660	-0.8546	9	0.23302	T	0.38	-27.9286	14.1304	0.65250	0.0:1.0:0.0:0.0	.	114;47	Q9GZU2;Q96Q96	PEG3_HUMAN;.	S	114	ENSP00000326581:C114S;ENSP00000403051:C114S	ENSP00000292074:C114S	C	-	2	0	ZIM2	62027495	0.130000	0.22417	0.928000	0.36995	0.779000	0.44077	1.070000	0.30653	2.620000	0.88729	0.650000	0.86243	TGT		0.532	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2				7	94	0	0	0	0.001984	0	7	94		
ASAP2	8853	broad.mit.edu	37	2	9475228	9475228	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:9475228C>G	ENST00000281419.3	+	9	1109	c.769C>G	c.(769-771)Cag>Gag	p.Q257E	ASAP2_ENST00000315273.4_Missense_Mutation_p.Q257E	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	257					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGATCAAACAGGCCCAGGA	0.413																																						uc002qzh.2		NaN																	0					0						c.(769-771)CAG>GAG		ArfGAP with SH3 domain, ankyrin repeat and PH							73.0	75.0	74.0					2																	9475228		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9475228C>G	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.769C>G	2.37:g.9475228C>G	ENSP00000281419:p.Gln257Glu					ASAP2_uc002qzi.2_Missense_Mutation_p.Q257E	p.Q257E	NM_003887	NP_003878	O43150	ASAP2_HUMAN			9	1109	+			257			Potential.		D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.769C>G	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626484	0.87560	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.03831	3.79;3.79	5.35	5.35	0.76521	.	0.367427	0.32328	N	0.006256	T	0.18257	0.0438	M	0.64404	1.975	0.53005	D	0.999963	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.03773	-1.1005	10	0.17369	T	0.5	.	19.3055	0.94161	0.0:1.0:0.0:0.0	.	257;257	O43150-2;O43150	.;ASAP2_HUMAN	E	257	ENSP00000281419:Q257E;ENSP00000316404:Q257E	ENSP00000281419:Q257E	Q	+	1	0	ASAP2	9392679	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.105000	0.77031	2.784000	0.95788	0.638000	0.83543	CAG		0.413	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1		NM_003887		9	40	0	0	0	0.008291	0	9	40		
OTOF	9381	broad.mit.edu	37	2	26702466	26702466	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:26702466C>T	ENST00000272371.2	-	17	2094	c.1968G>A	c.(1966-1968)cgG>cgA	p.R656R	OTOF_ENST00000403946.3_Silent_p.R656R|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000339598.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	656					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGGCTCCTTCCGGGGCCGAG	0.627																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1966-1968)CGG>CGA		otoferlin isoform a							30.0	34.0	33.0					2																	26702466		2200	4298	6498	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26702466C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1968G>A	2.37:g.26702466C>T						OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank	p.R656R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			17	2095	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		656			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1968G>A	CCDS1725.1																																																																																				0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				8	21	0	0	0	0.006214	0	8	21		
ABHD1	84696	broad.mit.edu	37	2	27351315	27351315	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:27351315C>A	ENST00000316470.4	+	2	235	c.121C>A	c.(121-123)Cgg>Agg	p.R41R		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	41						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGAGGCCTCGGCTGGTGGC	0.602																																						uc002rit.2		NaN																	0					0						c.(121-123)CGG>AGG		abhydrolase domain-containing protein 1							85.0	91.0	89.0					2																	27351315		2203	4300	6503	SO:0001819	synonymous_variant	84696					integral to membrane	carboxylesterase activity	g.chr2:27351315C>A	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.121C>A	2.37:g.27351315C>A						ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_Intron	p.R41R	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN			2	281	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		41					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	c.121C>A	CCDS1736.1																																																																																				0.602	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1		NM_032604		14	50	1	0	3.27435e-08	0.00245	3.71959e-08	14	50		
XDH	7498	broad.mit.edu	37	2	31560610	31560610	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:31560610C>G	ENST00000379416.3	-	35	3896	c.3848G>C	c.(3847-3849)cGa>cCa	p.R1283P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1283					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTGCTGAGCTCGAGCTGCACG	0.577																																					Colon(66;682 1445 30109 40147)	uc002rnv.1		NaN																	0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(3847-3849)CGA>CCA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						91.0	79.0	83.0					2																	31560610		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31560610C>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3848G>C	2.37:g.31560610C>G	ENSP00000368727:p.Arg1283Pro						p.R1283P	NM_000379	NP_000370	P47989	XDH_HUMAN			35	3927	-	Acute lymphoblastic leukemia(172;0.155)		1283					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3848G>C	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577732	0.86645	.	.	ENSG00000158125	ENST00000379416	T	0.78481	-1.18	5.89	5.89	0.94794	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.107922	0.64402	D	0.000017	D	0.92522	0.7625	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94084	0.7347	10	0.87932	D	0	.	19.8722	0.96854	0.0:1.0:0.0:0.0	.	1283	P47989	XDH_HUMAN	P	1283	ENSP00000368727:R1283P	ENSP00000368727:R1283P	R	-	2	0	XDH	31414114	1.000000	0.71417	0.879000	0.34478	0.544000	0.35116	7.751000	0.85126	2.793000	0.96121	0.655000	0.94253	CGA		0.577	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1		NM_000379		16	36	0	0	0	0.003163	0	16	36		
BIRC6	57448	broad.mit.edu	37	2	32740790	32740790	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:32740790C>G	ENST00000421745.2	+	55	11436	c.11302C>G	c.(11302-11304)Cta>Gta	p.L3768V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3768					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGCGTTCTTTCTACAGTGCAT	0.393																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11302-11304)CTA>GTA		baculoviral IAP repeat-containing 6							40.0	38.0	39.0					2																	32740790		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32740790C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11302C>G	2.37:g.32740790C>G	ENSP00000393596:p.Leu3768Val						p.L3768V	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			55	11436	+	Acute lymphoblastic leukemia(172;0.155)		3768					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11302C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414292	0.42817	.	.	ENSG00000115760	ENST00000421745	T	0.74315	-0.83	5.5	3.46	0.39613	.	0.171095	0.38897	N	0.001534	T	0.64627	0.2615	M	0.63428	1.95	0.48511	D	0.999666	P	0.42692	0.787	B	0.36186	0.219	T	0.64045	-0.6499	10	0.41790	T	0.15	.	6.4085	0.21678	0.0:0.5942:0.0:0.4058	.	3768	Q9NR09	BIRC6_HUMAN	V	3768	ENSP00000393596:L3768V	ENSP00000393596:L3768V	L	+	1	2	BIRC6	32594294	0.997000	0.39634	0.996000	0.52242	0.873000	0.50193	1.099000	0.31013	1.337000	0.45525	-0.225000	0.12378	CTA		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		16	35	0	0	0	0.003163	0	16	35		
ABCG5	64240	broad.mit.edu	37	2	44051155	44051155	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:44051155G>C	ENST00000260645.1	-	9	1360	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V	ABCG5_ENST00000543989.1_Silent_p.V12V|ABCG5_ENST00000405322.1_Silent_p.V236V	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	407	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CATTGCTTCGGACCCGCAGAA	0.512																																						uc002rtn.2		NaN																	0				ovary(1)|skin(1)	2						c.(1219-1221)GTC>GTG		ATP-binding cassette sub-family G member 5							95.0	85.0	89.0					2																	44051155		2203	4300	6503	SO:0001819	synonymous_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44051155G>C	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1221C>G	2.37:g.44051155G>C						ABCG5_uc002rtm.2_Silent_p.V12V|ABCG5_uc002rto.2_Silent_p.V236V|ABCG5_uc002rtp.2_Silent_p.V12V	p.V407V	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN			9	1361	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	407			Extracellular (Potential).|ABC transmembrane type-2.		Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	ENST00000260645.1	37	c.1221C>G	CCDS1814.1																																																																																				0.512	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1		NM_022436		17	51	0	0	0	0.00499	0	17	51		
CCDC85A	114800	broad.mit.edu	37	2	56603022	56603022	+	Silent	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:56603022A>G	ENST00000407595.2	+	5	2026	c.1524A>G	c.(1522-1524)ggA>ggG	p.G508G	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	508										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTCAGTGGACATGCCACAC	0.458																																						uc002rzn.2		NaN																	0				breast(3)|ovary(2)	5						c.(1522-1524)GGA>GGG		coiled-coil domain containing 85A							97.0	97.0	97.0					2																	56603022		2023	4180	6203	SO:0001819	synonymous_variant	114800							g.chr2:56603022A>G	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1524A>G	2.37:g.56603022A>G							p.G508G	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	2026	+			508						Silent	SNP	ENST00000407595.2	37	c.1524A>G	CCDS46290.1																																																																																				0.458	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1				6	27	0	0	0	0.001168	0	6	27		
CD207	50489	broad.mit.edu	37	2	71058238	71058238	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:71058238T>C	ENST00000410009.3	-	6	975	c.930A>G	c.(928-930)ccA>ccG	p.P310P		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	310	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TTTTGTCACATGGGGCATCAT	0.493																																						uc002shg.2		NaN																	0				ovary(1)|lung(1)	2						c.(928-930)CCA>CCG		CD207 antigen, langerin							131.0	123.0	126.0					2																	71058238		1954	4138	6092	SO:0001819	synonymous_variant	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71058238T>C	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.930A>G	2.37:g.71058238T>C							p.P310P	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			6	977	-			310			C-type lectin.|Extracellular (Potential).			Silent	SNP	ENST00000410009.3	37	c.930A>G																																																																																					0.493	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4		NM_015717		6	38	0	0	0	0.001984	0	6	38		
NPHP1	4867	broad.mit.edu	37	2	110881615	110881615	+	Missense_Mutation	SNP	G	G	C	rs201460699		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:110881615G>C	ENST00000393272.3	-	20	2049	c.1952C>G	c.(1951-1953)aCg>aGg	p.T651R	NPHP1_ENST00000355301.4_Missense_Mutation_p.T533R|NPHP1_ENST00000316534.4_Missense_Mutation_p.T652R|NPHP1_ENST00000417665.1_Missense_Mutation_p.T630R|NPHP1_ENST00000445609.2_Missense_Mutation_p.T596R|AC013268.1_ENST00000390802.1_RNA	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	651					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CAGGAGAAACGTGGACTTCAG	0.458																																						uc002tfn.3		NaN																	0				ovary(2)	2						c.(1951-1953)ACG>AGG		nephrocystin 1 isoform 2							97.0	104.0	102.0					2																	110881615		2203	4300	6503	SO:0001583	missense	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110881615G>C	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1952C>G	2.37:g.110881615G>C	ENSP00000376953:p.Thr651Arg					NPHP1_uc002tfm.3_Missense_Mutation_p.T596R|NPHP1_uc002tfl.3_Missense_Mutation_p.T652R|NPHP1_uc002tfo.3_Missense_Mutation_p.T533R|NPHP1_uc010ywx.1_Missense_Mutation_p.T595R	p.T651R	NM_207181	NP_997064	O15259	NPHP1_HUMAN			20	2046	-			651					O14837	Missense_Mutation	SNP	ENST00000393272.3	37	c.1952C>G	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	9.254	1.041444	0.19669	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.61510	0.13;0.13;0.13;0.13;0.1	5.62	-6.94	0.01633	.	1.415810	0.04244	N	0.337474	T	0.37919	0.1021	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P	0.45126	0.509;0.754;0.659;0.642;0.851	B;B;B;B;B	0.40375	0.092;0.248;0.175;0.189;0.327	T	0.47923	-0.9079	10	0.52906	T	0.07	1.6298	5.5275	0.16967	0.5242:0.0854:0.3013:0.089	.	595;533;651;596;652	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	R	652;596;651;533;630	ENSP00000313169:T652R;ENSP00000389879:T596R;ENSP00000376953:T651R;ENSP00000347452:T533R;ENSP00000402176:T630R	ENSP00000313169:T652R	T	-	2	0	NPHP1	110238904	0.000000	0.05858	0.000000	0.03702	0.870000	0.49936	-1.229000	0.02945	-1.401000	0.02058	0.561000	0.74099	ACG		0.458	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3		NM_000272		7	85	0	0	0	0.001984	0	7	85		
FBLN7	129804	broad.mit.edu	37	2	112944892	112944892	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:112944892G>T	ENST00000331203.2	+	8	1400	c.1129G>T	c.(1129-1131)Ggt>Tgt	p.G377C	FBLN7_ENST00000409450.3_Missense_Mutation_p.G331C|FBLN7_ENST00000409667.3_Missense_Mutation_p.G243C|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	377					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGGGATCGTGGGTGGGAACAG	0.642																																						uc002tho.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1129-1131)GGT>TGT		fibulin 7 isoform 1							74.0	81.0	79.0					2																	112944892		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944892G>T		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1129G>T	2.37:g.112944892G>T	ENSP00000331411:p.Gly377Cys					FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Missense_Mutation_p.G331C|FBLN7_uc010fkj.1_Missense_Mutation_p.G243C	p.G377C	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN			8	1400	+			377					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.1129G>T	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.974542	0.92919	.	.	ENSG00000144152	ENST00000331203;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	D;T;T;D;T	0.83163	-1.52;1.39;-1.46;-1.69;-0.5	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90645	0.7066	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91197	0.4988	10	0.72032	D	0.01	-16.9376	19.2064	0.93732	0.0:0.0:1.0:0.0	.	243;331;377	Q53RD9-4;Q53RD9-2;Q53RD9	.;.;FBLN7_HUMAN	C	377;243;331;271;199	ENSP00000331411:G377C;ENSP00000386822:G243C;ENSP00000387000:G331C;ENSP00000388025:G271C;ENSP00000272559:G199C	ENSP00000272559:G199C	G	+	1	0	FBLN7	112661363	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.312000	0.96287	2.542000	0.85734	0.555000	0.69702	GGT		0.642	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1		NM_153214		10	115	1	0	3.86212e-05	0.008291	4.1632e-05	10	115		
RAB3GAP1	22930	broad.mit.edu	37	2	135884205	135884205	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:135884205G>A	ENST00000264158.8	+	11	995	c.952G>A	c.(952-954)Gag>Aag	p.E318K	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.E274K|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.E318K	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	318					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGAAAAGCTGAGAATCCTCA	0.368																																						uc002tuj.2		NaN																	0				ovary(1)|skin(1)	2						c.(952-954)GAG>AAG		RAB3 GTPase-activating protein							213.0	206.0	208.0					2																	135884205		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135884205G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.952G>A	2.37:g.135884205G>A	ENSP00000264158:p.Glu318Lys					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E318K|RAB3GAP1_uc010fng.2_Missense_Mutation_p.E143K|RAB3GAP1_uc010fnh.1_RNA	p.E318K	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	11	977	+			318					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.952G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844194	0.71488	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.70631	-0.5;-0.5;-0.5	5.82	4.95	0.65309	.	0.180438	0.64402	D	0.000016	T	0.53899	0.1825	N	0.19112	0.55	0.45867	D	0.998724	B;B	0.27791	0.189;0.189	B;B	0.27608	0.044;0.081	T	0.50233	-0.8852	10	0.08837	T	0.75	-10.063	15.0106	0.71547	0.0683:0.0:0.9317:0.0	.	318;318	C9J837;Q15042	.;RB3GP_HUMAN	K	318;274;318	ENSP00000264158:E318K;ENSP00000444306:E274K;ENSP00000411418:E318K	ENSP00000264158:E318K	E	+	1	0	RAB3GAP1	135600675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.488000	0.81441	1.469000	0.48083	0.655000	0.94253	GAG		0.368	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2		NM_012233		33	80	0	0	0	0.012213	0	33	80		
THSD7B	80731	broad.mit.edu	37	2	138414501	138414501	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:138414501G>T	ENST00000409968.1	+	23	4419	c.4241G>T	c.(4240-4242)aGc>aTc	p.S1414I	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S1417I|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1386I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1416	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACCAAGACAGCTGCCCCCAA	0.433																																						uc002tva.1		NaN																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(4153-4155)AGC>ATC		thrombospondin, type I, domain containing 7B							124.0	125.0	125.0					2																	138414501		1854	4095	5949	SO:0001583	missense	80731							g.chr2:138414501G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4241G>T	2.37:g.138414501G>T	ENSP00000387145:p.Ser1414Ile					THSD7B_uc010zbj.1_Intron	p.S1385I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	22	4154	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4154G>T		.	.	.	.	.	.	.	.	.	.	G	17.46	3.393947	0.62066	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.54866	0.55;0.55;0.55	6.17	1.89	0.25635	.	0.110672	0.85682	D	0.000000	T	0.60996	0.2312	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	D	0.63192	0.912	T	0.57165	-0.7858	10	0.37606	T	0.19	.	9.7435	0.40433	0.1926:0.1056:0.7018:0.0	.	1386	C9JKN6	.	I	1414;1417;1386	ENSP00000387145:S1414I;ENSP00000272643:S1417I;ENSP00000413841:S1386I	ENSP00000272643:S1417I	S	+	2	0	THSD7B	138130971	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.956000	0.49129	0.480000	0.27534	-0.137000	0.14449	AGC		0.433	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9		21	91	1	0	3.83957e-06	0.00278	4.22986e-06	21	91		
SCN1A	6323	broad.mit.edu	37	2	166896082	166896082	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:166896082C>T	ENST00000303395.4	-	14	2439	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	SCN1A_ENST00000409050.1_Missense_Mutation_p.E786K|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E803K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.E814K			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	814					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)	AGAAACATTTCTGCTGTAAAG	0.333																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(2407-2409)GAA>AAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						62.0	63.0	63.0					2																	166896082		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166896082C>T	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.2440G>A	2.37:g.166896082C>T	ENSP00000303540:p.Glu814Lys					SCN1A_uc002udo.3_Missense_Mutation_p.E683K|SCN1A_uc010fpk.2_Missense_Mutation_p.E655K	p.E803K	NM_006920	NP_008851	P35498	SCN1A_HUMAN			14	2425	-			814			Helical; Name=S2 of repeat II; (By similarity).|II.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2407G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291792	0.80914	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98822	-5.16;-5.16;-5.16;-5.16	4.66	4.66	0.58398	Ion transport (1);	0.209904	0.33477	N	0.004862	D	0.99622	0.9862	H	0.99838	4.83	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.974	D;D;P	0.77004	0.981;0.989;0.897	D	0.97101	0.9797	10	0.87932	D	0	.	17.8943	0.88881	0.0:1.0:0.0:0.0	.	803;786;814	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	K	814;814;803;786	ENSP00000407030:E814K;ENSP00000303540:E814K;ENSP00000364554:E803K;ENSP00000386312:E786K	ENSP00000303540:E814K	E	-	1	0	SCN1A	166604328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.738000	0.84966	2.307000	0.77673	0.650000	0.86243	GAA		0.333	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		5	19	0	0	0	0.001168	0	5	19		
NFE2L2	4780	broad.mit.edu	37	2	178095532	178095532	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:178095532G>C	ENST00000397062.3	-	5	2353	c.1799C>G	c.(1798-1800)cCa>cGa	p.P600R	NFE2L2_ENST00000397063.4_Missense_Mutation_p.P584R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.P584R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.P577R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	600					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTAACATCTGGCTTCTTACT	0.368			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NaN		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		0				central_nervous_system(1)	1						c.(1798-1800)CCA>CGA		nuclear factor erythroid 2-like 2 isoform 1							90.0	84.0	86.0					2																	178095532		1829	4087	5916	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095532G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1799C>G	2.37:g.178095532G>C	ENSP00000380252:p.Pro600Arg	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.P584R|NFE2L2_uc010zfa.1_Missense_Mutation_p.P577R|NFE2L2_uc002uli.3_Missense_Mutation_p.P584R	p.P600R	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2354	-			600					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1799C>G	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.313983	0.40996	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151	T;T;T	0.18174	2.23;2.23;2.24	5.93	5.93	0.95920	.	0.257854	0.46145	D	0.000315	T	0.10423	0.0255	N	0.14661	0.345	0.80722	D	1	P;P	0.39216	0.664;0.664	B;B	0.36030	0.143;0.216	T	0.28138	-1.0053	10	0.22109	T	0.4	-2.3911	13.5868	0.61935	0.0708:0.0:0.9292:0.0	.	577;600	E9PGJ7;Q16236	.;NF2L2_HUMAN	R	584;600;577	ENSP00000380253:P584R;ENSP00000380252:P600R;ENSP00000411575:P577R	ENSP00000380252:P600R	P	-	2	0	NFE2L2	177803778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.332000	0.79203	2.829000	0.97493	0.644000	0.83932	CCA		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164		10	97	0	0	0	0.006214	0	10	97		
DFNB59	494513	broad.mit.edu	37	2	179323266	179323266	+	Silent	SNP	G	G	A	rs138967124		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179323266G>A	ENST00000409117.3	+	5	935	c.579G>A	c.(577-579)aaG>aaA	p.K193K	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Silent_p.K193K	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	193					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGAATCCCAAGGGAAGGGACA	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		17990	0.0		0.001	False		,,,				2504	0.0					uc002umi.3		NaN																	0					0						c.(577-579)AAG>AAA		deafness, autosomal recessive 59							96.0	93.0	94.0					2																	179323266		1833	4095	5928	SO:0001819	synonymous_variant	494513				sensory perception of sound			g.chr2:179323266G>A	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.579G>A	2.37:g.179323266G>A						DFNB59_uc002umj.3_Silent_p.K193K	p.K193K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		5	935	+			193					A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	c.579G>A	CCDS42787.1																																																																																				0.353	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1				9	81	0	0	0	0.004482	0	9	81		
TTN	7273	broad.mit.edu	37	2	179413895	179413895	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179413895T>A	ENST00000591111.1	-	289	87759	c.87535A>T	c.(87535-87537)Aac>Tac	p.N29179Y	TTN_ENST00000460472.2_Missense_Mutation_p.N21755Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N30820Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N21947Y|TTN_ENST00000342992.6_Missense_Mutation_p.N28252Y|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N21880Y|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29179					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)			CCTGGTGGGTTGACGGGCTCT	0.463																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(84754-84756)AAC>TAC		titin isoform N2-A							83.0	83.0	83.0					2																	179413895		1956	4156	6112	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413895T>A	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.87535A>T	2.37:g.179413895T>A	ENSP00000465570:p.Asn29179Tyr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21947Y|TTN_uc010zfi.1_Missense_Mutation_p.N21880Y|TTN_uc010zfj.1_Missense_Mutation_p.N21755Y	p.N28252Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	84978	-			29179					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.84754A>T		.	.	.	.	.	.	.	.	.	.	T	14.12	2.440837	0.43326	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.3	4.14	0.48551	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14442	0.0349	N	0.00642	-1.3	0.34227	D	0.676106	B;B;B;B	0.27380	0.097;0.097;0.097;0.177	B;B;B;B	0.23852	0.026;0.026;0.049;0.049	T	0.11717	-1.0576	9	0.87932	D	0	.	7.7683	0.28993	0.0:0.073:0.1395:0.7875	.	21755;21880;21947;29179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	28252;21755;21947;21880;21752	ENSP00000343764:N28252Y;ENSP00000434586:N21755Y;ENSP00000340554:N21947Y;ENSP00000352154:N21880Y	ENSP00000340554:N21947Y	N	-	1	0	TTN	179122141	0.943000	0.32029	0.640000	0.29408	0.648000	0.38561	4.115000	0.57865	0.943000	0.37553	0.460000	0.39030	AAC		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		5	44	0	0	0	0.001168	0	5	44		
TTN	7273	broad.mit.edu	37	2	179613062	179613062	+	Intron	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179613062C>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E4689K|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			CTACTTTTCTCCACCATAGTT	0.318																																						uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14065-14067)GAG>AAG		titin isoform novex-3							74.0	82.0	80.0					2																	179613062		2201	4294	6495	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613062C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4788G>A	2.37:g.179613062C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E4689K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14289	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.14065G>A		.	.	.	.	.	.	.	.	.	.	C	13.48	2.250395	0.39797	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59502	0.26	5.29	1.42	0.22433	.	.	.	.	.	T	0.42630	0.1211	L	0.40543	1.245	0.20489	N	0.999897	B	0.06786	0.001	B	0.09377	0.004	T	0.25984	-1.0116	9	0.22706	T	0.39	.	6.0589	0.19826	0.0:0.586:0.1249:0.2891	.	4689	Q8WZ42-6	.	K	4689;3	ENSP00000354117:E4689K	ENSP00000304714:E3K	E	-	1	0	TTN	179321307	0.010000	0.17322	0.218000	0.23776	0.294000	0.27393	0.555000	0.23422	-0.019000	0.14055	0.650000	0.86243	GAG		0.318	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		47	63	0	0	0	0.013114	0	47	63		
TTN	7273	broad.mit.edu	37	2	179616411	179616411	+	Intron	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:179616411G>T	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.D3572E|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			CAGAATCTCTGTCTTGGACCC	0.403																																						uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10714-10716)GAC>GAA		titin isoform novex-3							77.0	82.0	81.0					2																	179616411		2201	4299	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616411G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1439C>A	2.37:g.179616411G>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.D3572E	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10940	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.10716C>A		.	.	.	.	.	.	.	.	.	.	G	0.027	-1.363918	0.01235	.	.	ENSG00000155657	ENST00000360870	T	0.39056	1.1	5.76	-3.33	0.04958	.	.	.	.	.	T	0.10981	0.0268	N	0.02403	-0.565	0.41517	D	0.988375	B	0.02656	0.0	B	0.04013	0.001	T	0.42155	-0.9468	9	0.02654	T	1	.	3.2696	0.06876	0.2708:0.2335:0.4086:0.0871	.	3572	Q8WZ42-6	.	E	3572	ENSP00000354117:D3572E	ENSP00000354117:D3572E	D	-	3	2	TTN	179324656	0.032000	0.19561	0.008000	0.14137	0.199000	0.23934	-0.617000	0.05584	-0.640000	0.05495	-0.150000	0.13652	GAC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		19	104	1	0	6.94344e-10	0.006122	8.04717e-10	19	104		
C2orf47	79568	broad.mit.edu	37	2	200820940	200820940	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:200820940G>A	ENST00000392290.1	+	1	615	c.419G>A	c.(418-420)aGc>aAc	p.S140N	C2orf47_ENST00000295079.2_Missense_Mutation_p.S140N|TYW5_ENST00000452512.2_5'Flank|TYW5_ENST00000354611.4_5'Flank			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	140						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						AAAGAGTTCAGCATCACAGAG	0.463																																						uc002uvm.2		NaN																	0					0						c.(418-420)AGC>AAC		hypothetical protein LOC79568 precursor							98.0	106.0	103.0					2																	200820940		2203	4300	6503	SO:0001583	missense	79568					mitochondrion		g.chr2:200820940G>A	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.419G>A	2.37:g.200820940G>A	ENSP00000376111:p.Ser140Asn					C2orf60_uc002uvj.3_5'Flank|C2orf60_uc002uvi.3_5'Flank|C2orf60_uc002uvk.3_5'Flank|C2orf60_uc010fss.2_5'Flank|C2orf60_uc002uvl.2_5'Flank	p.S140N	NM_024520	NP_078796	Q8WWC4	CB047_HUMAN			2	741	+			140					Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	c.419G>A	CCDS2329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.250894|2.250894	0.39797|0.39797	.|.	.|.	ENSG00000162972|ENSG00000162972	ENST00000435773|ENST00000295079;ENST00000392290	.|T;T	.|0.19806	.|2.12;2.12	6.07|6.07	1.98|1.98	0.26296|0.26296	.|.	.|0.214719	.|0.64402	.|D	.|0.000017	T|T	0.14013|0.14013	0.0339|0.0339	L|L	0.37800|0.37800	1.135|1.135	0.37801|0.37801	D|D	0.927701|0.927701	.|B	.|0.14805	.|0.011	.|B	.|0.17433	.|0.018	T|T	0.09509|0.09509	-1.0671|-1.0671	5|10	.|0.30854	.|T	.|0.27	-10.9654|-10.9654	6.5133|6.5133	0.22234|0.22234	0.1953:0.2423:0.5624:0.0|0.1953:0.2423:0.5624:0.0	.|.	.|140	.|Q8WWC4	.|CB047_HUMAN	T|N	133|140	.|ENSP00000295079:S140N;ENSP00000376111:S140N	.|ENSP00000295079:S140N	A|S	+|+	1|2	0|0	C2orf47|C2orf47	200529185|200529185	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	0.478000|0.478000	0.22212|0.22212	0.874000|0.874000	0.35823|0.35823	0.655000|0.655000	0.94253|0.94253	GCA|AGC		0.463	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1		NM_024520		27	84	0	0	0	0.00632	0	27	84		
TRAF3IP1	26146	broad.mit.edu	37	2	239234477	239234477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:239234477C>T	ENST00000373327.4	+	3	442	c.220C>T	c.(220-222)Caa>Taa	p.Q74*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.Q74*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.Q74*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	74	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TAGCTTCCTACAAAAGGCCAT	0.423																																						uc002vye.2		NaN																	0				ovary(1)	1						c.(220-222)CAA>TAA		TNF receptor-associated factor 3 interacting							80.0	77.0	78.0					2																	239234477		2203	4300	6503	SO:0001587	stop_gained	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239234477C>T	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.220C>T	2.37:g.239234477C>T	ENSP00000362424:p.Gln74*					TRAF3IP1_uc002vyf.2_Nonsense_Mutation_p.Q74*	p.Q74*	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	3	339	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	74			Abolishes microtubules-binding when missing.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Nonsense_Mutation	SNP	ENST00000373327.4	37	c.220C>T	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	C	38	6.996744	0.97990	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-42.8147	17.3403	0.87293	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000362424:Q74X	Q	+	1	0	TRAF3IP1	238899216	1.000000	0.71417	0.969000	0.41365	0.890000	0.51754	7.400000	0.79949	2.080000	0.62538	0.655000	0.94253	CAA		0.423	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1		NM_015650		12	53	0	0	0	0.001855	0	12	53		
VPS16	64601	broad.mit.edu	37	20	2842542	2842542	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:2842542C>A	ENST00000380445.3	+	10	1063	c.991C>A	c.(991-993)Cca>Aca	p.P331T	VPS16_ENST00000380469.3_Intron|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	331					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCATGAGGTTCCAGGTGAGGC	0.612																																						uc002whe.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(991-993)CCA>ACA		vacuolar protein sorting 16 isoform 1							54.0	50.0	51.0					20																	2842542		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2842542C>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.991C>A	20.37:g.2842542C>A	ENSP00000369810:p.Pro331Thr					VPS16_uc002whh.2_5'Flank|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Intron|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank|VPS16_uc002whi.2_5'Flank	p.P331T	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			10	1039	+			331					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.991C>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199969	0.79015	.	.	ENSG00000215305	ENST00000380445;ENST00000417508	T	0.57436	0.4	4.82	4.82	0.62117	Vps16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75164	-0.3414	10	0.72032	D	0.01	-10.9278	13.2718	0.60165	0.0:1.0:0.0:0.0	.	331	Q9H269	VPS16_HUMAN	T	331;213	ENSP00000369810:P331T	ENSP00000369810:P331T	P	+	1	0	VPS16	2790542	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.339000	0.65953	2.525000	0.85131	0.650000	0.86243	CCA		0.612	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2		NM_022575		7	22	1	0	5.18039e-06	0.00308	5.69133e-06	7	22		
LAMP5	24141	broad.mit.edu	37	20	9496203	9496203	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:9496203G>C	ENST00000246070.2	+	2	660	c.168G>C	c.(166-168)acG>acC	p.T56T	LAMP5_ENST00000427562.2_Silent_p.T56T|RP5-1119D9.4_ENST00000443469.1_RNA	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	56						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											ATGGGACGACGTGTCTCATGG	0.458																																						uc002wni.1		NaN																	0				upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(166-168)ACG>ACC		chromosome 20 open reading frame 103 precursor							115.0	113.0	114.0					20																	9496203		2203	4300	6503	SO:0001819	synonymous_variant	24141					integral to membrane		g.chr20:9496203G>C	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.168G>C	20.37:g.9496203G>C						C20orf103_uc010zrc.1_Silent_p.T56T	p.T56T	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		2	397	+			56			Extracellular (Potential).		B4DHZ7|B7Z9Z9	Silent	SNP	ENST00000246070.2	37	c.168G>C	CCDS13106.1																																																																																				0.458	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2		NM_012261		12	112	0	0	0	0.010729	0	12	112		
ANKEF1	63926	broad.mit.edu	37	20	10030184	10030184	+	Missense_Mutation	SNP	C	C	G	rs186921087	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:10030184C>G	ENST00000378380.3	+	6	1296	c.967C>G	c.(967-969)Cca>Gca	p.P323A	SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.P323A|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	323							calcium ion binding (GO:0005509)										AAATCCAAATCCACTGTGGGC	0.517													C|||	4	0.000798722	0.0	0.0029	5008	,	,		16770	0.0		0.002	False		,,,				2504	0.0					uc002wno.2		NaN																	0				ovary(1)|breast(1)	2						c.(967-969)CCA>GCA		ankyrin repeat domain protein 5							77.0	80.0	79.0					20																	10030184		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10030184C>G	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.967C>G	20.37:g.10030184C>G	ENSP00000367631:p.Pro323Ala					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.P323A|ANKRD5_uc010gbz.2_Missense_Mutation_p.P134A	p.P323A	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			7	1360	+			323					B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.967C>G	CCDS13108.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	13.01	2.108713	0.37242	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.65916	-0.18;-0.18	5.6	5.6	0.85130	Ankyrin repeat-containing domain (1);	0.174664	0.52532	D	0.000076	T	0.67524	0.2902	M	0.69823	2.125	0.47994	D	0.999563	D	0.53151	0.958	P	0.45138	0.471	T	0.67764	-0.5586	10	0.35671	T	0.21	-0.8876	19.9823	0.97331	0.0:1.0:0.0:0.0	.	323	Q9NU02	ANKR5_HUMAN	A	323	ENSP00000367644:P323A;ENSP00000367631:P323A	ENSP00000367631:P323A	P	+	1	0	ANKRD5	9978184	0.995000	0.38212	0.976000	0.42696	0.019000	0.09904	2.302000	0.43637	2.788000	0.95919	0.650000	0.86243	CCA		0.517	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2		NM_022096		7	80	0	0	0	0.001984	0	7	80		
RIN2	54453	broad.mit.edu	37	20	19977359	19977359	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:19977359C>G	ENST00000255006.6	+	11	2533	c.2384C>G	c.(2383-2385)tCt>tGt	p.S795C	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.S313C	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	746	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GGAGCACTTTCTCTGATAAAG	0.527																																						uc002wro.1		NaN																	0				lung(4)|ovary(1)	5						c.(2236-2238)TCT>TGT		Ras and Rab interactor 2							68.0	73.0	71.0					20																	19977359		1954	4157	6111	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19977359C>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2384C>G	20.37:g.19977359C>G	ENSP00000255006:p.Ser795Cys					RIN2_uc010gcu.1_Missense_Mutation_p.S313C|RIN2_uc010gcv.1_Missense_Mutation_p.S540C	p.S746C	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			10	2273	+			746			VPS9.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.2237C>G	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197774	0.79015	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.33865	1.39;1.39	5.69	5.69	0.88448	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.116020	0.64402	D	0.000011	T	0.60470	0.2271	M	0.67625	2.065	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.80764	0.979;0.994	T	0.56661	-0.7942	9	.	.	.	-23.9969	19.4007	0.94629	0.0:1.0:0.0:0.0	.	313;746	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	C	795;313	ENSP00000255006:S795C;ENSP00000391239:S313C	.	S	+	2	0	RIN2	19925359	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.089000	0.71384	2.682000	0.91365	0.655000	0.94253	TCT		0.527	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1				5	28	0	0	0	0.000602	0	5	28		
NINL	22981	broad.mit.edu	37	20	25484683	25484683	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:25484683C>T	ENST00000278886.6	-	7	839	c.766G>A	c.(766-768)Gag>Aag	p.E256K	NINL_ENST00000422516.1_Missense_Mutation_p.E256K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	256	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGAATTCCTCAAGACTCACT	0.498																																						uc002wux.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(766-768)GAG>AAG		ninein-like							179.0	163.0	168.0					20																	25484683		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25484683C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.766G>A	20.37:g.25484683C>T	ENSP00000278886:p.Glu256Lys					NINL_uc010gdn.1_Missense_Mutation_p.E256K|NINL_uc010gdo.1_Missense_Mutation_p.E96K|NINL_uc010ztf.1_Missense_Mutation_p.E272K	p.E256K	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			7	840	-			256			Potential.|EF-hand 4.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.766G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280259	0.40294	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.79749	-1.3;-1.3	5.0	1.8	0.24995	EF-hand-like domain (1);	0.608574	0.16464	N	0.213279	T	0.68220	0.2977	L	0.45352	1.415	0.09310	N	1	B;B	0.25772	0.062;0.134	B;B	0.27887	0.046;0.084	T	0.52200	-0.8607	10	0.23891	T	0.37	-13.1489	4.1314	0.10151	0.0:0.3846:0.3729:0.2424	.	256;256	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	K	256	ENSP00000278886:E256K;ENSP00000410431:E256K	ENSP00000278886:E256K	E	-	1	0	NINL	25432683	0.053000	0.20554	0.255000	0.24374	0.997000	0.91878	0.298000	0.19120	0.690000	0.31570	0.655000	0.94253	GAG		0.498	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176		33	113	0	0	0	0.009535	0	33	113		
MYLK2	85366	broad.mit.edu	37	20	30419638	30419638	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:30419638C>T	ENST00000375994.2	+	10	1830	c.1557C>T	c.(1555-1557)aaC>aaT	p.N519N	MYLK2_ENST00000375985.4_Silent_p.N519N|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGTCTCCAACCTCATCGTCA	0.517																																						uc002wwq.2		NaN																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(1555-1557)AAC>AAT		skeletal myosin light chain kinase							113.0	99.0	104.0					20																	30419638		2203	4300	6503	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30419638C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1557C>T	20.37:g.30419638C>T						MYLK2_uc002wws.2_Silent_p.N136N|MYLK2_uc010gdw.1_RNA	p.N519N	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		11	1659	+			519			Protein kinase.		Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.1557C>T	CCDS13191.1																																																																																				0.517	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2		NM_033118		7	75	0	0	0	0.00308	0	7	75		
MYLK2	85366	broad.mit.edu	37	20	30419888	30419888	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:30419888C>T	ENST00000375994.2	+	11	1932	c.1659C>T	c.(1657-1659)cgC>cgT	p.R553R	MYLK2_ENST00000375985.4_Silent_p.R553R|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	553					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTAACCGACGCCTTAAGTCCC	0.592																																						uc002wwq.2		NaN																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(1657-1659)CGC>CGT		skeletal myosin light chain kinase							45.0	37.0	40.0					20																	30419888		2203	4300	6503	SO:0001819	synonymous_variant	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30419888C>T	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1659C>T	20.37:g.30419888C>T						MYLK2_uc002wws.2_Silent_p.R170R|MYLK2_uc010gdw.1_RNA	p.R553R	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		12	1761	+			553					Q569L1|Q96I84	Silent	SNP	ENST00000375994.2	37	c.1659C>T	CCDS13191.1																																																																																				0.592	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2		NM_033118		7	12	0	0	0	0.001984	0	7	12		
SUN5	140732	broad.mit.edu	37	20	31573573	31573573	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:31573573A>T	ENST00000356173.3	-	11	958	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	SUN5_ENST00000375523.3_Missense_Mutation_p.L264Q	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	289	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GGCGGTGTCCAGGCTGCCTGA	0.562																																						uc002wyi.2		NaN																	0				skin(1)	1						c.(865-867)CTG>CAG		sperm associated antigen 4-like							158.0	118.0	132.0					20																	31573573		2203	4300	6503	SO:0001583	missense	140732				spermatogenesis			g.chr20:31573573A>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.866T>A	20.37:g.31573573A>T	ENSP00000348496:p.Leu289Gln						p.L289Q	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			11	959	-			289			SUN.		A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.866T>A	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339023	0.60963	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.79653	-1.29;-1.29	5.71	4.59	0.56863	Sad1/UNC-like, C-terminal (2);	0.366839	0.26317	N	0.025068	D	0.87245	0.6129	M	0.76170	2.325	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	D	0.86417	0.1752	10	0.56958	D	0.05	-17.7862	8.9299	0.35663	0.8344:0.0:0.0:0.1656	.	289	Q8TC36	SUN5_HUMAN	Q	289;264	ENSP00000348496:L289Q;ENSP00000364673:L264Q	ENSP00000348496:L289Q	L	-	2	0	SUN5	31037234	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	5.146000	0.64845	0.948000	0.37687	0.533000	0.62120	CTG		0.562	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1		NM_080675		4	40	0	0	0	0.009096	0	4	40		
BPIFB3	359710	broad.mit.edu	37	20	31644371	31644371	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:31644371G>A	ENST00000375494.3	+	2	148	c.148G>A	c.(148-150)Gag>Aag	p.E50K	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	50	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ACTGGTTGGGGAGCCCATTCT	0.607																																						uc002wym.1		NaN																	0				ovary(4)	4						c.(148-150)GAG>AAG		antimicrobial peptide RYA3 precursor							95.0	96.0	96.0					20																	31644371		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31644371G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.148G>A	20.37:g.31644371G>A	ENSP00000364643:p.Glu50Lys						p.E50K	NM_182658	NP_872599	P59826	LPLC3_HUMAN			2	148	+			50			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.148G>A	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081444	0.55753	.	.	ENSG00000186190	ENST00000375494	T	0.05025	3.51	4.57	4.57	0.56435	.	0.224806	0.31061	N	0.008337	T	0.03053	0.0090	N	0.08118	0	0.19775	N	0.999955	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.02654	T	1	-7.6424	12.7229	0.57152	0.0:0.0:1.0:0.0	.	50	P59826	BPIB3_HUMAN	K	50	ENSP00000364643:E50K	ENSP00000364643:E50K	E	+	1	0	BPIFB3	31108032	1.000000	0.71417	0.804000	0.32291	0.894000	0.52154	4.133000	0.57983	2.344000	0.79699	0.655000	0.94253	GAG		0.607	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2		NM_182658		43	73	0	0	0	0.00874	0	43	73		
DLGAP4	22839	broad.mit.edu	37	20	35064619	35064619	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:35064619C>T	ENST00000373907.2	+	3	1306	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y	DLGAP4_ENST00000339266.5_Silent_p.Y369Y|DLGAP4_ENST00000401952.2_Silent_p.Y369Y|DLGAP4_ENST00000373913.3_Silent_p.Y369Y			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	369					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCGGCAGCTACATCAAGGCCA	0.736																																						uc002xff.2		NaN																	0				skin(2)|ovary(1)	3						c.(1105-1107)TAC>TAT		disks large-associated protein 4 isoform a							13.0	15.0	14.0					20																	35064619		2163	4250	6413	SO:0001819	synonymous_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35064619C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1107C>T	20.37:g.35064619C>T						DLGAP4_uc010zvp.1_Silent_p.Y369Y	p.Y369Y	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			4	1542	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	369					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	ENST00000373907.2	37	c.1107C>T																																																																																					0.736	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2		NM_014902		3	11	0	0	0	0.004672	0	3	11		
TTI1	9675	broad.mit.edu	37	20	36641207	36641207	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:36641207C>A	ENST00000373448.2	-	3	1250	c.1012G>T	c.(1012-1014)Gga>Tga	p.G338*	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Nonsense_Mutation_p.G338*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.G338*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	338					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTACTAGTCCCACTAAGGCC	0.468																																						uc002xhl.2		NaN																	0					0						c.(1012-1014)GGA>TGA		hypothetical protein LOC9675							116.0	117.0	116.0					20																	36641207		2203	4300	6503	SO:0001587	stop_gained	9675						binding	g.chr20:36641207C>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1012G>T	20.37:g.36641207C>A	ENSP00000362547:p.Gly338*					KIAA0406_uc002xhm.2_Nonsense_Mutation_p.G338*	p.G338*	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	1221	-		Myeloproliferative disorder(115;0.00874)	338					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP	ENST00000373448.2	37	c.1012G>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642863	0.87859	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.64	0.348	0.16026	.	0.239660	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.5515	5.2144	0.15334	0.1317:0.5753:0.0:0.2931	.	.	.	.	X	338	.	ENSP00000362546:G338X	G	-	1	0	TTI1	36074621	0.914000	0.31030	0.785000	0.31869	0.834000	0.47266	1.779000	0.38624	-0.049000	0.13379	0.650000	0.86243	GGA		0.468	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2		NM_014657		28	170	1	0	4.22769e-11	0.00632	4.95703e-11	28	170		
CHD6	84181	broad.mit.edu	37	20	40049171	40049171	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:40049171C>G	ENST00000373233.3	-	31	6281	c.6104G>C	c.(6103-6105)aGa>aCa	p.R2035T		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2035					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTTCCGTCTCTATCATAATC	0.433																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6103-6105)AGA>ACA		chromodomain helicase DNA binding protein 6							133.0	124.0	127.0					20																	40049171		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049171C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6104G>C	20.37:g.40049171C>G	ENSP00000362330:p.Arg2035Thr						p.R2035T	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	6282	-		Myeloproliferative disorder(115;0.00425)	2035					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6104G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836379	0.32421	.	.	ENSG00000124177	ENST00000373233	D	0.86366	-2.11	5.97	1.43	0.22495	.	0.408748	0.23569	N	0.046770	T	0.79661	0.4484	L	0.48642	1.525	0.36164	D	0.848298	B	0.27559	0.181	B	0.24155	0.051	T	0.75714	-0.3221	10	0.62326	D	0.03	-6.3142	6.2104	0.20626	0.0:0.4175:0.0:0.5825	.	2035	Q8TD26	CHD6_HUMAN	T	2035	ENSP00000362330:R2035T	ENSP00000362330:R2035T	R	-	2	0	CHD6	39482585	0.997000	0.39634	0.190000	0.23270	0.940000	0.58332	1.513000	0.35823	0.412000	0.25729	0.655000	0.94253	AGA		0.433	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				18	89	0	0	0	0.006122	0	18	89		
CHD6	84181	broad.mit.edu	37	20	40052303	40052303	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:40052303C>T	ENST00000373233.3	-	30	4561	c.4384G>A	c.(4384-4386)Gtg>Atg	p.V1462M		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1462	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AAGGAAGACACTGTTCTATAG	0.408																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(4384-4386)GTG>ATG		chromodomain helicase DNA binding protein 6							125.0	128.0	127.0					20																	40052303		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40052303C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4384G>A	20.37:g.40052303C>T	ENSP00000362330:p.Val1462Met						p.V1462M	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			30	4562	-		Myeloproliferative disorder(115;0.00425)	1462					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.4384G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253176	0.95336	.	.	ENSG00000124177	ENST00000373233	D	0.92595	-3.07	5.91	5.91	0.95273	SANT domain, DNA binding (1);	0.000000	0.56097	D	0.000034	D	0.96876	0.8980	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96891	0.9653	10	0.87932	D	0	-19.6562	20.3053	0.98627	0.0:1.0:0.0:0.0	.	1462	Q8TD26	CHD6_HUMAN	M	1462	ENSP00000362330:V1462M	ENSP00000362330:V1462M	V	-	1	0	CHD6	39485717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.808000	0.96608	0.655000	0.94253	GTG		0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				12	167	0	0	0	0.013537	0	12	167		
SEMG2	6407	broad.mit.edu	37	20	43851768	43851768	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:43851768G>A	ENST00000372769.3	+	2	1585	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	499	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TTTCCAAATTGAAAAGCTAGT	0.398																																						uc010ggz.2		NaN																	0				skin(1)	1						c.(1495-1497)GAA>AAA		semenogelin II precursor							80.0	77.0	78.0					20																	43851768		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851768G>A		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1495G>A	20.37:g.43851768G>A	ENSP00000361855:p.Glu499Lys					SEMG2_uc002xnk.2_Missense_Mutation_p.E499K|SEMG2_uc002xnl.2_Intron	p.E499K	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	1552	+		Myeloproliferative disorder(115;0.0122)	499			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1495G>A	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901287	0.33535	.	.	ENSG00000124157	ENST00000372769	T	0.10288	2.89	1.52	-1.97	0.07503	.	.	.	.	.	T	0.23532	0.0569	M	0.68593	2.085	0.09310	N	1	D;D	0.69078	0.979;0.997	D;D	0.77004	0.973;0.989	T	0.08932	-1.0698	9	0.59425	D	0.04	.	5.1594	0.15053	0.5887:0.0:0.4113:0.0	.	499;499	A8K6Z6;Q02383	.;SEMG2_HUMAN	K	499	ENSP00000361855:E499K	ENSP00000361855:E499K	E	+	1	0	SEMG2	43285182	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.387000	0.02535	-0.621000	0.05633	-0.136000	0.14681	GAA		0.398	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1		NM_003008		6	77	0	0	0	0.001168	0	6	77		
WFDC13	164237	broad.mit.edu	37	20	44330835	44330835	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:44330835A>C	ENST00000305479.2	+	1	181	c.73A>C	c.(73-75)Aag>Cag	p.K25Q	WFDC10B_ENST00000330523.5_Intron|MIR3617_ENST00000577518.1_RNA|WFDC10B_ENST00000335769.2_Intron	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	25	WAP; atypical.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				TGGGAGTCCCAAGCAGCGTGT	0.562																																						uc002xpd.2		NaN																	0					0						c.(73-75)AAG>CAG		WAP four-disulfide core domain 13 precursor							106.0	80.0	89.0					20																	44330835		2203	4300	6503	SO:0001583	missense	164237					extracellular region	peptidase inhibitor activity	g.chr20:44330835A>C	AF454505	CCDS13367.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000168634	ENSG00000168634		"""WAP four-disulfide core domain containing"""	16131	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 138"""	C20orf138		12206714	Standard	NM_172005		Approved	dJ601O1.3, WAP13	uc002xpd.3	Q8IUB5	OTTHUMG00000046333	ENST00000305479.2:c.73A>C	20.37:g.44330835A>C	ENSP00000302938:p.Lys25Gln					WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron	p.K25Q	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN			1	181	+		Myeloproliferative disorder(115;0.0122)	25					Q5TEU7|Q8WWK7	Missense_Mutation	SNP	ENST00000305479.2	37	c.73A>C	CCDS13367.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397021	0.42512	.	.	ENSG00000168634	ENST00000305479	T	0.54071	0.59	3.82	2.71	0.32032	.	0.878400	0.09604	N	0.779856	T	0.59528	0.2200	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.64776	0.929	T	0.44528	-0.9322	9	0.23302	T	0.38	-2.0327	5.8473	0.18673	0.8788:0.0:0.1212:0.0	.	25	Q8IUB5	WFD13_HUMAN	Q	25	ENSP00000302938:K25Q	ENSP00000302938:K25Q	K	+	1	0	WFDC13	43764249	0.040000	0.19996	0.014000	0.15608	0.004000	0.04260	1.211000	0.32382	0.823000	0.34589	0.528000	0.53228	AAG		0.562	WFDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106946.1				4	22	0	0	0	0.009096	0	4	22		
PCIF1	63935	broad.mit.edu	37	20	44574444	44574444	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:44574444G>C	ENST00000372409.3	+	12	1627	c.1263G>C	c.(1261-1263)atG>atC	p.M421I	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	421					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCGTGGAGATGCACATGGAGA	0.612																																						uc002xqs.2		NaN																	0				skin(1)	1						c.(1261-1263)ATG>ATC		phosphorylated CTD interacting factor 1							104.0	96.0	99.0					20																	44574444		2203	4300	6503	SO:0001583	missense	63935					nucleus		g.chr20:44574444G>C	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1263G>C	20.37:g.44574444G>C	ENSP00000361486:p.Met421Ile					PCIF1_uc002xqt.2_Missense_Mutation_p.M1I|PCIF1_uc002xqu.2_5'Flank	p.M421I	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			12	1577	+			421					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.1263G>C	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241968	0.39598	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.28	5.28	0.74379	.	0.153157	0.64402	D	0.000009	T	0.31482	0.0798	N	0.08118	0	0.40096	D	0.976312	B	0.14805	0.011	B	0.10450	0.005	T	0.13737	-1.0498	9	0.33940	T	0.23	-19.4232	11.1631	0.48526	0.084:0.0:0.916:0.0	.	421	Q9H4Z3	PCIF1_HUMAN	I	421	.	ENSP00000361486:M421I	M	+	3	0	PCIF1	44007851	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.037000	0.49775	2.764000	0.94973	0.558000	0.71614	ATG		0.612	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1		NM_022104		9	105	0	0	0	0.006214	0	9	105		
KCNB1	3745	broad.mit.edu	37	20	47990502	47990502	+	Missense_Mutation	SNP	A	A	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:47990502A>C	ENST00000371741.4	-	2	1761	c.1595T>G	c.(1594-1596)aTg>aGg	p.M532R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	532					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTTATTGTACATGTCTTCCAA	0.468																																						uc002xur.1		NaN																	0				pancreas(1)|skin(1)	2						c.(1594-1596)ATG>AGG		potassium voltage-gated channel, Shab-related							260.0	236.0	244.0					20																	47990502		2203	4300	6503	SO:0001583	missense	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990502A>C	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1595T>G	20.37:g.47990502A>C	ENSP00000360806:p.Met532Arg					KCNB1_uc002xus.1_Missense_Mutation_p.M532R	p.M532R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1759	-			532			Cytoplasmic (Potential).		Q14193	Missense_Mutation	SNP	ENST00000371741.4	37	c.1595T>G	CCDS13418.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.351355	0.61183	.	.	ENSG00000158445	ENST00000371741;ENST00000538812	T	0.24723	1.84	6.07	6.07	0.98685	.	0.442607	0.25654	N	0.029190	T	0.42449	0.1203	L	0.59436	1.845	0.80722	D	1	P	0.52316	0.952	P	0.54965	0.765	T	0.15150	-1.0447	10	0.49607	T	0.09	.	16.3023	0.82830	1.0:0.0:0.0:0.0	.	532	Q14721	KCNB1_HUMAN	R	532;487	ENSP00000360806:M532R	ENSP00000360806:M532R	M	-	2	0	KCNB1	47423909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.515000	0.81761	2.326000	0.78906	0.533000	0.62120	ATG		0.468	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3		NM_004975		18	201	0	0	0	0.00499	0	18	201		
BCAS4	55653	broad.mit.edu	37	20	49493030	49493030	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:49493030C>G	ENST00000358791.5	+	6	694	c.594C>G	c.(592-594)acC>acG	p.T198T	BCAS4_ENST00000262591.5_Missense_Mutation_p.P121R|BCAS4_ENST00000371608.2_Missense_Mutation_p.P166R|BCAS4_ENST00000609336.1_Silent_p.T168T	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	198						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CAGAAGTCACCTGCACCGGTG	0.557																																						uc002xvq.2		NaN																	0					0						c.(592-594)ACC>ACG		breast carcinoma amplified sequence 4 isoform a							100.0	90.0	94.0					20																	49493030		2203	4300	6503	SO:0001819	synonymous_variant	55653					cytoplasm		g.chr20:49493030C>G	AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.594C>G	20.37:g.49493030C>G						BCAS4_uc002xvr.2_Missense_Mutation_p.P166R|BCAS4_uc002xvs.2_Missense_Mutation_p.P121R	p.T198T	NM_017843	NP_060313	Q8TDM0	BCAS4_HUMAN			6	658	+			198					Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Silent	SNP	ENST00000358791.5	37	c.594C>G	CCDS33487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.863|6.863	0.528634|0.528634	0.13127|0.13127	.|.	.|.	ENSG00000124243|ENSG00000124243	ENST00000445038|ENST00000262591;ENST00000371608	.|T;T	.|0.43688	.|0.94;0.97	3.99|3.99	-0.357|-0.357	0.12579|0.12579	.|.	.|.	.|.	.|.	.|.	T|T	0.22627|0.22627	0.0546|0.0546	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B	.|0.29508	.|0.246;0.246	.|B;B	.|0.26416	.|0.069;0.066	T|T	0.18429|0.18429	-1.0337|-1.0337	4|8	.|0.24483	.|T	.|0.36	.|.	4.8142|4.8142	0.13358|0.13358	0.0:0.419:0.3734:0.2077|0.0:0.419:0.3734:0.2077	.|.	.|121;166	.|Q8TDM0-2;Q8TDM0-3	.|.;.	V|R	96|121;166	.|ENSP00000262591:P121R;ENSP00000360669:P166R	.|ENSP00000262591:P121R	L|P	+|+	1|2	2|0	BCAS4|BCAS4	48926437|48926437	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.205000|-0.205000	0.09411|0.09411	-0.123000|-0.123000	0.11745|0.11745	-0.229000|-0.229000	0.12294|0.12294	CTG|CCT		0.557	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1		NM_017843		16	107	0	0	0	0.004007	0	16	107		
UCKL1	54963	broad.mit.edu	37	20	62575994	62575994	+	Missense_Mutation	SNP	C	C	T	rs369768152		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr20:62575994C>T	ENST00000354216.6	-	6	790	c.748G>A	c.(748-750)Gag>Aag	p.E250K	UCKL1_ENST00000358711.3_Missense_Mutation_p.E250K|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Missense_Mutation_p.E235K|UCKL1_ENST00000492660.1_5'Flank|UCKL1_ENST00000369892.3_Missense_Mutation_p.E250K	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	250					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGACACCCTCGATGTCCCGG	0.602																																						uc010gkn.2		NaN																	0					0						c.(748-750)GAG>AAG		uridine-cytidine kinase 1-like 1		C	LYS/GLU,LYS/GLU	1,4397	2.1+/-5.4	0,1,2198	195.0	116.0	142.0		748,703	4.9	1.0	20		142	0,8596		0,0,4298	no	missense,missense	UCKL1	NM_017859.3,NM_001193379.1	56,56	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	250/549,235/534	62575994	1,12993	2199	4298	6497	SO:0001583	missense	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62575994C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.748G>A	20.37:g.62575994C>T	ENSP00000346155:p.Glu250Lys					UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Missense_Mutation_p.E235K|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|MIR647_hsa-mir-647|MI0003662_5'Flank	p.E250K	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			6	791	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		250					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	c.748G>A	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162181	0.78226	2.27E-4	0.0	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908	.	.	.	5.84	4.87	0.63330	Phosphoribulokinase/uridine kinase (1);	0.050022	0.85682	D	0.000000	T	0.62600	0.2441	M	0.79011	2.435	0.42474	D	0.992833	B;B	0.31413	0.032;0.322	B;B	0.25884	0.006;0.064	T	0.63097	-0.6713	9	0.33940	T	0.23	-45.2164	16.172	0.81825	0.1343:0.8657:0.0:0.0	.	235;250	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	K	250;250;250;235	.	ENSP00000346155:E250K	E	-	1	0	UCKL1	62046438	1.000000	0.71417	0.959000	0.39883	0.963000	0.63663	5.611000	0.67674	1.427000	0.47276	0.561000	0.74099	GAG		0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1		NM_017859		6	29	0	0	0	0.001984	0	6	29		
ADAMTS5	11096	broad.mit.edu	37	21	28304481	28304481	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:28304481C>T	ENST00000284987.5	-	6	2012	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	631	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCACACTGTTCATGACGAAAT	0.363																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1891-1893)GAA>AAA		ADAM metallopeptidase with thrombospondin type 1							118.0	103.0	108.0					21																	28304481		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28304481C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1891G>A	21.37:g.28304481C>T	ENSP00000284987:p.Glu631Lys						p.E631K	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			6	2620	-			631			Cys-rich.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1891G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065299	0.76187	.	.	ENSG00000154736	ENST00000284987	T	0.03468	3.92	5.67	5.67	0.87782	.	0.048713	0.85682	D	0.000000	T	0.07279	0.0184	M	0.68317	2.08	0.50813	D	0.99989	P	0.48294	0.908	B	0.41860	0.368	T	0.20405	-1.0276	10	0.37606	T	0.19	.	15.2693	0.73686	0.0:0.8602:0.1398:0.0	.	631	Q9UNA0	ATS5_HUMAN	K	631	ENSP00000284987:E631K	ENSP00000284987:E631K	E	-	1	0	ADAMTS5	27226352	1.000000	0.71417	0.957000	0.39632	0.889000	0.51656	4.517000	0.60503	2.669000	0.90835	0.655000	0.94253	GAA		0.363	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1				7	37	0	0	0	0.001984	0	7	37		
KRTAP27-1	643812	broad.mit.edu	37	21	31709409	31709409	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:31709409T>C	ENST00000382835.2	-	1	603	c.578A>G	c.(577-579)gAa>gGa	p.E193G		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	193						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GCAAGTTGGTTCAACTCCTGG	0.438																																						uc002ynx.1		NaN																	0				ovary(2)	2						c.(577-579)GAA>GGA		keratin associated protein 27-1							70.0	69.0	69.0					21																	31709409		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709409T>C	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.578A>G	21.37:g.31709409T>C	ENSP00000372286:p.Glu193Gly						p.E193G	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	604	-			193						Missense_Mutation	SNP	ENST00000382835.2	37	c.578A>G	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280947	0.40394	.	.	ENSG00000206107	ENST00000382835	T	0.03386	3.95	4.17	4.17	0.49024	.	0.591573	0.15024	U	0.284847	T	0.12987	0.0315	L	0.57536	1.79	0.29716	N	0.839016	D	0.76494	0.999	D	0.72338	0.977	T	0.01143	-1.1438	10	0.62326	D	0.03	-4.1164	9.879	0.41222	0.0:0.0:0.0:1.0	.	193	Q3LI81	KR271_HUMAN	G	193	ENSP00000372286:E193G	ENSP00000372286:E193G	E	-	2	0	KRTAP27-1	30631280	0.984000	0.35163	0.557000	0.28306	0.048000	0.14542	2.976000	0.49289	2.107000	0.64212	0.477000	0.44152	GAA		0.438	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3		NM_001077711		8	52	0	0	0	0.00308	0	8	52		
SIM2	6493	broad.mit.edu	37	21	38098555	38098555	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:38098555C>T	ENST00000290399.6	+	6	1292	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	SIM2_ENST00000430056.3_Silent_p.L227L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	227	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CGAGATCAAGCTGTACAGTAA	0.567																																						uc002yvr.2		NaN																	0				central_nervous_system(1)	1						c.(679-681)CTG>TTG		single-minded homolog 2 long isoform							110.0	84.0	93.0					21																	38098555		2203	4300	6503	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38098555C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.679C>T	21.37:g.38098555C>T						SIM2_uc002yvq.2_Silent_p.L227L	p.L227L	NM_005069	NP_005060	Q14190	SIM2_HUMAN			6	735	+			227			PAS 2.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.679C>T	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	9.987	1.229619	0.22542	.	.	ENSG00000159263	ENST00000431229	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	T	0.75451	0.3851	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73209	-0.4055	4	.	.	.	.	19.6391	0.95749	0.0:1.0:0.0:0.0	.	.	.	.	V	164	.	.	A	+	2	0	SIM2	37020425	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.300000	0.78841	2.715000	0.92844	0.655000	0.94253	GCT		0.567	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1		NM_009586		7	40	0	0	0	0.00308	0	7	40		
MCM3AP	8888	broad.mit.edu	37	21	47695171	47695171	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr21:47695171C>G	ENST00000397708.1	-	7	2181	c.1927G>C	c.(1927-1929)Gag>Cag	p.E643Q	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E643Q			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	643	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCTCCTTCTCAGGACACATA	0.537																																						uc002zir.1		NaN																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(1927-1929)GAG>CAG		minichromosome maintenance complex component 3							103.0	81.0	89.0					21																	47695171		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47695171C>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1927G>C	21.37:g.47695171C>G	ENSP00000380820:p.Glu643Gln						p.E643Q	NM_003906	NP_003897	O60318	MCM3A_HUMAN			6	1963	-	Breast(49;0.112)		643					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1927G>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	34	5.292899	0.95546	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.06218	3.33;3.33	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07751	-1.0756	10	0.66056	D	0.02	-32.3096	19.9025	0.96993	0.0:1.0:0.0:0.0	.	643	O60318	MCM3A_HUMAN	Q	643	ENSP00000380820:E643Q;ENSP00000291688:E643Q	ENSP00000291688:E643Q	E	-	1	0	MCM3AP	46519599	1.000000	0.71417	0.971000	0.41717	0.911000	0.54048	7.649000	0.83500	2.722000	0.93159	0.655000	0.94253	GAG		0.537	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906		5	17	0	0	0	0.000602	0	5	17		
CLDN5	7122	broad.mit.edu	37	22	19511148	19511148	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:19511148C>T	ENST00000406028.1	-	2	1946	c.886G>A	c.(886-888)Gac>Aac	p.D296N	CLDN5_ENST00000403084.1_Missense_Mutation_p.D296N|CLDN5_ENST00000413119.2_Missense_Mutation_p.D296N			O00501	CLD5_HUMAN	claudin 5	211					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					TTGTCGTAGTCGCCGGTGGCC	0.716																																						uc002zpu.2		NaN																	0					0						c.(886-888)GAC>AAC		claudin 5							13.0	17.0	16.0					22																	19511148		2147	4223	6370	SO:0001583	missense	7122				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr22:19511148C>T	AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.886G>A	22.37:g.19511148C>T	ENSP00000385477:p.Asp296Asn					CLDN5_uc010grr.2_Missense_Mutation_p.D296N	p.D296N	NM_003277	NP_003268	O00501	CLD5_HUMAN			2	1101	-	Colorectal(54;0.0993)		211			Cytoplasmic (Potential).		B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	c.886G>A	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	34	5.347921	0.95807	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.87029	-2.2;-2.2;-2.2	4.1	4.1	0.47936	.	0.215087	0.46758	N	0.000272	T	0.80401	0.4616	N	0.08118	0	0.58432	D	0.999999	D	0.61080	0.989	P	0.49561	0.615	D	0.83416	0.0030	10	0.44086	T	0.13	.	15.6913	0.77457	0.0:1.0:0.0:0.0	.	296	D3DX19	.	N	296	ENSP00000385477:D296N;ENSP00000384554:D296N;ENSP00000400612:D296N	ENSP00000384554:D296N	D	-	1	0	CLDN5	17891148	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.279000	0.78599	2.014000	0.59158	0.462000	0.41574	GAC		0.716	CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3		NM_003277		4	29	0	0	0	0.009096	0	4	29		
SPECC1L	23384	broad.mit.edu	37	22	24717999	24717999	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:24717999G>A	ENST00000314328.9	+	5	1336	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	SPECC1L_ENST00000437398.1_Missense_Mutation_p.E351K|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.E351K|SPECC1L_ENST00000541492.1_Missense_Mutation_p.E351K|SPECC1L_ENST00000416735.1_Intron	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	351					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TGAGTGCAGTGAGGTCTACCA	0.547																																						uc002zzw.2		NaN																	0					0						c.(1051-1053)GAG>AAG		cytospin A							76.0	72.0	74.0					22																	24717999		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24717999G>A	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1051G>A	22.37:g.24717999G>A	ENSP00000325785:p.Glu351Lys					CYTSA_uc002zzv.3_Missense_Mutation_p.E351K|CYTSA_uc011ajq.1_Missense_Mutation_p.E351K	p.E351K	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			5	1358	+			351					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.1051G>A	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541277	0.85917	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.61274	0.12;2.6;0.12;3.11	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.993	P;D	0.70935	0.893;0.971	T	0.73566	-0.3942	10	0.72032	D	0.01	-25.2097	16.9826	0.86332	0.0:0.0:1.0:0.0	.	351;351	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	K	379;351;351;351;351	ENSP00000393363:E351K;ENSP00000405671:E351K;ENSP00000325785:E351K;ENSP00000439633:E351K	ENSP00000325785:E351K	E	+	1	0	SPECC1L	23047999	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	9.049000	0.93837	2.578000	0.87016	0.313000	0.20887	GAG		0.547	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2		NM_015330		13	66	0	0	0	0.013537	0	13	66		
NIPSNAP1	8508	broad.mit.edu	37	22	29966393	29966393	+	Splice_Site	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:29966393C>A	ENST00000216121.7	-	2	481		c.e2+1			NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)						sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CAGCCACTCACACTGGATCTT	0.567																																						uc003afx.3		NaN																	1	Unknown(1)	p.?(1)	lung(1)	skin(1)	1						c.e2+1		nipsnap homolog 1							75.0	72.0	73.0					22																	29966393		2203	4300	6503	SO:0001630	splice_region_variant	8508							g.chr22:29966393C>A	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.226+1G>T	22.37:g.29966393C>A						NIPSNAP1_uc011akp.1_Splice_Site_p.F56_splice	p.F76_splice	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN			2	299	-								B2RAY3|O43800	Splice_Site	SNP	ENST00000216121.7	37	c.226_splice	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604274	0.87157	.	.	ENSG00000184117	ENST00000216121;ENST00000415100	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3496	0.87320	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NIPSNAP1	28296393	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.315000	0.78998	2.489000	0.83994	0.456000	0.33151	.		0.567	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			Intron	7	36	1	0	0.000157383	0.00308	0.000168295	7	36		
PES1	23481	broad.mit.edu	37	22	30980647	30980647	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:30980647G>C	ENST00000405677.1	-	7	952	c.9C>G	c.(7-9)ttC>ttG	p.F3L	PES1_ENST00000402284.3_Missense_Mutation_p.F142L|PES1_ENST00000335214.6_Missense_Mutation_p.F142L|PES1_ENST00000354694.7_Missense_Mutation_p.F142L|PES1_ENST00000402281.1_Missense_Mutation_p.F3L	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGAAAACAGGAAGCACATGG	0.607																																						uc003aij.1		NaN																	0					0						c.(424-426)TTC>TTG		pescadillo homolog 1, containing BRCT domain							105.0	69.0	81.0					22																	30980647		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30980647G>C	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.9C>G	22.37:g.30980647G>C	ENSP00000385654:p.Phe3Leu					PES1_uc003aik.1_Missense_Mutation_p.F142L|PES1_uc003ail.1_Missense_Mutation_p.F142L|PES1_uc003aim.1_Missense_Mutation_p.F142L|PES1_uc003ain.1_Missense_Mutation_p.F3L|PES1_uc003aio.1_Missense_Mutation_p.F3L	p.F142L	NM_014303	NP_055118	O00541	PESC_HUMAN			5	500	-			142			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.426C>G		.	.	.	.	.	.	.	.	.	.	G	18.16	3.561775	0.65538	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.17	3.08	0.35506	.	0.055903	0.64402	D	0.000001	T	0.53384	0.1793	M	0.90369	3.11	0.80722	D	1	B;B;B;B	0.19817	0.039;0.014;0.003;0.039	B;B;B;B	0.24269	0.052;0.05;0.006;0.052	T	0.63377	-0.6651	10	0.72032	D	0.01	-19.9974	9.1897	0.37191	0.2127:0.0:0.7873:0.0	.	142;142;142;142	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	L	142;3;3;142;142	ENSP00000346725:F142L;ENSP00000384366:F3L;ENSP00000385654:F3L;ENSP00000384252:F142L;ENSP00000334612:F142L	ENSP00000334612:F142L	F	-	3	2	PES1	29310647	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.078000	0.41567	2.427000	0.82271	0.655000	0.94253	TTC		0.607	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2		NM_014303		4	27	0	0	0	0.009096	0	4	27		
PISD	23761	broad.mit.edu	37	22	32044244	32044244	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:32044244G>C	ENST00000439502.2	-	3	387	c.164C>G	c.(163-165)aCt>aGt	p.T55S	PISD_ENST00000336566.4_Missense_Mutation_p.T55S			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	55					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GGCAGGGGCAGTGTGGATTTT	0.527																																						uc003alm.3		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(163-165)ACT>AGT		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						19.0	18.0	18.0					22																	32044244		876	1991	2867	SO:0001583	missense	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32044244G>C		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.164C>G	22.37:g.32044244G>C	ENSP00000391739:p.Thr55Ser					PISD_uc003aln.3_Missense_Mutation_p.T55S	p.T55S	NM_014338	NP_055153	Q9UG56	PISD_HUMAN			3	171	-			55					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	ENST00000439502.2	37	c.164C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.39|15.39	2.818455|2.818455	0.50633|0.50633	.|.	.|.	ENSG00000241878|ENSG00000241878	ENST00000435900|ENST00000439502;ENST00000336566	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.381500	.|0.32563	.|N	.|0.005930	T|T	0.55768|0.55768	0.1941|0.1941	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B;P	.|0.45902	.|0.363;0.868	.|B;P	.|0.46110	.|0.138;0.504	T|T	0.49753|0.49753	-0.8906|-0.8906	4|8	.|0.22109	.|T	.|0.4	-20.3528|-20.3528	16.9157|16.9157	0.86150|0.86150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|45;55	.|B1AJZ0;Q9UG56	.|.;PISD_HUMAN	V|S	46|55	.|.	.|ENSP00000338695:T55S	L|T	-|-	1|2	2|0	PISD|PISD	30374244|30374244	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.656000|0.656000	0.38851|0.38851	6.006000|6.006000	0.70724|0.70724	2.610000|2.610000	0.88304|0.88304	0.561000|0.561000	0.74099|0.74099	CTG|ACT		0.527	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4				5	3	0	0	0	0.000602	0	5	3		
TOM1	10043	broad.mit.edu	37	22	35723369	35723369	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:35723369G>A	ENST00000449058.2	+	7	879	c.754G>A	c.(754-756)Gag>Aag	p.E252K	TOM1_ENST00000436462.2_Missense_Mutation_p.E214K|TOM1_ENST00000425375.1_Missense_Mutation_p.E207K|TOM1_ENST00000382034.5_Missense_Mutation_p.E185K|TOM1_ENST00000447733.1_Missense_Mutation_p.E219K|TOM1_ENST00000411850.1_Missense_Mutation_p.E252K	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	252	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CGCAGACCTGGAGCTGCTGCA	0.622																																						uc003ann.2		NaN																	0				ovary(1)	1						c.(754-756)GAG>AAG		target of myb1 isoform 1							90.0	71.0	77.0					22																	35723369		2203	4300	6503	SO:0001583	missense	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35723369G>A	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.754G>A	22.37:g.35723369G>A	ENSP00000394466:p.Glu252Lys					TOM1_uc011ami.1_Missense_Mutation_p.E219K|TOM1_uc011amj.1_Missense_Mutation_p.E95K|TOM1_uc003ans.2_Missense_Mutation_p.E95K|TOM1_uc011amk.1_Missense_Mutation_p.E214K|TOM1_uc003anp.2_Missense_Mutation_p.E252K|TOM1_uc011aml.1_Missense_Mutation_p.E207K|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.E246K|TOM1_uc003anr.2_Missense_Mutation_p.E95K	p.E252K	NM_005488	NP_005479	O60784	TOM1_HUMAN			7	879	+			252			GAT.		B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	c.754G>A	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860720	0.91433	.	.	ENSG00000100284	ENST00000447733;ENST00000456128;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000451197;ENST00000436462;ENST00000382034	T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45	5.38	4.37	0.52481	GAT (2);	0.338481	0.35262	N	0.003336	T	0.70928	0.3280	M	0.78916	2.43	0.58432	D	0.999998	P;D;D;P;D	0.63046	0.868;0.992;0.991;0.945;0.971	B;P;D;P;P	0.65773	0.359;0.844;0.938;0.641;0.874	T	0.75150	-0.3419	10	0.62326	D	0.03	-13.812	14.3591	0.66757	0.0716:0.0:0.9284:0.0	.	207;214;261;252;252	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	K	219;246;252;252;207;261;214;185	ENSP00000398876:E219K;ENSP00000393714:E246K;ENSP00000394466:E252K;ENSP00000413697:E252K;ENSP00000394924:E207K;ENSP00000402556:E214K;ENSP00000371465:E185K	ENSP00000371465:E185K	E	+	1	0	TOM1	34053369	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.899000	0.87370	1.264000	0.44198	0.650000	0.86243	GAG		0.622	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1		NM_005488		3	22	0	0	0	0.009096	0	3	22		
TRIOBP	11078	broad.mit.edu	37	22	38120564	38120564	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr22:38120564C>G	ENST00000406386.3	+	7	2256	c.2001C>G	c.(1999-2001)atC>atG	p.I667M		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	667					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACAGAACCATCCAACAAGAGA	0.572																																						uc003atr.2		NaN																	0				central_nervous_system(1)	1						c.(1999-2001)ATC>ATG		TRIO and F-actin binding protein isoform 6							174.0	191.0	186.0					22																	38120564		1970	4161	6131	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120564C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2001C>G	22.37:g.38120564C>G	ENSP00000384312:p.Ile667Met					TRIOBP_uc003atu.2_Missense_Mutation_p.I495M|TRIOBP_uc003atq.1_Missense_Mutation_p.I667M|TRIOBP_uc003ats.1_Missense_Mutation_p.I495M	p.I667M	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2272	+	Melanoma(58;0.0574)		667					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2001C>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	c	10.55	1.382697	0.25031	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24538	1.85	4.31	0.9	0.19278	.	.	.	.	.	T	0.15522	0.0374	N	0.19112	0.55	0.18873	N	0.999981	B	0.25955	0.138	B	0.25405	0.06	T	0.24261	-1.0165	9	0.62326	D	0.03	.	7.0687	0.25167	0.0:0.6874:0.0:0.3126	.	667	Q9H2D6	TARA_HUMAN	M	667	ENSP00000384312:I667M	ENSP00000384312:I667M	I	+	3	3	TRIOBP	36450510	0.001000	0.12720	0.031000	0.17742	0.017000	0.09413	-0.636000	0.05465	0.166000	0.19597	0.306000	0.20318	ATC		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2				18	47	0	0	0	0.006122	0	18	47		
ARPC4	10093	broad.mit.edu	37	3	9845628	9845628	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:9845628G>C	ENST00000397261.3	+	5	996	c.432G>C	c.(430-432)aaG>aaC	p.K144N	ARPC4-TTLL3_ENST00000397256.1_Intron|ARPC4_ENST00000433034.1_Missense_Mutation_p.K163N|ARPC4_ENST00000498623.2_Missense_Mutation_p.K54N|ARPC4_ENST00000287613.7_Missense_Mutation_p.K54N	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	144					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					AGATTGACAAGGAGATCAGTG	0.468																																						uc003bsz.1		NaN																	0					0						c.(430-432)AAG>AAC		actin related protein 2/3 complex subunit 4							136.0	143.0	141.0					3																	9845628		2018	4186	6204	SO:0001583	missense	10093				actin filament polymerization|actin nucleation	Arp2/3 protein complex|cell projection|cytoplasm	actin binding	g.chr3:9845628G>C	AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"""Actin related protein 2/3 complex subunits"""	707	protein-coding gene	gene with protein product	"""Arp2/3 protein complex subunit p20"", ""actin related protein 2/3 complex, subunit 4 (20 kD)"""	604226	"""actin related protein 2/3 complex, subunit 4 (20 kD)"""			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.432G>C	3.37:g.9845628G>C	ENSP00000380431:p.Lys144Asn					ARPC4_uc003bta.1_Missense_Mutation_p.K54N|ARPC4_uc003btb.1_Missense_Mutation_p.K54N|ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron	p.K144N	NM_005718	NP_005709	P59998	ARPC4_HUMAN			5	1011	+	Medulloblastoma(99;0.227)		144					C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Missense_Mutation	SNP	ENST00000397261.3	37	c.432G>C	CCDS43047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.186586|4.186586	0.78789|0.78789	.|.	.|.	ENSG00000250151|ENSG00000241553	ENST00000453882|ENST00000498623;ENST00000287613;ENST00000397261;ENST00000433034	.|.	.|.	.|.	5.95|5.95	0.986|0.986	0.19784|0.19784	.|.	.|.	.|.	.|.	.|.	T|T	0.75466|0.75466	0.3853|0.3853	M|M	0.93594|0.93594	3.435|3.435	0.80722|0.80722	D|D	1|1	.|P	.|0.48640	.|0.913	.|P	.|0.51385	.|0.668	T|T	0.77370|0.77370	-0.2613|-0.2613	5|8	.|0.87932	.|D	.|0	-7.7709|-7.7709	9.2159|9.2159	0.37346|0.37346	0.3733:0.0:0.6267:0.0|0.3733:0.0:0.6267:0.0	.|.	.|144	.|P59998	.|ARPC4_HUMAN	R|N	112|54;54;144;163	.|.	.|ENSP00000287613:K54N	G|K	+|+	1|3	0|2	ARPC4-TTLL3|ARPC4	9820628|9820628	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	2.760000|2.760000	0.47581|0.47581	0.096000|0.096000	0.17463|0.17463	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.468	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258275.2		NM_001024959		14	122	0	0	0	0.001855	0	14	122		
ATP2B2	491	broad.mit.edu	37	3	10419989	10419989	+	Missense_Mutation	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:10419989T>C	ENST00000352432.4	-	9	1217	c.1148A>G	c.(1147-1149)aAg>aGg	p.K383R	ATP2B2_ENST00000397077.1_Missense_Mutation_p.K338R|ATP2B2_ENST00000383800.4_Missense_Mutation_p.K338R|ATP2B2_ENST00000360273.2_Missense_Mutation_p.K383R|ATP2B2_ENST00000343816.4_Missense_Mutation_p.K369R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	383					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGCACGGACTTCTCCTTCTT	0.657																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1147-1149)AAG>AGG		plasma membrane calcium ATPase 2 isoform 1							90.0	82.0	85.0					3																	10419989		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10419989T>C	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1148A>G	3.37:g.10419989T>C	ENSP00000324172:p.Lys383Arg					ATP2B2_uc003bvv.2_Missense_Mutation_p.K338R|ATP2B2_uc003bvw.2_Missense_Mutation_p.K338R|ATP2B2_uc010hdo.2_Missense_Mutation_p.K88R	p.K383R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			10	1587	-			383			Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.1148A>G	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794924	0.90453	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	4.75	4.75	0.60458	ATPase, P-type, ATPase-associated domain (1);	0.047856	0.85682	D	0.000000	D	0.92648	0.7664	L	0.56769	1.78	0.80722	D	1	D;B;B	0.61697	0.99;0.045;0.113	D;B;B	0.72982	0.979;0.111;0.188	D	0.92952	0.6381	10	0.54805	T	0.06	-24.1583	14.4354	0.67277	0.0:0.0:0.0:1.0	.	318;350;383	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	R	383;338;338;383;369;318;239;383	ENSP00000324172:K383R;ENSP00000373311:K338R;ENSP00000380267:K338R;ENSP00000353414:K383R;ENSP00000344677:K369R;ENSP00000414854:K239R	ENSP00000342954:K383R	K	-	2	0	ATP2B2	10394989	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.868000	0.87116	1.997000	0.58415	0.459000	0.35465	AAG		0.657	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		8	66	0	0	0	0.00308	0	8	66		
SLC6A11	6538	broad.mit.edu	37	3	10858095	10858095	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:10858095G>A	ENST00000254488.2	+	1	211	c.145G>A	c.(145-147)Gag>Aag	p.E49K	SLC6A11_ENST00000454147.1_Missense_Mutation_p.E49K	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	49					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GGCGGTCCACGAGCGCGGCCA	0.716																																						uc003bvz.2		NaN																	0				skin(3)|ovary(1)	4						c.(145-147)GAG>AAG		solute carrier family 6 (neurotransmitter							35.0	22.0	26.0					3																	10858095		2203	4299	6502	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10858095G>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.145G>A	3.37:g.10858095G>A	ENSP00000254488:p.Glu49Lys					SLC6A11_uc003bvy.1_Missense_Mutation_p.E49K	p.E49K	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	1	179	+			49			Cytoplasmic (Potential).		B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.145G>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.660001	0.67586	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.75367	-0.93;-0.52	3.48	2.6	0.31112	.	0.133058	0.49916	D	0.000136	T	0.51517	0.1679	N	0.08118	0	0.53005	D	0.999962	P	0.49185	0.92	B	0.40329	0.326	T	0.50717	-0.8795	10	0.35671	T	0.21	.	10.5672	0.45179	0.0966:0.0:0.9034:0.0	.	49	P48066	S6A11_HUMAN	K	49	ENSP00000254488:E49K;ENSP00000404120:E49K	ENSP00000254488:E49K	E	+	1	0	SLC6A11	10833095	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.156000	0.94705	0.667000	0.31107	0.313000	0.20887	GAG		0.716	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1		NM_014229		3	13	0	0	0	0.004672	0	3	13		
ZNF502	91392	broad.mit.edu	37	3	44763523	44763523	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:44763523G>A	ENST00000296091.4	+	4	1470	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	ZNF502_ENST00000449836.1_Missense_Mutation_p.R405K|ZNF502_ENST00000436624.2_Missense_Mutation_p.R405K	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAGGGGAGAGACCCTACAAA	0.413																																						uc011baa.1		NaN																	0					0						c.(1213-1215)AGA>AAA		zinc finger protein 502							80.0	86.0	84.0					3																	44763523		2203	4300	6503	SO:0001583	missense	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763523G>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1214G>A	3.37:g.44763523G>A	ENSP00000296091:p.Arg405Lys					ZNF502_uc003cns.2_Missense_Mutation_p.R405K|ZNF502_uc011bab.1_Missense_Mutation_p.R405K|ZNF502_uc003cnt.2_Missense_Mutation_p.R405K	p.R405K	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1469	+			405						Missense_Mutation	SNP	ENST00000296091.4	37	c.1214G>A	CCDS2719.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.50|10.50	1.369012|1.369012	0.24771|0.24771	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000427783|ENST00000449836;ENST00000296091;ENST00000436624	.|T;T;T	.|0.12361	.|2.69;2.69;2.69	4.42|4.42	2.61|2.61	0.31194|0.31194	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.03209|0.03209	-0.39|-0.39	0.26365|0.26365	N|N	0.976981|0.976981	.|B	.|0.20368	.|0.044	.|B	.|0.20577	.|0.03	T|T	0.42716|0.42716	-0.9435|-0.9435	6|9	0.66056|0.02654	D|T	0.02|1	-16.4416|-16.4416	5.052|5.052	0.14513|0.14513	0.3786:0.0:0.6214:0.0|0.3786:0.0:0.6214:0.0	.|.	.|405	.|Q8TBZ5	.|ZN502_HUMAN	N|K	405|405	.|ENSP00000397390:R405K;ENSP00000296091:R405K;ENSP00000406469:R405K	ENSP00000397812:D405N|ENSP00000296091:R405K	D|R	+|+	1|2	0|0	ZNF502|ZNF502	44738527|44738527	0.180000|0.180000	0.23148|0.23148	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	1.374000|1.374000	0.34283|0.34283	1.227000|1.227000	0.43598|0.43598	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.413	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4		NM_033210		16	30	0	0	0	0.003163	0	16	30		
SLC6A20	54716	broad.mit.edu	37	3	45812892	45812892	+	Nonsense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:45812892G>C	ENST00000358525.4	-	6	867	c.752C>G	c.(751-753)tCa>tGa	p.S251*	SLC6A20_ENST00000456124.2_Nonsense_Mutation_p.S251*|SLC6A20_ENST00000353278.4_Nonsense_Mutation_p.S214*	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	251					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CAGGCCAAGTGAGAAGAAGAT	0.587																																						uc011bai.1		NaN																	0				ovary(2)	2						c.(751-753)TCA>TGA		solute carrier family 6, member 20 isoform 1							140.0	118.0	125.0					3																	45812892		2203	4300	6503	SO:0001587	stop_gained	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45812892G>C	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.752C>G	3.37:g.45812892G>C	ENSP00000346298:p.Ser251*					SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Nonsense_Mutation_p.S214*	p.S251*	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	6	876	-			251			Helical; Name=6; (Potential).		A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Nonsense_Mutation	SNP	ENST00000358525.4	37	c.752C>G	CCDS43077.1	.	.	.	.	.	.	.	.	.	.	G	36	5.744075	0.96873	.	.	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124;ENST00000413781	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.4034	0.90525	0.0:0.0:1.0:0.0	.	.	.	.	X	214;251;251;204	.	ENSP00000296133:S214X	S	-	2	0	SLC6A20	45787896	1.000000	0.71417	0.988000	0.46212	0.962000	0.63368	9.824000	0.99380	2.342000	0.79632	0.467000	0.42956	TCA		0.587	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3		NM_020208		11	30	0	0	0	0.008291	0	11	30		
CSPG5	10675	broad.mit.edu	37	3	47604194	47604194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:47604194C>A	ENST00000383738.2	-	5	3695	c.1597G>T	c.(1597-1599)Gag>Tag	p.E533*	CSPG5_ENST00000456150.1_Nonsense_Mutation_p.E368*|CSPG5_ENST00000264723.4_Nonsense_Mutation_p.E506*|RN7SL870P_ENST00000460111.2_RNA	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	533					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AATGACTCCTCCTCTTTCAGG	0.488																																						uc003crp.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1597-1599)GAG>TAG		chondroitin sulfate proteoglycan 5 (neuroglycan							131.0	126.0	128.0					3																	47604194		2203	4300	6503	SO:0001587	stop_gained	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47604194C>A	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1597G>T	3.37:g.47604194C>A	ENSP00000373244:p.Glu533*					CSPG5_uc003crm.2_RNA|CSPG5_uc003crn.2_Nonsense_Mutation_p.E368*|CSPG5_uc003cro.3_Nonsense_Mutation_p.E506*|CSPG5_uc011bbb.1_Nonsense_Mutation_p.E395*	p.E533*	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	1773	-			533			Cytoplasmic (Potential).		Q71M39|Q71M40	Nonsense_Mutation	SNP	ENST00000383738.2	37	c.1597G>T	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	C	52	19.968390	0.99925	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	.	.	.	4.86	4.86	0.63082	.	0.063189	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.5683	16.7198	0.85407	0.0:1.0:0.0:0.0	.	.	.	.	X	368;533;506	.	ENSP00000264723:E506X	E	-	1	0	CSPG5	47579198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.492000	0.73654	2.515000	0.84797	0.557000	0.71058	GAG		0.488	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1		NM_006574		19	78	1	0	3.32936e-07	0.006122	3.71887e-07	19	78		
SEMA3F	6405	broad.mit.edu	37	3	50197151	50197151	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:50197151C>T	ENST00000002829.3	+	2	580	c.96C>T	c.(94-96)gtC>gtT	p.V32V	SEMA3F_ENST00000413852.1_5'UTR|SEMA3F_ENST00000434342.1_Silent_p.V32V	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	32	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGCCCCGGGTCCGGCTCTCAT	0.587																																						uc003cyj.2		NaN																	0				lung(1)|skin(1)	2						c.(94-96)GTC>GTT		semaphorin 3F precursor							39.0	43.0	42.0					3																	50197151		2203	4300	6503	SO:0001819	synonymous_variant	6405				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity	g.chr3:50197151C>T	U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.96C>T	3.37:g.50197151C>T						SEMA3F_uc003cyk.2_Silent_p.V32V	p.V32V	NM_004186	NP_004177	Q13275	SEM3F_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)	2	294	+			32			Sema.		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	ENST00000002829.3	37	c.96C>T	CCDS2811.1																																																																																				0.587	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1		NM_004186		5	22	0	0	0	0.000602	0	5	22		
SEMA3B	7869	broad.mit.edu	37	3	50311844	50311844	+	RNA	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:50311844C>A	ENST00000418948.1	+	0	1422							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACTTCCCAGACGATGTCATCC	0.572											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003cyu.2		NaN																	0				lung(2)|central_nervous_system(2)|kidney(1)|skin(1)	6						c.(1186-1188)GAC>GAA		semaphorin 3B isoform 1 precursor							115.0	117.0	116.0					3																	50311844		1956	4145	6101			7869				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity	g.chr3:50311844C>A	U28369	CCDS74941.1	3p21.3	2013-01-11			ENSG00000012171	ENSG00000012171		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10724	protein-coding gene	gene with protein product		601281		SEMAA		7748561, 8633026	Standard	NM_004636		Approved	SemA, semaV, LUCA-1, sema5	uc003cyu.3	Q13214	OTTHUMG00000156970		3.37:g.50311844C>A			OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	968	SEMA3B_uc003cyt.2_Missense_Mutation_p.D395E|SEMA3B_uc003cyv.2_Missense_Mutation_p.D283E|SEMA3B_uc003cyw.2_Missense_Mutation_p.D119E|SEMA3B_uc010hli.2_Missense_Mutation_p.D288E|SEMA3B_uc003cyx.2_Missense_Mutation_p.D282E|SEMA3B_uc003cyy.2_Missense_Mutation_p.D53E|SEMA3B_uc011bdo.1_Missense_Mutation_p.D53E	p.D396E	NM_004636	NP_004627	Q13214	SEM3B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	13	1430	+			396			Sema.		Q6GU46|Q8TB71|Q8TDV7|Q93018|Q96GX0	Missense_Mutation	SNP	ENST00000418948.1	37	c.1188C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.745|9.745	1.165975|1.165975	0.21538|0.21538	.|.	.|.	ENSG00000012171|ENSG00000012171	ENST00000316347|ENST00000414456	.|.	.|.	.|.	4.61|4.61	-4.34|-4.34	0.03666|0.03666	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54481|0.54481	0.1861|0.1861	.|.	.|.	.|.	.|.	.|.	.|.	D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.999|.	D;D;D;D|.	0.91635|.	0.989;0.991;0.989;0.999|.	T|T	0.65940|0.65940	-0.6046|-0.6046	7|4	0.72032|0.87932	D|D	0.01|0	.|.	11.2661|11.2661	0.49112|0.49112	0.0:0.3854:0.0:0.6146|0.0:0.3854:0.0:0.6146	.|.	395;145;395;396|.	Q13214-2;Q59FY7;F5H2H7;Q13214|.	.;.;.;SEM3B_HUMAN|.	E|K	395|395	.|.	ENSP00000446262:D395E|ENSP00000437494:T395K	D|T	+|+	3|2	2|0	SEMA3B|SEMA3B	50286848|50286848	0.001000|0.001000	0.12720|0.12720	0.329000|0.329000	0.25429|0.25429	0.127000|0.127000	0.20565|0.20565	-1.608000|-1.608000	0.02068|0.02068	-0.615000|-0.615000	0.05679|0.05679	-2.173000|-2.173000	0.00322|0.00322	GAC|ACG		0.572	SEMA3B-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000346890.2		NM_001005914		21	76	1	0	1.9806e-07	0.014323	2.23095e-07	21	76		
DNAH1	25981	broad.mit.edu	37	3	52400859	52400859	+	Silent	SNP	G	G	T	rs200419197		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:52400859G>T	ENST00000420323.2	+	36	5982	c.5721G>T	c.(5719-5721)acG>acT	p.T1907T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1907	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTCCATCACGATGGGCCAGC	0.607																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(5719-5721)ACG>ACT		dynein, axonemal, heavy chain 1		G		0,4246		0,0,2123	118.0	125.0	123.0		5721	-8.6	0.7	3		123	1,8461		0,1,4230	no	coding-synonymous	DNAH1	NM_015512.4		0,1,6353	TT,TG,GG		0.0118,0.0,0.0079		1907/4266	52400859	1,12707	2123	4231	6354	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52400859G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5721G>T	3.37:g.52400859G>T							p.T1907T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	36	5982	+			1907			AAA 2 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.5721G>T	CCDS46842.1																																																																																				0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		9	59	1	0	5.16669e-11	0.010729	6.02279e-11	9	59		
ARL13B	200894	broad.mit.edu	37	3	93699277	93699277	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:93699277C>G	ENST00000394222.3	+	1	285	c.10C>G	c.(10-12)Ctg>Gtg	p.L4V	ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.L4V|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000303097.7_Missense_Mutation_p.L4V|ARL13B_ENST00000486562.1_3'UTR	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	4					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GATGTTCAGTCTGATGGCCAG	0.692																																						uc003drc.2		NaN																	0					0						c.(10-12)CTG>GTG		ADP-ribosylation factor-like 2-like 1 isoform 1							96.0	86.0	89.0					3																	93699277		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93699277C>G	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.10C>G	3.37:g.93699277C>G	ENSP00000377769:p.Leu4Val					ARL13B_uc010hop.2_5'UTR|ARL13B_uc003drd.2_Missense_Mutation_p.L4V|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.L4V|ARL13B_uc003drg.2_5'UTR	p.L4V	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			1	296	+			4					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.10C>G	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416145	0.62511	.	.	ENSG00000169379	ENST00000303097;ENST00000394222;ENST00000471138	T;T;T	0.75260	-0.92;-0.29;-0.29	5.07	4.13	0.48395	.	0.000000	0.64402	D	0.000002	T	0.80121	0.4565	M	0.84846	2.72	0.80722	D	1	B;P	0.38922	0.154;0.651	B;P	0.45639	0.048;0.488	T	0.82900	-0.0228	10	0.87932	D	0	-16.5231	10.955	0.47351	0.0:0.811:0.189:0.0	.	4;4	Q3SXY8-2;Q3SXY8	.;AR13B_HUMAN	V	4	ENSP00000306225:L4V;ENSP00000377769:L4V;ENSP00000420780:L4V	ENSP00000306225:L4V	L	+	1	2	ARL13B	95181967	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.483000	0.35497	2.792000	0.96026	0.655000	0.94253	CTG		0.692	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1		NM_182896		13	74	0	0	0	0.004007	0	13	74		
PARP14	54625	broad.mit.edu	37	3	122420202	122420202	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:122420202T>G	ENST00000474629.2	+	6	3067	c.2801T>G	c.(2800-2802)gTg>gGg	p.V934G		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	934	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GGCCGATGCGTGGAGACCATT	0.448																																						uc003efq.3		NaN																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(2800-2802)GTG>GGG		poly (ADP-ribose) polymerase family, member 14							99.0	98.0	98.0					3																	122420202		1975	4145	6120	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122420202T>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2801T>G	3.37:g.122420202T>G	ENSP00000418194:p.Val934Gly					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.V651G|PARP14_uc003efs.1_Missense_Mutation_p.V651G	p.V934G	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	2860	+			934			Macro 1.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.2801T>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	T	13.22	2.172368	0.38315	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.22945	1.93	5.52	0.566	0.17317	Appr-1-p processing (3);	0.830851	0.10555	N	0.660962	T	0.46964	0.1420	M	0.73319	2.225	0.54753	D	0.999989	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	T	0.45175	-0.9279	10	0.72032	D	0.01	.	9.262	0.37619	0.0:0.362:0.0:0.638	.	934;934	Q460N5-4;Q460N5	.;PAR14_HUMAN	G	934;853	ENSP00000418194:V934G	ENSP00000381228:V853G	V	+	2	0	PARP14	123902892	0.005000	0.15991	0.135000	0.22099	0.171000	0.22731	0.240000	0.18042	0.186000	0.20125	0.528000	0.53228	GTG		0.448	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554		8	51	0	0	0	0.004482	0	8	51		
HSPBAP1	79663	broad.mit.edu	37	3	122459597	122459597	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:122459597C>A	ENST00000306103.2	-	8	1205	c.1062G>T	c.(1060-1062)atG>atT	p.M354I	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	354						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CTTCCTTTTTCATGTGCTCTC	0.458																																						uc003efu.1		NaN																	0				ovary(1)|lung(1)	2						c.(1060-1062)ATG>ATT		Hspb associated protein 1							208.0	195.0	199.0					3																	122459597		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459597C>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1062G>T	3.37:g.122459597C>A	ENSP00000302562:p.Met354Ile					HSPBAP1_uc003eft.1_Missense_Mutation_p.M65I	p.M354I	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1185	-			354					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.1062G>T	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	C	6.264	0.416853	0.11870	.	.	ENSG00000169087	ENST00000306103	T	0.28895	1.59	5.27	-2.52	0.06346	.	7.780500	0.00166	N	0.000000	T	0.20210	0.0486	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.12293	-1.0553	10	0.28530	T	0.3	.	5.9253	0.19108	0.0:0.3596:0.3571:0.2833	.	354	Q96EW2	HBAP1_HUMAN	I	354	ENSP00000302562:M354I	ENSP00000302562:M354I	M	-	3	0	HSPBAP1	123942287	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.105000	0.10907	-0.759000	0.04684	-0.878000	0.02970	ATG		0.458	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1		NM_024610		17	236	1	0	1.33834e-09	0.007413	1.54661e-09	17	236		
MYLK	4638	broad.mit.edu	37	3	123451827	123451827	+	Missense_Mutation	SNP	G	G	C	rs200059795		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:123451827G>C	ENST00000475616.1	-	8	1431	c.1432C>G	c.(1432-1434)Cgg>Ggg	p.R478G	MYLK_ENST00000360304.3_Missense_Mutation_p.R478G|MYLK_ENST00000359169.1_Missense_Mutation_p.R478G|MYLK_ENST00000360772.3_Missense_Mutation_p.R478G|MYLK_ENST00000346322.5_Intron			Q15746	MYLK_HUMAN	myosin light chain kinase	478	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCCCTGGTCCGGGCTTTCAGC	0.577																																						uc003ego.2		NaN																	0				ovary(6)|skin(2)|stomach(1)	9						c.(1432-1434)CGG>GGG		myosin light chain kinase isoform 1							84.0	71.0	75.0					3																	123451827		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123451827G>C	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1432C>G	3.37:g.123451827G>C	ENSP00000418335:p.Arg478Gly					MYLK_uc011bjw.1_Missense_Mutation_p.R478G|MYLK_uc003egp.2_Intron|MYLK_uc003egq.2_Missense_Mutation_p.R478G|MYLK_uc003egr.2_Intron|MYLK_uc003egs.2_Missense_Mutation_p.R302G	p.R478G	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1714	-		Lung NSC(201;0.0496)	478			Ig-like C2-type 3.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1432C>G	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	6.618	0.482523	0.12581	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.29	3.49	0.39957	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50171	0.1600	L	0.31294	0.92	0.39028	D	0.95988	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.15052	0.008;0.005;0.012	T	0.37911	-0.9685	9	0.15066	T	0.55	.	10.1995	0.43075	0.0758:0.1368:0.7874:0.0	.	478;478;478	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	G	478	ENSP00000354004:R478G;ENSP00000353452:R478G;ENSP00000352088:R478G;ENSP00000418335:R478G	ENSP00000352088:R478G	R	-	1	2	MYLK	124934517	0.985000	0.35326	0.149000	0.22428	0.890000	0.51754	3.213000	0.51153	0.795000	0.33922	0.655000	0.94253	CGG		0.577	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025		6	44	0	0	0	0.001984	0	6	44		
ROPN1	54763	broad.mit.edu	37	3	123688915	123688915	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:123688915C>A	ENST00000184183.4	-	6	886	c.546G>T	c.(544-546)agG>agT	p.R182S	ROPN1_ENST00000405845.3_Missense_Mutation_p.R182S	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	182						cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		AGTTTAGCATCCTGCTGACAT	0.453																																						uc003eha.2		NaN																	0				ovary(1)|skin(1)	2						c.(544-546)AGG>AGT		ropporin							160.0	141.0	147.0					3																	123688915		2203	4300	6503	SO:0001583	missense	54763				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr3:123688915C>A	AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.546G>T	3.37:g.123688915C>A	ENSP00000184183:p.Arg182Ser						p.R182S	NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN		GBM - Glioblastoma multiforme(114;0.148)	6	887	-			182					D3DN99|Q9UF38	Missense_Mutation	SNP	ENST00000184183.4	37	c.546G>T	CCDS3026.1	.	.	.	.	.	.	.	.	.	.	C	8.380	0.837255	0.16891	.	.	ENSG00000065371	ENST00000184183;ENST00000405845	T;T	0.18174	2.23;2.23	4.84	-0.61	0.11604	.	0.167634	0.36740	N	0.002435	T	0.11110	0.0271	N	0.04090	-0.28	0.80722	D	1	D	0.57899	0.981	D	0.69142	0.962	T	0.39761	-0.9598	10	0.07325	T	0.83	-14.65	4.3907	0.11339	0.0:0.3028:0.1671:0.5301	.	182	Q9HAT0	ROP1A_HUMAN	S	182	ENSP00000184183:R182S;ENSP00000385919:R182S	ENSP00000184183:R182S	R	-	3	2	ROPN1	125171605	0.995000	0.38212	0.999000	0.59377	0.955000	0.61496	-0.018000	0.12568	0.029000	0.15352	-0.367000	0.07326	AGG		0.453	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356188.2		NM_017578		10	98	1	0	1.76689e-08	0.006214	2.02436e-08	10	98		
KALRN	8997	broad.mit.edu	37	3	124209673	124209673	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:124209673G>A	ENST00000240874.3	+	30	4680	c.4523G>A	c.(4522-4524)aGc>aAc	p.S1508N	KALRN_ENST00000360013.3_Missense_Mutation_p.S1508N|KALRN_ENST00000460856.1_Missense_Mutation_p.S1499N	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1508	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGGTTTTTAGCAAGGAGATC	0.498																																						uc003ehg.2		NaN																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4522-4524)AGC>AAC		kalirin, RhoGEF kinase isoform 1							66.0	72.0	70.0					3																	124209673		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124209673G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4523G>A	3.37:g.124209673G>A	ENSP00000240874:p.Ser1508Asn					KALRN_uc010hrv.1_Missense_Mutation_p.S1499N|KALRN_uc003ehf.1_Missense_Mutation_p.S1508N|KALRN_uc011bjy.1_Missense_Mutation_p.S1499N	p.S1508N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			30	4650	+			1508			PH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4523G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.907878|4.907878	0.92107|0.92107	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.15017	.|2.46;2.46;2.46	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55065|0.55065	0.1897|0.1897	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.998;0.511;0.999	.|D;P;D	.|0.80764	.|0.986;0.525;0.994	T|T	0.64334|0.64334	-0.6432|-0.6432	5|10	.|0.56958	.|D	.|0.05	.|.	19.6361|19.6361	0.95733|0.95733	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1499;1508;1508	.|C9IZQ6;O60229;O60229-2	.|.;KALRN_HUMAN;.	T|N	1477|1499;1508;1508	.|ENSP00000418611:S1499N;ENSP00000240874:S1508N;ENSP00000353109:S1508N	.|ENSP00000240874:S1508N	A|S	+|+	1|2	0|0	KALRN|KALRN	125692363|125692363	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.657000|9.657000	0.98554|0.98554	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GCA|AGC		0.498	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4		NM_003947		26	54	0	0	0	0.003954	0	26	54		
OSBPL11	114885	broad.mit.edu	37	3	125250824	125250824	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:125250824C>T	ENST00000296220.5	-	12	2348	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	687					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATTTCAGATTCTCTCAGCGAG	0.393																																						uc003eic.2		NaN																	0				ovary(3)|breast(1)|kidney(1)	5						c.(2059-2061)GAA>AAA		oxysterol binding protein-like 11							150.0	139.0	143.0					3																	125250824		2203	4300	6503	SO:0001583	missense	114885				lipid transport		lipid binding	g.chr3:125250824C>T	AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.2059G>A	3.37:g.125250824C>T	ENSP00000296220:p.Glu687Lys						p.E687K	NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN			12	2796	-			687					A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	c.2059G>A	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	C	3.387	-0.125192	0.06795	.	.	ENSG00000144909	ENST00000296220	T	0.29655	1.56	4.71	3.82	0.43975	.	0.679017	0.14924	N	0.290509	T	0.17023	0.0409	N	0.12831	0.26	0.43588	D	0.995935	B	0.24317	0.101	B	0.25506	0.061	T	0.03221	-1.1059	10	0.06236	T	0.91	-2.0873	14.4159	0.67151	0.1487:0.8513:0.0:0.0	.	687	Q9BXB4	OSB11_HUMAN	K	687	ENSP00000296220:E687K	ENSP00000296220:E687K	E	-	1	0	OSBPL11	126733514	1.000000	0.71417	0.991000	0.47740	0.265000	0.26407	1.237000	0.32695	1.302000	0.44855	0.561000	0.74099	GAA		0.393	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1		NM_022776		16	72	0	0	0	0.00499	0	16	72		
A4GNT	51146	broad.mit.edu	37	3	137843555	137843555	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:137843555T>A	ENST00000236709.3	-	3	775	c.574A>T	c.(574-576)Aat>Tat	p.N192Y		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	192					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AATATTCCATTACTAGAGTAC	0.498																																						uc003ers.2		NaN																	0				central_nervous_system(1)	1						c.(574-576)AAT>TAT		alpha-1,4-N-acetylglucosaminyltransferase							82.0	91.0	88.0					3																	137843555		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843555T>A	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.574A>T	3.37:g.137843555T>A	ENSP00000236709:p.Asn192Tyr						p.N192Y	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	776	-			192			Lumenal (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.574A>T	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.494387	0.44352	.	.	ENSG00000118017	ENST00000236709	D	0.81996	-1.56	5.05	5.05	0.67936	.	0.071789	0.56097	D	0.000025	D	0.93194	0.7832	H	0.94925	3.6	0.44668	D	0.997657	D	0.89917	1.0	D	0.72982	0.979	D	0.94937	0.8088	10	0.72032	D	0.01	-13.4393	14.8036	0.69935	0.0:0.0:0.0:1.0	.	192	Q9UNA3	A4GCT_HUMAN	Y	192	ENSP00000236709:N192Y	ENSP00000236709:N192Y	N	-	1	0	A4GNT	139326245	1.000000	0.71417	0.953000	0.39169	0.012000	0.07955	5.447000	0.66606	1.897000	0.54924	0.460000	0.39030	AAT		0.498	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1		NM_016161		8	89	0	0	0	0.006214	0	8	89		
RARRES1	5918	broad.mit.edu	37	3	158428666	158428666	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:158428666G>C	ENST00000237696.5	-	3	676	c.396C>G	c.(394-396)ttC>ttG	p.F132L	RARRES1_ENST00000479756.1_Missense_Mutation_p.F132L|RARRES1_ENST00000498640.1_Intron	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	132					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	TCTGATTCTTGAAAAACACTC	0.428																																						uc003fci.2		NaN																	0					0						c.(394-396)TTC>TTG		retinoic acid receptor responder (tazarotene	Tretinoin(DB00755)						203.0	186.0	192.0					3																	158428666		2203	4300	6503	SO:0001583	missense	5918				negative regulation of cell proliferation	integral to membrane		g.chr3:158428666G>C	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"""latexin-like"""	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.396C>G	3.37:g.158428666G>C	ENSP00000237696:p.Phe132Leu					RARRES1_uc003fcj.2_Missense_Mutation_p.F132L	p.F132L	NM_206963	NP_996846	P49788	TIG1_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		3	467	-			132			Extracellular (Potential).		Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	37	c.396C>G	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721341	0.89205	.	.	ENSG00000118849	ENST00000237696;ENST00000479756	T;T	0.56275	0.47;0.47	5.7	5.7	0.88788	.	0.109078	0.64402	D	0.000007	T	0.69070	0.3070	M	0.64997	1.995	0.42755	D	0.993786	D;D	0.67145	0.995;0.996	D;D	0.69307	0.937;0.963	T	0.71377	-0.4611	10	0.72032	D	0.01	.	15.3412	0.74300	0.0:0.0:1.0:0.0	.	132;132	P49788-2;P49788	.;TIG1_HUMAN	L	132	ENSP00000237696:F132L;ENSP00000418556:F132L	ENSP00000237696:F132L	F	-	3	2	RARRES1	159911360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.682000	0.61671	2.683000	0.91414	0.655000	0.94253	TTC		0.428	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1				48	123	0	0	0	0.01441	0	48	123		
SEC62	7095	broad.mit.edu	37	3	169710730	169710730	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:169710730G>A	ENST00000337002.4	+	8	1137	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	SEC62_ENST00000480708.1_Missense_Mutation_p.G360E	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	360					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						AGTGGAAATGGAAATGATTTT	0.458																																						uc003fgg.2		NaN																	0				ovary(1)	1						c.(1078-1080)GGA>GAA		translocation protein 1							68.0	64.0	65.0					3																	169710730		2203	4300	6503	SO:0001583	missense	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169710730G>A	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.1079G>A	3.37:g.169710730G>A	ENSP00000337688:p.Gly360Glu					SEC62_uc003fgh.2_Missense_Mutation_p.G360E	p.G360E	NM_003262	NP_003253	Q99442	SEC62_HUMAN			8	1110	+			360			Cytoplasmic (Potential).		D3DNQ0|O00682|O00729	Missense_Mutation	SNP	ENST00000337002.4	37	c.1079G>A	CCDS3210.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800347	0.50315	.	.	ENSG00000008952	ENST00000337002;ENST00000537426;ENST00000544081;ENST00000480708	D;D	0.83250	-1.7;-1.7	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	L	0.34521	1.04	0.80722	D	1	D	0.54047	0.964	P	0.47673	0.554	D	0.84091	0.0390	10	0.87932	D	0	-7.4935	19.9658	0.97266	0.0:0.0:1.0:0.0	.	360	Q99442	SEC62_HUMAN	E	360;84;84;360	ENSP00000337688:G360E;ENSP00000420331:G360E	ENSP00000337688:G360E	G	+	2	0	SEC62	171193424	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	9.168000	0.94781	2.721000	0.93114	0.591000	0.81541	GGA		0.458	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1				4	39	0	0	0	0.009096	0	4	39		
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				15	52	0	0	0	0.004007	0	15	52		
MCF2L2	23101	broad.mit.edu	37	3	183029466	183029466	+	Missense_Mutation	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:183029466T>A	ENST00000328913.3	-	8	1145	c.848A>T	c.(847-849)aAc>aTc	p.N283I	MCF2L2_ENST00000414362.2_Missense_Mutation_p.N283I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.N283I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.N283I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	283							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTCAAGTTGGTTGAGATTGAG	0.438																																						uc003fli.1		NaN																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.(847-849)AAC>ATC		Rho family guanine-nucleotide exchange factor							239.0	197.0	211.0					3																	183029466		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183029466T>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.848A>T	3.37:g.183029466T>A	ENSP00000328118:p.Asn283Ile					MCF2L2_uc003flj.1_Missense_Mutation_p.N283I|MCF2L2_uc003flp.1_Missense_Mutation_p.N318I|MCF2L2_uc011bqs.1_5'Flank	p.N283I	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		8	938	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		283					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.848A>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548023	0.27652	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.4	-0.243	0.13035	.	0.267079	0.40908	D	0.000995	T	0.32133	0.0819	L	0.51422	1.61	0.26109	N	0.9807	P;B;P	0.49961	0.731;0.1;0.93	B;B;B	0.39738	0.308;0.133;0.276	T	0.29761	-1.0001	10	0.87932	D	0	.	9.3796	0.38304	0.0:0.2967:0.0:0.7033	.	283;283;283	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	I	283	ENSP00000328118:N283I;ENSP00000420070:N283I;ENSP00000388190:N283I;ENSP00000414131:N283I	ENSP00000328118:N283I	N	-	2	0	MCF2L2	184512160	1.000000	0.71417	0.186000	0.23195	0.096000	0.18686	2.173000	0.42472	-0.287000	0.09064	0.459000	0.35465	AAC		0.438	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1		NM_015078		35	72	0	0	0	0.012213	0	35	72		
AHSG	197	broad.mit.edu	37	3	186335076	186335076	+	Silent	SNP	C	C	T	rs78152999	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:186335076C>T	ENST00000273784.5	+	4	589	c.513C>T	c.(511-513)gcC>gcT	p.A171A	AHSG_ENST00000411641.2_Silent_p.A170A	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	170	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). {ECO:0000305}.	acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCCTGGCCGCCTTCAACGCTC	0.592											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	4	0.000798722	0.003	0.0	5008	,	,		18182	0.0		0.0	False		,,,				2504	0.0					uc003fqk.3		NaN																	0					0						c.(508-510)GCC>GCT		alpha-2-HS-glycoprotein		C		34,4372	40.0+/-72.8	1,32,2170	74.0	72.0	73.0		510	-0.8	0.7	3	dbSNP_131	73	0,8600		0,0,4300	no	coding-synonymous	AHSG	NM_001622.2		1,32,6470	TT,TC,CC		0.0,0.7717,0.2614		170/368	186335076	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186335076C>T	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.513C>T	3.37:g.186335076C>T			OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2006	AHSG_uc003fqj.2_Silent_p.A170A|AHSG_uc003fql.3_Silent_p.A171A|AHSG_uc003fqm.3_Silent_p.A169A|AHSG_uc010hyp.2_Silent_p.A133A	p.A170A	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	4	591	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		170	PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649).		Cystatin fetuin-A-type 2.		A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37	c.510C>T																																																																																					0.592	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1		NM_001622		10	83	0	0	0	0.006214	0	10	83		
ATP13A5	344905	broad.mit.edu	37	3	193007837	193007837	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr3:193007837G>C	ENST00000342358.4	-	26	2977	c.2860C>G	c.(2860-2862)Cat>Gat	p.H954D	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	954						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGGTAGGCATGAGTTGAACTC	0.383																																						uc011bsq.1		NaN																	0				ovary(5)|skin(4)|large_intestine(2)	11						c.(2860-2862)CAT>GAT		ATPase type 13A5							95.0	95.0	95.0					3																	193007837		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193007837G>C	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2860C>G	3.37:g.193007837G>C	ENSP00000341942:p.His954Asp						p.H954D	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	26	2860	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		954			Helical; (Potential).		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.2860C>G	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	3.717	-0.058418	0.07317	.	.	ENSG00000187527	ENST00000342358	D	0.88124	-2.34	5.61	2.66	0.31614	.	0.611290	0.16796	N	0.199197	T	0.79986	0.4541	L	0.33624	1.015	0.34932	D	0.749412	B	0.02656	0.0	B	0.06405	0.002	T	0.72100	-0.4392	10	0.16896	T	0.51	-2.5774	14.6281	0.68638	0.0:0.4198:0.5802:0.0	.	954	Q4VNC0	AT135_HUMAN	D	954	ENSP00000341942:H954D	ENSP00000341942:H954D	H	-	1	0	ATP13A5	194490531	0.970000	0.33590	0.313000	0.25210	0.995000	0.86356	1.972000	0.40540	0.243000	0.21327	0.650000	0.86243	CAT		0.383	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1		NM_198505		6	64	0	0	0	0.001984	0	6	64		
KDR	3791	broad.mit.edu	37	4	55961065	55961065	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:55961065G>C	ENST00000263923.4	-	21	3170	c.2875C>G	c.(2875-2877)Ctg>Gtg	p.L959V	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	959	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGCCGTTTCAGATCCACAGGG	0.478			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2		NaN		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2875-2877)CTG>GTG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						122.0	111.0	114.0					4																	55961065		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55961065G>C	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2875C>G	4.37:g.55961065G>C	ENSP00000263923:p.Leu959Val	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.L959V	p.L959V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		21	3177	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		959			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2875C>G	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853236	0.32699	.	.	ENSG00000128052	ENST00000263923	T	0.75367	-0.93	5.87	5.03	0.67393	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.521068	0.20084	N	0.099594	T	0.67655	0.2916	L	0.42245	1.32	0.19945	N	0.999949	B	0.22003	0.063	B	0.32724	0.151	T	0.53954	-0.8365	10	0.13470	T	0.59	.	12.0025	0.53240	0.1386:0.0:0.8614:0.0	.	959	P35968	VGFR2_HUMAN	V	959	ENSP00000263923:L959V	ENSP00000263923:L959V	L	-	1	2	KDR	55655822	0.995000	0.38212	0.666000	0.29783	0.613000	0.37349	0.992000	0.29667	1.494000	0.48533	0.655000	0.94253	CTG		0.478	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1				12	61	0	0	0	0.010729	0	12	61		
HTN1	3346	broad.mit.edu	37	4	70920139	70920139	+	Splice_Site	SNP	G	G	A	rs78945345		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:70920139G>A	ENST00000511674.1	+	4	145	c.74G>A	c.(73-75)aGa>aAa	p.R25K	HTN1_ENST00000246896.3_Splice_Site_p.R25K			P15515	HIS1_HUMAN	histatin 1	25					biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						ATTTCATAGAGACATCATGGG	0.289																																						uc003hex.2		NaN																	0				skin(1)	1						c.(73-75)AGA>AAA		histatin 1 precursor							41.0	44.0	43.0					4																	70920139		2176	4267	6443	SO:0001630	splice_region_variant	3346				biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr4:70920139G>A		CCDS3534.1	4q13	2008-02-05			ENSG00000126550	ENSG00000126550			5283	protein-coding gene	gene with protein product		142701					Standard	NM_002159		Approved	HIS1	uc003hex.3	P15515	OTTHUMG00000129397	ENST00000511674.1:c.73-1G>A	4.37:g.70920139G>A							p.R25K	NM_002159	NP_002150	P15515	HIS1_HUMAN			4	141	+			25						Missense_Mutation	SNP	ENST00000511674.1	37	c.74G>A	CCDS3534.1	.	.	.	.	.	.	.	.	.	.	G	7.420	0.636437	0.14386	.	.	ENSG00000126550	ENST00000246896;ENST00000511674	T;T	0.41065	1.01;1.01	1.71	-3.34	0.04943	.	.	.	.	.	T	0.23133	0.0559	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17623	-1.0363	8	0.30854	T	0.27	.	6.1126	0.20110	0.4485:0.0:0.5515:0.0	.	25	P15515	HIS1_HUMAN	K	25	ENSP00000246896:R25K;ENSP00000424501:R25K	ENSP00000246896:R25K	R	+	2	0	HTN1	70954728	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.359000	0.02602	-0.775000	0.04584	-0.752000	0.03492	AGA		0.289	HTN1-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362220.2			Missense_Mutation	6	15	0	0	0	0.001168	0	6	15		
GRIA2	2891	broad.mit.edu	37	4	158283999	158283999	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:158283999A>G	ENST00000264426.9	+	15	2734	c.2455A>G	c.(2455-2457)Atc>Gtc	p.I819V	AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000507898.1_Missense_Mutation_p.I772V|GRIA2_ENST00000393815.2_Missense_Mutation_p.I772V|GRIA2_ENST00000449365.1_Missense_Mutation_p.I772V|GRIA2_ENST00000296526.7_Missense_Mutation_p.I819V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	819					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGTATTCTACATCCTTGTCGG	0.468																																						uc003ipm.3		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(2455-2457)ATC>GTC		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						142.0	130.0	134.0					4																	158283999		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158283999A>G		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2455A>G	4.37:g.158283999A>G	ENSP00000264426:p.Ile819Val					GRIA2_uc011cit.1_Missense_Mutation_p.I772V|GRIA2_uc003ipl.3_Missense_Mutation_p.I819V|GRIA2_uc003ipk.3_Missense_Mutation_p.I772V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	p.I819V	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	15	2914	+	all_hematologic(180;0.24)	Renal(120;0.0458)	819			Helical; (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2455A>G	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.80|15.80	2.940610|2.940610	0.52972|0.52972	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000510854|ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	.|T;T;T;T;T	.|0.55052	.|0.54;0.54;0.54;0.54;0.54	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Ionotropic glutamate receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54549|0.54549	0.1865|0.1865	N|N	0.20445|0.20445	0.575|0.575	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.65815	.|0.995;0.966;0.856	.|D;D;P	.|0.79108	.|0.992;0.976;0.881	T|T	0.48525|0.48525	-0.9028|-0.9028	5|10	.|0.05351	.|T	.|0.99	.|.	16.6512|16.6512	0.85203|0.85203	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|819;819;772	.|P42262;P42262-2;A8MT92	.|GRIA2_HUMAN;.;.	R|V	149|772;772;819;819;772	.|ENSP00000426845:I772V;ENSP00000377403:I772V;ENSP00000296526:I819V;ENSP00000264426:I819V;ENSP00000389837:I772V	.|ENSP00000264426:I819V	H|I	+|+	2|1	0|0	GRIA2|GRIA2	158503449|158503449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	CAT|ATC		0.468	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2				7	51	0	0	0	0.001984	0	7	51		
VEGFC	7424	broad.mit.edu	37	4	177713384	177713384	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:177713384C>G	ENST00000280193.2	-	1	497	c.82G>C	c.(82-84)Gcc>Ccc	p.A28P		NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	28					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		gcggcggcggcggcgggcgcc	0.706																																						uc003ius.1		NaN																	0				lung(5)	5						c.(82-84)GCC>CCC		vascular endothelial growth factor C							8.0	11.0	10.0					4																	177713384		1779	3959	5738	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177713384C>G	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.82G>C	4.37:g.177713384C>G	ENSP00000280193:p.Ala28Pro						p.A28P	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	1	512	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	28					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.82G>C	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	-	16.35	3.098896	0.56183	.	.	ENSG00000150630	ENST00000280193	.	.	.	4.3	1.23	0.21249	.	0.436134	0.19794	N	0.105905	T	0.29684	0.0741	L	0.44542	1.39	0.25390	N	0.98854	B	0.06786	0.001	B	0.01281	0.0	T	0.16100	-1.0414	9	0.36615	T	0.2	-0.0695	6.1901	0.20520	0.0:0.5275:0.3637:0.1088	.	28	P49767	VEGFC_HUMAN	P	28	.	ENSP00000280193:A28P	A	-	1	0	VEGFC	177950378	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.863000	0.27913	0.242000	0.21303	0.305000	0.20034	GCC		0.706	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1		NM_005429		3	14	0	0	0	0.004672	0	3	14		
FAT1	2195	broad.mit.edu	37	4	187524560	187524560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr4:187524560G>T	ENST00000441802.2	-	19	11329	c.11120C>A	c.(11119-11121)tCa>tAa	p.S3707*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3707					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGTTTTGTTGAGATCTGAGC	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11119-11121)TCA>TAA		FAT tumor suppressor 1 precursor							71.0	69.0	69.0					4																	187524560		1906	4135	6041	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524560G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11120C>A	4.37:g.187524560G>T	ENSP00000406229:p.Ser3707*	HNSCC(5;0.00058)					p.S3707*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			19	11308	-			3707			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.11120C>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	51	18.085288	0.99899	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.58	4.58	0.56647	.	0.342750	0.31821	N	0.007017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	17.9159	0.88950	0.0:0.0:1.0:0.0	.	.	.	.	X	3707;3709	.	ENSP00000260147:S3709X	S	-	2	0	FAT1	187761554	0.991000	0.36638	0.006000	0.13384	0.016000	0.09150	5.180000	0.65048	2.538000	0.85594	0.563000	0.77884	TCA		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		10	28	1	0	1.58986e-06	0.008291	1.76115e-06	10	28		
TAS2R1	50834	broad.mit.edu	37	5	9629419	9629419	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:9629419C>A	ENST00000382492.2	-	1	1044	c.726G>T	c.(724-726)atG>atT	p.M242I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	242					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAACTTTTATCATGCAGTGGG	0.478																																						uc003jem.1		NaN																	0				ovary(3)	3						c.(724-726)ATG>ATT		taste receptor T2R1							76.0	82.0	80.0					5																	9629419		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629419C>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.726G>T	5.37:g.9629419C>A	ENSP00000371932:p.Met242Ile						p.M242I	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	1045	-			242			Helical; Name=6; (Potential).		Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.726G>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	C	8.206	0.799148	0.16397	.	.	ENSG00000169777	ENST00000382492	T	0.00662	5.93	5.55	1.49	0.22878	.	0.945466	0.08823	N	0.888467	T	0.00815	0.0027	L	0.41632	1.29	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.47674	-0.9099	9	.	.	.	.	4.0226	0.09672	0.1538:0.4944:0.0:0.3518	.	242	Q9NYW7	TA2R1_HUMAN	I	242	ENSP00000371932:M242I	.	M	-	3	0	TAS2R1	9682419	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.662000	0.05305	0.407000	0.25591	-0.345000	0.07892	ATG		0.478	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2				10	50	1	0	4.68919e-08	0.008291	5.31177e-08	10	50		
TRIO	7204	broad.mit.edu	37	5	14399063	14399063	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:14399063T>G	ENST00000344204.4	+	30	4522	c.4498T>G	c.(4498-4500)Tta>Gta	p.L1500V	TRIO_ENST00000537187.1_Missense_Mutation_p.L1500V|TRIO_ENST00000509967.2_Missense_Mutation_p.L1451V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1500	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCAAAAACCTTAATTCGAAA	0.408																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(4498-4500)TTA>GTA		triple functional domain (PTPRF interacting)							128.0	135.0	132.0					5																	14399063		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14399063T>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4498T>G	5.37:g.14399063T>G	ENSP00000339299:p.Leu1500Val					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.L1451V|TRIO_uc003jfh.1_Missense_Mutation_p.L1149V	p.L1500V	NM_007118	NP_009049	O75962	TRIO_HUMAN			30	4504	+	Lung NSC(4;0.000742)		1500			PH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.4498T>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755426	0.49362	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T;T	0.68903	1.57;1.57;0.24;-0.36	5.39	5.39	0.77823	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.78929	0.4361	M	0.73598	2.24	0.49687	D	0.999811	B;B;P	0.39535	0.364;0.067;0.677	B;B;P	0.59012	0.364;0.18;0.85	T	0.80410	-0.1394	10	0.66056	D	0.02	.	9.7492	0.40466	0.0:0.1227:0.0:0.8773	.	1451;1500;1500	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	V	1500;1500;1451;1187	ENSP00000339299:L1500V;ENSP00000446348:L1500V;ENSP00000445592:L1451V;ENSP00000426342:L1187V	ENSP00000339299:L1500V	L	+	1	2	TRIO	14452063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.973000	0.40550	2.043000	0.60533	0.482000	0.46254	TTA		0.408	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		17	68	0	0	0	0.004007	0	17	68		
CWC27	10283	broad.mit.edu	37	5	64314141	64314141	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:64314141G>C	ENST00000381070.3	+	14	1629	c.1412G>C	c.(1411-1413)aGa>aCa	p.R471T	RP11-307L14.1_ENST00000607786.1_lincRNA|CWC27_ENST00000545000.1_3'UTR|RP11-307L14.2_ENST00000606057.1_lincRNA	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	471					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAAAAGAAAGAAGATAAAAT	0.388																																						uc003jtn.1		NaN																	0					0						c.(1411-1413)AGA>ACA		serologically defined colon cancer antigen 10							45.0	49.0	48.0					5																	64314141		2202	4299	6501	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64314141G>C	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1412G>C	5.37:g.64314141G>C	ENSP00000370460:p.Arg471Thr					CWC27_uc010iwt.1_3'UTR	p.R471T	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			14	1631	+			471					O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.1412G>C	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226692	0.79576	.	.	ENSG00000153015	ENST00000381070	T	0.26067	1.76	6.06	6.06	0.98353	.	0.049724	0.85682	D	0.000000	T	0.31827	0.0809	N	0.24115	0.695	0.80722	D	1	D	0.57257	0.979	P	0.52554	0.702	T	0.00931	-1.1510	10	0.41790	T	0.15	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	471	Q6UX04	CWC27_HUMAN	T	471	ENSP00000370460:R471T	ENSP00000370460:R471T	R	+	2	0	CWC27	64349897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.671000	0.68095	2.871000	0.98454	0.655000	0.94253	AGA		0.388	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4		NM_005869		14	44	0	0	0	0.00245	0	14	44		
OCLN	100506658	broad.mit.edu	37	5	68805240	68805240	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:68805240G>A	ENST00000355237.2	+	3	759	c.323G>A	c.(322-324)gGa>gAa	p.G108E	OCLN_ENST00000380766.2_Missense_Mutation_p.G108E|OCLN_ENST00000396442.2_Missense_Mutation_p.G108E|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	108	Gly/Tyr-rich.|MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCTTATGGAGGAAGTGGCTTT	0.522																																						uc003jwu.2		NaN																	0					0						c.(322-324)GGA>GAA		occludin							149.0	133.0	138.0					5																	68805240		2203	4300	6503	SO:0001583	missense	4950							g.chr5:68805240G>A	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.323G>A	5.37:g.68805240G>A	ENSP00000347379:p.Gly108Glu					OCLN_uc003jwv.3_Missense_Mutation_p.G108E	p.G108E	NM_002538	NP_002529				OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	3	759	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)						B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	ENST00000355237.2	37	c.323G>A	CCDS4006.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549360	0.86127	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	D;D;D	0.87650	-2.28;-2.28;-2.28	5.75	5.75	0.90469	Marvel (1);MARVEL-like domain (1);	0.081106	0.45867	D	0.000325	D	0.92698	0.7679	M	0.79475	2.455	0.80722	D	1	P	0.50272	0.933	P	0.59171	0.853	D	0.92141	0.5720	10	0.48119	T	0.1	-31.1098	18.7066	0.91641	0.0:0.0:1.0:0.0	.	108	Q16625	OCLN_HUMAN	E	108	ENSP00000347379:G108E;ENSP00000379719:G108E;ENSP00000370143:G108E	ENSP00000347379:G108E	G	+	2	0	OCLN	68840996	1.000000	0.71417	0.995000	0.50966	0.833000	0.47200	3.638000	0.54332	2.713000	0.92767	0.563000	0.77884	GGA		0.522	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1		NM_002538		18	96	0	0	0	0.00499	0	18	96		
DMGDH	29958	broad.mit.edu	37	5	78359611	78359611	+	Splice_Site	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:78359611C>G	ENST00000255189.3	-	2	130		c.e2-1		DMGDH_ENST00000540686.1_Splice_Site|DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000380311.4_Splice_Site	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase						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)		TTTTTCCTCTCTGGAAGAGGG	0.448																																						uc003kfs.2		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.e2-1		dimethylglycine dehydrogenase precursor							186.0	161.0	170.0					5																	78359611		2203	4300	6503	SO:0001630	splice_region_variant	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78359611C>G	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.102-1G>C	5.37:g.78359611C>G						DMGDH_uc011ctf.1_Splice_Site|DMGDH_uc011ctg.1_Splice_Site	p.G34_splice	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)	2	108	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)						B2RBN0|B4E1J9	Splice_Site	SNP	ENST00000255189.3	37	c.102_splice	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884965	0.51908	.	.	ENSG00000132837	ENST00000255189	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4737	0.94976	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMGDH	78395367	1.000000	0.71417	0.993000	0.49108	0.472000	0.32918	6.015000	0.70791	2.676000	0.91093	0.561000	0.74099	.		0.448	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3		NM_013391	Intron	13	54	0	0	0	0.001855	0	13	54		
VCAN	1462	broad.mit.edu	37	5	82835422	82835422	+	Silent	SNP	T	T	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:82835422T>A	ENST00000265077.3	+	8	7165	c.6600T>A	c.(6598-6600)acT>acA	p.T2200T	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.T1213T|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2200	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTGAAGCTACTGAAAAGTCAC	0.368																																						uc003kii.3		NaN																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(6598-6600)ACT>ACA		versican isoform 1 precursor							92.0	90.0	91.0					5																	82835422		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835422T>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6600T>A	5.37:g.82835422T>A						VCAN_uc003kij.3_Silent_p.T1213T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T864T	p.T2200T	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6956	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2200			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.6600T>A	CCDS4060.1																																																																																				0.368	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		17	90	0	0	0	0.004007	0	17	90		
LVRN	206338	broad.mit.edu	37	5	115350145	115350145	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:115350145G>A	ENST00000357872.4	+	16	2495	c.2371G>A	c.(2371-2373)Gcg>Acg	p.A791T	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		791						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TTTTGTAACTGCGTGTTGGTT	0.358																																						uc003kro.2		NaN																	0					0						c.(2371-2373)GCG>ACG		laeverin							114.0	110.0	111.0					5																	115350145		2202	4300	6502	SO:0001583	missense	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115350145G>A																												ENST00000357872.4:c.2371G>A	5.37:g.115350145G>A	ENSP00000350541:p.Ala791Thr					AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.A791T	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			16	2535	+			791			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2371G>A	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.776310	0.49786	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.10382	2.88	5.55	4.67	0.58626	.	0.178454	0.37348	N	0.002135	T	0.26702	0.0653	M	0.87971	2.92	0.23991	N	0.99625	D	0.56968	0.978	P	0.51974	0.686	T	0.22138	-1.0225	10	0.87932	D	0	.	10.7051	0.45950	0.0902:0.0:0.9098:0.0	.	791	Q6Q4G3	AMPQ_HUMAN	T	791;780	ENSP00000350541:A791T	ENSP00000350541:A791T	A	+	1	0	AC010282.1	115378044	0.978000	0.34361	0.118000	0.21660	0.454000	0.32378	4.075000	0.57584	2.606000	0.88127	0.591000	0.81541	GCG		0.358	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1				5	55	0	0	0	0.000602	0	5	55		
SEPT8	23176	broad.mit.edu	37	5	132098183	132098183	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:132098183A>T	ENST00000378719.2	-	5	926	c.689T>A	c.(688-690)gTc>gAc	p.V230D	SEPT8_ENST00000378721.4_Missense_Mutation_p.V228D|SEPT8_ENST00000296873.7_Missense_Mutation_p.V230D|SEPT8_ENST00000458488.2_Missense_Mutation_p.V230D|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378699.2_Missense_Mutation_p.V170D|SEPT8_ENST00000378706.1_Missense_Mutation_p.V230D|SEPT8_ENST00000448933.1_Missense_Mutation_p.V170D|SEPT8_ENST00000378701.1_Missense_Mutation_p.V228D	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	230	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACATTCATGACTGCGTTAAT	0.577																																						uc003kxr.2		NaN																	0				ovary(2)	2						c.(688-690)GTC>GAC		septin 8 isoform a							109.0	107.0	107.0					5																	132098183		2059	4239	6298	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132098183A>T	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.689T>A	5.37:g.132098183A>T	ENSP00000367991:p.Val230Asp					SEPT8_uc003kxs.1_Missense_Mutation_p.V230D|SEPT8_uc003kxu.2_Missense_Mutation_p.V230D|SEPT8_uc011cxi.1_Missense_Mutation_p.V228D|SEPT8_uc003kxv.2_Missense_Mutation_p.V228D|SEPT8_uc003kxt.2_Missense_Mutation_p.V170D	p.V230D	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	927	-		all_cancers(142;0.0751)|Breast(839;0.198)	230					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.689T>A	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011763	0.54468	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.98	4.81	0.61882	.	0.191752	0.47093	D	0.000257	T	0.29914	0.0748	N	0.10837	0.055	0.80722	D	1	P;P;B;P	0.45428	0.772;0.772;0.007;0.858	B;B;B;B	0.40982	0.345;0.345;0.043;0.345	T	0.10730	-1.0617	10	0.45353	T	0.12	.	12.1677	0.54139	0.9332:0.0:0.0668:0.0	.	228;228;230;230	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	D	230;228;230;170;230;170;228;230	ENSP00000367991:V230D;ENSP00000367993:V228D;ENSP00000296873:V230D;ENSP00000399840:V170D;ENSP00000367978:V230D;ENSP00000367971:V170D;ENSP00000367973:V228D;ENSP00000394766:V230D	ENSP00000296873:V230D	V	-	2	0	SEPT8	132126082	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	6.746000	0.74866	1.075000	0.40932	0.482000	0.46254	GTC		0.577	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2		XM_034872		8	56	0	0	0	0.006214	0	8	56		
C5orf24	134553	broad.mit.edu	37	5	134191113	134191113	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:134191113G>T	ENST00000394976.3	+	2	751	c.523G>T	c.(523-525)Ggg>Tgg	p.G175W	C5orf24_ENST00000338051.4_Missense_Mutation_p.G175W|C5orf24_ENST00000435259.2_Missense_Mutation_p.G175W|C5orf24_ENST00000504727.1_Intron	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	175										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCAGTTCATGGGGTAGAGGA	0.478																																						uc003kzx.2		NaN																	0					0						c.(523-525)GGG>TGG		hypothetical protein LOC134553							91.0	86.0	87.0					5																	134191113		2203	4300	6503	SO:0001583	missense	134553							g.chr5:134191113G>T	BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.523G>T	5.37:g.134191113G>T	ENSP00000378427:p.Gly175Trp					C5orf24_uc003kzy.3_Intron|C5orf24_uc003kzz.2_Missense_Mutation_p.G175W	p.G175W	NM_152409	NP_689622	Q7Z6I8	CE024_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	584	+			175					D3DQA7|Q86Y53|Q8N1T9	Missense_Mutation	SNP	ENST00000394976.3	37	c.523G>T	CCDS4179.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721040	0.48728	.	.	ENSG00000181904	ENST00000338051;ENST00000394976;ENST00000435259	.	.	.	5.65	5.65	0.86999	.	0.116168	0.38381	N	0.001717	T	0.29914	0.0748	N	0.14661	0.345	0.29723	N	0.838506	D	0.54964	0.969	P	0.47162	0.54	T	0.21999	-1.0229	9	0.87932	D	0	-14.4252	14.5347	0.67953	0.0:0.0:0.8535:0.1465	.	175	Q7Z6I8	CE024_HUMAN	W	175	.	ENSP00000337044:G175W	G	+	1	0	C5orf24	134219012	1.000000	0.71417	0.974000	0.42286	0.974000	0.67602	4.943000	0.63554	2.671000	0.90904	0.655000	0.94253	GGG		0.478	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251167.1		NM_152409		14	49	1	0	4.36969e-10	0.001855	5.07897e-10	14	49		
AFAP1L1	134265	broad.mit.edu	37	5	148695811	148695811	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:148695811G>C	ENST00000296721.4	+	11	1310	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.K404N	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	404						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGAAGAAGACACTGGCCG	0.612																																						uc003lqh.2		NaN																	0				breast(1)|pancreas(1)	2						c.(1210-1212)AAG>AAC		actin filament associated protein 1-like 1							62.0	64.0	63.0					5																	148695811		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148695811G>C	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1212G>C	5.37:g.148695811G>C	ENSP00000296721:p.Lys404Asn					AFAP1L1_uc010jgy.2_Missense_Mutation_p.K404N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.K19N	p.K404N	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1343	+			404					Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.1212G>C	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116537	0.56505	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	D;D	0.91686	-2.89;-2.89	5.58	4.7	0.59300	.	0.093907	0.64402	D	0.000001	D	0.95233	0.8454	M	0.74881	2.28	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	D	0.95256	0.8364	10	0.87932	D	0	-36.6371	11.4141	0.49941	0.1452:0.0:0.8548:0.0	.	404;404	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	N	404	ENSP00000296721:K404N;ENSP00000424427:K404N	ENSP00000296721:K404N	K	+	3	2	AFAP1L1	148676004	0.992000	0.36948	0.877000	0.34402	0.548000	0.35241	2.101000	0.41787	1.346000	0.45694	0.561000	0.74099	AAG		0.612	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1		NM_152406		5	68	0	0	0	0.001984	0	5	68		
CSF1R	1436	broad.mit.edu	37	5	149433917	149433917	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:149433917G>C	ENST00000286301.3	-	21	3022	c.2731C>G	c.(2731-2733)Cag>Gag	p.Q911E		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	911					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GCCTGCTCCTGAAGGAAGGAG	0.622																																						uc003lrl.2		NaN																	0				haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(2731-2733)CAG>GAG		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						68.0	60.0	63.0					5																	149433917		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149433917G>C	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2731C>G	5.37:g.149433917G>C	ENSP00000286301:p.Gln911Glu					CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Q911E	p.Q911E	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		20	2926	-			911			Cytoplasmic (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.2731C>G	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172166	0.38315	.	.	ENSG00000182578	ENST00000286301	T	0.34472	1.36	5.42	5.42	0.78866	.	0.000000	0.51477	D	0.000082	T	0.13970	0.0338	N	0.02708	-0.52	0.80722	D	1	B	0.30914	0.3	B	0.25987	0.065	T	0.17684	-1.0361	10	0.02654	T	1	.	14.1089	0.65109	0.0:0.0:0.8497:0.1503	.	911	P07333	CSF1R_HUMAN	E	911	ENSP00000286301:Q911E	ENSP00000286301:Q911E	Q	-	1	0	CSF1R	149414110	1.000000	0.71417	0.965000	0.40720	0.830000	0.47004	4.910000	0.63321	2.543000	0.85770	0.563000	0.77884	CAG		0.622	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2		NM_005211		19	35	0	0	0	0.008871	0	19	35		
FAT2	2196	broad.mit.edu	37	5	150901299	150901299	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:150901299C>A	ENST00000261800.5	-	18	10867	c.10855G>T	c.(10855-10857)Gtg>Ttg	p.V3619L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3619	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATGCCACACGTACACATGG	0.627																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(10855-10857)GTG>TTG		FAT tumor suppressor 2 precursor							47.0	36.0	40.0					5																	150901299		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901299C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10855G>T	5.37:g.150901299C>A	ENSP00000261800:p.Val3619Leu					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V312L	p.V3619L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10868	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3619			Cadherin 32.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10855G>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.230771|4.230771	0.79688|0.79688	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.57107	.|0.42	5.95|5.95	5.95|5.95	0.96441|0.96441	.|Cadherin (3);Cadherin-like (1);	.|0.000000	.|0.56097	.|D	.|0.000035	T|T	0.68540|0.68540	0.3012|0.3012	M|M	0.86502|0.86502	2.82|2.82	0.54753|0.54753	D|D	0.999982|0.999982	.|D;D	.|0.63880	.|0.987;0.993	.|P;P	.|0.55615	.|0.78;0.653	T|T	0.71909|0.71909	-0.4450|-0.4450	5|10	.|0.48119	.|T	.|0.1	.|.	10.6917|10.6917	0.45875|0.45875	0.0:0.8589:0.0:0.1411|0.0:0.8589:0.0:0.1411	.|.	.|3619;810	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	L|L	477|3619	.|ENSP00000261800:V3619L	.|ENSP00000261800:V3619L	R|V	-|-	2|1	0|0	FAT2|FAT2	150881492|150881492	0.954000|0.954000	0.32549|0.32549	0.982000|0.982000	0.44146|0.44146	0.639000|0.639000	0.38242|0.38242	2.144000|2.144000	0.42197|0.42197	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.627	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		5	28	1	0	0.000602214	0.000602	0.000635495	5	28		
RPL26L1	51121	broad.mit.edu	37	5	172396492	172396492	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:172396492G>C	ENST00000521476.1	+	4	510	c.386G>C	c.(385-387)gGa>gCa	p.G129A	RPL26L1_ENST00000519974.1_Missense_Mutation_p.G129A|RPL26L1_ENST00000519239.1_Missense_Mutation_p.G129A|RPL26L1_ENST00000265100.2_Missense_Mutation_p.G129A			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	129					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)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGACAAGTTGGAAAAGAGAAA	0.408																																						uc003mcc.2		NaN																	0					0						c.(385-387)GGA>GCA		ribosomal protein L26-like 1							115.0	124.0	121.0					5																	172396492		2203	4300	6503	SO:0001583	missense	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172396492G>C	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.386G>C	5.37:g.172396492G>C	ENSP00000428223:p.Gly129Ala						p.G129A	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	428	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	129					B3KY82|D3DQM0	Missense_Mutation	SNP	ENST00000521476.1	37	c.386G>C	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590326	0.46214	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239	.	.	.	4.58	4.58	0.56647	.	0.174314	0.49916	D	0.000126	T	0.54565	0.1866	L	0.41492	1.28	0.58432	D	0.999993	B	0.09022	0.002	B	0.10450	0.005	T	0.49588	-0.8924	9	0.25106	T	0.35	.	17.9134	0.88942	0.0:0.0:1.0:0.0	.	129	Q9UNX3	RL26L_HUMAN	A	129	.	ENSP00000265100:G129A	G	+	2	0	RPL26L1	172329098	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.005000	0.63972	2.522000	0.85027	0.650000	0.86243	GGA		0.408	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1		NM_016093		5	95	0	0	0	0.000602	0	5	95		
TRIM41	90933	broad.mit.edu	37	5	180661586	180661586	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr5:180661586G>A	ENST00000315073.5	+	6	2414	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	568	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAACAGACGCTGCTGAGCC	0.632																																						uc003mne.1		NaN																	0					0						c.(1702-1704)ACG>ACA		tripartite motif-containing 41 isoform 1							99.0	104.0	102.0					5																	180661586		2203	4300	6503	SO:0001819	synonymous_variant	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180661586G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.1704G>A	5.37:g.180661586G>A						TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Intron|TRIM41_uc003mnf.1_Intron|TRIM41_uc003mng.1_Silent_p.T148T	p.T568T	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	2398	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	568			B30.2/SPRY.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	c.1704G>A	CCDS4466.1																																																																																				0.632	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3		NM_201627		5	58	0	0	0	0.000602	0	5	58		
PRL	5617	broad.mit.edu	37	6	22294754	22294754	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:22294754G>C	ENST00000306482.1	-	2	606	c.88C>G	c.(88-90)Ccc>Gcc	p.P30A	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	30					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGACAGATGGGCAAGGGGGCC	0.592																																						uc003ndp.2		NaN																	0					0						c.(88-90)CCC>GCC		prolactin precursor							39.0	38.0	38.0					6																	22294754		2203	4300	6503	SO:0001583	missense	5617				cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	g.chr6:22294754G>C	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.88C>G	6.37:g.22294754G>C	ENSP00000302150:p.Pro30Ala					PRL_uc003ndo.2_Missense_Mutation_p.P31A|PRL_uc003ndq.2_Missense_Mutation_p.P30A|PRL_uc003ndr.1_RNA	p.P30A	NM_000948	NP_000939	P01236	PRL_HUMAN			2	607	-	Ovarian(93;0.163)		30					Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	37	c.88C>G	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269464	0.40095	.	.	ENSG00000172179	ENST00000306482	D	0.90676	-2.71	5.85	4.07	0.47477	Four-helical cytokine-like, core (1);	0.198287	0.43747	D	0.000521	D	0.94069	0.8099	M	0.86268	2.805	0.44843	D	0.997857	P;D	0.71674	0.954;0.998	D;D	0.91635	0.95;0.999	D	0.94489	0.7700	10	0.87932	D	0	-21.2073	12.1627	0.54113	0.1372:0.0:0.8628:0.0	.	30;31	P01236;Q5I0G2	PRL_HUMAN;.	A	30	ENSP00000302150:P30A	ENSP00000302150:P30A	P	-	1	0	PRL	22402733	1.000000	0.71417	0.041000	0.18516	0.042000	0.13812	2.562000	0.45914	0.820000	0.34516	0.563000	0.77884	CCC		0.592	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1		NM_000948		4	30	0	0	0	0.009096	0	4	30		
C6orf10	10665	broad.mit.edu	37	6	32261017	32261017	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:32261017G>A	ENST00000447241.2	-	23	1605	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L	C6orf10_ENST00000527965.1_Missense_Mutation_p.S462L|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375015.4_Missense_Mutation_p.S477L|C6orf10_ENST00000375007.4_Missense_Mutation_p.S476L|C6orf10_ENST00000533191.1_Missense_Mutation_p.S476L	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	478	Lys-rich.					integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TAGTACACCTGACTCACTCTT	0.418																																						uc011dpy.1		NaN																	0				skin(1)	1						c.(1432-1434)TCA>TTA		chromosome 6 open reading frame 10							263.0	294.0	283.0					6																	32261017		1511	2709	4220	SO:0001583	missense	10665					integral to membrane		g.chr6:32261017G>A	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1433C>T	6.37:g.32261017G>A	ENSP00000415517:p.Ser478Leu					C6orf10_uc011dpx.1_Intron	p.S478L	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1606	-			478			Lys-rich.		A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1433C>T	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.394249	0.25205	.	.	ENSG00000204296	ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T	0.03951	3.76;3.76;3.75;3.76;3.75	3.64	-2.23	0.06930	.	.	.	.	.	T	0.01254	0.0041	L	0.53249	1.67	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47249	-0.9132	9	0.38643	T	0.18	2.4097	0.5069	0.00589	0.365:0.1603:0.2844:0.1904	.	478	Q5SRN2	CF010_HUMAN	L	478;477;476;462;476;475;475	ENSP00000415517:S478L;ENSP00000364155:S477L;ENSP00000431199:S476L;ENSP00000435103:S462L;ENSP00000364146:S476L	ENSP00000303292:S475L	S	-	2	0	C6orf10	32368995	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.198000	0.09505	-0.344000	0.08338	-2.471000	0.00202	TCA		0.418	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4		NM_006781		18	179	0	0	0	0.00499	0	18	179		
DAXX	1616	broad.mit.edu	37	6	33288742	33288742	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:33288742G>A	ENST00000374542.5	-	3	1014	c.810C>T	c.(808-810)cgC>cgT	p.R270R	DAXX_ENST00000414083.2_Silent_p.R195R|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Silent_p.R270R	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	270	Interaction with histone H3.3.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCCGCTCAATGCGCCTGTTAA	0.597			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.2		NaN		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		0				pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(808-810)CGC>CGT		death-domain associated protein isoform a							87.0	73.0	78.0					6																	33288742		2203	4300	6503	SO:0001819	synonymous_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33288742G>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.810C>T	6.37:g.33288742G>A						DAXX_uc011drd.1_Silent_p.R195R|DAXX_uc011dre.1_Silent_p.R282R|DAXX_uc003oed.2_Silent_p.R270R|DAXX_uc010juw.2_Silent_p.R195R	p.R270R	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			3	1014	-			270					B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Silent	SNP	ENST00000374542.5	37	c.810C>T	CCDS4776.1																																																																																				0.597	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1				41	59	0	0	0	0.00623	0	41	59		
BRPF3	27154	broad.mit.edu	37	6	36168216	36168216	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:36168216G>A	ENST00000357641.6	+	2	370	c.117G>A	c.(115-117)cgG>cgA	p.R39R	BRPF3_ENST00000534694.1_Silent_p.R39R|BRPF3_ENST00000339717.7_Silent_p.R39R|BRPF3_ENST00000534400.1_Silent_p.R39R|BRPF3_ENST00000443324.2_Silent_p.R39R|BRPF3_ENST00000543502.1_Silent_p.R39R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	39					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AGGCCCAGCGGATTGTCGAGG	0.572																																						uc003olv.3		NaN																	0				ovary(1)|skin(1)	2						c.(115-117)CGG>CGA		bromodomain and PHD finger containing, 3							86.0	81.0	83.0					6																	36168216		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168216G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.117G>A	6.37:g.36168216G>A						BRPF3_uc010jwb.2_Silent_p.R39R|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.R39R	p.R39R	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			2	341	+			39					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	c.117G>A	CCDS34437.1																																																																																				0.572	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3		NM_015695		4	65	0	0	0	0.009096	0	4	65		
PPP2R5D	5528	broad.mit.edu	37	6	42974675	42974675	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:42974675C>T	ENST00000485511.1	+	4	528	c.349C>T	c.(349-351)Ctg>Ttg	p.L117L	PPP2R5D_ENST00000394110.3_Silent_p.L85L|PPP2R5D_ENST00000461010.1_Silent_p.L11L|PPP2R5D_ENST00000472118.1_Silent_p.L109L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	117					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.L117L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCGGGAGGAGCTGTTTATCCA	0.562																																					Melanoma(63;587 1613 29742 31770)	uc003oth.2		NaN																	1	Substitution - coding silent(1)		breast(1)	breast(1)|central_nervous_system(1)	2						c.(349-351)CTG>TTG		delta isoform of regulatory subunit B56, protein							152.0	153.0	153.0					6																	42974675		2203	4300	6503	SO:0001819	synonymous_variant	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42974675C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.349C>T	6.37:g.42974675C>T						MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Silent_p.L85L|PPP2R5D_uc010jyd.2_Silent_p.L11L|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR	p.L117L	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	435	+			117					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Silent	SNP	ENST00000485511.1	37	c.349C>T	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	C	9.352	1.065809	0.20067	.	.	ENSG00000112640	ENST00000470467	.	.	.	5.18	4.31	0.51392	.	.	.	.	.	T	0.60038	0.2238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61466	-0.7057	4	.	.	.	-12.2241	13.9362	0.64026	0.0:0.9271:0.0:0.0729	.	.	.	.	V	36	.	.	A	+	2	0	PPP2R5D	43082653	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.783000	0.62403	1.416000	0.47057	0.561000	0.74099	GCT		0.562	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3		NM_006245		24	151	0	0	0	0.004656	0	24	151		
SLC35B2	347734	broad.mit.edu	37	6	44224183	44224183	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:44224183G>A	ENST00000393812.3	-	3	399	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000538577.1_Intron|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	86					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAGGCCTTGGGCTCATTGCCA	0.577																																						uc003oxd.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(256-258)CCC>TCC		solute carrier family 35, member B2							56.0	63.0	61.0					6																	44224183		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224183G>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.256C>T	6.37:g.44224183G>A	ENSP00000377401:p.Pro86Ser					SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron	p.P86S	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	392	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		86					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.256C>T	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	g	6.317	0.426635	0.11987	.	.	ENSG00000157593	ENST00000393812;ENST00000341553	T	0.27720	1.65	4.26	4.26	0.50523	.	0.390390	0.28624	N	0.014688	T	0.05456	0.0144	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17501	-1.0367	10	0.02654	T	1	-20.3189	13.0161	0.58757	0.0:0.2146:0.7854:0.0	.	86	Q8TB61	S35B2_HUMAN	S	86	ENSP00000377401:P86S	ENSP00000342455:P86S	P	-	1	0	SLC35B2	44332161	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.049000	0.41288	2.191000	0.70037	0.561000	0.74099	CCC		0.577	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2				11	75	0	0	0	0.008291	0	11	75		
CRISP2	7180	broad.mit.edu	37	6	49666126	49666126	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:49666126G>A	ENST00000339139.4	-	7	602	c.366C>T	c.(364-366)gtC>gtT	p.V122V		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	122	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTACACCATAGACAAAATCTA	0.413																																						uc003ozq.2		NaN																	0				skin(1)	1						c.(364-366)GTC>GTT		cysteine-rich secretory protein 2 precursor							141.0	128.0	132.0					6																	49666126		2203	4300	6503	SO:0001819	synonymous_variant	7180					extracellular space		g.chr6:49666126G>A	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.366C>T	6.37:g.49666126G>A						CRISP2_uc003ozl.2_Silent_p.V122V|CRISP2_uc003ozn.2_Silent_p.V122V|CRISP2_uc003ozr.2_Silent_p.V122V|CRISP2_uc003ozo.2_Silent_p.V122V|CRISP2_uc003ozm.2_Silent_p.V122V|CRISP2_uc003ozp.2_Silent_p.V122V	p.V122V	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	622	-	Lung NSC(77;0.0161)		122					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Silent	SNP	ENST00000339139.4	37	c.366C>T	CCDS4928.1																																																																																				0.413	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2		NM_003296		11	69	0	0	0	0.010729	0	11	69		
TTK	7272	broad.mit.edu	37	6	80746227	80746227	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:80746227C>G	ENST00000369798.2	+	17	2071	c.1960C>G	c.(1960-1962)Ctg>Gtg	p.L654V	TTK_ENST00000230510.3_Missense_Mutation_p.L653V|TTK_ENST00000509894.1_Missense_Mutation_p.L653V	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	654	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGCTAACTTTCTGATAGTTGA	0.318																																						uc003pjc.2		NaN																	0				ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(1960-1962)CTG>GTG		TTK protein kinase							165.0	158.0	161.0					6																	80746227		2202	4300	6502	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80746227C>G		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1960C>G	6.37:g.80746227C>G	ENSP00000358813:p.Leu654Val					TTK_uc003pjb.3_Missense_Mutation_p.L653V	p.L654V	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	17	2034	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	654			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.1960C>G	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756004	0.31137	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.80033	-1.33;-1.33;-1.33	6.08	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.139069	0.49305	N	0.000144	T	0.57651	0.2068	L	0.31664	0.95	0.50039	D	0.999847	B;B	0.28350	0.208;0.1	B;B	0.36186	0.219;0.094	T	0.56685	-0.7938	10	0.35671	T	0.21	.	7.7705	0.29006	0.0:0.7253:0.1345:0.1401	.	654;653	P33981;A8K8U5	TTK_HUMAN;.	V	653;653;654	ENSP00000422936:L653V;ENSP00000230510:L653V;ENSP00000358813:L654V	ENSP00000230510:L653V	L	+	1	2	TTK	80802946	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.678000	0.37586	0.892000	0.36259	0.591000	0.81541	CTG		0.318	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2				5	59	0	0	0	0.000602	0	5	59		
DOPEY1	23033	broad.mit.edu	37	6	83834892	83834892	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:83834892G>C	ENST00000349129.2	+	14	1723	c.1463G>C	c.(1462-1464)aGa>aCa	p.R488T	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R479T|DOPEY1_ENST00000237163.5_Intron	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	488					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAGCCTACTAGAAGTATGAGG	0.289																																						uc003pjs.1		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1462-1464)AGA>ACA		dopey family member 1							82.0	86.0	85.0					6																	83834892		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83834892G>C	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1463G>C	6.37:g.83834892G>C	ENSP00000195654:p.Arg488Thr					DOPEY1_uc011dyy.1_Missense_Mutation_p.R479T|DOPEY1_uc010kbl.1_Missense_Mutation_p.R479T	p.R488T	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	14	1723	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	488					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.1463G>C	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606348	0.66445	.	.	ENSG00000083097	ENST00000349129	T	0.23348	1.91	5.8	5.8	0.92144	.	0.000000	0.53938	D	0.000048	T	0.18045	0.0433	L	0.47716	1.5	0.80722	D	1	B;B	0.17852	0.024;0.024	B;B	0.12156	0.007;0.007	T	0.02173	-1.1201	10	0.87932	D	0	.	20.055	0.97649	0.0:0.0:1.0:0.0	.	479;488	B2RWN9;Q5JWR5	.;DOP1_HUMAN	T	488	ENSP00000195654:R488T	ENSP00000195654:R488T	R	+	2	0	DOPEY1	83891611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.933000	0.75874	2.743000	0.94032	0.455000	0.32223	AGA		0.289	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2		NM_015018		4	34	0	0	0	0.000602	0	4	34		
SIM1	6492	broad.mit.edu	37	6	100838763	100838763	+	Missense_Mutation	SNP	A	A	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:100838763A>T	ENST00000369208.3	-	12	2557	c.1775T>A	c.(1774-1776)cTg>cAg	p.L592Q	SIM1_ENST00000262901.4_Missense_Mutation_p.L592Q			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	592	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AATGGAAGCCAGTTGGTCTGA	0.468																																						uc003pqj.3		NaN																	0				ovary(4)	4						c.(1774-1776)CTG>CAG		single-minded homolog 1							75.0	74.0	75.0					6																	100838763		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838763A>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1775T>A	6.37:g.100838763A>T	ENSP00000358210:p.Leu592Gln					SIM1_uc010kcu.2_Missense_Mutation_p.L592Q	p.L592Q	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1982	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	592			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1775T>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.590068	0.66105	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.46819	0.86;0.86	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.190381	0.46758	D	0.000267	T	0.40886	0.1135	N	0.19112	0.55	0.53688	D	0.999978	D	0.59357	0.985	P	0.58013	0.831	T	0.49542	-0.8929	10	0.72032	D	0.01	.	16.1986	0.82053	1.0:0.0:0.0:0.0	.	592	P81133	SIM1_HUMAN	Q	592	ENSP00000358210:L592Q;ENSP00000262901:L592Q	ENSP00000262901:L592Q	L	-	2	0	SIM1	100945484	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.952000	0.70282	2.227000	0.72691	0.455000	0.32223	CTG		0.468	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3		NM_005068		8	65	0	0	0	0.00308	0	8	65		
TBC1D32	221322	broad.mit.edu	37	6	121562637	121562637	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:121562637G>C	ENST00000398212.2	-	19	2268	c.2219C>G	c.(2218-2220)gCa>gGa	p.A740G	TBC1D32_ENST00000275159.6_Missense_Mutation_p.A740G	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	740					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AATGCCACCTGCTGCTGTTGA	0.338																																						uc003pyo.1		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(2218-2220)GCA>GGA		hypothetical protein LOC221322							109.0	99.0	102.0					6																	121562637		1885	4114	5999	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121562637G>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2219C>G	6.37:g.121562637G>C	ENSP00000381270:p.Ala740Gly					C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.A259G	p.A740G	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	19	2287	-			740					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.2219C>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797890	0.31777	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.20332	2.08;2.08	5.62	3.86	0.44501	.	0.279041	0.41001	D	0.000980	T	0.12603	0.0306	M	0.62723	1.935	0.30968	N	0.722925	P;P	0.44044	0.825;0.731	B;B	0.42771	0.279;0.397	T	0.03148	-1.1067	10	0.40728	T	0.16	.	12.115	0.53860	0.1404:0.0:0.8596:0.0	.	740;740	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	G	740	ENSP00000275159:A740G;ENSP00000381270:A740G	ENSP00000275159:A740G	A	-	2	0	C6orf170	121604336	1.000000	0.71417	0.999000	0.59377	0.335000	0.28730	4.943000	0.63554	0.863000	0.35553	-0.259000	0.10710	GCA		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2		NM_152730		6	27	0	0	0	0.001168	0	6	27		
NKAIN2	154215	broad.mit.edu	37	6	124979332	124979332	+	Splice_Site	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:124979332G>C	ENST00000368417.1	+	4	334	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Splice_Site_p.E77Q|NKAIN2_ENST00000368416.1_Splice_Site_p.E92Q	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	92		Breakpoint for interstitial deletion to form SUSP1-NKAIN2.				integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CTTCTTGCAGGAAACAGACCT	0.428																																						uc003pzo.2		NaN																	0					0						c.(274-276)GAA>CAA		T-cell lymphoma breakpoint-associated target 1							99.0	101.0	100.0					6																	124979332		2203	4300	6503	SO:0001630	splice_region_variant	154215					integral to membrane|plasma membrane		g.chr6:124979332G>C	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.274-1G>C	6.37:g.124979332G>C						NKAIN2_uc003pzn.1_Missense_Mutation_p.E92Q|NKAIN2_uc003pzp.2_Missense_Mutation_p.E91Q|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.E2Q	p.E92Q	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	4	551	+			92				Breakpoint for interstitial deletion to form SUSP1-NKAIN2.	Q8IYR4|Q8TF67	Missense_Mutation	SNP	ENST00000368417.1	37	c.274G>C	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610990	0.66558	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000545433	T;T;T	0.15256	2.44;2.44;2.44	5.91	5.91	0.95273	.	0.214669	0.48286	D	0.000183	T	0.15132	0.0365	L	0.39898	1.24	0.80722	D	1	B;P;B;P	0.45011	0.322;0.718;0.322;0.848	B;B;B;P	0.47430	0.114;0.366;0.114;0.547	T	0.01096	-1.1453	9	.	.	.	-5.723	20.3539	0.98825	0.0:0.0:1.0:0.0	.	77;91;92;92	B3KNZ0;Q5VXU1-3;Q5VXU1;Q5VXU1-2	.;.;NKAI2_HUMAN;.	Q	92;92;77	ENSP00000357401:E92Q;ENSP00000357402:E92Q;ENSP00000437798:E77Q	.	E	+	1	0	NKAIN2	125021031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.572000	0.82409	2.816000	0.96949	0.644000	0.83932	GAA		0.428	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1		NM_001040214	Missense_Mutation	8	38	0	0	0	0.00308	0	8	38		
GRM1	2911	broad.mit.edu	37	6	146755219	146755219	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:146755219G>C	ENST00000282753.1	+	8	3107	c.2872G>C	c.(2872-2874)Gag>Cag	p.E958Q	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.E958Q|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	958					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TTACAACGTAGAGGAGGAGGA	0.582																																						uc010khw.1		NaN																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2872-2874)GAG>CAG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						104.0	106.0	106.0					6																	146755219		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755219G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2872G>C	6.37:g.146755219G>C	ENSP00000282753:p.Glu958Gln					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.E958Q	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3342	+		Ovarian(120;0.0387)	958			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2872G>C	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674534	0.29693	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	T;T	0.70749	-0.51;-0.51	3.75	0.749	0.18381	.	0.380202	0.29178	N	0.012912	T	0.36744	0.0978	L	0.44542	1.39	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.12785	-1.0534	10	0.27785	T	0.31	.	5.4334	0.16466	0.1788:0.0:0.6499:0.1713	.	958	Q13255	GRM1_HUMAN	Q	958	ENSP00000354896:E958Q;ENSP00000282753:E958Q	ENSP00000282753:E958Q	E	+	1	0	GRM1	146796912	1.000000	0.71417	0.805000	0.32314	0.989000	0.77384	3.511000	0.53400	-0.238000	0.09724	0.462000	0.41574	GAG		0.582	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		22	70	0	0	0	0.010504	0	22	70		
TIAM2	26230	broad.mit.edu	37	6	155500249	155500249	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:155500249C>T	ENST00000461783.3	+	13	3873	c.2600C>T	c.(2599-2601)cCt>cTt	p.P867L	TIAM2_ENST00000528391.2_Missense_Mutation_p.P203L|TIAM2_ENST00000360366.4_Missense_Mutation_p.P891L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P867L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P867L|TIAM2_ENST00000367174.2_Missense_Mutation_p.P243L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P867L|TIAM2_ENST00000456877.2_Missense_Mutation_p.P179L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	867	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TATTGCATCCCTGCACCATAT	0.388																																						uc003qqb.2		NaN																	0				ovary(3)|breast(1)	4						c.(2599-2601)CCT>CTT		T-cell lymphoma invasion and metastasis 2							114.0	103.0	107.0					6																	155500249		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500249C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2600C>T	6.37:g.155500249C>T	ENSP00000437188:p.Pro867Leu					TIAM2_uc003qqe.2_Missense_Mutation_p.P867L|TIAM2_uc010kjj.2_Missense_Mutation_p.P400L|TIAM2_uc003qqf.2_Missense_Mutation_p.P243L|TIAM2_uc011efl.1_Missense_Mutation_p.P203L|TIAM2_uc003qqg.2_Missense_Mutation_p.P179L	p.P867L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	13	3873	+		Ovarian(120;0.196)	867			RBD.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.2600C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666565	0.67814	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.18	5.18	0.71444	Raf-like Ras-binding (2);PDZ/DHR/GLGF (1);	0.139194	0.49305	D	0.000149	T	0.39332	0.1074	M	0.66939	2.045	0.58432	D	0.999999	P;B;B;B	0.41475	0.751;0.14;0.14;0.086	B;B;B;B	0.43274	0.414;0.103;0.103;0.048	T	0.46456	-0.9190	10	0.87932	D	0	.	17.2544	0.87051	0.0:1.0:0.0:0.0	.	203;867;891;867	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	L	867;1113;867;867;867;243;891;867;179;203	ENSP00000437188:P867L;ENSP00000434901:P867L;ENSP00000407746:P867L;ENSP00000327315:P867L;ENSP00000356142:P243L;ENSP00000353528:P891L;ENSP00000433348:P867L;ENSP00000407183:P179L;ENSP00000435335:P203L	ENSP00000327315:P867L	P	+	2	0	TIAM2	155541941	0.980000	0.34600	0.112000	0.21494	0.005000	0.04900	4.510000	0.60455	2.576000	0.86940	0.655000	0.94253	CCT		0.388	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2		NM_012454		15	51	0	0	0	0.004007	0	15	51		
TCP1	6950	broad.mit.edu	37	6	160205738	160205738	+	Silent	SNP	G	G	A	rs377216804		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr6:160205738G>A	ENST00000321394.7	-	6	910	c.630C>T	c.(628-630)ctC>ctT	p.L210L	TCP1_ENST00000420894.2_Silent_p.L210L|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_Silent_p.L55L|SNORA29_ENST00000384183.1_RNA	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	210					'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)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGCCACTGATGAGCATACTCT	0.413																																						uc003qsr.2		NaN																	0				breast(1)	1						c.(628-630)CTC>CTT		T-complex protein 1 isoform a							109.0	105.0	107.0					6																	160205738		2203	4300	6503	SO:0001819	synonymous_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160205738G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.630C>T	6.37:g.160205738G>A						TCP1_uc003qss.2_Silent_p.L55L|TCP1_uc010kjz.2_Silent_p.L210L|TCP1_uc003qst.2_Intron	p.L210L	NM_030752	NP_110379	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	6	865	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	210					E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	c.630C>T	CCDS5269.1																																																																																				0.413	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2		NM_030752		10	130	0	0	0	0.006214	0	10	130		
MPP6	51678	broad.mit.edu	37	7	24663374	24663374	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:24663374G>C	ENST00000222644.5	+	2	338	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	MPP6_ENST00000396475.2_Missense_Mutation_p.E30Q|MPP6_ENST00000409761.1_Intron			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GGGAATTATGGAGAATCCTAT	0.343																																						uc003swx.2		NaN																	0					0						c.(88-90)GAG>CAG		membrane protein, palmitoylated 6							64.0	68.0	66.0					7																	24663374		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24663374G>C	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.88G>C	7.37:g.24663374G>C	ENSP00000222644:p.Glu30Gln					MPP6_uc003swy.2_Missense_Mutation_p.E30Q	p.E30Q	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			3	387	+			30			L27 1.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.88G>C	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.614018	0.66672	.	.	ENSG00000105926	ENST00000432190;ENST00000222644;ENST00000396475;ENST00000430180	T;T;T;T	0.14516	2.5;3.52;3.52;2.5	5.47	5.47	0.80525	L27, C-terminal (1);L27 (2);	0.000000	0.53938	D	0.000052	T	0.19485	0.0468	M	0.66939	2.045	0.80722	D	1	B	0.21520	0.057	B	0.32211	0.142	T	0.15350	-1.0440	10	0.02654	T	1	.	19.7165	0.96122	0.0:0.0:1.0:0.0	.	30	Q9NZW5	MPP6_HUMAN	Q	30	ENSP00000395859:E30Q;ENSP00000222644:E30Q;ENSP00000379737:E30Q;ENSP00000391020:E30Q	ENSP00000222644:E30Q	E	+	1	0	MPP6	24629899	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.821000	0.99360	2.731000	0.93534	0.637000	0.83480	GAG		0.343	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4				7	36	0	0	0	0.004482	0	7	36		
ABCA13	154664	broad.mit.edu	37	7	48312668	48312668	+	Silent	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:48312668C>A	ENST00000435803.1	+	17	3429	c.3405C>A	c.(3403-3405)gtC>gtA	p.V1135V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1135					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGCAAATGTCAGTGTGTTCA	0.353																																						uc003toq.2		NaN																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(3403-3405)GTC>GTA		ATP binding cassette, sub-family A (ABC1),							76.0	73.0	74.0					7																	48312668		1836	4089	5925	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312668C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3405C>A	7.37:g.48312668C>A						ABCA13_uc010kyr.2_Silent_p.V638V	p.V1135V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			17	3430	+			1135					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.3405C>A	CCDS47584.1																																																																																				0.353	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		12	27	1	0	1.08611e-07	0.010729	1.22684e-07	12	27		
DTX2	113878	broad.mit.edu	37	7	76126675	76126675	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:76126675C>T	ENST00000324432.5	+	7	1541	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	DTX2_ENST00000446820.2_Intron|DTX2_ENST00000307569.8_Intron|DTX2_ENST00000430490.2_Missense_Mutation_p.S344L|DTX2_ENST00000446600.1_Missense_Mutation_p.S253L|DTX2_ENST00000413936.2_Missense_Mutation_p.S344L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	344					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTTCTGATGTCAGCCATTGGA	0.577																																						uc003uff.3		NaN																	0				ovary(1)|skin(1)	2						c.(1030-1032)TCA>TTA		deltex 2 isoform a							147.0	125.0	132.0					7																	76126675		2202	4297	6499	SO:0001583	missense	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76126675C>T		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1031C>T	7.37:g.76126675C>T	ENSP00000322885:p.Ser344Leu					DTX2_uc011kgk.1_Missense_Mutation_p.S253L|DTX2_uc003ufg.3_Missense_Mutation_p.S344L|DTX2_uc003ufh.3_Missense_Mutation_p.S344L|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.S7L|DTX2_uc003ufm.3_5'Flank	p.S344L	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN			7	1587	+			344					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Missense_Mutation	SNP	ENST00000324432.5	37	c.1031C>T	CCDS5587.1	.	.	.	.	.	.	.	.	.	.	.	18.23	3.577400	0.65878	.	.	ENSG00000091073	ENST00000324432;ENST00000541989;ENST00000446600;ENST00000413936;ENST00000430490	T;T;T;T	0.16597	2.33;2.34;2.33;2.33	5.41	5.41	0.78517	.	0.218004	0.39834	N	0.001253	T	0.27134	0.0665	M	0.65498	2.005	0.80722	D	1	B;B;B	0.30824	0.296;0.155;0.094	B;B;B	0.39152	0.292;0.048;0.071	T	0.02654	-1.1128	10	0.22109	T	0.4	-13.7923	18.1074	0.89525	0.0:1.0:0.0:0.0	.	253;253;344	F5GX89;E7ET89;Q86UW9	.;.;DTX2_HUMAN	L	344;253;253;344;344	ENSP00000322885:S344L;ENSP00000397648:S253L;ENSP00000390218:S344L;ENSP00000411986:S344L	ENSP00000322885:S344L	S	+	2	0	AC005522.1	75964611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.958000	0.40402	2.704000	0.92352	0.655000	0.94253	TCA		0.577	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2				22	138	0	0	0	0.004656	0	22	138		
ZSCAN25	221785	broad.mit.edu	37	7	99226951	99226951	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:99226951G>C	ENST00000394152.2	+	8	1270	c.943G>C	c.(943-945)Ggt>Cgt	p.G315R	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.G315R|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.G243R|ZSCAN25_ENST00000466948.1_Intron	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	315					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)										GCAGGAGCCTGGTGGCCCTGC	0.637																																						uc003url.1		NaN																	0				ovary(2)	2						c.(943-945)GGT>CGT		zinc finger and SCAN domain containing 25							57.0	57.0	57.0					7																	99226951		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99226951G>C	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.943G>C	7.37:g.99226951G>C	ENSP00000377708:p.Gly315Arg					ZNF498_uc003urm.1_Missense_Mutation_p.G151R|ZNF498_uc010lge.1_Missense_Mutation_p.G151R|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.G243R|ZNF498_uc003uro.1_Missense_Mutation_p.G99R	p.G315R	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			8	1270	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		315					A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.943G>C	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	0.148	-1.094678	0.01858	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.08634	3.14;3.14;3.07	4.42	-3.21	0.05140	.	0.792060	0.11020	N	0.608444	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.46386	-0.9195	10	0.07644	T	0.81	-7.5053	12.454	0.55693	0.8327:0.0:0.1673:0.0	.	243;315	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	R	315;315;243	ENSP00000377708:G315R;ENSP00000334800:G315R;ENSP00000262941:G243R	ENSP00000262941:G243R	G	+	1	0	ZNF498	99064887	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	-0.522000	0.06237	-0.720000	0.04935	-0.258000	0.10820	GGT		0.637	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4		NM_145115		9	56	0	0	0	0.006214	0	9	56		
MUC17	140453	broad.mit.edu	37	7	100675897	100675897	+	Silent	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:100675897C>G	ENST00000306151.4	+	3	1264	c.1200C>G	c.(1198-1200)gtC>gtG	p.V400V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	400	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATATGCCTGTCAGCACCATAT	0.463																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1198-1200)GTC>GTG		mucin 17 precursor							194.0	204.0	200.0					7																	100675897		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675897C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1200C>G	7.37:g.100675897C>G						MUC17_uc010lho.1_RNA	p.V400V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1253	+	Lung NSC(181;0.136)|all_lung(186;0.182)		400			Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.1200C>G	CCDS34711.1																																																																																				0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		101	235	0	0	0	0.01441	0	101	235		
MET	4233	broad.mit.edu	37	7	116371801	116371801	+	Missense_Mutation	SNP	T	T	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:116371801T>G	ENST00000318493.6	+	3	1467	c.1280T>G	c.(1279-1281)gTt>gGt	p.V427G	MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Missense_Mutation_p.V427G|MET_ENST00000436117.2_Missense_Mutation_p.V427G			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGCAGCGCGTTGACTTATTC	0.433			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2		NaN		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		0				upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(1279-1281)GTT>GGT		met proto-oncogene isoform b precursor							122.0	114.0	116.0					7																	116371801		1926	4115	6041	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116371801T>G	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1280T>G	7.37:g.116371801T>G	ENSP00000317272:p.Val427Gly					MET_uc010lkh.2_Missense_Mutation_p.V427G|MET_uc011knc.1_Missense_Mutation_p.V427G|MET_uc011knd.1_Missense_Mutation_p.V427G|MET_uc011kne.1_Missense_Mutation_p.V427G|MET_uc011knf.1_Missense_Mutation_p.V427G|MET_uc011kng.1_Missense_Mutation_p.V427G|MET_uc011knh.1_Missense_Mutation_p.V427G|MET_uc011kni.1_Missense_Mutation_p.V427G|MET_uc011knj.1_5'UTR|MET_uc010lkg.2_Missense_Mutation_p.V427G|MET_uc011kna.1_Missense_Mutation_p.V427G|MET_uc011knb.1_Missense_Mutation_p.V427G	p.V427G	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		3	1467	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	427			Extracellular (Potential).|Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1280T>G	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153469	0.38021	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.05649	3.41;3.41;3.41	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.373417	0.26612	N	0.023415	T	0.18593	0.0446	L	0.49256	1.55	0.80722	D	1	P;B;P;P;P;B;P;P;P;P;D	0.55800	0.949;0.445;0.919;0.744;0.744;0.445;0.744;0.744;0.81;0.595;0.973	P;P;P;P;P;P;P;P;P;P;P	0.61328	0.761;0.481;0.887;0.642;0.642;0.642;0.751;0.541;0.533;0.541;0.823	T	0.00126	-1.2021	10	0.87932	D	0	.	15.7616	0.78087	0.0:0.0:0.0:1.0	.	427;427;427;427;427;427;427;427;427;427;427	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;B5A942;P08581	.;.;.;.;.;.;.;.;.;.;MET_HUMAN	G	427	ENSP00000380860:V427G;ENSP00000317272:V427G;ENSP00000410980:V427G	ENSP00000317272:V427G	V	+	2	0	MET	116159037	0.565000	0.26610	0.341000	0.25589	0.145000	0.21501	4.348000	0.59379	2.121000	0.65114	0.533000	0.62120	GTT		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3				5	42	0	0	0	0.001168	0	5	42		
ST7	7982	broad.mit.edu	37	7	116869938	116869938	+	3'UTR	SNP	A	A	C	rs201022134		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:116869938A>C	ENST00000393446.2	+	0	1902				ST7_ENST00000393447.4_3'UTR|ST7_ENST00000432298.1_3'UTR|ST7_ENST00000393443.1_3'UTR|ST7_ENST00000393444.3_3'UTR|ST7_ENST00000323984.3_3'UTR|ST7_ENST00000393449.1_3'UTR|ST7_ENST00000422922.1_3'UTR|ST7_ENST00000393451.3_3'UTR			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCACCTCACCCGCCGCTG	0.507																																						uc011knn.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1465-1467)ACC>CCC		suppression of tumorigenicity 7 isoform b							60.0	58.0	59.0					7																	116869938		2203	4300	6503	SO:0001624	3_prime_UTR_variant	7982					integral to membrane	binding	g.chr7:116869938A>C	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.*27A>C	7.37:g.116869938A>C						ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	p.T489P	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	14	1470	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		Error:Variant_position_missing_in_Q9NRC1_after_alignment					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000393446.2	37	c.1465A>C		.	.	.	.	.	.	.	.	.	.	A	3.912	-0.019789	0.07634	.	.	ENSG00000004866	ENST00000446490;ENST00000490039	T;T	0.20069	2.1;2.1	4.85	-9.7	0.00521	.	.	.	.	.	T	0.12902	0.0313	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	8	0.87932	D	0	.	8.0486	0.30564	0.3268:0.2885:0.3847:0.0	.	489	C9JU30	.	P	487;489	ENSP00000402934:T487P;ENSP00000419516:T489P	ENSP00000402934:T487P	T	+	1	0	ST7	116657174	0.000000	0.05858	0.008000	0.14137	0.044000	0.14063	-0.532000	0.06164	-1.939000	0.01044	-1.252000	0.01501	ACC		0.507	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908		13	37	0	0	0	0.004878	0	13	37		
CALD1	800	broad.mit.edu	37	7	134635196	134635196	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:134635196G>A	ENST00000361675.2	+	9	2095	c.1866G>A	c.(1864-1866)atG>atA	p.M622I	CALD1_ENST00000393118.2_Missense_Mutation_p.M387I|CALD1_ENST00000424922.1_Missense_Mutation_p.M361I|CALD1_ENST00000495522.1_Missense_Mutation_p.M387I|CALD1_ENST00000422748.1_Missense_Mutation_p.M393I|CALD1_ENST00000543443.1_Missense_Mutation_p.M372I|CALD1_ENST00000417172.1_Missense_Mutation_p.M367I|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361388.2_Missense_Mutation_p.M393I|CALD1_ENST00000361901.2_Missense_Mutation_p.M367I			Q05682	CALD1_HUMAN	caldesmon 1	622					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GCCAGAAGATGCCAGAAGATG	0.418																																						uc003vrz.2		NaN																	0					0						c.(1864-1866)ATG>ATA		caldesmon 1 isoform 1							99.0	99.0	99.0					7																	134635196		2203	4300	6503	SO:0001583	missense	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134635196G>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1866G>A	7.37:g.134635196G>A	ENSP00000354826:p.Met622Ile					CALD1_uc003vry.2_Missense_Mutation_p.M367I|CALD1_uc003vsa.2_Missense_Mutation_p.M393I|CALD1_uc003vsb.2_Missense_Mutation_p.M367I|CALD1_uc010lmm.2_Missense_Mutation_p.M393I|CALD1_uc011kpt.1_Missense_Mutation_p.M141I|CALD1_uc003vsc.2_Missense_Mutation_p.M387I|CALD1_uc003vsd.2_Missense_Mutation_p.M361I|CALD1_uc011kpu.1_Missense_Mutation_p.M372I|CALD1_uc011kpv.1_Missense_Mutation_p.M231I|CALD1_uc003vse.2_Missense_Mutation_p.M486I	p.M622I	NM_033138	NP_149129	Q05682	CALD1_HUMAN			9	2325	+			622					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	c.1866G>A	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645510	0.47258	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000432646;ENST00000361675;ENST00000361901;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.43	4.54	0.55810	.	0.119178	0.37393	N	0.002115	T	0.48314	0.1493	M	0.76574	2.34	0.36596	D	0.874371	B;B;B;B;B;B;B;B;B;B	0.27416	0.145;0.119;0.145;0.145;0.119;0.119;0.119;0.119;0.145;0.178	B;B;B;B;B;B;B;B;B;B	0.35550	0.053;0.046;0.076;0.076;0.046;0.046;0.046;0.046;0.076;0.205	T	0.56631	-0.7947	10	0.37606	T	0.19	-25.042	14.5552	0.68097	0.0715:0.0:0.9285:0.0	.	316;372;393;387;361;387;367;393;622;367	B4DPW5;F5H1Z9;A8K0X1;E7EX44;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;.;.;CALD1_HUMAN;.	I	367;367;393;393;1;622;367;387;361;387;372	ENSP00000398826:M367I;ENSP00000411476:M367I;ENSP00000355000:M393I;ENSP00000395710:M393I;ENSP00000354826:M622I;ENSP00000354513:M367I;ENSP00000376826:M387I;ENSP00000393621:M361I;ENSP00000419673:M387I;ENSP00000445641:M372I	ENSP00000355000:M393I	M	+	3	0	CALD1	134285736	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.789000	0.38724	2.550000	0.86006	0.591000	0.81541	ATG		0.418	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1		NM_033138		5	58	0	0	0	0.000602	0	5	58		
NOM1	64434	broad.mit.edu	37	7	156743110	156743110	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:156743110A>G	ENST00000275820.3	+	1	694	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	227	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGAGTCTGGGAAAAATAGCGG	0.552																																						uc003wmy.2		NaN																	0					0						c.(679-681)AAA>GAA		nucleolar protein with MIF4G domain 1							82.0	91.0	88.0					7																	156743110		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156743110A>G	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.679A>G	7.37:g.156743110A>G	ENSP00000275820:p.Lys227Glu						p.K227E	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	1	694	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	227			Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.679A>G	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350304	0.24512	.	.	ENSG00000146909	ENST00000275820	T	0.10668	2.85	4.09	-1.03	0.10102	.	1.742120	0.02986	N	0.146295	T	0.08044	0.0201	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36986	-0.9725	10	0.06365	T	0.9	0.0327	9.3239	0.37982	0.2942:0.0:0.7058:0.0	.	227	Q5C9Z4	NOM1_HUMAN	E	227	ENSP00000275820:K227E	ENSP00000275820:K227E	K	+	1	0	NOM1	156435871	0.008000	0.16893	0.000000	0.03702	0.616000	0.37450	-0.179000	0.09768	-0.088000	0.12506	0.529000	0.55759	AAA		0.552	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1		NM_138400		13	74	0	0	0	0.004007	0	13	74		
PSD3	23362	broad.mit.edu	37	8	18393456	18393456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:18393456C>A	ENST00000327040.8	-	16	3043	c.2941G>T	c.(2941-2943)Gaa>Taa	p.E981*	PSD3_ENST00000523619.1_Nonsense_Mutation_p.E916*|PSD3_ENST00000440756.2_Nonsense_Mutation_p.E983*|PSD3_ENST00000428502.2_Nonsense_Mutation_p.E310*|PSD3_ENST00000286485.8_Nonsense_Mutation_p.E447*	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	982					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACATACATTTCATAGCGGGTT	0.483																																						uc003wza.2		NaN																	0				ovary(3)	3						c.(2941-2943)GAA>TAA		ADP-ribosylation factor guanine nucleotide							85.0	77.0	80.0					8																	18393456		2203	4300	6503	SO:0001587	stop_gained	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393456C>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2941G>T	8.37:g.18393456C>A	ENSP00000324127:p.Glu981*					PSD3_uc003wyx.3_Nonsense_Mutation_p.E310*|PSD3_uc003wyy.2_Nonsense_Mutation_p.E447*|PSD3_uc003wyz.2_Nonsense_Mutation_p.E282*	p.E981*	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3044	-			982					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Nonsense_Mutation	SNP	ENST00000327040.8	37	c.2941G>T	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	38	6.659682	0.97743	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	.	.	.	5.8	5.8	0.92144	.	0.000000	0.43416	U	0.000568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	17.5408	0.87846	0.0:1.0:0.0:0.0	.	.	.	.	X	981;983;203;447;310;916	.	ENSP00000286485:E447X	E	-	1	0	PSD3	18437736	1.000000	0.71417	0.695000	0.30226	0.333000	0.28666	6.195000	0.72088	2.733000	0.93635	0.655000	0.94253	GAA		0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310		10	38	1	0	0.000673444	0.008291	0.00070694	10	38		
KCNU1	157855	broad.mit.edu	37	8	36722033	36722034	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:36722033_36722034CC>AG	ENST00000399881.3	+	19	2040_2041	c.2003_2004CC>AG	c.(2002-2004)aCC>aAG	p.T668K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	668					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTTCACCACCAGGTAAA	0.401																																						uc010lvw.2		NaN																	0				ovary(1)	1						c.(2002-2004)ACC>AAG		potassium channel, subfamily U, member 1																																				SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36722033_36722034CC>AG	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		Exception_encountered	8.37:g.36722033_36722034delinsAG	ENSP00000382770:p.Thr668Lys					KCNU1_uc003xjw.2_RNA	p.T668K	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	19	2090_2091	+			668			Cytoplasmic (Potential).			Missense_Mutation	DNP	ENST00000399881.3	37	c.2003_2004CC>AG	CCDS55220.1																																																																																				0.401	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836		25	54	0	0	0	0.004672	0	25	54		
ANK1	286	broad.mit.edu	37	8	41572563	41572563	+	Silent	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:41572563G>T	ENST00000347528.4	-	15	1715	c.1632C>A	c.(1630-1632)gcC>gcA	p.A544A	ANK1_ENST00000379758.2_Silent_p.A544A|ANK1_ENST00000289734.7_Silent_p.A544A|ANK1_ENST00000352337.4_Silent_p.A544A|ANK1_ENST00000396945.1_Silent_p.A544A|ANK1_ENST00000265709.8_Silent_p.A577A|ANK1_ENST00000396942.1_Silent_p.A544A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	544	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCCGTACTTGGCCGCCACGT	0.627																																						uc003xok.2		NaN																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(1630-1632)GCC>GCA		ankyrin 1 isoform 1							67.0	69.0	68.0					8																	41572563		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41572563G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1632C>A	8.37:g.41572563G>T						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.A544A|ANK1_uc003xoj.2_Silent_p.A544A|ANK1_uc003xol.2_Silent_p.A544A|ANK1_uc003xom.2_Silent_p.A577A	p.A544A	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		15	1716	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	544			89 kDa domain.|ANK 16.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1632C>A	CCDS6119.1																																																																																				0.627	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1		NM_020475		4	55	1	0	0.000602214	0.000602	0.000635495	4	55		
CHD7	55636	broad.mit.edu	37	8	61767054	61767054	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:61767054G>A	ENST00000423902.2	+	32	7387	c.6908G>A	c.(6907-6909)aGa>aAa	p.R2303K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2303					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)			CTTCATGAAAGAACATTTGCC	0.443																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6907-6909)AGA>AAA		chromodomain helicase DNA binding protein 7							215.0	196.0	202.0					8																	61767054		1901	4116	6017	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.chr8:61767054G>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.6908G>A	8.37:g.61767054G>A	ENSP00000392028:p.Arg2303Lys						p.R2303K	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		32	7385	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2303					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6908G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925490	0.34002	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.80480	-1.38	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	N	0.19112	0.55	0.54753	D	0.999983	P	0.46656	0.882	B	0.43701	0.428	T	0.68315	-0.5441	10	0.08599	T	0.76	-16.5036	20.0222	0.97508	0.0:0.0:1.0:0.0	.	2303	Q9P2D1	CHD7_HUMAN	K	2303	ENSP00000392028:R2303K	ENSP00000307304:R2303K	R	+	2	0	CHD7	61929608	1.000000	0.71417	0.877000	0.34402	0.881000	0.50899	9.188000	0.94921	2.726000	0.93360	0.655000	0.94253	AGA		0.443	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		8	52	0	0	0	0.00308	0	8	52		
DNAJC5B	85479	broad.mit.edu	37	8	66963856	66963856	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:66963856G>C	ENST00000276570.5	+	3	361	c.74G>C	c.(73-75)gGt>gCt	p.G25A	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	25	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			GAAATTCTTGGTCTGCATAAG	0.398																																						uc003xvs.1		NaN																	0					0						c.(73-75)GGT>GCT		DnaJ (Hsp40) homolog, subfamily C, member 5							129.0	122.0	124.0					8																	66963856		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66963856G>C	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.74G>C	8.37:g.66963856G>C	ENSP00000276570:p.Gly25Ala					DNAJC5B_uc003xvt.1_RNA	p.G25A	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		3	365	+		Lung NSC(129;0.114)|all_lung(136;0.188)	25			J.		Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.74G>C	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898904	0.52227	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.80033	-1.33;-1.33	5.88	5.88	0.94601	Heat shock protein DnaJ, N-terminal (5);	0.063428	0.64402	D	0.000009	D	0.88463	0.6443	M	0.91300	3.195	0.51767	D	0.999939	B	0.31989	0.35	B	0.44163	0.443	D	0.88214	0.2892	10	0.54805	T	0.06	.	14.7523	0.69536	0.0:0.1442:0.8558:0.0	.	25	Q9UF47	DNJ5B_HUMAN	A	25	ENSP00000276570:G25A;ENSP00000430196:G25A	ENSP00000276570:G25A	G	+	2	0	DNAJC5B	67126410	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.384000	0.59607	2.791000	0.96007	0.563000	0.77884	GGT		0.398	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1		NM_033105		14	78	0	0	0	0.003163	0	14	78		
RAD21	5885	broad.mit.edu	37	8	117866648	117866648	+	Missense_Mutation	SNP	C	C	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:117866648C>G	ENST00000297338.2	-	9	1284	c.997G>C	c.(997-999)Gat>Cat	p.D333H	RAD21_ENST00000523986.1_5'Flank|RAD21_ENST00000518055.1_5'Flank|RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	333	Interaction with WAPAL and PDS5B.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GTCTTGCTATCCAACTCTTTG	0.378																																						uc003yod.2		NaN																	0				lung(1)|skin(1)	2						c.(997-999)GAT>CAT		RAD21 homolog							171.0	163.0	166.0					8																	117866648		2203	4300	6503	SO:0001583	missense	5885				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	g.chr8:117866648C>G	BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"""sister chromatid cohesion 1"""	606462	"""RAD21 (S. pombe) homolog"""			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.997G>C	8.37:g.117866648C>G	ENSP00000297338:p.Asp333His						p.D333H	NM_006265	NP_006256	O60216	RAD21_HUMAN			9	1285	-	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)		333			Interaction with WAPAL and PDS5B.		A8K0E0|Q15001|Q99568	Missense_Mutation	SNP	ENST00000297338.2	37	c.997G>C	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742841	0.89573	.	.	ENSG00000164754	ENST00000297338	T	0.63255	-0.03	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.79335	0.4428	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80982	-0.1139	10	0.66056	D	0.02	1.2561	19.0343	0.92971	0.0:1.0:0.0:0.0	.	333	O60216	RAD21_HUMAN	H	333	ENSP00000297338:D333H	ENSP00000297338:D333H	D	-	1	0	RAD21	117935829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	2.505000	0.84491	0.557000	0.71058	GAT		0.378	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381184.1		NM_006265		41	88	0	0	0	0.010771	0	41	88		
TAF2	6873	broad.mit.edu	37	8	120790295	120790295	+	Silent	SNP	T	T	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:120790295T>C	ENST00000378164.2	-	18	2626	c.2328A>G	c.(2326-2328)ttA>ttG	p.L776L		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	776					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGATTAAGTCTAAAATAAATG	0.264																																						uc003you.2		NaN																	0				large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(2326-2328)TTA>TTG		TBP-associated factor 2							41.0	44.0	43.0					8																	120790295		2200	4285	6485	SO:0001819	synonymous_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120790295T>C	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2328A>G	8.37:g.120790295T>C							p.L776L	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		18	2598	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		776					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.2328A>G	CCDS34937.1																																																																																				0.264	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1		NM_003184		5	20	0	0	0	0.000602	0	5	20		
MTSS1	9788	broad.mit.edu	37	8	125577982	125577982	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:125577982C>T	ENST00000518547.1	-	9	1218	c.745G>A	c.(745-747)Ggt>Agt	p.G249S	MTSS1_ENST00000431961.2_Missense_Mutation_p.G49S|MTSS1_ENST00000354184.4_Missense_Mutation_p.G49S|MTSS1_ENST00000378017.3_Missense_Mutation_p.G249S|MTSS1_ENST00000524090.1_Missense_Mutation_p.G139S|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000523587.1_5'Flank|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000325064.5_Missense_Mutation_p.G253S	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	249	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.|Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAATCAGAACCTTTCAAGTCC	0.542																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2		NaN																	0				ovary(1)	1						c.(745-747)GGT>AGT		metastasis suppressor 1							96.0	82.0	87.0					8																	125577982		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125577982C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.745G>A	8.37:g.125577982C>T	ENSP00000429064:p.Gly249Ser					NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'UTR|MTSS1_uc011lio.1_Missense_Mutation_p.G139S|MTSS1_uc003yri.2_Missense_Mutation_p.G49S|MTSS1_uc003yrj.2_Missense_Mutation_p.G249S|MTSS1_uc003yrl.2_Missense_Mutation_p.G253S	p.G249S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		9	1279	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		249			IMD.|Ser-rich.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.745G>A	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.139347|4.139347	0.77775|0.77775	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118|ENST00000523179	T;T;T;T;T;T;T|.	0.55413|.	1.15;1.18;1.16;1.31;1.16;1.15;0.52|.	5.42|5.42	5.42|5.42	0.78866|0.78866	IRSp53/MIM homology domain (IMD) (2);|.	0.098564|.	0.64402|.	D|.	0.000002|.	T|T	0.73210|0.73210	0.3558|0.3558	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;P;P;P;P|.	0.53312|.	0.959;0.589;0.768;0.926;0.773|.	P;B;B;P;B|.	0.50617|.	0.634;0.222;0.298;0.646;0.273|.	T|T	0.69771|0.69771	-0.5055|-0.5055	10|5	0.36615|.	T|.	0.2|.	-15.8252|-15.8252	19.5998|19.5998	0.95557|0.95557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	139;249;249;249;49|.	E7EWW5;A5YM41;O43312;O43312-4;O43312-2|.	.;.;MTSS1_HUMAN;.;.|.	S|K	249;249;49;253;49;139;49|96	ENSP00000367256:G249S;ENSP00000429064:G249S;ENSP00000346119:G49S;ENSP00000322804:G253S;ENSP00000393606:G49S;ENSP00000428319:G139S;ENSP00000428145:G49S|.	ENSP00000322804:G253S|.	G|R	-|-	1|2	0|0	MTSS1|MTSS1	125647163|125647163	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.925000|5.925000	0.70062|0.70062	2.717000|2.717000	0.92951|0.92951	0.655000|0.655000	0.94253|0.94253	GGT|AGG		0.542	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3		NM_014751		3	31	0	0	0	0.004672	0	3	31		
MYC	4609	broad.mit.edu	37	8	128750529	128750529	+	Missense_Mutation	SNP	C	C	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:128750529C>A	ENST00000259523.6	+	2	1226	c.21C>A	c.(19-21)ttC>ttA	p.F7L	MYC_ENST00000524013.1_Missense_Mutation_p.F21L|MYC_ENST00000377970.2_Missense_Mutation_p.F22L			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	7				SF -> TI (in Ref. 5; no nucleotide entry). {ECO:0000305}.	branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ACGTTAGCTTCACCAACAGGA	0.587		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ysh.1		3		Dom	yes		8	8q24.12-q24.13	4609	A|T	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@		Burkitt lymphoma| amplified in other cancers|B-CLL		0				lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6						c.(19-21)TTC>TTA		myc proto-oncogene protein							75.0	75.0	75.0					8																	128750529		2203	4300	6503	SO:0001583	missense	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750529C>A		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.21C>A	8.37:g.128750529C>A	ENSP00000259523:p.Phe7Leu		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_uc003ysi.2_Missense_Mutation_p.F22L	p.F7L	NM_002467	NP_002458	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	534	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	7	SF -> TI (in Ref. 5; no nucleotide entry).				A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37	c.21C>A		.	.	.	.	.	.	.	.	.	.	C	7.262	0.605386	0.14002	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.08	4.2	0.49525	Transcription regulator Myc, N-terminal (1);	0.520654	0.22637	N	0.057517	T	0.04907	0.0132	N	0.05534	-0.03	0.30801	N	0.739895	B	0.06786	0.001	B	0.06405	0.002	T	0.23368	-1.0190	10	0.02654	T	1	-23.3629	12.4632	0.55743	0.0:0.9198:0.0:0.0802	.	7	P01106	MYC_HUMAN	L	7;21;22;21;7	ENSP00000259523:F7L;ENSP00000429441:F21L;ENSP00000367207:F22L;ENSP00000430235:F21L	ENSP00000259523:F7L	F	+	3	2	MYC	128819711	0.781000	0.28676	0.967000	0.41034	0.892000	0.51952	1.183000	0.32041	1.374000	0.46228	0.561000	0.74099	TTC		0.587	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1				29	61	1	0	1.08312e-15	0.009535	1.29651e-15	29	61		
TG	7038	broad.mit.edu	37	8	133948082	133948082	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:133948082G>A	ENST00000220616.4	+	25	5054	c.5014G>A	c.(5014-5016)Gat>Aat	p.D1672N	TG_ENST00000542445.1_Missense_Mutation_p.D106N|TG_ENST00000377869.1_Missense_Mutation_p.D1615N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1672					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCATGGTCAAGATTCTCCAGC	0.527																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(5014-5016)GAT>AAT		thyroglobulin precursor							108.0	89.0	96.0					8																	133948082		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133948082G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5014G>A	8.37:g.133948082G>A	ENSP00000220616:p.Asp1672Asn					TG_uc010mdw.2_Missense_Mutation_p.D431N|TG_uc011ljb.1_Missense_Mutation_p.D105N	p.D1672N	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	25	5055	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1672			Type IIIA.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.5014G>A	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.039|7.039	0.562242|0.562242	0.13498|0.13498	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445|ENST00000519178	T;T;T|.	0.67345|.	-0.26;-0.26;-0.26|.	6.16|6.16	3.35|3.35	0.38373|0.38373	.|.	1.571710|.	0.03285|.	N|.	0.186780|.	T|T	0.46964|0.46964	0.1420|0.1420	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	P;B|.	0.38504|.	0.634;0.069|.	B;B|.	0.33620|.	0.167;0.011|.	T|T	0.38478|0.38478	-0.9659|-0.9659	10|5	0.46703|.	T|.	0.11|.	.|.	6.0204|6.0204	0.19626|0.19626	0.1574:0.0:0.6918:0.1508|0.1574:0.0:0.6918:0.1508	.|.	106;1672|.	F5GWW5;P01266|.	.;THYG_HUMAN|.	N|K	1615;478;1672;106|191	ENSP00000367100:D1615N;ENSP00000220616:D1672N;ENSP00000441693:D106N|.	ENSP00000220616:D1672N|.	D|R	+|+	1|2	0|0	TG|TG	134017264|134017264	0.020000|0.020000	0.18652|0.18652	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	2.161000|2.161000	0.42358|0.42358	0.948000|0.948000	0.37687|0.37687	-0.145000|-0.145000	0.13849|0.13849	GAT|AGA		0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		8	34	0	0	0	0.00308	0	8	34		
ST3GAL1	6482	broad.mit.edu	37	8	134475669	134475669	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:134475669C>T	ENST00000319914.5	-	7	1744	c.717G>A	c.(715-717)gtG>gtA	p.V239V	ST3GAL1_ENST00000399640.2_Silent_p.V239V|ST3GAL1_ENST00000522652.1_Silent_p.V239V|ST3GAL1_ENST00000521180.1_Silent_p.V239V			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	239					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TATCCTGTTTCACTCTGATCT	0.547																																						uc003yuk.2		NaN																	0					0						c.(715-717)GTG>GTA		ST3 beta-galactoside alpha-2,3-sialyltransferase							114.0	102.0	106.0					8																	134475669		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134475669C>T	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.717G>A	8.37:g.134475669C>T						ST3GAL1_uc003yum.2_Silent_p.V239V	p.V239V	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		8	1546	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		239			Lumenal (Potential).		O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.717G>A	CCDS6373.1																																																																																				0.547	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1		NM_003033		3	17	0	0	0	0.009096	0	3	17		
CPSF1	29894	broad.mit.edu	37	8	145624759	145624759	+	Silent	SNP	C	C	T	rs534194187		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr8:145624759C>T	ENST00000349769.3	-	14	1393	c.1299G>A	c.(1297-1299)gcG>gcA	p.A433A	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	433					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.A433A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCGACTTACCCGCAGCTGCAC	0.657													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14246	0.0		0.0	False		,,,				2504	0.0				NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NaN																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1297-1299)GCG>GCA		cleavage and polyadenylation specific factor 1,							46.0	39.0	41.0					8																	145624759		2203	4300	6503	SO:0001819	synonymous_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145624759C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1299G>A	8.37:g.145624759C>T							p.A433A	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		14	1374	-	all_cancers(97;6.64e-12)|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)		433					Q96AF0	Silent	SNP	ENST00000349769.3	37	c.1299G>A	CCDS34966.1																																																																																				0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2		NM_013291		7	22	0	0	0	0.001984	0	7	22		
CDC37L1	55664	broad.mit.edu	37	9	4679834	4679834	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:4679834G>C	ENST00000381854.3	+	1	269	c.67G>C	c.(67-69)Gag>Cag	p.E23Q	CDC37L1_ENST00000381858.1_Missense_Mutation_p.E23Q|CDC37L1_ENST00000479095.1_3'UTR|RP11-6J24.6_ENST00000607997.1_lincRNA	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	23	Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		GGCTGAGGAAGAGAGTGACTT	0.697											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zio.2		NaN																	0					0						c.(67-69)GAG>CAG		cell division cycle 37 homolog (S.							42.0	47.0	45.0					9																	4679834		2203	4299	6502	SO:0001583	missense	55664					cytoplasm		g.chr9:4679834G>C	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.67G>C	9.37:g.4679834G>C	ENSP00000371278:p.Glu23Gln		OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620		p.E23Q	NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	1	277	+	all_hematologic(13;0.137)	Breast(48;0.238)	23			Self-association.		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	ENST00000381854.3	37	c.67G>C	CCDS6454.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839626	0.71488	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.48836	0.8;0.8	5.01	5.01	0.66863	.	0.067332	0.56097	D	0.000024	T	0.29588	0.0738	N	0.14661	0.345	0.31120	N	0.708908	P	0.37466	0.596	B	0.32289	0.143	T	0.40440	-0.9563	10	0.52906	T	0.07	0.1152	13.6821	0.62491	0.0:0.0:1.0:0.0	.	23	Q7L3B6	CD37L_HUMAN	Q	23	ENSP00000371282:E23Q;ENSP00000371278:E23Q	ENSP00000371278:E23Q	E	+	1	0	CDC37L1	4669834	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.966000	0.56795	2.606000	0.88127	0.557000	0.71058	GAG		0.697	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1		NM_017913		7	40	0	0	0	0.001984	0	7	40		
TEK	7010	broad.mit.edu	37	9	27197331	27197331	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:27197331G>C	ENST00000380036.4	+	12	2085	c.1643G>C	c.(1642-1644)gGt>gCt	p.G548A	TEK_ENST00000519097.1_Missense_Mutation_p.G401A|TEK_ENST00000406359.4_Missense_Mutation_p.G505A|RNA5SP280_ENST00000411230.1_RNA	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	548	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CCTCCAAGAGGTCTAAATCTC	0.403																																						uc003zqi.3		NaN																	0				ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1)	12						c.(1642-1644)GGT>GCT		TEK tyrosine kinase, endothelial precursor							66.0	69.0	68.0					9																	27197331		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27197331G>C	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1643G>C	9.37:g.27197331G>C	ENSP00000369375:p.Gly548Ala					TEK_uc011lno.1_Missense_Mutation_p.G505A|TEK_uc011lnp.1_Missense_Mutation_p.G401A|TEK_uc003zqj.1_Missense_Mutation_p.G482A	p.G548A	NM_000459	NP_000450	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	12	2085	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	548			Extracellular (Potential).|Fibronectin type-III 2.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1643G>C	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244963	0.22796	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.54	5.54	0.83059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000072	T	0.61961	0.2389	L	0.27053	0.805	0.58432	D	0.999996	D;B;D;B	0.76494	0.999;0.003;0.999;0.008	D;B;D;B	0.91635	0.999;0.02;0.999;0.019	T	0.57260	-0.7842	10	0.27082	T	0.32	.	19.4903	0.95047	0.0:0.0:1.0:0.0	.	401;581;505;548	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	A	401;548;505;358	ENSP00000430686:G401A;ENSP00000369375:G548A;ENSP00000383977:G505A;ENSP00000428337:G358A	ENSP00000369375:G548A	G	+	2	0	TEK	27187331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.850000	0.62889	2.619000	0.88677	0.655000	0.94253	GGT		0.403	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3				8	72	0	0	0	0.00308	0	8	72		
CCL27	10850	broad.mit.edu	37	9	34662358	34662358	+	Silent	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:34662358G>C	ENST00000259631.4	-	2	184	c.126C>G	c.(124-126)ctC>ctG	p.L42L	CCL27_ENST00000557161.1_5'UTR|RP11-195F19.30_ENST00000564224.1_RNA	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	42					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCTTGTCTGAGAGTGGCTTTC	0.577																																						uc003zvm.1		NaN																	0					0						c.(124-126)CTC>CTG		small inducible cytokine A27 precursor							77.0	66.0	69.0					9																	34662358		2203	4300	6503	SO:0001819	synonymous_variant	10850				cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity	g.chr9:34662358G>C	AJ243542	CCDS6569.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000213927	ENSG00000213927		"""Chemokine ligands"", ""Endogenous ligands"""	10626	protein-coding gene	gene with protein product	"""CC chemokine ILC"", ""IL-11 Ralpha-locus chemokine"", ""cutaneous T-cell attracting chemokine"""	604833	"""small inducible cytokine subfamily A (Cys-Cys), member 27"""	SCYA27		10556532, 10588729	Standard	NM_006664		Approved	ALP, ILC, CTACK, skinkine, ESkine, PESKY, CTAK	uc003zvm.1	Q9Y4X3	OTTHUMG00000019834	ENST00000259631.4:c.126C>G	9.37:g.34662358G>C							p.L42L	NM_006664	NP_006655	Q9Y4X3	CCL27_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	2	185	-	all_epithelial(49;0.102)		42						Silent	SNP	ENST00000259631.4	37	c.126C>G	CCDS6569.1																																																																																				0.577	CCL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052228.1		NM_006664		9	27	0	0	0	0.008291	0	9	27		
UNC13B	10497	broad.mit.edu	37	9	35396570	35396570	+	Silent	SNP	C	C	T	rs150684985		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:35396570C>T	ENST00000378495.3	+	26	3381	c.3159C>T	c.(3157-3159)gtC>gtT	p.V1053V	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Silent_p.V1053V|UNC13B_ENST00000396787.1_Silent_p.V1065V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1053	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.V1053V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCCTGTCCTCCAGGGGC	0.547																																						uc003zwq.2		NaN																	1	Substitution - coding silent(1)	p.V1053V(1)	skin(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(3157-3159)GTC>GTT		UNC13 (C. elegans)-like							100.0	86.0	90.0					9																	35396570		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35396570C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3159C>T	9.37:g.35396570C>T						UNC13B_uc003zwr.2_Silent_p.V1053V	p.V1053V	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		26	3451	+	all_epithelial(49;0.212)		1053			MHD1.		Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.3159C>T	CCDS6579.1																																																																																				0.547	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1		NM_006377		23	51	0	0	0	0.014323	0	23	51		
GDA	9615	broad.mit.edu	37	9	74856157	74856157	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:74856157G>A	ENST00000358399.3	+	11	1171	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	GDA_ENST00000376986.1_Missense_Mutation_p.E282K|GDA_ENST00000376989.3_Missense_Mutation_p.E299K|GDA_ENST00000545168.1_Missense_Mutation_p.E286K|GDA_ENST00000238018.4_Missense_Mutation_p.E360K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	360					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TAAGGTAAATGAGAAAAGCCT	0.403																																						uc004aiq.2		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1078-1080)GAG>AAG		guanine deaminase							76.0	73.0	74.0					9																	74856157		2203	4300	6503	SO:0001583	missense	9615				nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	g.chr9:74856157G>A	AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1078G>A	9.37:g.74856157G>A	ENSP00000351170:p.Glu360Lys					GDA_uc011lse.1_Missense_Mutation_p.E286K|GDA_uc011lsf.1_Missense_Mutation_p.E286K|GDA_uc004air.2_Missense_Mutation_p.E360K|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.E282K	p.E360K	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN		Lung(182;0.0583)	11	1261	+		Myeloproliferative disorder(762;0.0122)	360					B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	c.1078G>A	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.137902	0.37728	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.82	4.92	0.64577	Amidohydrolase 1 (1);	0.447768	0.29565	N	0.011800	T	0.32102	0.0818	N	0.13098	0.295	0.36707	D	0.880418	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.009;0.003;0.004	T	0.23226	-1.0194	9	0.07813	T	0.8	-3.5729	12.2395	0.54534	0.0797:0.0:0.9203:0.0	.	282;360;360	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	286;360;299;282;360;68	.	ENSP00000238018:E360K	E	+	1	0	GDA	74045977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.524000	0.45589	1.463000	0.47967	0.655000	0.94253	GAG		0.403	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1				6	55	0	0	0	0.001168	0	6	55		
VPS13A	23230	broad.mit.edu	37	9	79974283	79974283	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:79974283G>C	ENST00000360280.3	+	58	8330	c.8070G>C	c.(8068-8070)atG>atC	p.M2690I	VPS13A_ENST00000376634.4_Missense_Mutation_p.M2690I|VPS13A_ENST00000357409.5_Missense_Mutation_p.M2690I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M2651I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2690					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTATTGTCATGAGATCTGCAG	0.308																																						uc004akr.2		NaN																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(8068-8070)ATG>ATC		vacuolar protein sorting 13A isoform A							102.0	96.0	98.0					9																	79974283		2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79974283G>C	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.8070G>C	9.37:g.79974283G>C	ENSP00000353422:p.Met2690Ile					VPS13A_uc004akp.3_Missense_Mutation_p.M2690I|VPS13A_uc004akq.3_Missense_Mutation_p.M2690I|VPS13A_uc004aks.2_Missense_Mutation_p.M2651I	p.M2690I	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			58	8330	+			2690					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.8070G>C	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598206	0.46318	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.74	5.74	0.90152	.	0.047867	0.85682	D	0.000000	T	0.72260	0.3438	L	0.55103	1.725	0.80722	D	1	B;B;B;B	0.26876	0.01;0.047;0.162;0.162	B;B;B;B	0.22386	0.021;0.017;0.039;0.039	T	0.67241	-0.5720	9	.	.	.	.	14.1264	0.65222	0.0718:0.0:0.9282:0.0	.	2651;2690;2690;2690	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	I	2690;2651;2690;2690	ENSP00000365821:M2690I;ENSP00000365823:M2651I;ENSP00000353422:M2690I;ENSP00000349985:M2690I	.	M	+	3	0	VPS13A	79164103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.046000	0.49846	2.695000	0.91970	0.650000	0.86243	ATG		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2		NM_015186		4	21	0	0	0	0.009096	0	4	21		
ZCCHC6	79670	broad.mit.edu	37	9	88967883	88967883	+	Missense_Mutation	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:88967883C>T	ENST00000375963.3	-	2	404	c.232G>A	c.(232-234)Gca>Aca	p.A78T	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A78T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.A78T	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	78					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTTTTAAATGCATATGGATTG	0.418																																						uc004aoq.2		NaN																	0				ovary(2)	2						c.(232-234)GCA>ACA		zinc finger, CCHC domain containing 6							174.0	164.0	167.0					9																	88967883		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967883C>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.232G>A	9.37:g.88967883C>T	ENSP00000365130:p.Ala78Thr					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aou.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aov.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aow.2_Missense_Mutation_p.A78T|ZCCHC6_uc010mqf.1_Missense_Mutation_p.A78T	p.A78T	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			2	447	-			78					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.232G>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.569330	0.45798	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.48836	0.81;0.8;0.8	4.88	4.88	0.63580	.	0.221192	0.31772	N	0.007083	T	0.30448	0.0765	N	0.24115	0.695	0.27844	N	0.940994	B;B;B;B;P	0.40970	0.4;0.112;0.4;0.094;0.734	B;B;B;B;B	0.37731	0.121;0.029;0.121;0.045;0.257	T	0.31779	-0.9931	10	0.72032	D	0.01	-12.5002	6.4421	0.21854	0.2329:0.6767:0.0:0.0903	.	78;78;78;78;78	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	T	78	ENSP00000365127:A78T;ENSP00000365128:A78T;ENSP00000365130:A78T	ENSP00000365127:A78T	A	-	1	0	ZCCHC6	88157703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.398000	0.44486	2.523000	0.85059	0.591000	0.81541	GCA		0.418	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617		15	144	0	0	0	0.003163	0	15	144		
TDRD7	23424	broad.mit.edu	37	9	100245529	100245529	+	Silent	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:100245529G>A	ENST00000355295.4	+	15	3106	c.2811G>A	c.(2809-2811)aaG>aaA	p.K937K	TDRD7_ENST00000422139.2_Silent_p.K863K|TDRD7_ENST00000540902.1_Silent_p.K257K	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	937	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGATACATAAGTTGGAAGTTC	0.478																																						uc004axj.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2809-2811)AAG>AAA		tudor domain containing 7							80.0	78.0	78.0					9																	100245529		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100245529G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.2811G>A	9.37:g.100245529G>A						TDRD7_uc011lux.1_Silent_p.K863K|TDRD7_uc010msp.1_Silent_p.K189K|TDRD7_uc011luy.1_Silent_p.K257K	p.K937K	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			15	3036	+		Acute lymphoblastic leukemia(62;0.158)	937			Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.2811G>A	CCDS6725.1																																																																																				0.478	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1		NM_014290		6	75	0	0	0	0.001168	0	6	75		
PAPPA	5069	broad.mit.edu	37	9	118950282	118950282	+	Missense_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:118950282A>G	ENST00000328252.3	+	2	1634	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	422	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTGGGGATGAGAACTGTGAC	0.627																																						uc004bjn.2		NaN																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(1264-1266)GAG>GGG		pregnancy-associated plasma protein A							70.0	60.0	63.0					9																	118950282		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950282A>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1265A>G	9.37:g.118950282A>G	ENSP00000330658:p.Glu422Gly					PAPPA_uc011lxp.1_Missense_Mutation_p.E215G|PAPPA_uc011lxq.1_Missense_Mutation_p.E215G	p.E422G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	1646	+			422			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1265A>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394354	0.42410	.	.	ENSG00000182752	ENST00000328252	D	0.87571	-2.27	6.17	6.17	0.99709	Notch domain (2);	0.101611	0.64402	D	0.000001	T	0.77651	0.4162	N	0.17082	0.46	0.80722	D	1	B	0.16802	0.019	B	0.21151	0.033	T	0.72286	-0.4338	10	0.34782	T	0.22	-28.2076	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	422	Q13219	PAPP1_HUMAN	G	422	ENSP00000330658:E422G	ENSP00000330658:E422G	E	+	2	0	PAPPA	117990103	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.492000	0.66893	2.371000	0.80710	0.533000	0.62120	GAG		0.627	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1		NM_002581		19	36	0	0	0	0.007413	0	19	36		
STRBP	55342	broad.mit.edu	37	9	125898437	125898437	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:125898437G>C	ENST00000348403.5	-	16	2085	c.1656C>G	c.(1654-1656)ttC>ttG	p.F552L	STRBP_ENST00000447404.2_Missense_Mutation_p.F552L|STRBP_ENST00000360998.3_Missense_Mutation_p.F538L	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	552	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CTGCGCCTCTGAATTTCTGTC	0.393																																						uc004bns.2		NaN																	0				breast(1)|skin(1)	2						c.(1654-1656)TTC>TTG		spermatid perinuclear RNA binding protein							116.0	117.0	117.0					9																	125898437		2203	4300	6503	SO:0001583	missense	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125898437G>C	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1656C>G	9.37:g.125898437G>C	ENSP00000321347:p.Phe552Leu					STRBP_uc004bnt.2_Missense_Mutation_p.F370L|STRBP_uc004bnu.2_Missense_Mutation_p.F538L|STRBP_uc004bnv.2_Missense_Mutation_p.F552L|STRBP_uc004bnr.2_Missense_Mutation_p.F111L	p.F552L	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			16	2086	-			552			DRBM 2.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.1656C>G	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763816	0.89932	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.76968	-1.06;-1.06;-1.06	5.42	5.42	0.78866	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.83166	0.5195	L	0.43701	1.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84379	0.0548	10	0.87932	D	0	-7.3968	12.5643	0.56300	0.0754:0.0:0.9246:0.0	.	552;538	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	L	552;552;538	ENSP00000415968:F552L;ENSP00000321347:F552L;ENSP00000354271:F538L	ENSP00000321347:F552L	F	-	3	2	STRBP	124938258	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.986000	0.49370	2.542000	0.85734	0.655000	0.94253	TTC		0.393	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1				10	71	0	0	0	0.006214	0	10	71		
SH2D3C	10044	broad.mit.edu	37	9	130507349	130507349	+	Missense_Mutation	SNP	G	G	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:130507349G>T	ENST00000314830.8	-	7	1407	c.1294C>A	c.(1294-1296)Cct>Act	p.P432T	SH2D3C_ENST00000373276.3_Missense_Mutation_p.P364T|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P275T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P272T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P274T|SH2D3C_ENST00000429553.1_Missense_Mutation_p.P78T|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	432					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGGCAGAAGGGGCTGCAGGG	0.627																																						uc004bsc.2		NaN																	0				ovary(1)	1						c.(1294-1296)CCT>ACT		SH2 domain containing 3C isoform a							19.0	25.0	23.0					9																	130507349		2181	4263	6444	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507349G>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1294C>A	9.37:g.130507349G>T	ENSP00000317817:p.Pro432Thr					SH2D3C_uc010mxo.2_Missense_Mutation_p.P272T|SH2D3C_uc004bry.2_Missense_Mutation_p.P274T|SH2D3C_uc004brz.3_Missense_Mutation_p.P78T|SH2D3C_uc011mak.1_Missense_Mutation_p.P78T|SH2D3C_uc004bsa.2_Missense_Mutation_p.P275T|SH2D3C_uc004bsb.2_Missense_Mutation_p.P364T	p.P432T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			7	1436	-			432					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.1294C>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370981	0.24771	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.1	3.25	0.37280	.	0.171962	0.52532	D	0.000080	T	0.31199	0.0789	L	0.50333	1.59	0.09310	N	1	B;B;P;P;B	0.44734	0.002;0.031;0.842;0.589;0.053	B;B;B;B;B	0.39027	0.002;0.006;0.165;0.288;0.013	T	0.13072	-1.0523	10	0.29301	T	0.29	-3.0543	6.1353	0.20227	0.1653:0.3179:0.5168:0.0	.	272;432;364;275;274	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	T	275;274;364;272;78;432	ENSP00000362374:P275T;ENSP00000388536:P274T;ENSP00000362373:P364T;ENSP00000362371:P272T;ENSP00000394632:P78T;ENSP00000317817:P432T	ENSP00000317817:P432T	P	-	1	0	SH2D3C	129547170	1.000000	0.71417	0.523000	0.27875	0.947000	0.59692	2.992000	0.49417	0.539000	0.28788	0.462000	0.41574	CCT		0.627	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1		NM_005489		15	27	1	0	3.27435e-08	0.00245	3.71959e-08	15	27		
PKN3	29941	broad.mit.edu	37	9	131475651	131475651	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr9:131475651C>T	ENST00000291906.4	+	8	1470	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	359					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGACCTTTGTCATCCCACTGG	0.652																																						uc004bvw.2		NaN																	0				stomach(2)|lung(2)	4						c.(1075-1077)GTC>GTT		protein kinase PKNbeta							72.0	76.0	75.0					9																	131475651		2203	4300	6503	SO:0001819	synonymous_variant	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131475651C>T	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.1077C>T	9.37:g.131475651C>T						PKN3_uc010myh.2_Silent_p.V359V|PKN3_uc011mbk.1_5'UTR	p.V359V	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN			8	1470	+			359					Q9UM03	Silent	SNP	ENST00000291906.4	37	c.1077C>T	CCDS6908.1																																																																																				0.652	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1		NM_013355		8	31	0	0	0	0.004482	0	8	31		
EDA	1896	broad.mit.edu	37	X	69255458	69255458	+	Nonstop_Mutation	SNP	A	A	G			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:69255458A>G	ENST00000374552.4	+	8	1417	c.1175A>G	c.(1174-1176)tAg>tGg	p.*392W	EDA_ENST00000524573.1_Nonstop_Mutation_p.*387W|EDA_ENST00000374553.2_Nonstop_Mutation_p.*390W	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	0					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCTGCATCCTAGATTCCCCCC	0.567																																						uc004dxs.2		NaN																	0				ovary(2)|large_intestine(1)	3						c.(1174-1176)TAG>TGG		ectodysplasin A isoform EDA-A1							114.0	88.0	97.0					X																	69255458		2203	4300	6503	SO:0001578	stop_lost	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:69255458A>G	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.1175A>G	X.37:g.69255458A>G	ENSP00000363680:p.*392Trpext*29					EDA_uc004dxr.2_Nonstop_Mutation_p.*390W|EDA_uc011mpj.1_Nonstop_Mutation_p.*387W	p.*392W	NM_001399	NP_001390	Q92838	EDA_HUMAN			8	1417	+			392					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Nonstop_Mutation	SNP	ENST00000374552.4	37	c.1175A>G	CCDS14394.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318763	0.81469	.	.	ENSG00000158813	ENST00000374552;ENST00000374553;ENST00000524573	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6119	0.62083	1.0:0.0:0.0:0.0	.	.	.	.	W	392;390;387	.	.	X	+	2	0	EDA	69172183	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.078000	0.71282	1.810000	0.52873	0.430000	0.28490	TAG		0.567	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2		NM_001399		31	34	0	0	0	0.009535	0	31	34		
ITGB1BP2	26548	broad.mit.edu	37	X	70522288	70522288	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:70522288G>A	ENST00000373829.3	+	4	272	c.199G>A	c.(199-201)Gag>Aag	p.E67K	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.E49K	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	67					muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					ACACTGTGCTGAGAAGCTTCC	0.458																																						uc004dzr.1		NaN																	0				ovary(1)	1						c.(199-201)GAG>AAG		integrin beta 1 binding protein 2							64.0	62.0	63.0					X																	70522288		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70522288G>A	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.199G>A	X.37:g.70522288G>A	ENSP00000362935:p.Glu67Lys					BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.E49K	p.E67K	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN			4	228	+	Renal(35;0.156)		67					Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.199G>A	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	g	14.62	2.590706	0.46214	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	4.91	4.91	0.64330	.	0.050508	0.85682	D	0.000000	T	0.40473	0.1118	L	0.41492	1.28	0.50467	D	0.999878	P;B	0.45044	0.849;0.096	B;B	0.37015	0.239;0.021	T	0.30621	-0.9972	9	0.33141	T	0.24	-15.5979	12.3781	0.55291	0.0:0.0:1.0:0.0	.	49;67	Q32N04;Q9UKP3	.;ITBP2_HUMAN	K	67;49	.	ENSP00000362935:E67K	E	+	1	0	ITGB1BP2	70439013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.151000	0.58105	2.414000	0.81942	0.594000	0.82650	GAG		0.458	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1		NM_012278		8	16	0	0	0	0.004482	0	8	16		
IL13RA1	3597	broad.mit.edu	37	X	117892057	117892057	+	Silent	SNP	C	C	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:117892057C>T	ENST00000371666.3	+	5	595	c.528C>T	c.(526-528)atC>atT	p.I176I	IL13RA1_ENST00000371642.1_Silent_p.I176I|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	176	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GTGAAAACATCTTTAGAGAAG	0.348																																						uc004eqs.2		NaN																	0					0						c.(526-528)ATC>ATT		interleukin 13 receptor, alpha 1 precursor							115.0	106.0	109.0					X																	117892057		2203	4300	6503	SO:0001819	synonymous_variant	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117892057C>T	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.528C>T	X.37:g.117892057C>T						IL13RA1_uc004eqr.1_Silent_p.I176I|IL13RA1_uc004eqt.1_Silent_p.I176I	p.I176I	NM_001560	NP_001551	P78552	I13R1_HUMAN			5	571	+			176			Extracellular (Potential).		O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	ENST00000371666.3	37	c.528C>T	CCDS14573.1																																																																																				0.348	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1		NM_001560		18	46	0	0	0	0.006122	0	18	46		
IL13RA1	3597	broad.mit.edu	37	X	117900535	117900535	+	Missense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:117900535G>A	ENST00000371666.3	+	7	938	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	291	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGAGAGAAATGTGGAGGTCAG	0.333																																						uc004eqs.2		NaN																	0					0						c.(871-873)GTG>ATG		interleukin 13 receptor, alpha 1 precursor							95.0	91.0	92.0					X																	117900535		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117900535G>A	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.871G>A	X.37:g.117900535G>A	ENSP00000360730:p.Val291Met					IL13RA1_uc004eqt.1_Missense_Mutation_p.V291M	p.V291M	NM_001560	NP_001551	P78552	I13R1_HUMAN			7	914	+			291			Extracellular (Potential).		O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.871G>A	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	G	0.908	-0.719898	0.03182	.	.	ENSG00000131724	ENST00000371666	D	0.86097	-2.07	3.93	-3.12	0.05282	Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.347650	0.01585	N	0.021299	T	0.60996	0.2312	N	0.01482	-0.84	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.53585	-0.8418	10	0.34782	T	0.22	1.4655	1.6053	0.02682	0.5233:0.1815:0.1567:0.1384	.	291;291	Q5JSL4;P78552	.;I13R1_HUMAN	M	291	ENSP00000360730:V291M	ENSP00000360730:V291M	V	+	1	0	IL13RA1	117784563	0.142000	0.22610	0.221000	0.23827	0.333000	0.28666	0.013000	0.13310	-0.685000	0.05177	-0.322000	0.08575	GTG		0.333	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1		NM_001560		22	32	0	0	0	0.00333	0	22	32		
DCAF12L2	340578	broad.mit.edu	37	X	125298848	125298848	+	Missense_Mutation	SNP	G	G	C			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:125298848G>C	ENST00000360028.2	-	1	1086	c.1060C>G	c.(1060-1062)Cgg>Ggg	p.R354G	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R354G			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	354										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCAGCGACCGCACGCCTGTG	0.637																																						uc004euk.1		NaN																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(1060-1062)CGG>GGG		DDB1 and CUL4 associated factor 12-like 2							47.0	51.0	50.0					X																	125298848		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298848G>C	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1060C>G	X.37:g.125298848G>C	ENSP00000353128:p.Arg354Gly						p.R354G	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	1087	-			354			WD 4.		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1060C>G	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175663	0.38413	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64085	-0.08;-0.08	4.05	3.18	0.36537	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36591	N	0.002511	T	0.67316	0.2880	M	0.84082	2.675	0.41796	D	0.989893	P	0.52577	0.954	P	0.48304	0.573	T	0.69749	-0.5061	10	0.48119	T	0.1	.	8.9606	0.35845	0.1144:0.0:0.8856:0.0	.	354	Q5VW00	DC122_HUMAN	G	354	ENSP00000441489:R354G;ENSP00000353128:R354G	ENSP00000353128:R354G	R	-	1	2	DCAF12L2	125126529	1.000000	0.71417	0.912000	0.35992	0.143000	0.21401	4.984000	0.63838	1.055000	0.40461	0.544000	0.68410	CGG		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1		NM_001013628		9	40	0	0	0	0.004482	0	9	40		
SMARCA1	6594	broad.mit.edu	37	X	128614761	128614761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:128614761G>A	ENST00000371122.4	-	19	2488	c.2359C>T	c.(2359-2361)Cag>Tag	p.Q787*	SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q775*|SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q775*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	787					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q787fs*25(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGAAAATCCTGAACATTTGGC	0.343																																						uc004eun.3		NaN																	1	Deletion - Frameshift(1)		breast(1)	ovary(3)|skin(1)	4						c.(2359-2361)CAG>TAG		SWI/SNF-related matrix-associated							62.0	63.0	63.0					X																	128614761		2203	4300	6503	SO:0001587	stop_gained	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128614761G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2359C>T	X.37:g.128614761G>A	ENSP00000360163:p.Gln787*					SMARCA1_uc004eup.3_Nonsense_Mutation_p.Q775*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.Q787*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.Q775*	p.Q787*	NM_003069	NP_003060	P28370	SMCA1_HUMAN			19	2472	-			787					Q5JV41|Q5JV42	Nonsense_Mutation	SNP	ENST00000371122.4	37	c.2359C>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	41	8.969427	0.99021	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.56	17.6491	0.88158	0.0:0.0:1.0:0.0	.	.	.	.	X	775;775;787;766	.	ENSP00000360162:Q775X	Q	-	1	0	SMARCA1	128442442	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.804000	0.99143	2.096000	0.63516	0.529000	0.55759	CAG		0.343	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1		NM_003069		13	12	0	0	0	0.00245	0	13	12		
TKTL1	8277	broad.mit.edu	37	X	153539540	153539541	+	Nonsense_Mutation	DNP	CA	CA	TT			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chrX:153539540_153539541CA>TT	ENST00000369915.3	+	5	810_811	c.621_622CA>TT	c.(619-624)caCAag>caTTag	p.K208*	TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Nonsense_Mutation_p.K152*	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	208					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTGAAGCACAAGCCCACTGC	0.589																																						uc004fkg.2		NaN																	0				ovary(3)|skin(1)	4						c.(619-621)CAC>CAT|c.(622-624)AAG>TAG		transketolase-like 1 isoform a																																				SO:0001587	stop_gained	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153539540C>T|g.chrX:153539541A>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	Exception_encountered	X.37:g.153539540_153539541delinsTT	ENSP00000358931:p.Lys208*					TKTL1_uc011mzl.1_Silent_p.H201H|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Silent_p.H151H|TKTL1_uc011mzl.1_Nonsense_Mutation_p.K202*|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Nonsense_Mutation_p.K152*	p.H207H|p.K208*	NM_012253	NP_036385	P51854	TKTL1_HUMAN			5	807|808	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		207|208					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent|Nonsense_Mutation	SNP	ENST00000369915.3	37	c.621C>T|c.622A>T	CCDS35448.1																																																																																				0.589	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1		NM_012253		25	82|83	0	0	0	0.003954	0	25	82		
ADAMTS8	11095	broad.mit.edu	37	11	130286913	130286925	+	Frame_Shift_Del	DEL	TGGTCCCGATGTC	TGGTCCCGATGTC	-	rs373747957		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr11:130286913_130286925delTGGTCCCGATGTC	ENST00000257359.6	-	3	1712_1724	c.1006_1018delGACATCGGGACCA	c.(1006-1020)gacatcgggaccattfs	p.DIGTI336fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	336	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGTCACAAATGGTCCCGATGTCTGCCACACCC	0.601																																						uc001qgg.3		NaN																	0				central_nervous_system(1)	1						c.(1006-1020)GACATCGGGACCATTfs		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001589	frameshift_variant	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130286913_130286925delTGGTCCCGATGTC	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1006_1018delGACATCGGGACCA	11.37:g.130286913_130286925delTGGTCCCGATGTC	ENSP00000257359:p.Asp336fs						p.D336fs	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	3	1364_1376	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	336_340			Peptidase M12B.		Q9NZS0	Frame_Shift_Del	DEL	ENST00000257359.6	37	c.1006_1018delGACATCGGGACCA	CCDS41732.1																																																																																				0.601	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1		NM_007037		8	136	NaN	NaN	NaN	NaN	NaN	8	136	---	---
RASSF3	283349	broad.mit.edu	37	12	65088574	65088583	+	Frame_Shift_Del	DEL	ATTTCTTGCG	ATTTCTTGCG	-	rs147804503		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:65088574_65088583delATTTCTTGCG	ENST00000542104.1	+	5	719_728	c.599_608delATTTCTTGCG	c.(598-609)aatttcttgcgcfs	p.NFLR200fs	RASSF3_ENST00000336061.2_Frame_Shift_Del_p.NFLR200fs	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	200	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		GAACTACAGAATTTCTTGCGCATCTTGGAC	0.481																																						uc001ssd.2		NaN																	0					0						c.(598-609)AATTTCTTGCGCfs		Ras association (RalGDS/AF-6) domain family																																				SO:0001589	frameshift_variant	283349				signal transduction	cytoplasm|microtubule	identical protein binding	g.chr12:65088574_65088583delATTTCTTGCG		CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.599_608delATTTCTTGCG	12.37:g.65088574_65088583delATTTCTTGCG	ENSP00000443021:p.Asn200fs					RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Frame_Shift_Del_p.N130fs	p.N200fs	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)	5	719_728	+			200_203			SARAH.		Q86WH1	Frame_Shift_Del	DEL	ENST00000542104.1	37	c.599_608delATTTCTTGCG	CCDS8969.1																																																																																				0.481	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1				14	74	NaN	NaN	NaN	NaN	NaN	14	74	---	---
CRY1	1407	broad.mit.edu	37	12	107393605	107393606	+	Frame_Shift_Ins	INS	-	-	T			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr12:107393605_107393606insT	ENST00000008527.5	-	7	1727_1728	c.860_861insA	c.(859-861)tatfs	p.Y287fs		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	287					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACAGTTGCCCATAAAGGGAAAG	0.351																																						uc001tmi.3		NaN																	0				ovary(3)	3						c.(859-861)TATfs		cryptochrome 1 (photolyase-like)																																				SO:0001589	frameshift_variant	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107393605_107393606insT	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.861dupA	12.37:g.107393606_107393606dupT	ENSP00000008527:p.Tyr287fs						p.Y287fs	NM_004075	NP_004066	Q16526	CRY1_HUMAN			7	1719_1720	-			287			FAD-binding.			Frame_Shift_Ins	INS	ENST00000008527.5	37	c.860_861insA	CCDS9112.1																																																																																				0.351	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1		NM_004075		19	55	NaN	NaN	NaN	NaN	NaN	19	55	---	---
PIPOX	51268	broad.mit.edu	37	17	27380490	27380490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:27380490delC	ENST00000323372.4	+	4	863	c.537delC	c.(535-537)aacfs	p.N179fs	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	179					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGGAGATAAACCCAGGGCTAC	0.542																																						uc002hdr.1		NaN																	0					0						c.(535-537)AACfs		pipecolic acid oxidase	Glycine(DB00145)						153.0	133.0	140.0					17																	27380490		2203	4300	6503	SO:0001589	frameshift_variant	51268				tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity	g.chr17:27380490delC	AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.537delC	17.37:g.27380490delC	ENSP00000317721:p.Asn179fs						p.N179fs	NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		4	863	+	Lung NSC(42;0.015)		179					B3KNH0|Q96H28|Q9C070	Frame_Shift_Del	DEL	ENST00000323372.4	37	c.537delC	CCDS11248.1																																																																																				0.542	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255954.1		NM_016518		7	90	NaN	NaN	NaN	NaN	NaN	7	90	---	---
KANSL1	284058	broad.mit.edu	37	17	44248783	44248783	+	Frame_Shift_Del	DEL	G	G	-	rs142096969	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:44248783delG	ENST00000262419.6	-	2	1197	c.727delC	c.(727-729)caafs	p.Q243fs	KANSL1_ENST00000575318.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.Q243fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	243					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q243E(2)									CTGCTTCCTTGAAGTGCCGGC	0.438																																						uc002ikb.2		NaN																	2	Substitution - Missense(2)		prostate(2)	skin(2)	2						c.(727-729)CAAfs		hypothetical protein LOC284058							97.0	122.0	114.0					17																	44248783		2203	4300	6503	SO:0001589	frameshift_variant	284058					MLL1 complex	protein binding	g.chr17:44248783delG	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.727delC	17.37:g.44248783delG	ENSP00000262419:p.Gln243fs					KIAA1267_uc002ikc.2_Frame_Shift_Del_p.Q243fs|KIAA1267_uc002ikd.2_Frame_Shift_Del_p.Q243fs|KIAA1267_uc010dav.2_Frame_Shift_Del_p.Q243fs	p.Q243fs	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			1	812	-		Melanoma(429;0.211)	243					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Del	DEL	ENST00000262419.6	37	c.727delC	CCDS11503.1																																																																																				0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1		NM_015443		12	138	NaN	NaN	NaN	NaN	NaN	12	138	---	---
KCNJ16	3773	broad.mit.edu	37	17	68129040	68129055	+	Frame_Shift_Del	DEL	TAGCCAAAGATAACTT	TAGCCAAAGATAACTT	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr17:68129040_68129055delTAGCCAAAGATAACTT	ENST00000589377.1	+	2	975_990	c.812_827delTAGCCAAAGATAACTT	c.(811-828)gtagccaaagataactttfs	p.VAKDNF271fs	KCNJ16_ENST00000585558.1_Frame_Shift_Del_p.VAKDNF306fs|KCNJ16_ENST00000392671.1_Frame_Shift_Del_p.VAKDNF271fs|KCNJ16_ENST00000283936.1_Frame_Shift_Del_p.VAKDNF271fs|KCNJ16_ENST00000586462.1_Frame_Shift_Del_p.VAKDNF310fs|KCNJ16_ENST00000392670.1_Frame_Shift_Del_p.VAKDNF271fs	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	271					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.D274Y(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CGCAAAGCAGTAGCCAAAGATAACTTTGAGATTTTG	0.449																																						uc002jin.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(811-828)GTAGCCAAAGATAACTTTfs		potassium inwardly-rectifying channel J16																																				SO:0001589	frameshift_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129040_68129055delTAGCCAAAGATAACTT	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.812_827delTAGCCAAAGATAACTT	17.37:g.68129040_68129055delTAGCCAAAGATAACTT	ENSP00000465967:p.Val271fs					KCNJ16_uc002jio.2_Frame_Shift_Del_p.V271fs|KCNJ16_uc002jip.2_Frame_Shift_Del_p.V271fs|KCNJ16_uc002jiq.2_Frame_Shift_Del_p.V303fs	p.V271fs	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	1298_1313	+	Breast(10;2.96e-09)		271_276			Cytoplasmic (By similarity).			Frame_Shift_Del	DEL	ENST00000589377.1	37	c.812_827delTAGCCAAAGATAACTT	CCDS11687.1																																																																																				0.449	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1		NM_018658		10	139	NaN	NaN	NaN	NaN	NaN	10	139	---	---
CEP68	23177	broad.mit.edu	37	2	65299062	65299073	+	In_Frame_Del	DEL	CTGCCAGATTCC	CTGCCAGATTCC	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:65299062_65299073delCTGCCAGATTCC	ENST00000377990.2	+	3	1035_1046	c.832_843delCTGCCAGATTCC	c.(832-843)ctgccagattccdel	p.LPDS278del	CEP68_ENST00000260569.4_In_Frame_Del_p.LPDS278del|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_In_Frame_Del_p.LPDS278del	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	278					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGCCTGTGTGCTGCCAGATTCCCTGCCTCCAT	0.594																																						uc002sdl.3		NaN																	0				skin(1)	1						c.(832-843)CTGCCAGATTCCdel		centrosomal protein 68kDa																																				SO:0001651	inframe_deletion	23177				centrosome organization	centrosome		g.chr2:65299062_65299073delCTGCCAGATTCC	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.832_843delCTGCCAGATTCC	2.37:g.65299062_65299073delCTGCCAGATTCC	ENSP00000367229:p.Leu278_Ser281del					CEP68_uc002sdj.2_In_Frame_Del_p.LPDS278del|CEP68_uc010yqb.1_In_Frame_Del_p.LPDS278del|CEP68_uc002sdk.3_In_Frame_Del_p.LPDS278del|CEP68_uc010yqc.1_In_Frame_Del_p.LPDS278del|CEP68_uc010yqd.1_In_Frame_Del_p.LPDS278del	p.LPDS278del	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			3	1046_1057	+			278_281					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	In_Frame_Del	DEL	ENST00000377990.2	37	c.832_843delCTGCCAGATTCC	CCDS1880.2																																																																																				0.594	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2		NM_015147		8	134	NaN	NaN	NaN	NaN	NaN	8	134	---	---
NAT8	9027	broad.mit.edu	37	2	73868318	73868337	+	Frame_Shift_Del	DEL	ACTGTCCACAAAGAGATGAA	ACTGTCCACAAAGAGATGAA	-	rs13538	byFrequency	TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:73868318_73868337delACTGTCCACAAAGAGATGAA	ENST00000272425.3	-	2	568_587	c.419_438delTTCATCTCTTTGTGGACAGT	c.(418-438)tttcatctctttgtggacagtfs	p.FHLFVDS140fs		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.V144A(1)|p.L142V(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GACGGTGCTCACTGTCCACAAAGAGATGAAACAGCTGCAA	0.568																																						uc002sji.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(418-438)TTTCATCTCTTTGTGGACAGTfs		N-acetyltransferase 8																																				SO:0001589	frameshift_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868318_73868337delACTGTCCACAAAGAGATGAA	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.419_438delTTCATCTCTTTGTGGACAGT	2.37:g.73868318_73868337delACTGTCCACAAAGAGATGAA	ENSP00000272425:p.Phe140fs						p.F140fs	NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN			2	586_605	-			140_146			N-acetyltransferase.			Frame_Shift_Del	DEL	ENST00000272425.3	37	c.419_438delTTCATCTCTTTGTGGACAGT	CCDS1926.1																																																																																				0.568	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1		NM_003960		8	76	NaN	NaN	NaN	NaN	NaN	8	76	---	---
GCC2	9648	broad.mit.edu	37	2	109086923	109086924	+	Frame_Shift_Ins	INS	-	-	G	rs574072336		TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr2:109086923_109086924insG	ENST00000309863.6	+	6	1852_1853	c.1138_1139insG	c.(1138-1140)cggfs	p.R380fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	380					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTTCATGAACGGGAAGACTTA	0.282																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(1138-1140)CGGfs		GRIP and coiled-coil domain-containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086923_109086924insG	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1141dupG	2.37:g.109086926_109086926dupG	ENSP00000307939:p.Arg380fs					GCC2_uc002ted.2_Frame_Shift_Ins_p.R279fs	p.R380fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	1292_1293	+			380			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Ins	INS	ENST00000309863.6	37	c.1138_1139insG	CCDS33268.1																																																																																				0.282	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		35	78	NaN	NaN	NaN	NaN	NaN	35	78	---	---
OR2A12	346525	broad.mit.edu	37	7	143793122	143793127	+	In_Frame_Del	DEL	AGATCA	AGATCA	-			TCGA-K4-A3WS-01A-11D-A22Z-08	TCGA-K4-A3WS-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98d6bf3c-c9bf-484e-bd1e-b610b255e9a7	0c62c49c-bd98-458e-b702-33bf067420f8	g.chr7:143793122_143793127delAGATCA	ENST00000408949.2	+	1	982_987	c.922_927delAGATCA	c.(922-927)agatcadel	p.RS308del		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R308R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTGGAAACAGAGATCAATGTGAAGAA	0.427																																						uc011kty.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(922-927)AGATCAdel		olfactory receptor, family 2, subfamily A,																																				SO:0001651	inframe_deletion	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793122_143793127delAGATCA		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.922_927delAGATCA	7.37:g.143793122_143793127delAGATCA	ENSP00000386174:p.Arg308_Ser309del						p.RS308del	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	922_927	+	Melanoma(164;0.0783)		308_309			Cytoplasmic (Potential).		Q6IF43	In_Frame_Del	DEL	ENST00000408949.2	37	c.922_927delAGATCA	CCDS43670.1																																																																																				0.427	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1				7	141	NaN	NaN	NaN	NaN	NaN	7	141	---	---
