#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
KLHL17	339451	broad.mit.edu	37	1	897016	897016	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:897016G>A	ENST00000338591.3	+	3	482	c.375G>A	c.(373-375)atG>atA	p.M125I	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	125	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGATGAGATGAGCGAGAGCC	0.657																																						uc001aca.1		NaN																	0					0						c.(373-375)ATG>ATA		kelch-like 17							82.0	79.0	80.0					1																	897016		2203	4299	6502	SO:0001583	missense	339451				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold	g.chr1:897016G>A	AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.375G>A	1.37:g.897016G>A	ENSP00000343930:p.Met125Ile					NOC2L_uc001abz.3_5'Flank|NOC2L_uc009vjq.2_5'Flank|NOC2L_uc009vjr.1_5'Flank|KLHL17_uc001acb.1_Missense_Mutation_p.M1I|KLHL17_uc010nya.1_Missense_Mutation_p.M1I|KLHL17_uc001acc.1_5'Flank|KLHL17_uc010nyb.1_5'Flank	p.M125I	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	482	+	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	125			BTB.		Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	c.375G>A	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382856	0.82792	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	T	0.71341	-0.56	4.71	4.71	0.59529	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84911	0.5577	M	0.82056	2.57	0.80722	D	1	D;P;P	0.69078	0.997;0.854;0.705	D;D;P	0.79108	0.992;0.949;0.785	D	0.87346	0.2334	10	0.72032	D	0.01	.	18.0411	0.89319	0.0:0.0:1.0:0.0	.	1;1;125	B3KXL7;Q86XA8;Q6TDP4	.;.;KLH17_HUMAN	I	125;1	ENSP00000343930:M125I	ENSP00000343930:M125I	M	+	3	0	KLHL17	886879	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.630000	0.98420	2.349000	0.79799	0.491000	0.48974	ATG		0.657	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3		NM_198317		16	5	0	0	0	0.146539	0	16	5		
TMEM57	55219	broad.mit.edu	37	1	25810749	25810749	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:25810749G>A	ENST00000374343.4	+	7	1476	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	TMEM57_ENST00000399763.3_Missense_Mutation_p.E75K|TMEM57_ENST00000399766.3_Missense_Mutation_p.E206K	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	433					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGAGAACGAGCTGCTGCA	0.572																																						uc001bkk.2		NaN																	0					0						c.(1297-1299)GAG>AAG		transmembrane protein 57							56.0	55.0	55.0					1																	25810749		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25810749G>A	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1297G>A	1.37:g.25810749G>A	ENSP00000363463:p.Glu433Lys					TMEM57_uc009vru.2_Missense_Mutation_p.E206K|TMEM57_uc009vrv.2_Missense_Mutation_p.E75K	p.E433K	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	7	1499	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	433					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1297G>A	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	35	5.580860	0.96565	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;D;T	0.84516	1.59;-1.86;2.59	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.92916	0.7746	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.80764	0.994;0.929;0.929	D	0.92339	0.5880	10	0.54805	T	0.06	-16.3013	19.5634	0.95382	0.0:0.0:1.0:0.0	.	75;206;433	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	K	206;75;433	ENSP00000382668:E206K;ENSP00000382666:E75K;ENSP00000363463:E433K	ENSP00000363463:E433K	E	+	1	0	TMEM57	25683336	1.000000	0.71417	0.995000	0.50966	0.896000	0.52359	9.447000	0.97595	2.868000	0.98415	0.557000	0.71058	GAG		0.572	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2		NM_018202		7	47	0	0	0	0.27861	0	7	47		
MANEAL	149175	broad.mit.edu	37	1	38265863	38265863	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:38265863G>T	ENST00000373045.6	+	4	1743	c.1362G>T	c.(1360-1362)caG>caT	p.Q454H	RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.Q232H|MANEAL_ENST00000525897.1_Missense_Mutation_p.Q260H|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	454						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAAGGAGCAGTGGCTCATGT	0.587																																						uc001cby.2		NaN																	0					0						c.(1360-1362)CAG>CAT		mannosidase, endo-alpha-like isoform 3							41.0	46.0	44.0					1																	38265863		2197	4292	6489	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265863G>T	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1362G>T	1.37:g.38265863G>T	ENSP00000362136:p.Gln454His					MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Missense_Mutation_p.Q232H	p.Q454H	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN			4	1443	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	454			Lumenal (Potential).		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1362G>T	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.233786	0.39498	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	2.24	0.28232	.	0.153395	0.64402	D	0.000012	T	0.35970	0.0950	N	0.25144	0.715	0.49798	D	0.99982	P;B	0.36249	0.545;0.261	B;B	0.35073	0.195;0.063	T	0.20405	-1.0276	9	0.48119	T	0.1	-26.6566	10.8027	0.46497	0.2564:0.0:0.7436:0.0	.	232;454	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	H	454;260;232	.	ENSP00000328770:Q232H	Q	+	3	2	MANEAL	38038450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.012000	0.40932	0.723000	0.32274	0.655000	0.94253	CAG		0.587	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2		NM_152496		16	122	1	0	1.99824e-07	0.160694	2.11934e-07	16	122		
INPP5B	3633	broad.mit.edu	37	1	38332195	38332195	+	Silent	SNP	T	T	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:38332195T>A	ENST00000373026.1	-	20	2562	c.2562A>T	c.(2560-2562)ccA>ccT	p.P854P	INPP5B_ENST00000373027.1_Silent_p.P610P|INPP5B_ENST00000373023.2_Silent_p.P854P|INPP5B_ENST00000373024.3_Silent_p.P774P			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	854	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTCAGGCCTGGTTGCTGAA	0.398																																						uc001ccg.1		NaN																	0				urinary_tract(1)	1						c.(2320-2322)CCA>CCT		inositol polyphosphate-5-phosphatase, 75kDa							91.0	84.0	86.0					1																	38332195		1914	4128	6042	SO:0001819	synonymous_variant	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38332195T>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2562A>T	1.37:g.38332195T>A						INPP5B_uc009vvk.1_Intron|INPP5B_uc001ccf.1_Silent_p.P610P	p.P774P	NM_005540	NP_005531	P32019	I5P2_HUMAN			21	2416	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	854			Rho-GAP.		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	ENST00000373026.1	37	c.2322A>T																																																																																					0.398	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1		NM_005540		16	118	0	0	0	0.175082	0	16	118		
FOXE3	2301	broad.mit.edu	37	1	47882237	47882237	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:47882237C>G	ENST00000335071.2	+	1	494	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	84					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		CGCCATGGCTCTGGCGCACGC	0.756																																						uc001crk.2		NaN																	0					0						c.(250-252)CTG>GTG		forkhead box E3							13.0	13.0	13.0					1																	47882237		2183	4248	6431	SO:0001583	missense	2301				cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:47882237C>G	AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.250C>G	1.37:g.47882237C>G	ENSP00000334472:p.Leu84Val						p.L84V	NM_012186	NP_036318	Q13461	FOXE3_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	494	+			84			Fork-head.		Q5SVY9|Q9NQV9	Missense_Mutation	SNP	ENST00000335071.2	37	c.250C>G	CCDS550.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802909	0.31869	.	.	ENSG00000186790	ENST00000335071	D	0.96745	-4.11	3.07	-1.08	0.09936	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	.	.	.	.	D	0.94863	0.8340	L	0.42245	1.32	0.31636	N	0.648429	P	0.41131	0.739	P	0.49361	0.608	D	0.92348	0.5887	9	0.72032	D	0.01	.	10.1177	0.42601	0.7457:0.2543:0.0:0.0	.	84	Q13461	FOXE3_HUMAN	V	84	ENSP00000334472:L84V	ENSP00000334472:L84V	L	+	1	2	FOXE3	47654824	0.921000	0.31238	0.532000	0.27989	0.007000	0.05969	1.936000	0.40183	0.006000	0.14734	-0.459000	0.05422	CTG		0.756	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021836.1		NM_012186		9	22	0	0	0	0.307466	0	9	22		
ROR1	4919	broad.mit.edu	37	1	64605962	64605962	+	Nonsense_Mutation	SNP	C	C	T	rs182196435		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:64605962C>T	ENST00000371079.1	+	6	1156	c.781C>T	c.(781-783)Caa>Taa	p.Q261*	ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Nonsense_Mutation_p.Q261*|ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	261	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TGTCCTGTGTCAAACAGAGTA	0.498																																						uc001dbj.2		NaN																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(781-783)CAA>TAA		receptor tyrosine kinase-like orphan receptor 1							115.0	110.0	112.0					1																	64605962		2203	4300	6503	SO:0001587	stop_gained	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64605962C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.781C>T	1.37:g.64605962C>T	ENSP00000360120:p.Gln261*					ROR1_uc001dbi.3_Nonsense_Mutation_p.Q261*|uc001dbl.2_Intron	p.Q261*	NM_005012	NP_005003	Q01973	ROR1_HUMAN			6	1180	+			261			FZ.|Extracellular (Potential).		Q5VVX6|Q66K77|Q92776	Nonsense_Mutation	SNP	ENST00000371079.1	37	c.781C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	39	7.536749	0.98345	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	.	.	.	5.92	5.92	0.95590	.	0.181563	0.26317	N	0.025069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	.	.	.	X	261;261;264	.	ENSP00000360120:Q261X	Q	+	1	0	ROR1	64378550	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.256000	0.51492	2.822000	0.97130	0.650000	0.86243	CAA		0.498	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1		NM_005012		83	81	0	0	0	0.323286	0	83	81		
MTF2	22823	broad.mit.edu	37	1	93602319	93602319	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:93602319G>C	ENST00000370298.4	+	15	1806	c.1517G>C	c.(1516-1518)aGa>aCa	p.R506T	MTF2_ENST00000540243.1_Missense_Mutation_p.R404T|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Missense_Mutation_p.R449T|MTF2_ENST00000545708.1_Missense_Mutation_p.R404T	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	506					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTTCCAAGAAGAGCACTCCAG	0.403																																						uc009wdj.2		NaN																	0				ovary(2)	2						c.(1516-1518)AGA>ACA		metal response element binding transcription							94.0	90.0	92.0					1																	93602319		2203	4300	6503	SO:0001583	missense	22823					nucleus	DNA binding|zinc ion binding	g.chr1:93602319G>C	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1517G>C	1.37:g.93602319G>C	ENSP00000359321:p.Arg506Thr					MTF2_uc010oth.1_Missense_Mutation_p.R404T|MTF2_uc009wdk.2_Missense_Mutation_p.R449T|MTF2_uc001dpi.3_Missense_Mutation_p.R233T|MTF2_uc010oti.1_Missense_Mutation_p.R404T|MTF2_uc001dpj.3_Missense_Mutation_p.R404T|MTF2_uc001dpl.3_Missense_Mutation_p.R404T|MTF2_uc001dpm.3_Missense_Mutation_p.R175T	p.R506T	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)	15	1809	+		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)	506					A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	c.1517G>C	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061036	0.36373	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.32988	1.43;1.43;1.83;1.74	5.7	4.69	0.59074	.	0.148049	0.64402	D	0.000011	T	0.08358	0.0208	N	0.19112	0.55	0.52501	D	0.999957	B;B;B	0.29835	0.023;0.258;0.134	B;B;B	0.29524	0.012;0.103;0.064	T	0.10451	-1.0629	10	0.29301	T	0.29	-10.3749	6.8518	0.24018	0.1976:0.0:0.8024:0.0	.	449;506;404	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	T	404;404;506;449	ENSP00000444962:R404T;ENSP00000443295:R404T;ENSP00000359321:R506T;ENSP00000359326:R449T	ENSP00000359321:R506T	R	+	2	0	MTF2	93374907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.126000	0.64721	2.696000	0.92011	0.655000	0.94253	AGA		0.403	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3		NM_007358		33	59	0	0	0	0.203993	0	33	59		
HIAT1	64645	broad.mit.edu	37	1	100534050	100534050	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:100534050G>C	ENST00000370152.3	+	7	863	c.727G>C	c.(727-729)Gat>Cat	p.D243H	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	243					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AGTCGGCCAAGATTCCATAGT	0.383																																						uc001dst.2		NaN																	0					0						c.(727-729)GAT>CAT		hippocampus abundant transcript 1							147.0	143.0	144.0					1																	100534050		2203	4300	6503	SO:0001583	missense	64645				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100534050G>C	AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.727G>C	1.37:g.100534050G>C	ENSP00000359171:p.Asp243His						p.D243H	NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	7	727	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	243			Extracellular (Potential).		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	ENST00000370152.3	37	c.727G>C	CCDS763.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954256	0.92726	.	.	ENSG00000156875	ENST00000370152	T	0.59772	0.24	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76737	0.4029	M	0.91196	3.185	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.73767	-0.3879	10	0.19147	T	0.46	-24.5724	20.3409	0.98764	0.0:0.0:1.0:0.0	.	243	Q96MC6	HIAT1_HUMAN	H	243	ENSP00000359171:D243H	ENSP00000359171:D243H	D	+	1	0	HIAT1	100306638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.814000	0.96858	0.655000	0.94253	GAT		0.383	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1		NM_033055		28	66	0	0	0	0.153744	0	28	66		
COL11A1	1301	broad.mit.edu	37	1	103431095	103431095	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:103431095C>T	ENST00000370096.3	-	38	3176	c.2864G>A	c.(2863-2865)gGa>gAa	p.G955E	COL11A1_ENST00000353414.4_Splice_Site_p.G916E|COL11A1_ENST00000358392.2_Splice_Site_p.G967E|COL11A1_ENST00000512756.1_Splice_Site_p.G839E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	955	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTGAAATCCCTAAGGAGG	0.388																																						uc001dul.2		NaN																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2863-2865)GGA>GAA		alpha 1 type XI collagen isoform A							85.0	96.0	92.0					1																	103431095		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103431095C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2863-1G>A	1.37:g.103431095C>T						COL11A1_uc001duk.2_Missense_Mutation_p.G151E|COL11A1_uc001dum.2_Missense_Mutation_p.G967E|COL11A1_uc001dun.2_Missense_Mutation_p.G916E|COL11A1_uc009weh.2_Missense_Mutation_p.G839E	p.G955E	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	38	3182	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	955			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2864G>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914177	0.72983	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.45	5.45	0.79879	.	0.058611	0.64402	D	0.000002	D	0.99859	0.9934	H	0.98446	4.235	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.999;0.998;0.998	D	0.96549	0.9406	10	0.87932	D	0	.	19.2878	0.94085	0.0:1.0:0.0:0.0	.	839;916;967;955;175	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	955;967;916;175;839	ENSP00000359114:G955E;ENSP00000351163:G967E;ENSP00000302551:G916E;ENSP00000426533:G839E	ENSP00000302551:G916E	G	-	2	0	COL11A1	103203683	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.717000	0.84732	2.555000	0.86185	0.557000	0.71058	GGA		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1		NM_080630	Missense_Mutation	53	72	0	0	0	0.323286	0	53	72		
PSRC1	84722	broad.mit.edu	37	1	109824459	109824459	+	Missense_Mutation	SNP	C	C	T	rs144416204		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:109824459C>T	ENST00000438534.2	-	4	439	c.301G>A	c.(301-303)Gag>Aag	p.E101K	PSRC1_ENST00000369904.3_Missense_Mutation_p.E101K|PSRC1_ENST00000409138.2_Missense_Mutation_p.E101K|PSRC1_ENST00000409267.1_Missense_Mutation_p.E101K|PSRC1_ENST00000369907.3_Missense_Mutation_p.E101K|PSRC1_ENST00000369903.2_Missense_Mutation_p.E101K|PSRC1_ENST00000369909.2_Missense_Mutation_p.E101K	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	101					microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCCAGGCCCTCGCCTGCGCTC	0.647																																						uc001dxg.2		NaN																	0					0						c.(301-303)GAG>AAG		proline/serine-rich coiled-coil 1 isoform c		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	33.0	37.0	35.0		301,301,301	2.8	0.0	1	dbSNP_134	35	0,8600		0,0,4300	no	missense,missense,missense	PSRC1	NM_001005290.3,NM_001032291.2,NM_032636.7	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	101/311,101/334,101/334	109824459	1,13005	2203	4300	6503	SO:0001583	missense	84722				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	g.chr1:109824459C>T		CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.301G>A	1.37:g.109824459C>T	ENSP00000413591:p.Glu101Lys					PSRC1_uc001dxb.2_5'UTR|PSRC1_uc001dxc.2_Missense_Mutation_p.E101K|PSRC1_uc001dxd.2_Missense_Mutation_p.E101K|PSRC1_uc001dxe.2_Missense_Mutation_p.E101K|PSRC1_uc001dxf.2_Missense_Mutation_p.E101K|PSRC1_uc001dxh.2_Missense_Mutation_p.E101K|PSRC1_uc001dxi.2_Missense_Mutation_p.E101K|PSRC1_uc001dxj.2_Missense_Mutation_p.E101K	p.E101K	NM_001032290	NP_001027461	Q6PGN9	PSRC1_HUMAN		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)	4	423	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	101					Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Missense_Mutation	SNP	ENST00000438534.2	37	c.301G>A		.	.	.	.	.	.	.	.	.	.	C	15.12	2.737776	0.49045	2.27E-4	0.0	ENSG00000134222	ENST00000369904;ENST00000409267;ENST00000369907;ENST00000438534;ENST00000369909;ENST00000369903;ENST00000429031;ENST00000418914	T;T;T;T;T	0.50277	0.77;0.77;0.75;0.77;0.77	5.74	2.75	0.32379	.	0.990599	0.08212	N	0.980590	T	0.17789	0.0427	L	0.55990	1.75	0.09310	N	1	P;P;P	0.42456	0.655;0.78;0.655	B;B;B	0.34652	0.063;0.187;0.063	T	0.16630	-1.0396	10	0.32370	T	0.25	-0.0993	4.7446	0.13031	0.1479:0.611:0.1585:0.0826	.	101;101;101	Q6PGN9;Q6PGN9-3;Q6PGN9-2	PSRC1_HUMAN;.;.	K	101	ENSP00000386323:E101K;ENSP00000358923:E101K;ENSP00000413591:E101K;ENSP00000358925:E101K;ENSP00000358919:E101K	ENSP00000358919:E101K	E	-	1	0	PSRC1	109625982	0.000000	0.05858	0.005000	0.12908	0.124000	0.20399	0.401000	0.20948	0.307000	0.22880	0.561000	0.74099	GAG		0.647	PSRC1-202	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335567.3		NM_032636		19	23	0	0	0	0.234183	0	19	23		
C1orf43	25912	broad.mit.edu	37	1	154180113	154180113	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:154180113C>T	ENST00000368521.5	-	7	776	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	C1orf43_ENST00000483282.1_5'UTR|C1orf189_ENST00000368525.3_5'Flank|C1orf43_ENST00000350592.3_Missense_Mutation_p.R159Q|C1orf43_ENST00000368519.1_Missense_Mutation_p.R175Q|C1orf43_ENST00000362076.4_Missense_Mutation_p.R141Q	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	193						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCTCCCAATTCGTGCTTTAAC	0.507																																						uc001fei.2		NaN																	0					0						c.(577-579)CGA>CAA		hypothetical protein LOC25912 isoform 3							165.0	147.0	153.0					1																	154180113		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154180113C>T	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.578G>A	1.37:g.154180113C>T	ENSP00000357507:p.Arg193Gln					C1orf189_uc001fee.1_5'Flank|C1orf43_uc001fef.1_Missense_Mutation_p.R90Q|C1orf43_uc001feg.2_Missense_Mutation_p.R159Q|C1orf43_uc001feh.2_Missense_Mutation_p.R141Q|C1orf43_uc001fej.2_Missense_Mutation_p.R175Q|C1orf43_uc009wos.1_3'UTR	p.R193Q	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN			7	968	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		193					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.578G>A	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619660	0.46736	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519	.	.	.	5.37	5.37	0.77165	Dehydrogenase, multihelical (1);	0.137943	0.49305	D	0.000149	T	0.37919	0.1021	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.25007	0.116;0.038;0.012;0.07	B;B;B;B	0.15052	0.012;0.007;0.002;0.005	T	0.31861	-0.9928	9	0.54805	T	0.06	-14.4421	18.2906	0.90129	0.0:1.0:0.0:0.0	.	159;193;141;159	Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;CA043_HUMAN;.;.	Q	159;193;141;175	.	ENSP00000271925:R159Q	R	-	2	0	C1orf43	152446737	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	4.676000	0.61627	2.788000	0.95919	0.650000	0.86243	CGA		0.507	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2		NM_015449		20	64	0	0	0	0.294199	0	20	64		
RGS5	8490	broad.mit.edu	37	1	163131761	163131761	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:163131761G>C	ENST00000313961.5	-	3	438	c.161C>G	c.(160-162)tCg>tGg	p.S54W	RGS5_ENST00000367903.3_Missense_Mutation_p.S74W|RGS5_ENST00000534288.1_5'UTR|RGS5_ENST00000530507.1_Missense_Mutation_p.S54W|RGS5_ENST00000527988.1_Intron|RP11-267N12.1_ENST00000415437.1_RNA	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	54					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CTCGTCCAGCGAGGTTCTACA	0.428																																						uc001gcn.2		NaN																	0					0						c.(160-162)TCG>TGG		regulator of G-protein signalling 5							87.0	87.0	87.0					1																	163131761		2203	4300	6503	SO:0001583	missense	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163131761G>C	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.161C>G	1.37:g.163131761G>C	ENSP00000319308:p.Ser54Trp					RGS5_uc009wvb.2_Intron	p.S54W	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		3	408	-			54					E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	ENST00000313961.5	37	c.161C>G	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165023	0.78339	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000531476	T;T;T;T	0.66995	-0.24;-0.24;-0.24;4.22	5.2	3.1	0.35709	Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.315979	0.34291	N	0.004085	T	0.73659	0.3615	M	0.84326	2.69	0.45515	D	0.998472	D	0.58268	0.982	D	0.69654	0.965	T	0.77803	-0.2451	9	0.87932	D	0	.	9.9769	0.41789	0.1815:0.0:0.8185:0.0	.	54	O15539	RGS5_HUMAN	W	54;74;54;17	ENSP00000319308:S54W;ENSP00000356879:S74W;ENSP00000433001:S54W;ENSP00000435861:S17W	ENSP00000319308:S54W	S	-	2	0	RGS5	161398385	0.983000	0.35010	0.338000	0.25549	0.489000	0.33432	3.141000	0.50593	0.732000	0.32470	0.655000	0.94253	TCG		0.428	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1		NM_003617		6	48	0	0	0	0.307466	0	6	48		
POGK	57645	broad.mit.edu	37	1	166818581	166818581	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:166818581G>A	ENST00000367875.1	+	5	1125	c.765G>A	c.(763-765)aaG>aaA	p.K255K	POGK_ENST00000536514.1_Silent_p.K170K|POGK_ENST00000367876.4_Silent_p.K255K|POGK_ENST00000537173.1_Silent_p.K137K			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	255	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GAGGCCCCAAGAATGGGAGGT	0.567																																					GBM(76;192 1530 30153 48742)	uc001gdt.1		NaN																	0				ovary(1)	1						c.(763-765)AAG>AAA		pogo transposable element with KRAB domain							37.0	40.0	39.0					1																	166818581		2203	4300	6503	SO:0001819	synonymous_variant	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818581G>A	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.765G>A	1.37:g.166818581G>A						POGK_uc010ple.1_Silent_p.K170K|POGK_uc010plf.1_Silent_p.K137K	p.K255K	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	885	+			255			HTH CENPB-type.		Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	c.765G>A	CCDS1254.1																																																																																				0.567	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1		NM_017542		29	21	0	0	0	0.173368	0	29	21		
POU2F1	5451	broad.mit.edu	37	1	167365643	167365643	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:167365643G>C	ENST00000541643.3	+	11	1201	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	POU2F1_ENST00000420254.3_Missense_Mutation_p.E347Q|POU2F1_ENST00000429375.2_Missense_Mutation_p.E307Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.E370Q|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.E359Q			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	347	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCCACTTTTAGAGAAGTGGCT	0.368																																						uc001gec.2		NaN																	0				central_nervous_system(2)|skin(2)|breast(1)	5						c.(1039-1041)GAG>CAG		POU class 2 homeobox 1							135.0	130.0	131.0					1																	167365643		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167365643G>C	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1039G>C	1.37:g.167365643G>C	ENSP00000441285:p.Glu347Gln					POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.E345Q|POU2F1_uc001gee.2_Missense_Mutation_p.E347Q|POU2F1_uc010plh.1_Missense_Mutation_p.E284Q|POU2F1_uc001gef.2_Missense_Mutation_p.E359Q|POU2F1_uc001geg.2_Missense_Mutation_p.E245Q|POU2F1_uc009wvg.1_5'Flank	p.E347Q	NM_002697	NP_002688	P14859	PO2F1_HUMAN			11	1201	+			347			POU-specific.		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1039G>C		.	.	.	.	.	.	.	.	.	.	G	19.94	3.920474	0.73213	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	6.17	6.17	0.99709	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	L	0.28694	0.88	0.80722	D	1	D;B;D;D;D	0.65815	0.995;0.154;0.993;0.993;0.995	D;B;D;D;D	0.72982	0.979;0.319;0.947;0.964;0.969	T	0.64516	-0.6389	10	0.34782	T	0.22	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	307;347;359;345;347	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	Q	370;307;345;347;347;359;255	ENSP00000356840:E370Q;ENSP00000401217:E307Q;ENSP00000356839:E345Q;ENSP00000414660:E347Q;ENSP00000441285:E347Q;ENSP00000356836:E359Q;ENSP00000415993:E255Q	ENSP00000356836:E359Q	E	+	1	0	POU2F1	165632267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG		0.368	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_002697		26	78	0	0	0	0.144211	0	26	78		
PRRX1	5396	broad.mit.edu	37	1	170688895	170688895	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:170688895G>T	ENST00000239461.6	+	2	583	c.270G>T	c.(268-270)aaG>aaT	p.K90N	PRRX1_ENST00000367760.3_Missense_Mutation_p.K90N|PRRX1_ENST00000497230.2_Missense_Mutation_p.K90N	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	90					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGAAAAAAAGAAGAGAAAGC	0.433																																						uc001ghf.2		NaN																	0				ovary(1)	1						c.(268-270)AAG>AAT		paired mesoderm homeobox 1 isoform pmx-1b							61.0	57.0	58.0					1																	170688895		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170688895G>T	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.270G>T	1.37:g.170688895G>T	ENSP00000239461:p.Lys90Asn					PRRX1_uc001ghe.2_Missense_Mutation_p.K90N	p.K90N	NM_022716	NP_073207	P54821	PRRX1_HUMAN			2	317	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		90					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.270G>T	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924974	0.52759	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.11	2.22	0.28083	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	N	0.19112	0.55	0.80722	D	1	P;P	0.50528	0.808;0.936	B;P	0.50192	0.227;0.634	D	0.84953	0.0872	10	0.38643	T	0.18	.	7.9192	0.29835	0.3287:0.0:0.6713:0.0	.	90;90	P54821;P54821-2	PRRX1_HUMAN;.	N	43;90;90;90	ENSP00000451943:K43N;ENSP00000356734:K90N;ENSP00000239461:K90N;ENSP00000450762:K90N	ENSP00000239461:K90N	K	+	3	2	PRRX1	168955519	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.946000	0.49050	0.180000	0.19960	0.655000	0.94253	AAG		0.433	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3		NM_006902		7	22	1	0	5.18039e-06	0.27861	5.38556e-06	7	22		
PRRX1	5396	broad.mit.edu	37	1	170688965	170688965	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:170688965G>A	ENST00000239461.6	+	2	653	c.340G>A	c.(340-342)Gag>Aag	p.E114K	PRRX1_ENST00000367760.3_Missense_Mutation_p.E114K|PRRX1_ENST00000497230.2_Missense_Mutation_p.E114K	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	114					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCGTGTCTTTGAGCGGACACA	0.522																																						uc001ghf.2		NaN																	0				ovary(1)	1						c.(340-342)GAG>AAG		paired mesoderm homeobox 1 isoform pmx-1b							118.0	105.0	109.0					1																	170688965		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170688965G>A	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.340G>A	1.37:g.170688965G>A	ENSP00000239461:p.Glu114Lys					PRRX1_uc001ghe.2_Missense_Mutation_p.E114K	p.E114K	NM_022716	NP_073207	P54821	PRRX1_HUMAN			2	387	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		114			Homeobox.		B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.340G>A	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150694	0.94645	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.91815	0.7410	N	0.20766	0.605	0.80722	D	1	P;P	0.46784	0.884;0.762	P;B	0.48552	0.581;0.298	D	0.93801	0.7101	10	0.87932	D	0	.	17.5667	0.87922	0.0:0.0:1.0:0.0	.	114;114	P54821;P54821-2	PRRX1_HUMAN;.	K	67;114;114;114	ENSP00000451943:E67K;ENSP00000356734:E114K;ENSP00000239461:E114K;ENSP00000450762:E114K	ENSP00000239461:E114K	E	+	1	0	PRRX1	168955589	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	4.679000	0.61649	2.463000	0.83235	0.655000	0.94253	GAG		0.522	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3		NM_006902		15	65	0	0	0	0.204396	0	15	65		
CEP350	9857	broad.mit.edu	37	1	179965793	179965793	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:179965793G>A	ENST00000367607.3	+	6	919	c.501G>A	c.(499-501)atG>atA	p.M167I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	167					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTAACTGGATGATAGGCAGTC	0.418																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(499-501)ATG>ATA		centrosome-associated protein 350							78.0	69.0	72.0					1																	179965793		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179965793G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.501G>A	1.37:g.179965793G>A	ENSP00000356579:p.Met167Ile					CEP350_uc001gnr.1_Missense_Mutation_p.M141I|CEP350_uc009wxl.2_Missense_Mutation_p.M166I|CEP350_uc001gnu.2_Missense_Mutation_p.M1I	p.M167I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			6	884	+			167					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.501G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386121	0.42308	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	T;T	0.56103	0.48;0.98	5.55	4.62	0.57501	.	0.606698	0.15261	N	0.271790	T	0.40372	0.1114	L	0.27053	0.805	0.09310	N	1	B;B;B	0.19200	0.0;0.0;0.034	B;B;B	0.16289	0.001;0.0;0.015	T	0.17623	-1.0363	9	.	.	.	.	14.3136	0.66432	0.0:0.1488:0.8512:0.0	.	167;167;141	E7EU22;Q5VT06;E9PIK0	.;CE350_HUMAN;.	I	167;141	ENSP00000356579:M167I;ENSP00000435808:M141I	.	M	+	3	0	CEP350	178232416	0.527000	0.26306	0.003000	0.11579	0.001000	0.01503	1.801000	0.38843	1.314000	0.45095	-0.302000	0.09304	ATG		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		19	15	0	0	0	0.189662	0	19	15		
CDC42BPA	8476	broad.mit.edu	37	1	227307535	227307535	+	Silent	SNP	C	C	T	rs371811786		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:227307535C>T	ENST00000366769.3	-	12	2908	c.1617G>A	c.(1615-1617)acG>acA	p.T539T	CDC42BPA_ENST00000334218.5_Silent_p.T539T|CDC42BPA_ENST00000535525.1_Silent_p.T539T|CDC42BPA_ENST00000366766.2_Silent_p.T539T|CDC42BPA_ENST00000366765.3_Silent_p.T539T|CDC42BPA_ENST00000366767.3_Silent_p.T539T|CDC42BPA_ENST00000366764.2_Silent_p.T539T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTTGTTGTAACGTTTTGATTT	0.308													C|||	1	0.000199681	0.0	0.0	5008	,	,		16157	0.0		0.0	False		,,,				2504	0.001					uc001hqr.2		NaN																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(1615-1617)ACG>ACA		CDC42-binding protein kinase alpha isoform B		C	,	1,4403	2.1+/-5.4	0,1,2201	122.0	122.0	122.0		1617,1617	-10.7	0.0	1		122	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	CDC42BPA	NM_003607.3,NM_014826.4	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	539/1720,539/1639	227307535	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227307535C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1617G>A	1.37:g.227307535C>T						CDC42BPA_uc001hqs.2_Silent_p.T539T|CDC42BPA_uc009xes.2_Silent_p.T539T|CDC42BPA_uc010pvs.1_Silent_p.T539T	p.T539T	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			12	2560	-		all_cancers(173;0.156)|Prostate(94;0.0792)	539			Potential.			Silent	SNP	ENST00000366769.3	37	c.1617G>A	CCDS1558.1																																																																																				0.308	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826		3	18	0	0	0	0.115264	0	3	18		
LYST	1130	broad.mit.edu	37	1	235907429	235907429	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:235907429C>G	ENST00000389794.3	-	30	8175	c.8001G>C	c.(7999-8001)ttG>ttC	p.L2667F	LYST_ENST00000389793.2_Missense_Mutation_p.L2667F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2667					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGAGTTCTCAAAATGTCAA	0.294																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(7999-8001)TTG>TTC		lysosomal trafficking regulator							54.0	59.0	57.0					1																	235907429		2201	4293	6494	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235907429C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8001G>C	1.37:g.235907429C>G	ENSP00000374444:p.Leu2667Phe					LYST_uc009xga.1_Missense_Mutation_p.L303F	p.L2667F	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		30	8176	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	2667					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.8001G>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900941	0.72754	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.67345	-0.26;-0.26	5.64	4.73	0.59995	.	1.482520	0.03312	N	0.190707	T	0.79470	0.4451	M	0.65975	2.015	0.80722	D	1	D	0.54964	0.969	P	0.55923	0.787	T	0.63120	-0.6708	10	0.56958	D	0.05	.	12.2619	0.54655	0.0:0.9218:0.0:0.0782	.	2667	Q99698	LYST_HUMAN	F	2667	ENSP00000374444:L2667F;ENSP00000374443:L2667F	ENSP00000374443:L2667F	L	-	3	2	LYST	233974052	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.158000	0.42329	1.530000	0.49136	0.650000	0.86243	TTG		0.294	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				7	65	0	0	0	0.248553	0	7	65		
LYST	1130	broad.mit.edu	37	1	235907458	235907458	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:235907458C>G	ENST00000389794.3	-	30	8147		c.e30-1		LYST_ENST00000389793.2_Splice_Site			Q99698	LYST_HUMAN	lysosomal trafficking regulator						blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAATTAAATTCTTTGAATTGA	0.264																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.e30-1		lysosomal trafficking regulator							39.0	43.0	42.0					1																	235907458		2196	4290	6486	SO:0001630	splice_region_variant	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235907458C>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7973-1G>C	1.37:g.235907458C>G						LYST_uc009xga.1_Splice_Site_p.E294_splice	p.E2658_splice	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		30	8148	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)						O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Splice_Site	SNP	ENST00000389794.3	37	c.7973_splice	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495818	0.64186	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2317	0.86985	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LYST	233974081	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.498000	0.60373	2.820000	0.97059	0.650000	0.86243	.		0.264	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			Intron	4	47	0	0	0	0.150653	0	4	47		
CELF2	10659	broad.mit.edu	37	10	11308619	11308619	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:11308619G>A	ENST00000379261.4	+	6	668	c.576G>A	c.(574-576)atG>atA	p.M192I	CELF2_ENST00000416382.2_Missense_Mutation_p.M192I|CELF2_ENST00000608830.1_Missense_Mutation_p.M168I|CELF2_ENST00000427450.1_Missense_Mutation_p.M168I|CELF2_ENST00000537122.1_Missense_Mutation_p.M81I|CELF2_ENST00000354897.3_Missense_Mutation_p.M168I|CELF2_ENST00000542579.1_Missense_Mutation_p.M199I|CELF2_ENST00000399850.3_Missense_Mutation_p.M168I|CELF2_ENST00000417956.2_Missense_Mutation_p.M168I|CELF2_ENST00000450189.1_Missense_Mutation_p.M199I|CELF2_ENST00000315874.4_Missense_Mutation_p.M168I|CELF2_ENST00000609692.1_Missense_Mutation_p.M168I|CELF2_ENST00000354440.2_Missense_Mutation_p.M168I	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	192	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCAAAGCCATGCATCAGTCTC	0.453																																						uc001iki.3		NaN																	0					0						c.(574-576)ATG>ATA		CUG triplet repeat, RNA binding protein 2							191.0	177.0	182.0					10																	11308619		1997	4175	6172	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11308619G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.576G>A	10.37:g.11308619G>A	ENSP00000368563:p.Met192Ile					CELF2_uc010qbi.1_Intron|CELF2_uc010qbj.1_Missense_Mutation_p.M192I|CELF2_uc001ikk.2_Missense_Mutation_p.M199I|CELF2_uc001ikl.3_Missense_Mutation_p.M199I|CELF2_uc010qbk.1_Intron|CELF2_uc010qbl.1_Missense_Mutation_p.M168I|CELF2_uc010qbm.1_Intron|CELF2_uc001iko.3_Missense_Mutation_p.M168I|CELF2_uc001ikp.3_Missense_Mutation_p.M168I|CELF2_uc010qbn.1_Missense_Mutation_p.M176I|CELF2_uc010qbo.1_Missense_Mutation_p.M81I|CELF2_uc010qbp.1_Intron	p.M192I	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			6	668	+			192			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.576G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616793	0.87359	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122	T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.96	5.96	0.96718	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.41356	1.27	0.80722	D	1	D;D;P;P;D;D	0.67145	0.992;0.996;0.872;0.893;0.995;0.992	D;D;P;P;D;D	0.83275	0.994;0.996;0.465;0.675;0.993;0.994	T	0.02437	-1.1159	10	0.72032	D	0.01	-16.5975	20.4082	0.99013	0.0:0.0:1.0:0.0	.	176;192;187;199;187;192	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	I	192;192;199;199;168;168;168;168;168;168;81	ENSP00000368563:M192I;ENSP00000406451:M192I;ENSP00000389951:M199I;ENSP00000443926:M199I;ENSP00000382743:M168I;ENSP00000404834:M168I;ENSP00000315328:M168I;ENSP00000346426:M168I;ENSP00000388530:M168I;ENSP00000438884:M81I	ENSP00000315328:M168I	M	+	3	0	CELF2	11348625	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.814000	0.96858	0.655000	0.94253	ATG		0.453	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding					5	34	0	0	0	0.217242	0	5	34		
A1CF	29974	broad.mit.edu	37	10	52569778	52569778	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:52569778C>T	ENST00000373993.1	-	10	1553	c.1509G>A	c.(1507-1509)ctG>ctA	p.L503L	A1CF_ENST00000282641.2_Silent_p.L503L|A1CF_ENST00000395495.1_Silent_p.L448L|A1CF_ENST00000373997.3_Silent_p.L495L|A1CF_ENST00000373995.3_Silent_p.L503L|A1CF_ENST00000374001.2_Silent_p.L495L|A1CF_ENST00000493415.1_5'Flank|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395489.2_Silent_p.L496L			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	503					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CAAAGGCACTCAGCTTTGGAG	0.512																																						uc001jjj.2		NaN																	0				central_nervous_system(1)	1						c.(1507-1509)CTG>CTA		apobec-1 complementation factor isoform 2							169.0	142.0	151.0					10																	52569778		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52569778C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1509G>A	10.37:g.52569778C>T						A1CF_uc010qhn.1_Silent_p.L503L|A1CF_uc001jji.2_Silent_p.L495L|A1CF_uc001jjh.2_Silent_p.L503L|A1CF_uc010qho.1_Silent_p.L511L|A1CF_uc009xov.2_Silent_p.L495L	p.L503L	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			12	1697	-			503					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.1509G>A	CCDS7242.1																																																																																				0.512	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2		NM_014576		20	43	0	0	0	0.279207	0	20	43		
NRG3	10718	broad.mit.edu	37	10	84118578	84118578	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:84118578G>C	ENST00000404547.1	+	2	907	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	NRG3_ENST00000372142.2_Missense_Mutation_p.E82Q|NRG3_ENST00000556918.1_Missense_Mutation_p.E133Q|NRG3_ENST00000404576.2_Missense_Mutation_p.E107Q|NRG3_ENST00000372141.2_Missense_Mutation_p.E303Q			P56975	NRG3_HUMAN	neuregulin 3	303	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.E82K(1)|p.E303K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAATGATGGCGAGTGCTTTGT	0.547																																						uc001kco.2		NaN																	2	Substitution - Missense(2)		endometrium(2)	lung(5)|breast(1)	6						c.(907-909)GAG>CAG		neuregulin 3 isoform 1							181.0	137.0	152.0					10																	84118578		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84118578G>C	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.907G>C	10.37:g.84118578G>C	ENSP00000384796:p.Glu303Gln					NRG3_uc010qlz.1_Missense_Mutation_p.E303Q|NRG3_uc001kcp.2_Missense_Mutation_p.E82Q|NRG3_uc001kcq.2_5'UTR	p.E303Q	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	2	934	+			303			EGF-like.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.907G>C	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928535	0.92389	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000039	T	0.49338	0.1551	N	0.26130	0.795	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.87578	0.992;0.998;0.997	T	0.50276	-0.8847	10	0.72032	D	0.01	-3.4146	17.3885	0.87423	0.0:0.0:1.0:0.0	.	303;82;303	B9EGV5;P56975-3;P56975-4	.;.;.	Q	303;303;303;82;107;133	ENSP00000361214:E303Q;ENSP00000384796:E303Q;ENSP00000361215:E82Q;ENSP00000385804:E107Q;ENSP00000451376:E133Q	ENSP00000361214:E303Q	E	+	1	0	NRG3	84108558	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.367000	0.97148	2.711000	0.92665	0.655000	0.94253	GAG		0.547	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1		XM_166086		24	59	0	0	0	0.279207	0	24	59		
KIF11	3832	broad.mit.edu	37	10	94368903	94368903	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:94368903C>G	ENST00000260731.3	+	5	604	c.514C>G	c.(514-516)Ctt>Gtt	p.L172V		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	172	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTTGATCTTCTTAATCCATC	0.333																																					Colon(47;212 1003 2764 4062 8431)	uc001kic.2		NaN																	0				skin(1)	1						c.(514-516)CTT>GTT		kinesin family member 11							91.0	92.0	91.0					10																	94368903		2202	4300	6502	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94368903C>G	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.514C>G	10.37:g.94368903C>G	ENSP00000260731:p.Leu172Val					KIF11_uc010qnq.1_Intron	p.L172V	NM_004523	NP_004514	P52732	KIF11_HUMAN			5	822	+			172			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.514C>G	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795557	0.90453	.	.	ENSG00000138160	ENST00000260731	D	0.94280	-3.39	5.54	5.54	0.83059	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.97835	0.9289	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98329	1.0532	10	0.87932	D	0	.	19.6745	0.95926	0.0:1.0:0.0:0.0	.	172	P52732	KIF11_HUMAN	V	172	ENSP00000260731:L172V	ENSP00000260731:L172V	L	+	1	0	KIF11	94358883	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.877000	0.69675	2.880000	0.98712	0.650000	0.86243	CTT		0.333	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1		NM_004523		19	82	0	0	0	0.234183	0	19	82		
CHUK	1147	broad.mit.edu	37	10	101967090	101967090	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:101967090C>T	ENST00000370397.7	-	11	1215		c.e11-1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CACAGCCTCTCTGAAAAAGAA	0.308																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NaN																	1	Unknown(1)	p.?(1)	breast(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.e11-1		conserved helix-loop-helix ubiquitous kinase							38.0	39.0	39.0					10																	101967090		2202	4291	6493	SO:0001630	splice_region_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101967090C>T	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1129-1G>A	10.37:g.101967090C>T							p.R377_splice	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	11	1184	-		Colorectal(252;0.117)						O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	ENST00000370397.7	37	c.1129_splice	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575760	0.86645	.	.	ENSG00000213341	ENST00000370397	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7654	0.85522	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHUK	101957080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.550000	0.86006	0.585000	0.79938	.		0.308	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1		NM_001278	Intron	4	35	0	0	0	0.184627	0	4	35		
DCLRE1A	9937	broad.mit.edu	37	10	115596920	115596920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:115596920G>A	ENST00000361384.2	-	8	3780	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.Q955*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	955					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GCCAAAATCTGATTGTATTTC	0.368								Other identified genes with known or suspected DNA repair function																														uc001law.2		NaN																	0				skin(2)	2						c.(2863-2865)CAG>TAG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							210.0	199.0	203.0					10																	115596920		2203	4300	6503	SO:0001587	stop_gained	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115596920G>A		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2863C>T	10.37:g.115596920G>A	ENSP00000355185:p.Gln955*						p.Q955*	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	8	3781	-			955					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Nonsense_Mutation	SNP	ENST00000361384.2	37	c.2863C>T	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	G	48	14.014712	0.99775	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	5.04	3.11	0.35812	.	0.330492	0.33610	N	0.004731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-3.0912	9.4995	0.39008	0.081:0.1574:0.7616:0.0	.	.	.	.	X	955	.	ENSP00000355185:Q955X	Q	-	1	0	DCLRE1A	115586910	1.000000	0.71417	0.918000	0.36340	0.915000	0.54546	4.837000	0.62796	1.224000	0.43551	0.586000	0.80456	CAG		0.368	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1		NM_014881		37	74	0	0	0	0.268233	0	37	74		
FGFR2	2263	broad.mit.edu	37	10	123274680	123274680	+	Missense_Mutation	SNP	G	G	A	rs372348666		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr10:123274680G>A	ENST00000358487.5	-	9	1510	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L	FGFR2_ENST00000351936.6_Missense_Mutation_p.P413L|FGFR2_ENST00000346997.2_Missense_Mutation_p.P413L|FGFR2_ENST00000490349.1_5'Flank|FGFR2_ENST00000356226.4_Missense_Mutation_p.P298L|FGFR2_ENST00000369061.4_Missense_Mutation_p.P301L|FGFR2_ENST00000457416.2_Missense_Mutation_p.P414L|FGFR2_ENST00000369059.1_Missense_Mutation_p.P299L|FGFR2_ENST00000360144.3_Missense_Mutation_p.P325L|FGFR2_ENST00000369056.1_Missense_Mutation_p.P414L|FGFR2_ENST00000357555.5_Missense_Mutation_p.P324L|FGFR2_ENST00000478859.1_Missense_Mutation_p.P185L|FGFR2_ENST00000369060.4_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	413					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GTGCACAGCCGGCTGGCTGCT	0.493		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		0				endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(1237-1239)CCG>CTG		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)	G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,	1,4405	2.1+/-5.4	0,1,2202	109.0	116.0	114.0		1238,1241,902,971,893,893,974,1241,	5.9	1.0	10		114	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,intron	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144918.1,NM_001144919.1,NM_022970.3,NM_001144917.1	98,98,98,98,98,98,98,98,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,	413/822,414/770,301/710,324/708,298/707,298/705,325/681,414/823,	123274680	1,13005	2203	4300	6503	SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123274680G>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1238C>T	10.37:g.123274680G>A	ENSP00000351276:p.Pro413Leu					FGFR2_uc010qtg.1_Missense_Mutation_p.P301L|FGFR2_uc010qth.1_Missense_Mutation_p.P298L|FGFR2_uc010qti.1_Missense_Mutation_p.P324L|FGFR2_uc010qtj.1_Missense_Mutation_p.P414L|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.P298L|FGFR2_uc001lfl.3_Missense_Mutation_p.P414L|FGFR2_uc001lfm.2_Missense_Mutation_p.P325L|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_Missense_Mutation_p.P23L	p.P413L	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	9	1885	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	413			Cytoplasmic (Potential).		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1238C>T	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817443	0.70912	2.27E-4	0.0	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88392	0.6424	L	0.45581	1.43	0.80722	D	1	B;P;B;D;B;B;B;D	0.71674	0.244;0.857;0.016;0.998;0.01;0.301;0.036;0.997	B;B;B;D;B;B;B;P	0.67231	0.028;0.342;0.012;0.95;0.004;0.075;0.018;0.893	D	0.85436	0.1152	10	0.32370	T	0.25	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	432;414;324;298;413;325;414;318	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	L	324;416;301;413;298;299;5;413;414;413;325;414;414;324	ENSP00000350166:P324L;ENSP00000358057:P301L;ENSP00000351276:P413L;ENSP00000348559:P298L;ENSP00000358055:P299L;ENSP00000404219:P5L;ENSP00000263451:P413L;ENSP00000410294:P414L;ENSP00000309878:P413L;ENSP00000353262:P325L;ENSP00000358052:P414L;ENSP00000358054:P414L;ENSP00000337665:P324L	ENSP00000337665:P324L	P	-	2	0	FGFR2	123264670	1.000000	0.71417	0.980000	0.43619	0.932000	0.56968	6.670000	0.74467	2.797000	0.96272	0.655000	0.94253	CCG		0.493	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1		NM_022976, NM_000141		19	77	0	0	0	0.249174	0	19	77		
CDHR5	53841	broad.mit.edu	37	11	620354	620354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:620354G>C	ENST00000358353.3	-	9	1144	c.822C>G	c.(820-822)atC>atG	p.I274M	CDHR5_ENST00000397542.2_Missense_Mutation_p.I274M|CDHR5_ENST00000349570.7_Missense_Mutation_p.I274M			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	274	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCTCAGCGTAGATGGGTCCGG	0.657																																						uc001lqj.2		NaN																	0					0						c.(820-822)ATC>ATG		mucin and cadherin-like isoform 1							130.0	116.0	120.0					11																	620354		2203	4300	6503	SO:0001583	missense	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:620354G>C	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.822C>G	11.37:g.620354G>C	ENSP00000351118:p.Ile274Met					CDHR5_uc001lqk.2_Missense_Mutation_p.I274M|CDHR5_uc009ycc.2_Missense_Mutation_p.I108M|CDHR5_uc009ycd.2_Missense_Mutation_p.I274M|CDHR5_uc001lql.2_Missense_Mutation_p.I274M|CDHR5_uc001lqm.2_Missense_Mutation_p.I108M|CDHR5_uc009yce.1_Missense_Mutation_p.I243M	p.I274M	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN			8	927	-			274			Cadherin 3.|Extracellular (Potential).		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	ENST00000358353.3	37	c.822C>G	CCDS7707.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695673	0.30052	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	D;D;D	0.83755	-1.76;-1.76;-1.76	3.4	1.23	0.21249	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.86719	0.6000	M	0.67625	2.065	0.27585	N	0.949461	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.999	D;D;D;D;D	0.71656	0.973;0.952;0.935;0.974;0.974	T	0.75199	-0.3402	9	0.87932	D	0	-32.9122	3.8923	0.09123	0.1329:0.0:0.6346:0.2325	.	274;274;267;274;274	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	M	274	ENSP00000380676:I274M;ENSP00000351118:I274M;ENSP00000345726:I274M	ENSP00000326527:I274M	I	-	3	3	CDHR5	610354	0.877000	0.30153	0.988000	0.46212	0.041000	0.13682	0.123000	0.15708	0.751000	0.32900	0.448000	0.29417	ATC		0.657	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2		NM_021924		9	57	0	0	0	0.069234	0	9	57		
DUSP8	1850	broad.mit.edu	37	11	1579452	1579452	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:1579452G>C	ENST00000397374.3	-	5	714	c.587C>G	c.(586-588)tCc>tGc	p.S196C	DUSP8_ENST00000331588.4_Missense_Mutation_p.S196C|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	196	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CTTGGGGCAGGAGTTGCTGGC	0.592																																						uc001lts.2		NaN																	0					0						c.(586-588)TCC>TGC		dual specificity phosphatase 8							59.0	56.0	57.0					11																	1579452		2202	4299	6501	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1579452G>C		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.587C>G	11.37:g.1579452G>C	ENSP00000380530:p.Ser196Cys						p.S196C	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	5	715	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	196			Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.587C>G	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231184	0.58777	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	D;D	0.86497	-2.13;-2.13	3.98	3.98	0.46160	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.076207	0.53938	D	0.000051	D	0.88544	0.6465	M	0.75447	2.3	0.47949	D	0.999558	B	0.22604	0.072	B	0.32980	0.156	D	0.88680	0.3201	10	0.87932	D	0	.	16.2454	0.82441	0.0:0.0:1.0:0.0	.	196	Q13202	DUS8_HUMAN	C	196	ENSP00000380530:S196C;ENSP00000329539:S196C	ENSP00000329539:S196C	S	-	2	0	DUSP8	1536028	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.115000	0.71566	2.058000	0.61347	0.313000	0.20887	TCC		0.592	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3		NM_004420		18	20	0	0	0	0.160694	0	18	20		
OR52K1	390036	broad.mit.edu	37	11	4510933	4510933	+	Missense_Mutation	SNP	G	G	A	rs552943528		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:4510933G>A	ENST00000307632.3	+	1	825	c.803G>A	c.(802-804)cGc>cAc	p.R268H		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGTGTAGCCCGCCATGCTGCC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		21429	0.0		0.0	False		,,,				2504	0.001					uc001lza.1		NaN																	0					0						c.(802-804)CGC>CAC		olfactory receptor, family 52, subfamily K,							209.0	189.0	196.0					11																	4510933		2201	4298	6499	SO:0001583	missense	390036				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4510933G>A	AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.803G>A	11.37:g.4510933G>A	ENSP00000302422:p.Arg268His						p.R268H	NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	803	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	268			Extracellular (Potential).		B9EH54|Q6IFK5	Missense_Mutation	SNP	ENST00000307632.3	37	c.803G>A	CCDS31352.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.622991	0.00117	.	.	ENSG00000196778	ENST00000307632	T	0.36878	1.23	4.5	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.429234	0.17846	N	0.160035	T	0.11665	0.0284	N	0.02368	-0.58	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.32824	-0.9892	10	0.02654	T	1	.	7.9754	0.30151	0.2484:0.0:0.7516:0.0	.	268	Q8NGK4	O52K1_HUMAN	H	268	ENSP00000302422:R268H	ENSP00000302422:R268H	R	+	2	0	OR52K1	4467509	0.000000	0.05858	0.629000	0.29254	0.060000	0.15804	-0.733000	0.04898	1.254000	0.44035	-0.495000	0.04643	CGC		0.502	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1		NM_001005171		30	167	0	0	0	0.193644	0	30	167		
NLRP10	338322	broad.mit.edu	37	11	7981220	7981220	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:7981220C>G	ENST00000328600.2	-	2	2100	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	647					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTGTTTCCTCTGTCCCTCTG	0.383																																						uc001mfv.1		NaN																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1939-1941)GAG>CAG		NLR family, pyrin domain containing 10							111.0	101.0	104.0					11																	7981220		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981220C>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1939G>C	11.37:g.7981220C>G	ENSP00000327763:p.Glu647Gln						p.E647Q	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1956	-			647					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1939G>C	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249596	0.59212	.	.	ENSG00000182261	ENST00000328600	T	0.80738	-1.41	3.18	2.26	0.28386	.	0.000000	0.34338	N	0.004048	T	0.62636	0.2444	L	0.29908	0.895	0.22401	N	0.999137	P	0.44877	0.845	B	0.36244	0.22	T	0.54801	-0.8239	10	0.31617	T	0.26	.	6.4417	0.21853	0.0:0.8642:0.0:0.1358	.	647	Q86W26	NAL10_HUMAN	Q	647	ENSP00000327763:E647Q	ENSP00000327763:E647Q	E	-	1	0	NLRP10	7937796	0.059000	0.20769	0.172000	0.22920	0.445000	0.32107	0.041000	0.13927	0.924000	0.37069	0.514000	0.50259	GAG		0.383	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821		11	12	0	0	0	0.105934	0	11	12		
NLRP10	338322	broad.mit.edu	37	11	7981650	7981650	+	Missense_Mutation	SNP	C	C	G	rs551262214		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:7981650C>G	ENST00000328600.2	-	2	1670	c.1509G>C	c.(1507-1509)gaG>gaC	p.E503D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	503					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCCTTCCTGCTCCTTTACCT	0.488																																						uc001mfv.1		NaN																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(1507-1509)GAG>GAC		NLR family, pyrin domain containing 10							100.0	96.0	97.0					11																	7981650		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7981650C>G	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1509G>C	11.37:g.7981650C>G	ENSP00000327763:p.Glu503Asp						p.E503D	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1526	-			503					Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.1509G>C	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	C	2.970	-0.212565	0.06140	.	.	ENSG00000182261	ENST00000328600	D	0.88277	-2.36	3.76	-0.771	0.11002	.	1.721150	0.03760	N	0.257972	T	0.74543	0.3730	N	0.14661	0.345	0.09310	N	1	B	0.26120	0.142	B	0.22386	0.039	T	0.61946	-0.6958	10	0.12430	T	0.62	.	0.6333	0.00798	0.2032:0.3773:0.1829:0.2367	.	503	Q86W26	NAL10_HUMAN	D	503	ENSP00000327763:E503D	ENSP00000327763:E503D	E	-	3	2	NLRP10	7938226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.399000	0.07250	-0.093000	0.12396	-1.087000	0.02190	GAG		0.488	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821		34	25	0	0	0	0.214465	0	34	25		
TMEM132A	54972	broad.mit.edu	37	11	60695125	60695125	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:60695125C>T	ENST00000453848.2	+	3	486	c.328C>T	c.(328-330)Cga>Tga	p.R110*	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Nonsense_Mutation_p.R110*			Q24JP5	T132A_HUMAN	transmembrane protein 132A	110						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGTCCCCCCTCGAGTCACTGA	0.602																																						uc001nqj.2		NaN																	0				skin(1)	1						c.(328-330)CGA>TGA		transmembrane protein 132A isoform b							92.0	104.0	100.0					11																	60695125		2203	4298	6501	SO:0001587	stop_gained	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60695125C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.328C>T	11.37:g.60695125C>T	ENSP00000405823:p.Arg110*					TMEM132A_uc001nqi.2_Nonsense_Mutation_p.R110*|TMEM132A_uc001nqk.2_Nonsense_Mutation_p.R123*|TMEM132A_uc001nql.1_Nonsense_Mutation_p.R123*	p.R110*	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			3	521	+			110			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Nonsense_Mutation	SNP	ENST00000453848.2	37	c.328C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850314	0.51270	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	.	.	.	4.73	0.507	0.16967	.	0.863951	0.09959	N	0.733628	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	0.9084	0.01289	0.2635:0.3647:0.1225:0.2494	.	.	.	.	X	110	.	ENSP00000005286:R110X	R	+	1	2	TMEM132A	60451701	0.001000	0.12720	0.976000	0.42696	0.203000	0.24098	0.160000	0.16462	0.148000	0.19059	0.563000	0.77884	CGA		0.602	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1		NM_017870		12	169	0	0	0	0.175082	0	12	169		
INTS5	80789	broad.mit.edu	37	11	62416037	62416037	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:62416037C>T	ENST00000330574.2	-	2	1567	c.1515G>A	c.(1513-1515)ctG>ctA	p.L505L	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	505					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGACAGACAGCAGGCCCAAGA	0.562																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(1513-1515)CTG>CTA		integrator complex subunit 5							87.0	85.0	86.0					11																	62416037		2202	4299	6501	SO:0001819	synonymous_variant	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416037C>T	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1515G>A	11.37:g.62416037C>T						GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.L505L	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1568	-			505					Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	c.1515G>A	CCDS8027.1																																																																																				0.562	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		17	100	0	0	0	0.204396	0	17	100		
MRPL21	219927	broad.mit.edu	37	11	68660897	68660897	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:68660897G>T	ENST00000362034.2	-	5	432	c.423C>A	c.(421-423)ttC>ttA	p.F141L	MRPL21_ENST00000450904.2_Missense_Mutation_p.F56L|MRPL21_ENST00000567045.1_Missense_Mutation_p.F56L	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	141					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAAGCAGCGTGAAGTTGTCTG	0.507																																						uc001ooi.2		NaN																	0					0						c.(421-423)TTC>TTA		mitochondrial ribosomal protein L21 isoform d							81.0	75.0	77.0					11																	68660897		2200	4294	6494	SO:0001583	missense	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68660897G>T	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.423C>A	11.37:g.68660897G>T	ENSP00000354580:p.Phe141Leu					MRPL21_uc001ooh.2_Missense_Mutation_p.F56L|MRPL21_uc010rqe.1_Missense_Mutation_p.F141L	p.F141L	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		5	448	-			141					A6NKU0|C9JPR2	Missense_Mutation	SNP	ENST00000362034.2	37	c.423C>A	CCDS8186.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233244	0.79688	.	.	ENSG00000197345	ENST00000450904;ENST00000362034;ENST00000447977	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	T	0.83318	-0.0019	9	0.62326	D	0.03	-28.2814	9.3995	0.38424	0.0995:0.0:0.9005:0.0	.	141;141	B4DXI4;Q7Z2W9	.;RM21_HUMAN	L	56;141;141	.	ENSP00000354580:F141L	F	-	3	2	MRPL21	68417473	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	3.663000	0.54518	2.209000	0.71365	0.561000	0.74099	TTC		0.507	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1		NM_181512		49	50	1	0	2.43139e-17	0.323286	2.70155e-17	49	50		
P2RY2	5029	broad.mit.edu	37	11	72945902	72945902	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:72945902C>T	ENST00000311131.2	+	3	1165	c.698C>T	c.(697-699)tCg>tTg	p.S233L	P2RY2_ENST00000393597.2_Missense_Mutation_p.S233L|P2RY2_ENST00000393596.2_Missense_Mutation_p.S233L	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	233					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TACGGGACCTCGGGCGGCCTG	0.647																																						uc001otj.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(697-699)TCG>TTG		purinergic receptor P2Y2	Suramin(DB04786)						70.0	66.0	67.0					11																	72945902		2200	4293	6493	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945902C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.698C>T	11.37:g.72945902C>T	ENSP00000310305:p.Ser233Leu					P2RY2_uc001otk.2_Missense_Mutation_p.S233L|P2RY2_uc001otl.2_Missense_Mutation_p.S233L	p.S233L	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	1031	+			233			Cytoplasmic (Potential).		B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.698C>T	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	8.526	0.869781	0.17322	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.46451	0.87;0.87;0.87	3.99	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37812	0.1017	L	0.47190	1.495	0.09310	N	1	B	0.27316	0.175	B	0.33454	0.164	T	0.20907	-1.0261	9	0.28530	T	0.3	.	10.797	0.46466	0.0:0.9033:0.0:0.0967	.	233	P41231	P2RY2_HUMAN	L	233	ENSP00000377222:S233L;ENSP00000310305:S233L;ENSP00000377221:S233L	ENSP00000310305:S233L	S	+	2	0	P2RY2	72623550	0.000000	0.05858	0.003000	0.11579	0.361000	0.29550	0.324000	0.19610	2.170000	0.68504	0.561000	0.74099	TCG		0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1		NM_176072		61	56	0	0	0	0.323286	0	61	56		
B3GNT6	192134	broad.mit.edu	37	11	76751660	76751660	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:76751660A>G	ENST00000533140.1	+	2	1203	c.1065A>G	c.(1063-1065)ctA>ctG	p.L355L	B3GNT6_ENST00000421061.1_Silent_p.L233L|B3GNT6_ENST00000354301.5_Silent_p.L354L			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	371					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						AGTTGCTGCTAGTGCACCGCT	0.682																																						uc001oxw.2		NaN																	0					0						c.(1060-1062)CTA>CTG		UDP-GlcNAc:betaGal							19.0	20.0	20.0					11																	76751660		2183	4274	6457	SO:0001819	synonymous_variant	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76751660A>G	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.1065A>G	11.37:g.76751660A>G							p.L354L	NM_138706	NP_619651	Q6ZMB0	B3GN6_HUMAN			6	1150	+			354			Lumenal (Potential).		Q4TTN0	Silent	SNP	ENST00000533140.1	37	c.1062A>G	CCDS53681.1																																																																																				0.682	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2		NM_138706		6	26	0	0	0	0.27861	0	6	26		
ATM	472	broad.mit.edu	37	11	108196036	108196036	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:108196036G>A	ENST00000452508.2	+	47	6761		c.e47-1		C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase						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)	GTGGCATTCAGATCAGTCACA	0.328			"""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				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.e46-1	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							101.0	99.0	100.0					11																	108196036		2201	4298	6499	SO:0001630	splice_region_variant	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.chr11:108196036G>A	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.6573-1G>A	11.37:g.108196036G>A		TSP Lung(14;0.12)				ATM_uc009yxr.1_Splice_Site_p.R2191_splice|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Splice_Site_p.R843_splice|ATM_uc001pkg.1_Splice_Site_p.R548_splice	p.R2191_splice	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)	46	6958	+		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)						B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	37	c.6573_splice	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575931	0.28092	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5864	0.95492	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATM	107701246	1.000000	0.71417	0.998000	0.56505	0.064000	0.16182	6.330000	0.72925	2.705000	0.92388	0.655000	0.94253	.		0.328	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051	Intron	48	14	0	0	0	0.323286	0	48	14		
C11orf65	160140	broad.mit.edu	37	11	108264059	108264059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:108264059G>C	ENST00000529391.1	-	6	616	c.607C>G	c.(607-609)Cta>Gta	p.L203V	C11orf65_ENST00000393084.1_Missense_Mutation_p.L203V|C11orf65_ENST00000526725.1_5'UTR|C11orf65_ENST00000525729.1_Missense_Mutation_p.L154V			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	203										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ATTAGTCCTAGAGTTTCATGA	0.413																																						uc001pkh.2		NaN																	0				ovary(1)	1						c.(607-609)CTA>GTA		hypothetical protein LOC160140							226.0	200.0	209.0					11																	108264059		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108264059G>C	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.607C>G	11.37:g.108264059G>C	ENSP00000436400:p.Leu203Val					C11orf65_uc010rvx.1_Missense_Mutation_p.L154V|C11orf65_uc009yxu.1_RNA	p.L203V	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	7	677	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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)	203					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.607C>G	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	G	9.356	1.066755	0.20067	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.54	-11.1	0.00147	.	1.191760	0.06247	N	0.691481	T	0.16385	0.0394	L	0.56769	1.78	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.38265	-0.9669	10	0.02654	T	1	-0.1361	3.0029	0.06019	0.1314:0.346:0.2537:0.2689	.	154;203	B4DZU4;Q8NCR3	.;CK065_HUMAN	V	154;203;203;185	ENSP00000433395:L154V;ENSP00000436400:L203V;ENSP00000376799:L203V;ENSP00000434500:L185V	ENSP00000376799:L203V	L	-	1	2	C11orf65	107769269	0.000000	0.05858	0.001000	0.08648	0.339000	0.28857	-2.821000	0.00749	-1.763000	0.01307	0.563000	0.77884	CTA		0.413	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3		NM_152587		10	89	0	0	0	0.080935	0	10	89		
VPS11	55823	broad.mit.edu	37	11	118949563	118949563	+	Missense_Mutation	SNP	G	G	A	rs368691793		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:118949563G>A	ENST00000300793.6	+	14	2161	c.2119G>A	c.(2119-2121)Gtg>Atg	p.V707M	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	708					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GGTCATCAGCGTGTGTGAGCG	0.622																																						uc010ryx.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2122-2124)GTG>ATG		vacuolar protein sorting 11		G	MET/VAL	0,4352		0,0,2176	39.0	44.0	42.0		2121	5.4	1.0	11		42	1,8547		0,1,4273	no	missense	VPS11	NM_021729.4	21	0,1,6449	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	708/942	118949563	1,12899	2176	4274	6450	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949563G>A	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2119G>A	11.37:g.118949563G>A	ENSP00000475301:p.Val707Met					VPS11_uc010ryy.1_Missense_Mutation_p.V554M	p.V708M	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	14	2164	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	708					Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.2122G>A																																																																																					0.622	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_021729		15	9	0	0	0	0.132662	0	15	9		
VSIG2	23584	broad.mit.edu	37	11	124620668	124620668	+	Silent	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:124620668G>T	ENST00000326621.5	-	3	469	c.369C>A	c.(367-369)gtC>gtA	p.V123V	VSIG2_ENST00000403470.1_Silent_p.V123V	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	123	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)		GTGGGTTGTTGACTTGGCAGA	0.552																																						uc001qas.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(367-369)GTC>GTA		V-set and immunoglobulin domain containing 2							127.0	108.0	114.0					11																	124620668		2201	4299	6500	SO:0001819	synonymous_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124620668G>T	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.369C>A	11.37:g.124620668G>T						VSIG2_uc001qat.2_Silent_p.V123V	p.V123V	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	3	445	-	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)	123			Extracellular (Potential).|Ig-like V-type.		O95791|Q9NX42	Silent	SNP	ENST00000326621.5	37	c.369C>A	CCDS8452.1																																																																																				0.552	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1		NM_014312		16	20	1	0	6.49762e-13	0.175082	7.14398e-13	16	20		
KDM5A	5927	broad.mit.edu	37	12	427453	427453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:427453C>A	ENST00000399788.2	-	19	3078	c.2716G>T	c.(2716-2718)Gaa>Taa	p.E906*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.E906*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	906					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGTCTTACTTCGTCCAACCAC	0.488			T	NUP98	AML																																	uc001qif.1		NaN		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(2716-2718)GAA>TAA		retinoblastoma binding protein 2 isoform 1							151.0	147.0	148.0					12																	427453		1937	4147	6084	SO:0001587	stop_gained	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:427453C>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2716G>T	12.37:g.427453C>A	ENSP00000382688:p.Glu906*					KDM5A_uc001qie.1_Nonsense_Mutation_p.E906*|KDM5A_uc010sdn.1_Nonsense_Mutation_p.E865*	p.E906*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			19	3079	-			906					A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	ENST00000399788.2	37	c.2716G>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	43	10.031915	0.99321	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	.	.	.	5.25	4.35	0.52113	.	0.110416	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.8266	13.2301	0.59938	0.0:0.9233:0.0:0.0767	.	.	.	.	X	525;865;906;906;525	.	ENSP00000261253:E525X	E	-	1	0	KDM5A	297714	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.569000	0.60865	2.459000	0.83118	0.591000	0.81541	GAA		0.488	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1		NM_005056		13	140	1	0	2.32078e-09	0.132662	2.49931e-09	13	140		
FOXM1	2305	broad.mit.edu	37	12	2973567	2973567	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:2973567C>T	ENST00000359843.3	-	8	1253	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	FOXM1_ENST00000361953.3_Silent_p.V380V|FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Silent_p.V395V	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	395					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			ATGGCACCTTCACCGAGGGCT	0.592																																						uc001qlf.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1183-1185)GTG>GTA		forkhead box M1 isoform 2							87.0	93.0	91.0					12																	2973567		2203	4300	6503	SO:0001819	synonymous_variant	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2973567C>T	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1185G>A	12.37:g.2973567C>T						FOXM1_uc001qle.2_Silent_p.V395V|FOXM1_uc001qlg.2_Silent_p.V380V|FOXM1_uc009zea.2_Silent_p.V380V|FOXM1_uc009zeb.2_Silent_p.V379V	p.V395V	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		8	1450	-			395					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	ENST00000359843.3	37	c.1185G>A	CCDS8515.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271331	0.23221	.	.	ENSG00000111206	ENST00000535350	.	.	.	5.09	0.465	0.16711	.	.	.	.	.	T	0.51839	0.1698	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.38499	-0.9658	4	.	.	.	.	6.0467	0.19764	0.0:0.2983:0.4959:0.2058	.	.	.	.	K	121	.	.	E	-	1	0	FOXM1	2843828	0.797000	0.28877	0.991000	0.47740	0.935000	0.57460	0.036000	0.13819	0.075000	0.16796	0.561000	0.74099	GAA		0.592	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1		NM_021953		50	90	0	0	0	0.323286	0	50	90		
KIF21A	55605	broad.mit.edu	37	12	39761747	39761747	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:39761747C>A	ENST00000361418.5	-	4	553	c.538G>T	c.(538-540)Gat>Tat	p.D180Y	KIF21A_ENST00000395670.3_Missense_Mutation_p.D180Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.D180Y|KIF21A_ENST00000361961.3_Missense_Mutation_p.D180Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.D180Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	180	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCAGTTGAATCTTCATGAATT	0.308																																						uc001rly.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(538-540)GAT>TAT		kinesin family member 21A							95.0	107.0	103.0					12																	39761747		2202	4292	6494	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39761747C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.538G>T	12.37:g.39761747C>A	ENSP00000354878:p.Asp180Tyr					KIF21A_uc001rlx.2_Missense_Mutation_p.D180Y|KIF21A_uc001rlz.2_Missense_Mutation_p.D180Y|KIF21A_uc010skl.1_Missense_Mutation_p.D180Y|KIF21A_uc001rma.1_Missense_Mutation_p.D180Y	p.D180Y	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			4	684	-		Lung NSC(34;0.179)|all_lung(34;0.213)	180			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.538G>T	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730238	0.89390	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.8	5.8	0.92144	Kinesin, motor domain (4);	0.000000	0.53938	D	0.000049	D	0.91489	0.7313	M	0.92555	3.32	0.80722	D	1	D;D;D;D;P	0.89917	0.997;1.0;0.998;1.0;0.945	D;D;D;D;P	0.97110	0.983;0.999;0.994;1.0;0.749	D	0.92734	0.6202	10	0.87932	D	0	.	20.0589	0.97667	0.0:1.0:0.0:0.0	.	180;180;180;180;180	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	Y	180	ENSP00000354851:D180Y;ENSP00000379029:D180Y;ENSP00000445606:D180Y;ENSP00000354878:D180Y;ENSP00000438075:D180Y	ENSP00000344501:D180Y	D	-	1	0	KIF21A	38048014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.192000	0.77771	2.732000	0.93576	0.650000	0.86243	GAT		0.308	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		50	147	1	0	1.39843e-22	0.323286	1.58741e-22	50	147		
ZC3H10	84872	broad.mit.edu	37	12	56515546	56515546	+	Silent	SNP	G	G	A	rs375224738		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:56515546G>A	ENST00000257940.2	+	3	1476	c.1200G>A	c.(1198-1200)tcG>tcA	p.S400S	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	400							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TGGCTGTATCGATGGCCCAAC	0.592																																						uc001sjp.1		NaN																	0					0						c.(1198-1200)TCG>TCA		zinc finger CCCH-type containing 10							129.0	97.0	108.0					12																	56515546		2203	4300	6503	SO:0001819	synonymous_variant	84872						nucleic acid binding|zinc ion binding	g.chr12:56515546G>A	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1200G>A	12.37:g.56515546G>A							p.S400S	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1389	+			400						Silent	SNP	ENST00000257940.2	37	c.1200G>A	CCDS8903.1																																																																																				0.592	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1		NM_032786		8	70	0	0	0	0.307466	0	8	70		
NAP1L1	4673	broad.mit.edu	37	12	76449866	76449866	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:76449866C>T	ENST00000261182.8	-	7	991	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	NAP1L1_ENST00000393263.3_Missense_Mutation_p.E169K|NAP1L1_ENST00000547773.1_Missense_Mutation_p.E106K|NAP1L1_ENST00000542344.1_Missense_Mutation_p.E127K|NAP1L1_ENST00000552342.1_Missense_Mutation_p.E180K|NAP1L1_ENST00000547993.1_5'UTR|NAP1L1_ENST00000548044.1_Missense_Mutation_p.E128K|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000549596.1_Missense_Mutation_p.E169K|NAP1L1_ENST00000535020.2_Missense_Mutation_p.E169K|NAP1L1_ENST00000431879.3_Missense_Mutation_p.E101K	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	169					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AACCAAAATTCAGGAATTCCT	0.328																																						uc001sxw.2		NaN																	0				ovary(1)|skin(1)	2						c.(505-507)GAA>AAA		nucleosome assembly protein 1-like 1							75.0	72.0	73.0					12																	76449866		2203	4298	6501	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76449866C>T		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.505G>A	12.37:g.76449866C>T	ENSP00000261182:p.Glu169Lys					NAP1L1_uc001sxv.2_Missense_Mutation_p.E127K|NAP1L1_uc001sxz.2_Missense_Mutation_p.E100K|NAP1L1_uc001sxx.2_Missense_Mutation_p.E169K|NAP1L1_uc001sxy.2_Missense_Mutation_p.E106K|NAP1L1_uc010sty.1_Missense_Mutation_p.E126K|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Missense_Mutation_p.E169K|NAP1L1_uc001syb.2_Missense_Mutation_p.E169K|NAP1L1_uc001sya.2_Missense_Mutation_p.E127K|NAP1L1_uc001syc.2_Missense_Mutation_p.E180K	p.E169K	NM_139207	NP_631946	P55209	NP1L1_HUMAN			7	917	-		Colorectal(145;0.09)	169					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.505G>A	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.606502	0.96626	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273;ENST00000551600;ENST00000547704	T;T;T;T;T;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;0.96;0.96;0.96;0.96;0.96	5.93	5.93	0.95920	.	0.043784	0.85682	N	0.000000	T	0.54615	0.1869	L	0.56124	1.755	0.80722	D	1	P;P;P;P;B;B;B	0.43701	0.611;0.607;0.611;0.815;0.367;0.2;0.202	P;P;P;P;B;B;B	0.50537	0.511;0.507;0.511;0.643;0.309;0.209;0.215	T	0.49808	-0.8900	10	0.52906	T	0.07	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	169;127;180;169;101;106;169	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	K	169;163;169;101;106;127;169;169;180;128;142;169;128;175;176	ENSP00000261182:E169K;ENSP00000450236:E163K;ENSP00000376947:E169K;ENSP00000409795:E101K;ENSP00000448167:E106K;ENSP00000444759:E127K;ENSP00000445008:E169K;ENSP00000447793:E169K;ENSP00000447196:E180K;ENSP00000449649:E128K;ENSP00000448133:E142K;ENSP00000448764:E169K;ENSP00000446787:E128K;ENSP00000448836:E175K;ENSP00000446756:E176K	ENSP00000261182:E169K	E	-	1	0	NAP1L1	74736133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.802000	0.96397	0.563000	0.77884	GAA		0.328	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3		NM_139207		12	36	0	0	0	0.080935	0	12	36		
ACSS3	79611	broad.mit.edu	37	12	81647291	81647291	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:81647291G>C	ENST00000548058.1	+	15	2747	c.1837G>C	c.(1837-1839)Gag>Cag	p.E613Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.E612Q|ACSS3_ENST00000548324.1_Missense_Mutation_p.E295Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	613						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						TGCAACAGAGGAGCAAGTTTT	0.398																																						uc001szl.1		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1837-1839)GAG>CAG		acyl-CoA synthetase short-chain family member 3							91.0	95.0	94.0					12																	81647291		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81647291G>C		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.1837G>C	12.37:g.81647291G>C	ENSP00000449535:p.Glu613Gln					ACSS3_uc001szm.1_Missense_Mutation_p.E612Q|ACSS3_uc001szn.1_Missense_Mutation_p.E295Q	p.E613Q	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			15	1928	+			613					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1837G>C	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239011	0.22711	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.58358	2.69;2.69;0.34	6.03	3.17	0.36434	.	0.489562	0.23351	N	0.049140	T	0.42223	0.1193	L	0.47078	1.49	0.27675	N	0.94665	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.31138	-0.9954	10	0.35671	T	0.21	-13.8637	8.7076	0.34365	0.1138:0.2579:0.6283:0.0	.	295;613	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	Q	613;612;295	ENSP00000449535:E613Q;ENSP00000261206:E612Q;ENSP00000448965:E295Q	ENSP00000261206:E612Q	E	+	1	0	ACSS3	80171422	1.000000	0.71417	0.954000	0.39281	0.685000	0.39939	1.672000	0.37523	0.852000	0.35287	0.557000	0.71058	GAG		0.398	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1		NM_024560		62	17	0	0	0	0.323286	0	62	17		
ATP2B1	490	broad.mit.edu	37	12	90028786	90028786	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:90028786G>C	ENST00000428670.3	-	4	1105	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q217E|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q217E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q217E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	217					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATTTCACTTGAGCAATATCT	0.348																																						uc001tbh.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(649-651)CAA>GAA		plasma membrane calcium ATPase 1 isoform 1b							117.0	109.0	112.0					12																	90028786		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90028786G>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.649C>G	12.37:g.90028786G>C	ENSP00000392043:p.Gln217Glu					ATP2B1_uc001tbg.2_Missense_Mutation_p.Q217E	p.Q217E	NM_001682	NP_001673	P20020	AT2B1_HUMAN			3	830	-			217			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.649C>G	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583501	0.86748	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	L	0.33668	1.02	0.80722	D	1	D;P	0.58268	0.982;0.559	D;P	0.70227	0.968;0.533	D	0.90967	0.4817	9	.	.	.	-6.2564	20.1615	0.98135	0.0:0.0:1.0:0.0	.	217;217	P20020-3;P20020-2	.;.	E	217	ENSP00000261173:Q217E;ENSP00000343599:Q217E;ENSP00000352054:Q217E;ENSP00000392043:Q217E	.	Q	-	1	0	ATP2B1	88552917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	CAA		0.348	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1		NM_001682		61	27	0	0	0	0.323286	0	61	27		
CLIP1	6249	broad.mit.edu	37	12	122758620	122758620	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:122758620C>G	ENST00000540338.1	-	24	4097	c.4056G>C	c.(4054-4056)ctG>ctC	p.L1352L	CLIP1_ENST00000540539.1_Silent_p.L31L|CLIP1_ENST00000302528.7_Silent_p.L1341L|CLIP1_ENST00000537178.1_Silent_p.L1306L|CLIP1_ENST00000361654.4_Silent_p.L1230L|CLIP1_ENST00000545889.1_Silent_p.L927L|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000358808.2_Silent_p.L1341L			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1352					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CGTTCCCATTCAGGGCTGCTT	0.433																																						uc001ucg.1		NaN																	0				ovary(2)|breast(1)	3						c.(4054-4056)CTG>CTC		restin isoform a							292.0	256.0	268.0					12																	122758620		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122758620C>G		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.4056G>C	12.37:g.122758620C>G						CLIP1_uc001uch.1_Silent_p.L1341L|CLIP1_uc001uci.1_Silent_p.L1306L|CLIP1_uc001ucf.1_Silent_p.L11L	p.L1352L	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	24	4162	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1352			Potential.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.4056G>C	CCDS58285.1																																																																																				0.433	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956		119	139	0	0	0	0.323286	0	119	139		
ANKLE2	23141	broad.mit.edu	37	12	133313491	133313491	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:133313491C>T	ENST00000357997.5	-	8	1670	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	ANKLE2_ENST00000539605.1_Silent_p.L465L|ANKLE2_ENST00000337516.5_Silent_p.L527L|ANKLE2_ENST00000542374.1_5'Flank	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	527					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGCTGGACTCAGGGGCCCTG	0.627																																						uc001ukx.2		NaN																	0					0						c.(1579-1581)CTG>CTA		ankyrin repeat and LEM domain containing 2							70.0	81.0	78.0					12																	133313491		2020	4169	6189	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133313491C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1581G>A	12.37:g.133313491C>T						ANKLE2_uc009zyw.1_5'Flank|ANKLE2_uc001uky.3_Silent_p.L465L	p.L527L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	8	1648	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	527					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.1581G>A	CCDS41869.1																																																																																				0.627	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1				40	61	0	0	0	0.301197	0	40	61		
PCDH8	5100	broad.mit.edu	37	13	53420246	53420246	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr13:53420246G>A	ENST00000377942.3	-	1	2529	c.2326C>T	c.(2326-2328)Cgc>Tgc	p.R776C	PCDH8_ENST00000338862.4_Missense_Mutation_p.R776C	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	776					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCTTGCGGCGGTTGCAGGTG	0.736																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NaN																	0				breast(1)	1						c.(2326-2328)CGC>TGC		protocadherin 8 isoform 1 precursor							23.0	32.0	29.0					13																	53420246		1925	3875	5800	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420246G>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2326C>T	13.37:g.53420246G>A	ENSP00000367177:p.Arg776Cys					PCDH8_uc001vhj.2_Missense_Mutation_p.R776C	p.R776C	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2529	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	776			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.2326C>T	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069828	0.76301	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.55930	0.49;0.54	4.95	4.04	0.47022	.	0.000000	0.44097	D	0.000484	T	0.54287	0.1849	L	0.27053	0.805	0.45307	D	0.998308	D;D	0.89917	1.0;1.0	D;D	0.64506	0.917;0.926	T	0.57112	-0.7867	10	0.72032	D	0.01	.	9.1898	0.37193	0.0:0.1257:0.62:0.2544	.	776;776	O95206-2;O95206	.;PCDH8_HUMAN	C	776;776;302;619	ENSP00000367177:R776C;ENSP00000341350:R776C	ENSP00000341350:R776C	R	-	1	0	PCDH8	52318247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.495000	0.45337	2.281000	0.76405	0.655000	0.94253	CGC		0.736	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2		NM_002590		6	44	0	0	0	0.27861	0	6	44		
RBM26	64062	broad.mit.edu	37	13	79945269	79945269	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr13:79945269G>A	ENST00000438737.2	-	5	885	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	RBM26_ENST00000267229.7_Missense_Mutation_p.R149C|RBM26_ENST00000438724.1_Missense_Mutation_p.R149C			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	149	Arg-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTGCGAGAACGATCATCTTTT	0.383																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(445-447)CGT>TGT		RNA binding motif protein 26							87.0	85.0	85.0					13																	79945269		2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79945269G>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.445C>T	13.37:g.79945269G>A	ENSP00000387531:p.Arg149Cys					RBM26_uc001vky.2_Missense_Mutation_p.R149C|RBM26_uc001vla.2_Missense_Mutation_p.R149C|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_RNA	p.R149C	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	5	459	-		Acute lymphoblastic leukemia(28;0.0279)	149			Arg-rich.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.445C>T		.	.	.	.	.	.	.	.	.	.	G	20.1	3.938212	0.73557	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.28895	1.59;1.59	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.985;0.994	T	0.29549	-1.0008	9	.	.	.	-10.2332	18.2455	0.89984	0.0:0.0:1.0:0.0	.	149;149;149	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	C	149;150;149;149	ENSP00000267229:R149C;ENSP00000390222:R149C	.	R	-	1	0	RBM26	78843270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.344000	0.97050	2.328000	0.79073	0.557000	0.71058	CGT		0.383	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		27	23	0	0	0	0.125774	0	27	23		
MIS18BP1	55320	broad.mit.edu	37	14	45673353	45673353	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:45673353C>T	ENST00000310806.4	-	17	3816	c.3358G>A	c.(3358-3360)Gaa>Aaa	p.E1120K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1120					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTTTCTCTTCTTCATCTAAA	0.289																																						uc001wwf.2		NaN																	0					0						c.(3358-3360)GAA>AAA		chromosome 14 open reading frame 106							31.0	34.0	33.0					14																	45673353		2199	4277	6476	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45673353C>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3358G>A	14.37:g.45673353C>T	ENSP00000309790:p.Glu1120Lys						p.E1120K	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			17	3817	-			1120					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.3358G>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081870	0.94050	.	.	ENSG00000129534	ENST00000310806	T	0.28895	1.59	5.66	5.66	0.87406	.	0.145914	0.64402	N	0.000011	T	0.57858	0.2082	M	0.73598	2.24	0.48762	D	0.999708	D	0.67145	0.996	D	0.72338	0.977	T	0.60316	-0.7287	10	0.87932	D	0	-29.7388	18.3146	0.90215	0.0:1.0:0.0:0.0	.	1120	Q6P0N0	M18BP_HUMAN	K	1120	ENSP00000309790:E1120K	ENSP00000309790:E1120K	E	-	1	0	MIS18BP1	44743103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.505000	0.60421	2.671000	0.90904	0.555000	0.69702	GAA		0.289	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2				20	28	0	0	0	0.204396	0	20	28		
SOCS4	122809	broad.mit.edu	37	14	55509991	55509991	+	Silent	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:55509991T>C	ENST00000395472.2	+	2	564	c.232T>C	c.(232-234)Tta>Cta	p.L78L	SOCS4_ENST00000339298.2_Silent_p.L78L|SOCS4_ENST00000555846.1_Silent_p.L78L	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	78					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGAGTTGGACTTAGATCATTC	0.423																																						uc001xbo.2		NaN																	0				ovary(1)|kidney(1)	2						c.(232-234)TTA>CTA		suppressor of cytokine signaling 4							157.0	144.0	148.0					14																	55509991		2203	4300	6503	SO:0001819	synonymous_variant	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55509991T>C	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.232T>C	14.37:g.55509991T>C						SOCS4_uc001xbp.2_Silent_p.L78L	p.L78L	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN			3	797	+			78						Silent	SNP	ENST00000395472.2	37	c.232T>C	CCDS9722.1																																																																																				0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1				55	74	0	0	0	0.323286	0	55	74		
SYNE2	23224	broad.mit.edu	37	14	64457725	64457725	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:64457725C>G	ENST00000344113.4	+	21	2750	c.2538C>G	c.(2536-2538)atC>atG	p.I846M	SYNE2_ENST00000554584.1_Missense_Mutation_p.I846M|SYNE2_ENST00000358025.3_Missense_Mutation_p.I846M|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	846					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTTGGACATCAGGCTGAAGA	0.423																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(2536-2538)ATC>ATG		spectrin repeat containing, nuclear envelope 2							84.0	80.0	81.0					14																	64457725		1841	4095	5936	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64457725C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2538C>G	14.37:g.64457725C>G	ENSP00000341781:p.Ile846Met					SYNE2_uc001xgl.2_Missense_Mutation_p.I846M	p.I846M	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	21	2768	+			846			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.2538C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	4.860	0.159852	0.09287	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.58060	0.73;0.73;0.36	6.06	3.99	0.46301	.	1.248610	0.05816	N	0.614788	T	0.39009	0.1062	N	0.19112	0.55	0.21325	N	0.999723	B;B	0.32526	0.257;0.374	B;B	0.33042	0.075;0.157	T	0.36625	-0.9740	10	0.62326	D	0.03	.	4.9832	0.14176	0.0:0.6373:0.2329:0.1298	.	846;846	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	M	846	ENSP00000350719:I846M;ENSP00000341781:I846M;ENSP00000452570:I846M	ENSP00000261678:I846M	I	+	3	3	SYNE2	63527478	0.001000	0.12720	0.006000	0.13384	0.395000	0.30598	-0.184000	0.09698	1.534000	0.49203	0.655000	0.94253	ATC		0.423	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		6	70	0	0	0	0.248553	0	6	70		
SLC8A3	6547	broad.mit.edu	37	14	70518710	70518710	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:70518710G>C	ENST00000381269.2	-	5	2781	c.2028C>G	c.(2026-2028)ttC>ttG	p.F676L	SLC8A3_ENST00000394330.2_Missense_Mutation_p.F33L|SLC8A3_ENST00000533541.1_Missense_Mutation_p.F33L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.F670L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.F674L|SLC8A3_ENST00000357887.3_Missense_Mutation_p.F674L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.F673L|SLC8A3_ENST00000216568.7_Missense_Mutation_p.F47L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	676					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCTGACCTTGAACTCATAGG	0.418																																						uc001xly.2		NaN																	0				skin(3)|ovary(2)|breast(2)	7						c.(2026-2028)TTC>TTG		solute carrier family 8 (sodium/calcium							135.0	118.0	124.0					14																	70518710		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70518710G>C	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2028C>G	14.37:g.70518710G>C	ENSP00000370669:p.Phe676Leu					SLC8A3_uc001xlu.2_Missense_Mutation_p.F33L|SLC8A3_uc001xlv.2_Missense_Mutation_p.F47L|SLC8A3_uc001xlw.2_Missense_Mutation_p.F673L|SLC8A3_uc001xlx.2_Missense_Mutation_p.F674L|SLC8A3_uc001xlz.2_Missense_Mutation_p.F670L|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Missense_Mutation_p.F33L	p.F676L	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	5	2782	-			676			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.2028C>G	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758271	0.69763	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000216568;ENST00000394330;ENST00000534137;ENST00000528359;ENST00000533541	T;T;T;T;T;T;T;T	0.71934	1.77;1.77;1.77;-0.57;-0.61;1.77;1.77;0.64	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.86326	0.5906	M	0.93720	3.45	0.80722	D	1	P;D;D;P;P;B	0.54772	0.823;0.96;0.968;0.811;0.917;0.101	P;P;P;P;P;B	0.62649	0.517;0.905;0.854;0.648;0.731;0.118	D	0.89075	0.3472	10	0.87932	D	0	.	12.8991	0.58115	0.0749:0.0:0.9251:0.0	.	33;670;676;674;673;47	F2Z391;P57103-2;P57103;Q96QG2;Q96QG1;Q5K3P6	.;.;NAC3_HUMAN;.;.;.	L	670;676;674;47;33;673;674;33	ENSP00000349392:F670L;ENSP00000370669:F676L;ENSP00000350560:F674L;ENSP00000216568:F47L;ENSP00000377863:F33L;ENSP00000436688:F673L;ENSP00000433531:F674L;ENSP00000437103:F33L	ENSP00000216568:F47L	F	-	3	2	SLC8A3	69588463	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.734000	0.47368	2.715000	0.92844	0.650000	0.86243	TTC		0.418	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1				12	23	0	0	0	0.09319	0	12	23		
LTBP2	4053	broad.mit.edu	37	14	75052569	75052569	+	Missense_Mutation	SNP	G	G	A	rs143282840		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:75052569G>A	ENST00000261978.4	-	3	1204	c.818C>T	c.(817-819)tCg>tTg	p.S273L	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.S273L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	273					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)		AGCTGGTGGCGACTGTGGTGC	0.647																																						uc001xqa.2		NaN																	0				liver(1)|skin(1)	2						c.(817-819)TCG>TTG		latent transforming growth factor beta binding		A	LEU/SER	0,4406		0,0,2203	45.0	58.0	54.0		818	-9.1	0.0	14	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LTBP2	NM_000428.2	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	273/1822	75052569	2,13004	2203	4300	6503	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.chr14:75052569G>A		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.818C>T	14.37:g.75052569G>A	ENSP00000261978:p.Ser273Leu						p.S273L	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	3	1205	-			273					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.818C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	g	12.71	2.019676	0.35606	0.0	2.33E-4	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78481	-1.17;-1.18	5.02	-9.08	0.00720	.	.	.	.	.	T	0.55721	0.1938	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40627	-0.9553	9	0.37606	T	0.19	.	6.3326	0.21279	0.401:0.0:0.4278:0.1712	.	273	Q14767	LTBP2_HUMAN	L	273	ENSP00000261978:S273L;ENSP00000451477:S273L	ENSP00000261978:S273L	S	-	2	0	LTBP2	74122322	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.362000	0.07602	-0.855000	0.04125	-0.213000	0.12676	TCG		0.647	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428		11	29	0	0	0	0.105934	0	11	29		
IFI27	3429	broad.mit.edu	37	14	94582170	94582170	+	Silent	SNP	G	G	A	rs376868044		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:94582170G>A	ENST00000555744.1	+	4	353	c.165G>A	c.(163-165)gcG>gcA	p.A55A	IFI27_ENST00000557634.1_Silent_p.A45A|IFI27_ENST00000557098.1_Silent_p.A10A|IFI27_ENST00000448882.1_Silent_p.A58A|IFI27_ENST00000298902.5_Silent_p.A55A|IFI27_ENST00000444961.1_Silent_p.A58A			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	55					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		GCTTCACTGCGGCGGGAATCG	0.642																																					GBM(128;797 1667 20895 29868 47129)	uc010tws.1		NaN																	0					0						c.(232-234)GGC>AGC		interferon, alpha-inducible protein 27 isoform		G		0,4400		0,0,2200	27.0	21.0	23.0		165	-4.0	0.0	14		23	1,8597		0,1,4298	no	coding-synonymous	IFI27	NM_005532.3		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		55/120	94582170	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	3429				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion		g.chr14:94582170G>A	X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.165G>A	14.37:g.94582170G>A						IFI27_uc001ycn.1_RNA|IFI27_uc001yco.2_Silent_p.A58A	p.G78S	NM_005532	NP_005523	P40305	IFI27_HUMAN		Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)	4	353	+			Error:Variant_position_missing_in_P40305_after_alignment					Q53YA6|Q6IEC1|Q96BK3	Missense_Mutation	SNP	ENST00000555744.1	37	c.232G>A	CCDS32148.1																																																																																				0.642	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1		NM_005532		6	8	0	0	0	0.217242	0	6	8		
CEP170B	283638	broad.mit.edu	37	14	105349634	105349634	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr14:105349634G>C	ENST00000414716.3	+	8	1068	c.840G>C	c.(838-840)aaG>aaC	p.K280N	CEP170B_ENST00000453495.1_Missense_Mutation_p.K281N|CEP170B_ENST00000556508.1_Missense_Mutation_p.K210N|CEP170B_ENST00000418279.1_Missense_Mutation_p.K210N	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	280						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCCCTGGCAAGATGAAGATCA	0.637																																						uc010axb.2		NaN																	0				breast(1)	1						c.(838-840)AAG>AAC		hypothetical protein LOC283638 isoform 1							43.0	52.0	49.0					14																	105349634		2092	4199	6291	SO:0001583	missense	283638					cytoplasm|microtubule		g.chr14:105349634G>C	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.840G>C	14.37:g.105349634G>C	ENSP00000404151:p.Lys280Asn					INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.K210N|KIAA0284_uc001yps.2_Missense_Mutation_p.K186N	p.K280N	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	8	1064	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	280					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.840G>C	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251517	0.59212	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	3.46	1.59	0.23543	.	0.000000	0.85682	D	0.000000	T	0.55893	0.1949	M	0.82323	2.585	0.40129	D	0.976699	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.987;0.997	T	0.54794	-0.8240	10	0.87932	D	0	-31.8967	5.7071	0.17915	0.5509:0.0:0.4491:0.0	.	280;280;210	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	N	210;280;281;210	ENSP00000451249:K210N;ENSP00000404151:K280N;ENSP00000407238:K281N;ENSP00000415006:K210N	ENSP00000404151:K280N	K	+	3	2	KIAA0284	104420679	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	1.849000	0.39318	0.181000	0.19994	0.436000	0.28706	AAG		0.637	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2		NM_001112726		10	23	0	0	0	0.058154	0	10	23		
RPAP1	26015	broad.mit.edu	37	15	41819472	41819472	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:41819472G>A	ENST00000304330.4	-	13	1755	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.R547W	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	547						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TAGCGCAGCCGAGGCAGCAGG	0.622																																						uc001zod.2		NaN																	0				large_intestine(1)	1						c.(1639-1641)CGG>TGG		RNA polymerase II associated protein 1							36.0	40.0	39.0					15																	41819472		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41819472G>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1639C>T	15.37:g.41819472G>A	ENSP00000306123:p.Arg547Trp						p.R547W	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	13	1763	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	547					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1639C>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290354	0.80914	.	.	ENSG00000103932	ENST00000304330	T	0.35421	1.31	5.35	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71087	-0.4694	10	0.87932	D	0	-18.7358	14.7193	0.69294	0.0:0.0:0.8553:0.1446	.	547	Q9BWH6	RPAP1_HUMAN	W	547	ENSP00000306123:R547W	ENSP00000306123:R547W	R	-	1	2	RPAP1	39606764	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.796000	0.55507	2.659000	0.90383	0.655000	0.94253	CGG		0.622	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2		NM_015540		20	32	0	0	0	0.234183	0	20	32		
CAPN3	825	broad.mit.edu	37	15	42702003	42702003	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:42702003G>A	ENST00000397163.3	+	18	2230	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000349748.3_Missense_Mutation_p.D579N|CAPN3_ENST00000357568.3_Missense_Mutation_p.D665N|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000337571.4_Missense_Mutation_p.D6N|CAPN3_ENST00000356316.3_Missense_Mutation_p.D578N|CAPN3_ENST00000397200.4_Missense_Mutation_p.D159N|CAPN3_ENST00000318023.7_Missense_Mutation_p.D665N|CAPN3_ENST00000397204.4_Missense_Mutation_p.D6N|CAPN3_ENST00000569136.1_Missense_Mutation_p.D6N|CAPN3_ENST00000561817.1_Missense_Mutation_p.D6N	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	671	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GATCTGTGCAGATGAGCTCAA	0.537																																						uc001zpn.1		NaN																	0				central_nervous_system(1)	1						c.(2011-2013)GAT>AAT		calpain 3 isoform a							150.0	143.0	145.0					15																	42702003		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42702003G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2011G>A	15.37:g.42702003G>A	ENSP00000380349:p.Asp671Asn					CAPN3_uc001zpk.1_Missense_Mutation_p.D438N|CAPN3_uc001zpl.1_Missense_Mutation_p.D578N|CAPN3_uc010udf.1_Missense_Mutation_p.D584N|CAPN3_uc010udg.1_Missense_Mutation_p.D536N|CAPN3_uc001zpo.1_Missense_Mutation_p.D665N|CAPN3_uc001zpp.1_Missense_Mutation_p.D579N|CAPN3_uc001zpq.1_Missense_Mutation_p.D159N|CAPN3_uc010bcv.1_Missense_Mutation_p.D6N|CAPN3_uc001zpr.1_Missense_Mutation_p.D6N|CAPN3_uc001zps.1_Missense_Mutation_p.D6N|CAPN3_uc001zpt.1_Missense_Mutation_p.D6N	p.D671N	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	18	2317	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	671			EF-hand 1.|Domain IV.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.2011G>A	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532567	0.45073	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	4.79	4.79	0.61399	EF-hand-like domain (1);	0.123301	0.53938	U	0.000058	T	0.59528	0.2200	N	0.01515	-0.825	0.40527	D	0.980897	B;B;B;B;B;B;B	0.16603	0.01;0.018;0.003;0.008;0.014;0.008;0.002	B;B;B;B;B;B;B	0.26864	0.019;0.074;0.013;0.011;0.044;0.02;0.029	T	0.58194	-0.7679	10	0.14656	T	0.56	.	18.0246	0.89264	0.0:0.0:1.0:0.0	.	536;584;6;579;665;671;578	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	N	578;159;671;665;579;665;159;6;6	ENSP00000348667:D578N;ENSP00000380349:D671N;ENSP00000350181:D665N;ENSP00000183936:D579N;ENSP00000326281:D665N;ENSP00000380384:D159N;ENSP00000336840:D6N;ENSP00000380387:D6N	ENSP00000326281:D665N	D	+	1	0	CAPN3	40489295	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.775000	0.68915	2.480000	0.83734	0.491000	0.48974	GAT		0.537	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1				118	129	0	0	0	0.323286	0	118	129		
TGM5	9333	broad.mit.edu	37	15	43552710	43552710	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:43552710G>A	ENST00000220420.5	-	2	85	c.78C>T	c.(76-78)atC>atT	p.I26I	TGM5_ENST00000349114.4_Silent_p.I26I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	26					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGTCCACAGTGATCTCCTCCG	0.577																																						uc001zrd.1		NaN																	0				central_nervous_system(1)	1						c.(76-78)ATC>ATT		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						117.0	120.0	119.0					15																	43552710		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43552710G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.78C>T	15.37:g.43552710G>A						TGM5_uc001zre.1_Silent_p.I26I	p.I26I	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	2	86	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	26					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.78C>T	CCDS32212.1																																																																																				0.577	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1		NM_004245		68	69	0	0	0	0.323286	0	68	69		
FBXO22	26263	broad.mit.edu	37	15	76206519	76206519	+	Missense_Mutation	SNP	C	C	G	rs372221349		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr15:76206519C>G	ENST00000308275.3	+	4	541	c.436C>G	c.(436-438)Ctt>Gtt	p.L146V	FBXO22_ENST00000540507.1_Missense_Mutation_p.L42V|FBXO22_ENST00000453211.2_Missense_Mutation_p.L146V	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	146					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.L146F(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATGCCAAGTCCTTGGGATTGT	0.383																																						uc002bbk.2		NaN																	2	Substitution - Missense(2)		lung(2)		0						c.(436-438)CTT>GTT		F-box only protein 22 isoform a							103.0	90.0	94.0					15																	76206519		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76206519C>G	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.436C>G	15.37:g.76206519C>G	ENSP00000307833:p.Leu146Val					FBXO22_uc002bbj.1_Missense_Mutation_p.L146V|FBXO22_uc002bbl.2_Missense_Mutation_p.L42V	p.L146V	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			4	541	+			146					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.436C>G	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294050	0.60086	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.44	5.44	0.79542	.	0.137004	0.49305	D	0.000145	T	0.62575	0.2439	N	0.19112	0.55	0.54753	D	0.999983	D;D	0.67145	0.991;0.996	P;D	0.80764	0.723;0.994	T	0.62315	-0.6880	9	0.36615	T	0.2	-23.4066	15.9736	0.80040	0.0:1.0:0.0:0.0	.	146;146	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	V	146;146;42	.	ENSP00000307833:L146V	L	+	1	0	FBXO22	73993574	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	4.510000	0.60455	2.541000	0.85698	0.650000	0.86243	CTT		0.383	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2		NM_147188		18	43	0	0	0	0.249174	0	18	43		
PKD1	5310	broad.mit.edu	37	16	2142498	2142498	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:2142498T>A	ENST00000262304.4	-	39	11460	c.11252A>T	c.(11251-11253)cAg>cTg	p.Q3751L	MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.Q3750L|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3751			Missing (in PKD1). {ECO:0000269|PubMed:10647901, ECO:0000269|PubMed:8554072}.|Q -> R (in PKD1). {ECO:0000269|PubMed:12842373}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCCGCACCTGCCGCAGCCG	0.652																																						uc002cos.1		NaN																	0				central_nervous_system(2)|skin(1)	3	GRCh37	CM034122	PKD1	M		c.(11251-11253)CAG>CTG		polycystin 1 isoform 1 precursor							21.0	26.0	25.0					16																	2142498		2188	4294	6482	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2142498T>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11252A>T	16.37:g.2142498T>A	ENSP00000262304:p.Gln3751Leu					PKD1_uc002cot.1_Missense_Mutation_p.Q3750L|MIR1225_hsa-mir-1225|MI0006311_5'Flank|PKD1_uc010bse.1_RNA	p.Q3751L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			39	11461	-			3751		Q -> R (in ADPKD1).|Missing (in ADPKD1).	Polycystin motif.|Extracellular (Potential).		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.11252A>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.838203	0.71373	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.75367	-0.93;-0.93	4.04	4.04	0.47022	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.82788	0.5113	M	0.74881	2.28	0.58432	D	0.999997	P;D	0.60160	0.831;0.987	P;P	0.60286	0.511;0.872	D	0.85171	0.0998	10	0.66056	D	0.02	.	13.1559	0.59516	0.0:0.0:0.0:1.0	.	3750;3751	P98161-3;P98161	.;PKD1_HUMAN	L	3751;3750;3085	ENSP00000262304:Q3751L;ENSP00000399501:Q3750L	ENSP00000262304:Q3751L	Q	-	2	0	PKD1	2082499	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.870000	0.56070	1.699000	0.51192	0.260000	0.18958	CAG		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1				6	13	0	0	0	0.080935	0	6	13		
C16orf71	146562	broad.mit.edu	37	16	4790239	4790239	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:4790239G>A	ENST00000299320.5	+	4	840	c.362G>A	c.(361-363)aGa>aAa	p.R121K	C16orf71_ENST00000590191.1_Missense_Mutation_p.R135K|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	121										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGGAAGGAAGAGACCCTGGC	0.572																																						uc002cxn.2		NaN																	0				central_nervous_system(1)	1						c.(361-363)AGA>AAA		hypothetical protein LOC146562							103.0	104.0	104.0					16																	4790239		2197	4300	6497	SO:0001583	missense	146562							g.chr16:4790239G>A	AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.362G>A	16.37:g.4790239G>A	ENSP00000299320:p.Arg121Lys						p.R121K	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN			4	824	+			121					Q8NCV0	Missense_Mutation	SNP	ENST00000299320.5	37	c.362G>A	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	G	3.811	-0.039802	0.07497	.	.	ENSG00000166246	ENST00000299320	T	0.12147	2.71	3.9	0.863	0.19062	.	1.212030	0.06093	N	0.664001	T	0.07728	0.0194	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.38993	-0.9635	10	0.08381	T	0.77	-3.378	5.6305	0.17508	0.3543:0.0:0.6457:0.0	.	121	Q8IYS4	CP071_HUMAN	K	121	ENSP00000299320:R121K	ENSP00000299320:R121K	R	+	2	0	C16orf71	4730240	0.005000	0.15991	0.017000	0.16124	0.016000	0.09150	0.131000	0.15870	0.439000	0.26476	-0.480000	0.04831	AGA		0.572	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1		NM_139170		38	55	0	0	0	0.279185	0	38	55		
CACNG3	10368	broad.mit.edu	37	16	24372924	24372924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:24372924C>T	ENST00000005284.3	+	4	1890	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	230					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACAGGTATCGATTCCGGAG	0.537																																						uc002dmf.2		NaN																	0					0						c.(688-690)CGA>TGA		voltage-dependent calcium channel gamma-3							85.0	83.0	84.0					16																	24372924		2197	4300	6497	SO:0001587	stop_gained	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24372924C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.688C>T	16.37:g.24372924C>T	ENSP00000005284:p.Arg230*						p.R230*	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	1888	+			230						Nonsense_Mutation	SNP	ENST00000005284.3	37	c.688C>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	C	46	12.834140	0.99700	.	.	ENSG00000006116	ENST00000005284	.	.	.	4.96	1.32	0.21799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1498	15.8034	0.78473	0.2955:0.7045:0.0:0.0	.	.	.	.	X	230	.	ENSP00000005284:R230X	R	+	1	2	CACNG3	24280425	0.993000	0.37304	0.988000	0.46212	0.995000	0.86356	0.962000	0.29280	-0.059000	0.13154	-0.262000	0.10625	CGA		0.537	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1		NM_006539		15	41	0	0	0	0.175082	0	15	41		
RABEP2	79874	broad.mit.edu	37	16	28935803	28935803	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:28935803C>G	ENST00000358201.4	-	2	783	c.195G>C	c.(193-195)gaG>gaC	p.E65D	RABEP2_ENST00000357573.6_Missense_Mutation_p.E65D|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_Intron	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	65					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTTCGTGCTCTCGCTCACCT	0.647																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(193-195)GAG>GAC		rabaptin, RAB GTPase binding effector protein 2							58.0	62.0	60.0					16																	28935803		2123	4250	6373	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28935803C>G	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.195G>C	16.37:g.28935803C>G	ENSP00000350934:p.Glu65Asp					uc010vct.1_Intron|RABEP2_uc010vdf.1_Intron|RABEP2_uc010byn.2_Missense_Mutation_p.E65D|RABEP2_uc002drr.2_Missense_Mutation_p.E65D	p.E65D	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			2	243	-			65			Potential.			Missense_Mutation	SNP	ENST00000358201.4	37	c.195G>C	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549911	0.45383	.	.	ENSG00000177548	ENST00000358201;ENST00000357573	T;T	0.62105	0.08;0.05	4.29	2.3	0.28687	Rabaptin coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.70622	0.3245	L	0.54323	1.7	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.997	D;D;D	0.85130	0.987;0.997;0.992	T	0.69053	-0.5247	10	0.87932	D	0	-20.5243	8.0471	0.30555	0.0:0.7207:0.0:0.2793	.	65;65;65	Q9H5N1-2;Q49AT6;Q9H5N1	.;.;RABE2_HUMAN	D	65	ENSP00000350934:E65D;ENSP00000350186:E65D	ENSP00000350186:E65D	E	-	3	2	RABEP2	28843304	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.581000	0.23819	0.381000	0.24851	0.555000	0.69702	GAG		0.647	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1		NM_024816		4	88	0	0	0	0.217242	0	4	88		
IRX5	10265	broad.mit.edu	37	16	54965196	54965196	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:54965196C>T	ENST00000394636.4	+	1	423	c.86C>T	c.(85-87)tCg>tTg	p.S29L	IRX5_ENST00000560154.1_Missense_Mutation_p.S29L|IRX5_ENST00000558597.1_5'Flank|IRX5_ENST00000320990.5_Missense_Mutation_p.S29L|CRNDE_ENST00000560208.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	29					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AGCGTCATTTCGGGGCCCCGC	0.682																																						uc002ehv.2		NaN																	0					0						c.(85-87)TCG>TTG		iroquois homeobox protein 5							24.0	24.0	24.0					16																	54965196		2195	4297	6492	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54965196C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.86C>T	16.37:g.54965196C>T	ENSP00000378132:p.Ser29Leu					uc010vhb.1_5'Flank|uc010vhc.1_5'Flank|uc002ehu.1_5'Flank|IRX5_uc010cca.1_Missense_Mutation_p.S29L|IRX5_uc002ehw.2_5'Flank	p.S29L	NM_005853	NP_005844	P78411	IRX5_HUMAN			1	86	+			29					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.86C>T	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244765	0.79912	.	.	ENSG00000176842	ENST00000394636;ENST00000320990;ENST00000447390	T;T	0.59772	0.24;0.24	5.17	5.17	0.71159	.	0.130904	0.53938	D	0.000050	T	0.67757	0.2927	L	0.34521	1.04	0.80722	D	1	D;B	0.76494	0.999;0.409	D;B	0.77557	0.99;0.06	T	0.70637	-0.4817	10	0.62326	D	0.03	-11.6049	17.6538	0.88172	0.0:1.0:0.0:0.0	.	29;29	A2RRB5;P78411	.;IRX5_HUMAN	L	29	ENSP00000378132:S29L;ENSP00000316250:S29L	ENSP00000316250:S29L	S	+	2	0	IRX5	53522697	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.070000	0.76763	2.405000	0.81733	0.561000	0.74099	TCG		0.682	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2				6	11	0	0	0	0.248553	0	6	11		
GNAO1	2775	broad.mit.edu	37	16	56368731	56368731	+	Missense_Mutation	SNP	C	C	G	rs370565559		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:56368731C>G	ENST00000262493.6	+	5	1401	c.555C>G	c.(553-555)atC>atG	p.I185M	GNAO1_ENST00000262494.7_Missense_Mutation_p.I185M	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	185					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CCACTGGCATCGTAGAAACCC	0.612																																						uc002eit.3		NaN																	0				lung(1)|breast(1)	2						c.(553-555)ATC>ATG		guanine nucleotide binding protein, alpha							88.0	68.0	75.0					16																	56368731		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56368731C>G		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.555C>G	16.37:g.56368731C>G	ENSP00000262493:p.Ile185Met					GNAO1_uc002eiu.3_Missense_Mutation_p.I185M	p.I185M	NM_138736	NP_620073	P09471	GNAO_HUMAN			5	1452	+		all_neural(199;0.159)	185					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.555C>G	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985258	0.74474	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.91068	-2.78;-2.78	5.43	0.124	0.14714	.	0.000000	0.85682	D	0.000000	D	0.95749	0.8617	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94156	0.7410	10	0.87932	D	0	.	9.1812	0.37143	0.0:0.5814:0.0:0.4186	.	185;185	P09471;P09471-2	GNAO_HUMAN;.	M	185	ENSP00000262493:I185M;ENSP00000262494:I185M	ENSP00000262493:I185M	I	+	3	3	GNAO1	54926232	0.688000	0.27680	0.998000	0.56505	0.993000	0.82548	-0.081000	0.11321	0.031000	0.15407	0.563000	0.77884	ATC		0.612	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2		NM_020988		16	27	0	0	0	0.160694	0	16	27		
CDH8	1006	broad.mit.edu	37	16	61858917	61858917	+	Splice_Site	SNP	C	C	T	rs148693252		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:61858917C>T	ENST00000577390.1	-	5	1788	c.834G>A	c.(832-834)caG>caA	p.Q278Q	CDH8_ENST00000584337.1_Splice_Site_p.Q278Q|CDH8_ENST00000577730.1_Splice_Site_p.Q278Q|CDH8_ENST00000299345.6_Splice_Site_p.Q278Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTAACTTACTCTGTGCAAATT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		18252	0.0		0.001	False		,,,				2504	0.0					uc002eog.1		NaN																	0				ovary(6)|skin(2)|breast(1)	9						c.(832-834)CAG>CAA		cadherin 8, type 2 preproprotein		C		0,4406		0,0,2203	92.0	87.0	89.0		834	0.6	1.0	16	dbSNP_134	89	5,8595	3.7+/-12.6	0,5,4295	yes	coding-synonymous-near-splice	CDH8	NM_001796.4		0,5,6498	TT,TC,CC		0.0581,0.0,0.0384		278/800	61858917	5,13001	2203	4300	6503	SO:0001630	splice_region_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61858917C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.835+1G>A	16.37:g.61858917C>T						CDH8_uc002eoh.2_Silent_p.Q47Q	p.Q278Q	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	1086	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	278			Extracellular (Potential).|Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.834G>A	CCDS10802.1																																																																																				0.373	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3		NM_001796	Silent	15	23	0	0	0	0.189662	0	15	23		
ATP2C2	9914	broad.mit.edu	37	16	84495721	84495721	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr16:84495721A>G	ENST00000262429.4	+	26	2797	c.2708A>G	c.(2707-2709)aAc>aGc	p.N903S	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000416219.2_Missense_Mutation_p.N932S|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	903					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGACGGAGAACCTGGGAGCG	0.657																																						uc002fhx.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(2707-2709)AAC>AGC		ATPase, Ca++ transporting, type 2C, member 2							67.0	75.0	73.0					16																	84495721		1954	4153	6107	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84495721A>G	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2708A>G	16.37:g.84495721A>G	ENSP00000262429:p.Asn903Ser					ATP2C2_uc010chj.2_Missense_Mutation_p.N932S|ATP2C2_uc002fhy.2_Missense_Mutation_p.N920S|ATP2C2_uc002fhz.2_Missense_Mutation_p.N752S|ATP2C2_uc002fia.2_Missense_Mutation_p.N214S	p.N903S	NM_014861	NP_055676	O75185	AT2C2_HUMAN			26	2797	+			903			Extracellular (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.2708A>G	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	A	8.966	0.971719	0.18736	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.95482	-3.72;-3.72	5.14	0.385	0.16249	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.237950	0.35235	N	0.003356	D	0.82508	0.5052	N	0.01779	-0.725	0.31256	N	0.693508	B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0	B;B;B;B;B	0.14023	0.01;0.006;0.004;0.006;0.006	T	0.73275	-0.4034	10	0.10636	T	0.68	.	8.5138	0.33233	0.6898:0.0:0.3102:0.0	.	932;752;752;920;903	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	S	932;903;752	ENSP00000397925:N932S;ENSP00000262429:N903S	ENSP00000262429:N903S	N	+	2	0	ATP2C2	83053222	1.000000	0.71417	0.928000	0.36995	0.149000	0.21700	2.811000	0.47986	-0.209000	0.10156	0.459000	0.35465	AAC		0.657	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1		NM_014861		10	81	0	0	0	0.069234	0	10	81		
ZNF287	57336	broad.mit.edu	37	17	16466508	16466508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:16466508C>T	ENST00000395824.1	-	5	1284	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	ZNF287_ENST00000395825.3_Missense_Mutation_p.E223K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	216	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CATGGTTCTTCCAATATGGGA	0.358																																						uc002gqi.2		NaN																	0					0						c.(667-669)GAA>AAA		zinc finger protein 287							77.0	80.0	79.0					17																	16466508		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16466508C>T	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.667G>A	17.37:g.16466508C>T	ENSP00000379168:p.Glu223Lys						p.E223K	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	5	1120	-			216			KRAB.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.667G>A	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261978	0.80358	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.01068	5.38;5.38	4.37	4.37	0.52481	Krueppel-associated box (3);	0.000000	0.51477	D	0.000094	T	0.04724	0.0128	L	0.58969	1.84	0.34057	D	0.656802	D	0.63880	0.993	D	0.70935	0.971	T	0.10222	-1.0639	10	0.66056	D	0.02	.	12.7408	0.57251	0.0:1.0:0.0:0.0	.	216	Q9HBT7	ZN287_HUMAN	K	223	ENSP00000379169:E223K;ENSP00000379168:E223K	ENSP00000379168:E223K	E	-	1	0	ZNF287	16407233	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	3.504000	0.53347	2.718000	0.92993	0.650000	0.86243	GAA		0.358	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1				30	15	0	0	0	0.214465	0	30	15		
MIEN1	84299	broad.mit.edu	37	17	37886006	37886006	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:37886006C>T	ENST00000394231.3	-	3	487	c.196G>A	c.(196-198)Gag>Aag	p.E66K	MIEN1_ENST00000474210.1_5'UTR|MIEN1_ENST00000577810.1_Missense_Mutation_p.E66K|ERBB2_ENST00000584888.1_Intron			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	66					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										ATCTCTATCTCAAAGGCACCT	0.488																																						uc002hsq.2		NaN																	0					0						c.(196-198)GAG>AAG		hypothetical protein LOC84299							111.0	112.0	112.0					17																	37886006		2203	4300	6503	SO:0001583	missense	84299				cell redox homeostasis	cytosol|membrane	selenium binding	g.chr17:37886006C>T	AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.196G>A	17.37:g.37886006C>T	ENSP00000377778:p.Glu66Lys						p.E66K	NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	236	-	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		66						Missense_Mutation	SNP	ENST00000394231.3	37	c.196G>A	CCDS11344.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585128	0.66105	.	.	ENSG00000141741	ENST00000394231	T	0.54479	0.57	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	M	0.92122	3.275	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.83901	0.0290	10	0.66056	D	0.02	-11.3085	18.8259	0.92119	0.0:1.0:0.0:0.0	.	66	Q9BRT3	MIEN1_HUMAN	K	66	ENSP00000377778:E66K	ENSP00000377778:E66K	E	-	1	0	C17orf37	35139532	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.923000	0.56469	2.746000	0.94184	0.591000	0.81541	GAG		0.488	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257020.3		NM_032339		49	88	0	0	0	0.323286	0	49	88		
TUBG2	27175	broad.mit.edu	37	17	40815491	40815491	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:40815491C>G	ENST00000251412.7	+	6	775	c.576C>G	c.(574-576)ctC>ctG	p.L192L		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	192					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCCTGACACTCAAGAGGCTGA	0.527																																						uc010wgr.1		NaN																	0				ovary(1)	1						c.(574-576)CTC>CTG		tubulin, gamma 2							177.0	152.0	160.0					17																	40815491		2203	4300	6503	SO:0001819	synonymous_variant	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40815491C>G	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.576C>G	17.37:g.40815491C>G						TUBG2_uc002iaq.2_Silent_p.L34L|TUBG2_uc002iar.2_Silent_p.L39L|TUBG2_uc002ias.2_Silent_p.L34L|TUBG2_uc002iap.2_Silent_p.L39L	p.L192L	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	6	832	+		Breast(137;0.00116)	192					A6NDI4|Q32NB2	Silent	SNP	ENST00000251412.7	37	c.576C>G	CCDS32658.1																																																																																				0.527	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1		NM_016437		86	111	0	0	0	0.323286	0	86	111		
TEX14	56155	broad.mit.edu	37	17	56651579	56651579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:56651579C>A	ENST00000240361.8	-	23	3575	c.3490G>T	c.(3490-3492)Gag>Tag	p.E1164*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.E1118*|TEX14_ENST00000389934.3_Nonsense_Mutation_p.E1158*			Q8IWB6	TEX14_HUMAN	testis expressed 14	1164					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGGTGACTCCTTTGATGTC	0.368																																						uc010dcz.1		NaN																	0				stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(3490-3492)GAG>TAG		testis expressed sequence 14 isoform a							316.0	261.0	280.0					17																	56651579		2203	4300	6503	SO:0001587	stop_gained	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56651579C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3490G>T	17.37:g.56651579C>A	ENSP00000240361:p.Glu1164*					TEX14_uc002iwr.1_Nonsense_Mutation_p.E1158*|TEX14_uc002iws.1_Nonsense_Mutation_p.E1118*|TEX14_uc010dda.1_Nonsense_Mutation_p.E898*	p.E1164*	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			23	3608	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1164					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.3490G>T	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	38	6.786449	0.97837	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.51	3.5	0.40072	.	0.165679	0.42172	D	0.000756	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.3153	8.8347	0.35104	0.0:0.8246:0.0:0.1754	.	.	.	.	X	1164;1158;1118	.	ENSP00000240361:E1164X	E	-	1	0	TEX14	54006578	0.816000	0.29132	0.220000	0.23810	0.230000	0.25150	1.113000	0.31184	0.790000	0.33803	0.655000	0.94253	GAG		0.368	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1				25	62	1	0	1.13719e-10	0.134883	1.23736e-10	25	62		
KCNH6	81033	broad.mit.edu	37	17	61611651	61611651	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:61611651C>G	ENST00000583023.1	+	5	1091	c.1080C>G	c.(1078-1080)atC>atG	p.I360M	KCNH6_ENST00000580652.1_Missense_Mutation_p.I360M|KCNH6_ENST00000581784.1_Missense_Mutation_p.I360M|KCNH6_ENST00000314672.5_Missense_Mutation_p.I360M|KCNH6_ENST00000456941.2_Missense_Mutation_p.I360M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	360					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTCCTGATCTTCCGCACTG	0.632																																						uc002jay.2		NaN																	0				skin(1)	1						c.(1078-1080)ATC>ATG		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						103.0	80.0	88.0					17																	61611651		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61611651C>G	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1080C>G	17.37:g.61611651C>G	ENSP00000463533:p.Ile360Met					KCNH6_uc002jax.1_Missense_Mutation_p.I360M|KCNH6_uc010wpl.1_Missense_Mutation_p.I237M|KCNH6_uc010wpm.1_Missense_Mutation_p.I360M|KCNH6_uc002jaz.1_Missense_Mutation_p.I360M	p.I360M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			5	1160	+			360			Helical; Name=Segment S3; (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1080C>G	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173449	0.06421	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.94497	-3.44;-3.44	4.0	0.909	0.19332	Ion transport (1);	0.058936	0.64402	D	0.000002	D	0.94272	0.8160	L	0.41079	1.255	0.43014	D	0.994551	D;D;P;D;P	0.63046	0.958;0.983;0.882;0.992;0.746	D;D;P;D;P	0.72338	0.921;0.954;0.871;0.977;0.661	D	0.91930	0.5554	10	0.62326	D	0.03	.	8.5437	0.33408	0.0:0.7441:0.0:0.2559	.	237;360;360;360;360	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	M	360	ENSP00000318212:I360M;ENSP00000396900:I360M	ENSP00000318212:I360M	I	+	3	3	KCNH6	58965383	1.000000	0.71417	0.978000	0.43139	0.330000	0.28571	2.551000	0.45820	0.036000	0.15547	0.305000	0.20034	ATC		0.632	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779		22	63	0	0	0	0.294199	0	22	63		
SRSF2	6427	broad.mit.edu	37	17	74732295	74732295	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:74732295C>A	ENST00000392485.2	-	2	786	c.614G>T	c.(613-615)cGa>cTa	p.R205L	MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000355954.3_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.R205L|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.R193L|MFSD11_ENST00000590514.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	205	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						ACTCTTCGATCGCGACCTGGA	0.542			Mis		"""MDS, CLL"""																																	uc002jsv.2		NaN		Dom	yes		17	17q25	6427		serine/arginine-rich splicing factor 2			L					0					0						c.(613-615)CGA>CTA		splicing factor, arginine/serine-rich 2							83.0	85.0	85.0					17																	74732295		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732295C>A	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.614G>T	17.37:g.74732295C>A	ENSP00000376276:p.Arg205Leu					SFRS2_uc002jsw.1_RNA|SFRS2_uc002jsx.1_RNA|SFRS2_uc002jsy.3_Missense_Mutation_p.R205L|SFRS2_uc010wtg.1_Missense_Mutation_p.R193L|MFSD11_uc002jsz.1_RNA|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtb.2_5'Flank|MFSD11_uc010dha.2_5'Flank|MFSD11_uc002jtc.2_5'Flank|MFSD11_uc002jtd.3_5'Flank|MFSD11_uc010dhb.2_5'Flank|MFSD11_uc002jte.2_5'Flank	p.R205L	NM_003016	NP_003007	Q01130	SRSF2_HUMAN			2	784	-			205			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.614G>T	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120335|3.120335	0.56613|0.56613	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000358156;ENST00000359995	.|T	.|0.17054	.|2.3	5.09|5.09	4.09|4.09	0.47781|0.47781	.|.	.|0.074304	.|0.52532	.|D	.|0.000075	T|T	0.41971|0.41971	0.1182|0.1182	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.53745	.|0.962;0.962	.|D;D	.|0.65010	.|0.931;0.931	T|T	0.45249|0.45249	-0.9274|-0.9274	6|10	0.56958|0.72032	D|D	0.05|0.01	.|.	15.295|15.295	0.73898|0.73898	0.0:0.8591:0.1408:0.0|0.0:0.8591:0.1408:0.0	.|.	.|193;205	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	Y|L	155|205;193;185	.|ENSP00000376276:R205L	ENSP00000391278:D155Y|ENSP00000350877:R193L	D|R	-|-	1|2	0|0	SRSF2|SRSF2	72243890|72243890	0.998000|0.998000	0.40836|0.40836	0.999000|0.999000	0.59377|0.59377	0.987000|0.987000	0.75469|0.75469	3.766000|3.766000	0.55280|0.55280	1.079000|1.079000	0.41038|0.41038	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.542	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1		NM_003016		29	85	1	0	9.78306e-22	0.144211	1.09863e-21	29	85		
SLC26A11	284129	broad.mit.edu	37	17	78225191	78225191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr17:78225191G>T	ENST00000361193.3	+	17	2000	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	SLC26A11_ENST00000546047.2_Nonsense_Mutation_p.E574*|SLC26A11_ENST00000411502.3_Nonsense_Mutation_p.E574*|SLC26A11_ENST00000572725.1_Nonsense_Mutation_p.E574*	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTCTACCCTGGAAGAAGCAGG	0.498																																						uc002jyb.1		NaN																	0					0						c.(1720-1722)GAA>TAA		solute carrier family 26, member 11							142.0	118.0	126.0					17																	78225191		2203	4300	6503	SO:0001587	stop_gained	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78225191G>T		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1720G>T	17.37:g.78225191G>T	ENSP00000355384:p.Glu574*					SLC26A11_uc002jyc.1_Nonsense_Mutation_p.E574*|SLC26A11_uc002jyd.1_Nonsense_Mutation_p.E574*|SLC26A11_uc010dhv.1_Nonsense_Mutation_p.E574*	p.E574*	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		17	1989	+	all_neural(118;0.0538)		574			Extracellular (Potential).|STAS.			Nonsense_Mutation	SNP	ENST00000361193.3	37	c.1720G>T	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	G	36	5.701991	0.96812	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	.	.	.	5.2	3.23	0.37069	.	0.102867	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-12.4507	8.6888	0.34254	0.2269:0.0:0.7731:0.0	.	.	.	.	X	574	.	ENSP00000355384:E574X	E	+	1	0	SLC26A11	75839786	1.000000	0.71417	0.026000	0.17262	0.017000	0.09413	3.823000	0.55715	0.597000	0.29811	-0.498000	0.04607	GAA		0.498	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1				25	83	1	0	1.12875e-08	0.116897	1.20938e-08	25	83		
EMILIN2	84034	broad.mit.edu	37	18	2891297	2891297	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr18:2891297C>T	ENST00000254528.3	+	4	1331	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	391					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.S391*(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CAGGAGCCTTCAGCCCAGGCA	0.488																																						uc002kln.2		NaN																	1	Substitution - Nonsense(1)		endometrium(1)	skin(2)|ovary(1)	3						c.(1171-1173)TCA>TTA		elastin microfibril interfacer 2 precursor							42.0	47.0	45.0					18																	2891297		2203	4299	6502	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891297C>T	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1172C>T	18.37:g.2891297C>T	ENSP00000254528:p.Ser391Leu						p.S391L	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1331	+			391					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.1172C>T	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250587	0.10130	.	.	ENSG00000132205	ENST00000254528	T	0.38077	1.16	5.56	4.68	0.58851	.	0.998083	0.08113	N	0.995881	T	0.31734	0.0806	L	0.40543	1.245	0.09310	N	1	B	0.28439	0.212	B	0.20577	0.03	T	0.19582	-1.0301	10	0.24483	T	0.36	-0.3085	13.1666	0.59575	0.0:0.9248:0.0:0.0752	.	391	Q9BXX0	EMIL2_HUMAN	L	391	ENSP00000254528:S391L	ENSP00000254528:S391L	S	+	2	0	EMILIN2	2881297	0.002000	0.14202	0.003000	0.11579	0.084000	0.17831	1.529000	0.35996	1.306000	0.44926	0.557000	0.71058	TCA		0.488	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048		27	34	0	0	0	0.294199	0	27	34		
C18orf25	147339	broad.mit.edu	37	18	43796552	43796552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr18:43796552G>T	ENST00000282059.6	+	2	1080	c.706G>T	c.(706-708)Gag>Tag	p.E236*	C18orf25_ENST00000321319.6_Nonsense_Mutation_p.E236*	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	236										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						AATCACTGCAGAGATACCAGG	0.433																																						uc002lbw.2		NaN																	0				central_nervous_system(2)	2						c.(706-708)GAG>TAG		ARKadia-like 1 isoform a							29.0	29.0	29.0					18																	43796552		1948	4166	6114	SO:0001587	stop_gained	147339							g.chr18:43796552G>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.706G>T	18.37:g.43796552G>T	ENSP00000282059:p.Glu236*					C18orf25_uc002lbx.2_Nonsense_Mutation_p.E236*	p.E236*	NM_145055	NP_659492	Q96B23	CR025_HUMAN			2	1085	+			236					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Nonsense_Mutation	SNP	ENST00000282059.6	37	c.706G>T	CCDS42430.1	.	.	.	.	.	.	.	.	.	.	G	38	7.265622	0.98175	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.59	5.59	0.84812	.	0.052137	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.2151	19.6126	0.95616	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000282059:E236X	E	+	1	0	C18orf25	42050550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.214000	0.77958	2.654000	0.90174	0.655000	0.94253	GAG		0.433	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1		NM_145055		9	17	1	0	0.000442599	0.058154	0.000449014	9	17		
DENND1C	79958	broad.mit.edu	37	19	6476930	6476930	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:6476930C>T	ENST00000381480.2	-	10	728	c.616G>A	c.(616-618)Ggg>Agg	p.G206R	DENND1C_ENST00000591030.1_5'Flank|DENND1C_ENST00000543576.1_Missense_Mutation_p.G162R	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	206	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCGAACAGCCCCACGATGTTC	0.672																																						uc002mfe.2		NaN																	0				large_intestine(1)	1						c.(616-618)GGG>AGG		DENN/MADD domain containing 1C							37.0	43.0	41.0					19																	6476930		1995	4166	6161	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6476930C>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.616G>A	19.37:g.6476930C>T	ENSP00000370889:p.Gly206Arg					DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.G162R	p.G206R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			10	708	-			206			DENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.616G>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	c	15.58	2.875059	0.51695	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.10763	2.84;2.84	4.73	3.61	0.41365	DENN (3);	0.359251	0.26345	N	0.024910	T	0.07999	0.0200	L	0.28776	0.89	0.35115	D	0.766544	B	0.26577	0.153	B	0.30401	0.115	T	0.18713	-1.0328	10	0.11182	T	0.66	-13.5505	10.6867	0.45848	0.0:0.6654:0.3346:0.0	.	206	Q8IV53	DEN1C_HUMAN	R	206;162	ENSP00000370889:G206R;ENSP00000437805:G162R	ENSP00000370889:G206R	G	-	1	0	DENND1C	6427930	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.428000	0.59894	2.173000	0.68751	0.556000	0.70494	GGG		0.672	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2		NM_024898		7	35	0	0	0	0.27861	0	7	35		
IL27RA	9466	broad.mit.edu	37	19	14159887	14159887	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:14159887G>T	ENST00000263379.2	+	9	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	412	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGTTCAGGGAGGAATTAGGTA	0.602											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2		NaN																	0					0						c.(1234-1236)GAG>GAT		class I cytokine receptor precursor							63.0	63.0	63.0					19																	14159887		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14159887G>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1236G>T	19.37:g.14159887G>T	ENSP00000263379:p.Glu412Asp		OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	693		p.E412D	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			9	1659	+			412			Extracellular (Potential).		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.1236G>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634764	0.47049	.	.	ENSG00000104998	ENST00000263379	T	0.53423	0.62	4.25	3.22	0.36961	.	0.368721	0.19812	N	0.105508	T	0.44891	0.1315	M	0.68317	2.08	0.30512	N	0.769339	P	0.43750	0.816	B	0.41440	0.357	T	0.53422	-0.8441	10	0.62326	D	0.03	.	7.6327	0.28249	0.1152:0.0:0.8848:0.0	.	412	Q6UWB1	I27RA_HUMAN	D	412	ENSP00000263379:E412D	ENSP00000263379:E412D	E	+	3	2	IL27RA	14020887	1.000000	0.71417	0.698000	0.30274	0.531000	0.34715	1.519000	0.35888	1.014000	0.39417	0.448000	0.29417	GAG		0.602	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1		NM_004843		5	66	1	0	1.23904e-05	0.184627	1.27548e-05	5	66		
CEACAM5	1048	broad.mit.edu	37	19	42222226	42222226	+	Missense_Mutation	SNP	G	G	A	rs376701458		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:42222226G>A	ENST00000221992.6	+	6	1531	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R	CEACAM5_ENST00000398599.4_Missense_Mutation_p.G472R|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G473R	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	473	Ig-like 5.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GAAGAACAGCGGACTCTATAC	0.502																																						uc002ork.2		NaN																	0				skin(2)	2						c.(1417-1419)GGA>AGA		carcinoembryonic antigen-related cell adhesion		A	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	93.0	76.0	82.0		1417	1.3	0.0	19		82	0,8600		0,0,4300	no	missense	CEACAM5	NM_004363.2	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	473/703	42222226	1,13005	2203	4300	6503	SO:0001583	missense	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42222226G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1417G>A	19.37:g.42222226G>A	ENSP00000221992:p.Gly473Arg					CEACAM5_uc002orj.1_Missense_Mutation_p.G472R|CEACAM5_uc002orl.2_Missense_Mutation_p.G473R	p.G473R	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	6	1538	+			473			Ig-like 5.		H9KVA7	Missense_Mutation	SNP	ENST00000221992.6	37	c.1417G>A	CCDS12584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.32|11.32	1.603179|1.603179	0.28534|0.28534	2.27E-4|2.27E-4	0.0|0.0	ENSG00000105388|ENSG00000105388	ENST00000221992;ENST00000405816;ENST00000378181|ENST00000398599	D;D|.	0.83992|.	-1.79;-1.79|.	2.39|2.39	1.33|1.33	0.21861|0.21861	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.66655|0.66655	0.2811|0.2811	H|H	0.94503|0.94503	3.545|3.545	0.09310|0.09310	N|N	1|1	D;B|.	0.89917|.	1.0;0.307|.	D;B|.	0.97110|.	1.0;0.177|.	T|T	0.58487|0.58487	-0.7628|-0.7628	9|5	0.87932|.	D|.	0|.	.|.	5.3903|5.3903	0.16240|0.16240	0.1678:0.0:0.8322:0.0|0.1678:0.0:0.8322:0.0	.|.	473;473|.	P06731;Q53G30|.	CEAM5_HUMAN;.|.	R|Q	473;473;191|468	ENSP00000221992:G473R;ENSP00000385072:G473R|.	ENSP00000221992:G473R|.	G|R	+|+	1|2	0|0	CEACAM5|CEACAM5	46914066|46914066	0.230000|0.230000	0.23740|0.23740	0.018000|0.018000	0.16275|0.16275	0.001000|0.001000	0.01503|0.01503	0.716000|0.716000	0.25836|0.25836	0.590000|0.590000	0.29694|0.29694	-0.267000|-0.267000	0.10333|0.10333	GGA|CGG		0.502	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2		NM_004363		4	79	0	0	0	0.150653	0	4	79		
CLPTM1	1209	broad.mit.edu	37	19	45496010	45496010	+	Missense_Mutation	SNP	C	C	T	rs141261045		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:45496010C>T	ENST00000337392.5	+	14	2015	c.1865C>T	c.(1864-1866)aCg>aTg	p.T622M	CLPTM1_ENST00000546079.1_Missense_Mutation_p.T520M|CLPTM1_ENST00000541297.2_Missense_Mutation_p.T608M	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	622					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGGGCCCTCACGCCCACACCT	0.711																																						uc002pai.2		NaN																	0				ovary(1)	1						c.(1864-1866)ACG>ATG		cleft lip and palate associated transmembrane		C	MET/THR	0,4406		0,0,2203	60.0	65.0	63.0		1865	4.7	0.1	19	dbSNP_134	63	1,8597	1.2+/-3.3	0,1,4298	no	missense	CLPTM1	NM_001294.2	81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	622/670	45496010	1,13003	2203	4299	6502	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45496010C>T	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1865C>T	19.37:g.45496010C>T	ENSP00000336994:p.Thr622Met					CLPTM1_uc010xxf.1_Missense_Mutation_p.T520M|CLPTM1_uc010xxg.1_Missense_Mutation_p.T608M	p.T622M	NM_001294	NP_001285	O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	14	1880	+		all_neural(266;0.224)|Ovarian(192;0.231)	622			Cytoplasmic (Potential).		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1865C>T	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	C	9.803	1.181190	0.21787	0.0	1.16E-4	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.73	4.73	0.59995	.	1.664970	0.02729	N	0.114903	T	0.25494	0.0620	N	0.08118	0	0.09310	N	1	B;B	0.33748	0.423;0.298	B;B	0.29077	0.098;0.045	T	0.28038	-1.0056	9	0.49607	T	0.09	1.9136	13.1176	0.59309	0.0:1.0:0.0:0.0	.	608;622	F5H8J3;O96005	.;CLPT1_HUMAN	M	520;608;622;622	.	ENSP00000336994:T622M	T	+	2	0	CLPTM1	50187850	0.034000	0.19679	0.145000	0.22337	0.154000	0.21943	2.902000	0.48703	2.456000	0.83038	0.650000	0.86243	ACG		0.711	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1		NM_001294		6	70	0	0	0	0.217242	0	6	70		
PRR12	57479	broad.mit.edu	37	19	50102618	50102618	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:50102618G>A	ENST00000418929.2	+	5	3780	c.3768G>A	c.(3766-3768)tcG>tcA	p.S1256S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCTGGACTCGAGCCTGACTC	0.567																																						uc002poo.3		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(3766-3768)TCG>TCA		proline rich 12							26.0	28.0	28.0					19																	50102618		2089	4229	6318	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50102618G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3768G>A	19.37:g.50102618G>A							p.S1256S	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	5	3768	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	435			Pro-rich.		E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.3768G>A	CCDS46143.1																																																																																				0.567	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1		NM_020719		6	34	0	0	0	0.217242	0	6	34		
ZNF432	9668	broad.mit.edu	37	19	52537344	52537344	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:52537344C>T	ENST00000594154.1	-	5	1800	c.1588G>A	c.(1588-1590)Gta>Ata	p.V530I	ZNF432_ENST00000221315.5_Missense_Mutation_p.V530I			O94892	ZN432_HUMAN	zinc finger protein 432	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCTGGTGTACAACAAGATTG	0.413																																						uc002pyk.2		NaN																	0				breast(2)|pancreas(1)	3						c.(1588-1590)GTA>ATA		zinc finger protein 432							108.0	98.0	101.0					19																	52537344		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537344C>T	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1588G>A	19.37:g.52537344C>T	ENSP00000470488:p.Val530Ile						p.V530I	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1906	-		all_neural(266;0.117)	530			C2H2-type 12.			Missense_Mutation	SNP	ENST00000594154.1	37	c.1588G>A	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	4.027	0.002490	0.07819	.	.	ENSG00000256087	ENST00000221315	T	0.07567	3.18	2.81	2.81	0.32909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	N	0.13299	0.325	0.09310	N	1	B	0.21071	0.051	B	0.19391	0.025	T	0.39187	-0.9626	9	0.27785	T	0.31	.	3.5933	0.07997	0.2492:0.6137:0.0:0.1371	.	530	O94892	ZN432_HUMAN	I	530	ENSP00000221315:V530I	ENSP00000221315:V530I	V	-	1	0	ZNF432	57229156	0.000000	0.05858	0.998000	0.56505	0.994000	0.84299	-1.258000	0.02863	1.577000	0.49804	0.655000	0.94253	GTA		0.413	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1		NM_014650		44	108	0	0	0	0.301197	0	44	108		
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	G	A	rs113700997	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:52942411G>A	ENST00000332323.6	+	4	1798	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_ENST00000433050.1_Silent_p.A566A|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	579					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)	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443																																						uc002pzk.2		NaN																	4	Substitution - coding silent(4)		kidney(4)		0						c.(1735-1737)GCG>GCA		zinc finger protein 534 isoform 2							63.0	62.0	62.0					19																	52942411		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942411G>A	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1737G>A	19.37:g.52942411G>A						ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Silent_p.A566A	p.A579A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	1798	+			579			C2H2-type 14.		Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1737G>A	CCDS46165.1																																																																																				0.443	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1		NM_182512		3	25	0	0	0	0.115264	0	3	25		
ZNF765	91661	broad.mit.edu	37	19	53911005	53911005	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:53911005G>C	ENST00000396408.3	+	4	314	c.197G>C	c.(196-198)aGa>aCa	p.R66T	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CAAGGCAATAGAGAAGTGTTC	0.358																																						uc010ydx.1		NaN																	0					0						c.(196-198)AGA>ACA		zinc finger protein 765							68.0	69.0	69.0					19																	53911005		2192	4295	6487	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911005G>C	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.197G>C	19.37:g.53911005G>C	ENSP00000379689:p.Arg66Thr					ZNF765_uc002qbm.2_Missense_Mutation_p.R66T|ZNF765_uc002qbn.2_Intron	p.R66T	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	524	+			66			KRAB.		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.197G>C	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.233830	0.00277	.	.	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.07688	3.17;4.42	1.21	-2.42	0.06542	Krueppel-associated box (3);	.	.	.	.	T	0.05090	0.0136	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44034	-0.9354	8	.	.	.	.	1.6831	0.02835	0.2749:0.0:0.4027:0.3224	.	66	Q7L2R6	ZN765_HUMAN	T	66;13	ENSP00000379689:R66T;ENSP00000421579:R13T	.	R	+	2	0	ZNF765	58602817	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-0.198000	0.09505	-0.263000	0.09378	0.174000	0.16983	AGA		0.358	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1		NM_138372		38	57	0	0	0	0.279185	0	38	57		
LILRB2	10288	broad.mit.edu	37	19	54783434	54783434	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:54783434G>T	ENST00000391749.4	-	5	695	c.424C>A	c.(424-426)Ctc>Atc	p.L142I	LILRB2_ENST00000391748.1_Missense_Mutation_p.L142I|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000434421.1_Missense_Mutation_p.L26I|LILRB2_ENST00000314446.5_Missense_Mutation_p.L142I|LILRB2_ENST00000391746.1_Missense_Mutation_p.L142I	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	142	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L142V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCACACTGGAGGGTCACCCTT	0.582																																						uc002qfb.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(424-426)CTC>ATC		leukocyte immunoglobulin-like receptor,							102.0	99.0	100.0					19																	54783434		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783434G>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.424C>A	19.37:g.54783434G>T	ENSP00000375629:p.Leu142Ile					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L142I|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L142I|LILRB2_uc010yet.1_Missense_Mutation_p.L26I|LILRB2_uc010yeu.1_RNA	p.L142I	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	690	-	Ovarian(34;0.19)		142			Extracellular (Potential).|Ig-like C2-type 2.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.424C>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813256	0.32053	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	2.58	2.58	0.30949	Immunoglobulin-like fold (1);	0.000000	0.46758	D	0.000265	T	0.24314	0.0589	M	0.91300	3.195	0.09310	N	1	B;B;B	0.25105	0.047;0.006;0.118	B;B;B	0.42692	0.285;0.189;0.395	T	0.13150	-1.0520	10	0.59425	D	0.04	.	9.3655	0.38221	0.0:0.0:1.0:0.0	.	142;159;142	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	I	142;142;142;142;26	ENSP00000375628:L142I;ENSP00000319960:L142I;ENSP00000375629:L142I;ENSP00000375626:L142I;ENSP00000410117:L26I	ENSP00000319960:L142I	L	-	1	0	LILRB2	59475246	0.249000	0.23941	0.013000	0.15412	0.010000	0.07245	2.093000	0.41710	1.428000	0.47296	0.472000	0.43445	CTC		0.582	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1				22	146	1	0	4.26978e-12	0.279207	4.67007e-12	22	146		
PTPRH	5794	broad.mit.edu	37	19	55716720	55716720	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:55716720G>C	ENST00000376350.3	-	4	615	c.593C>G	c.(592-594)tCc>tGc	p.S198C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGTCTCCCGGGAGCTGTTGAT	0.507																																						uc002qjq.2		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(592-594)TCC>TGC		protein tyrosine phosphatase, receptor type, H							140.0	141.0	140.0					19																	55716720		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55716720G>C		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.593C>G	19.37:g.55716720G>C	ENSP00000365528:p.Ser198Cys					PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.S205C	p.S198C	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	4	666	-		Renal(1328;0.245)	198			Fibronectin type-III 2.|Extracellular (Potential).		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.593C>G	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	5.783	0.328820	0.10956	.	.	ENSG00000080031	ENST00000376350	T	0.08193	3.12	3.7	-1.1	0.09872	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.136310	0.06928	N	0.810551	T	0.09379	0.0231	L	0.54323	1.7	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.40478	-0.9561	10	0.54805	T	0.06	.	6.5216	0.22279	0.4526:0.0:0.5474:0.0	.	198	Q9HD43	PTPRH_HUMAN	C	198	ENSP00000365528:S198C	ENSP00000365528:S198C	S	-	2	0	PTPRH	60408532	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.054000	0.11826	-0.186000	0.10533	-0.362000	0.07510	TCC		0.507	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1				8	159	0	0	0	0.27861	0	8	159		
ZNF470	388566	broad.mit.edu	37	19	57089446	57089446	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr19:57089446C>T	ENST00000330619.8	+	6	2335	c.1649C>T	c.(1648-1650)gCa>gTa	p.A550V	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.A550V	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGTCAGATTGCACACCTTGTT	0.448																																						uc002qnl.3		NaN																	0				ovary(1)|pancreas(1)	2						c.(1648-1650)GCA>GTA		zinc finger protein 470							94.0	83.0	87.0					19																	57089446		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089446C>T	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1649C>T	19.37:g.57089446C>T	ENSP00000333223:p.Ala550Val					ZNF470_uc010etn.2_Intron	p.A550V	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2325	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	550			C2H2-type 12.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1649C>T	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080759	0.55753	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.07688	3.17;3.17	4.37	3.27	0.37495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	L	0.41027	1.25	0.09310	N	1	B	0.32338	0.365	B	0.15052	0.012	T	0.17167	-1.0378	9	0.51188	T	0.08	.	12.3268	0.55015	0.0:0.6933:0.3067:0.0	.	550	Q6ECI4	ZN470_HUMAN	V	550	ENSP00000375590:A550V;ENSP00000333223:A550V	ENSP00000333223:A550V	A	+	2	0	ZNF470	61781258	0.000000	0.05858	0.956000	0.39512	0.958000	0.62258	0.811000	0.27198	2.272000	0.75746	0.650000	0.86243	GCA		0.448	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2		NM_001001668		29	64	0	0	0	0.144211	0	29	64		
GEN1	348654	broad.mit.edu	37	2	17941319	17941319	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:17941319G>A	ENST00000381254.2	+	2	323	c.109G>A	c.(109-111)Gag>Aag	p.E37K	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.E37K	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	37	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGGGTGTGTGAGGCACAGAC	0.433								Homologous recombination																														uc002rct.2		NaN																	0				breast(5)|kidney(1)|central_nervous_system(1)|skin(1)	8						c.(109-111)GAG>AAG	Homologous_recombination	Gen homolog 1, endonuclease							123.0	120.0	121.0					2																	17941319		2203	4300	6503	SO:0001583	missense	348654				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	g.chr2:17941319G>A	AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.109G>A	2.37:g.17941319G>A	ENSP00000370653:p.Glu37Lys					SMC6_uc010exo.2_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.E37K|GEN1_uc002rcu.2_Missense_Mutation_p.E37K	p.E37K	NM_182625	NP_872431	Q17RS7	GEN_HUMAN			2	182	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		37			N-domain.		Q17RS9|Q6ZN37	Missense_Mutation	SNP	ENST00000381254.2	37	c.109G>A	CCDS1691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245800	0.95272	.	.	ENSG00000178295	ENST00000317402;ENST00000381254;ENST00000524465;ENST00000532257	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.37	5.37	0.77165	XPG N-terminal (2);	0.000000	0.64402	D	0.000002	T	0.71056	0.3295	L	0.50333	1.59	0.58432	D	0.999993	D	0.54397	0.966	P	0.62885	0.908	T	0.72134	-0.4382	10	0.72032	D	0.01	-27.6844	19.2974	0.94128	0.0:0.0:1.0:0.0	.	37	Q17RS7	GEN_HUMAN	K	37	ENSP00000318977:E37K;ENSP00000370653:E37K;ENSP00000435143:E37K;ENSP00000433180:E37K	ENSP00000318977:E37K	E	+	1	0	GEN1	17804800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.190000	0.94934	2.802000	0.96397	0.650000	0.86243	GAG		0.433	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2		NM_182625		11	85	0	0	0	0.080935	0	11	85		
PREPL	9581	broad.mit.edu	37	2	44548554	44548554	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:44548554C>G	ENST00000409936.1	-	15	2562	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q	SLC3A1_ENST00000260649.6_3'UTR|PREPL_ENST00000409411.1_Missense_Mutation_p.E620Q|PREPL_ENST00000260648.6_Missense_Mutation_p.E709Q|PREPL_ENST00000409272.1_Missense_Mutation_p.E709Q|PREPL_ENST00000378511.3_Missense_Mutation_p.E647Q|PREPL_ENST00000409957.1_Missense_Mutation_p.E620Q|PREPL_ENST00000541738.1_Missense_Mutation_p.E620Q|PREPL_ENST00000378520.3_Missense_Mutation_p.E643Q|PREPL_ENST00000410081.1_Missense_Mutation_p.E709Q	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	709						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGTCCAAGTTCCTCGTACAGG	0.348																																						uc002ruf.2		NaN																	0				ovary(1)	1						c.(2125-2127)GAA>CAA		prolyl endopeptidase-like isoform C							65.0	68.0	67.0					2																	44548554		2203	4300	6503	SO:0001583	missense	9581				proteolysis	cytosol	serine-type endopeptidase activity	g.chr2:44548554C>G	AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.2125G>C	2.37:g.44548554C>G	ENSP00000386543:p.Glu709Gln					PREPL_uc002rug.2_Missense_Mutation_p.E643Q|PREPL_uc002ruh.2_Missense_Mutation_p.E647Q|PREPL_uc010fax.2_Missense_Mutation_p.E709Q|PREPL_uc002rui.3_Missense_Mutation_p.E620Q|PREPL_uc002ruj.1_Missense_Mutation_p.E620Q|PREPL_uc002ruk.1_Missense_Mutation_p.E709Q	p.E709Q	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN			14	2160	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	709					A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	ENST00000409936.1	37	c.2125G>C	CCDS33190.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574132	0.86542	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511	.	.	.	5.1	5.1	0.69264	.	0.125552	0.52532	D	0.000075	T	0.53514	0.1801	N	0.05510	-0.035	0.54753	D	0.999986	D;P;D	0.67145	0.996;0.694;0.978	D;P;P	0.75484	0.986;0.532;0.857	T	0.62201	-0.6904	9	0.56958	D	0.05	-20.735	15.5812	0.76445	0.0:1.0:0.0:0.0	.	647;643;709	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	Q	620;620;620;709;709;709;709;643;647	.	ENSP00000260648:E709Q	E	-	1	0	PREPL	44402058	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	4.009000	0.57110	2.652000	0.90054	0.655000	0.94253	GAA		0.348	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327900.1		NM_006036		24	12	0	0	0	0.324025	0	24	12		
TMEM127	55654	broad.mit.edu	37	2	96933152	96933152	+	5'Flank	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:96933152C>T	ENST00000258439.3	-	0	0				CIAO1_ENST00000488633.1_Missense_Mutation_p.S78F|CIAO1_ENST00000469320.1_3'UTR|TMEM127_ENST00000432959.1_5'Flank	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TACCTGGCCTCTGCCAGCTTT	0.547																																						uc002svs.2		NaN																	0					0						c.(232-234)TCT>TTT		WD repeat domain 39							110.0	103.0	105.0					2																	96933152		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933152C>T	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933152C>T	Exception_encountered					TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank	p.S78F	NM_004804	NP_004795	O76071	CIAO1_HUMAN			2	438	+			78			WD 2.		D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	c.233C>T	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777415	0.90195	.	.	ENSG00000144021	ENST00000488633	T	0.72725	-0.68	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88440	0.6437	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91760	0.5419	10	0.87932	D	0	-25.1921	15.17	0.72865	0.0:1.0:0.0:0.0	.	78	O76071	CIAO1_HUMAN	F	78	ENSP00000418287:S78F	ENSP00000418287:S78F	S	+	2	0	CIAO1	96296879	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.185000	0.77714	2.432000	0.82394	0.655000	0.94253	TCT		0.547	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3		NM_017849		13	120	0	0	0	0.160694	0	13	120		
SCN1A	6323	broad.mit.edu	37	2	166908238	166908238	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:166908238G>C	ENST00000303395.4	-	6	954	c.955C>G	c.(955-957)Caa>Gaa	p.Q319E	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.Q319E|SCN1A_ENST00000375405.3_Missense_Mutation_p.Q319E|SCN1A_ENST00000409050.1_Missense_Mutation_p.Q319E|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	319					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)	CTTGAATCTTGAATATATGAC	0.303																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(955-957)CAA>GAA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						40.0	41.0	41.0					2																	166908238		2201	4295	6496	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908238G>C	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.955C>G	2.37:g.166908238G>C	ENSP00000303540:p.Gln319Glu					SCN1A_uc002udo.3_Missense_Mutation_p.Q188E|SCN1A_uc010fpk.2_Missense_Mutation_p.Q188E	p.Q319E	NM_006920	NP_008851	P35498	SCN1A_HUMAN			6	973	-			319			I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.955C>G	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	4.271	0.049391	0.08243	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95724	-3.79;-3.79;-3.75;-3.73	5.41	4.48	0.54585	Ion transport (1);	0.416661	0.23265	N	0.050097	T	0.77685	0.4167	N	0.00263	-1.745	0.25452	N	0.98799	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.68569	-0.5374	10	0.02654	T	1	.	9.3231	0.37977	0.0:0.1893:0.5865:0.2241	.	319;319;319	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	E	319	ENSP00000407030:Q319E;ENSP00000303540:Q319E;ENSP00000364554:Q319E;ENSP00000386312:Q319E	ENSP00000303540:Q319E	Q	-	1	0	SCN1A	166616484	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.374000	0.34283	2.688000	0.91661	0.655000	0.94253	CAA		0.303	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		5	21	0	0	0	0.217242	0	5	21		
AGPS	8540	broad.mit.edu	37	2	178362475	178362475	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:178362475A>G	ENST00000264167.4	+	13	1490	c.1344A>G	c.(1342-1344)aaA>aaG	p.K448K	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	448					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ACGGATTAAAAAAGTTTTATA	0.279																																						uc002ull.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1342-1344)AAA>AAG		alkyldihydroxyacetone phosphate synthase							29.0	31.0	30.0					2																	178362475		2186	4275	6461	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178362475A>G	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1344A>G	2.37:g.178362475A>G						AGPS_uc010zfb.1_Silent_p.K358K	p.K448K	NM_003659	NP_003650	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		13	1391	+			448					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1344A>G	CCDS2275.1																																																																																				0.279	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2				8	5	0	0	0	0.058154	0	8	5		
NCKAP1	10787	broad.mit.edu	37	2	183868005	183868005	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:183868005G>C	ENST00000361354.4	-	3	640	c.268C>G	c.(268-270)Ctg>Gtg	p.L90V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.L96V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	90					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TATAATGCCAGATTTTTCAGA	0.254																																						uc002upc.2		NaN																	0				ovary(2)	2						c.(268-270)CTG>GTG		NCK-associated protein 1 isoform 1							55.0	55.0	55.0					2																	183868005		2200	4284	6484	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183868005G>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.268C>G	2.37:g.183868005G>C	ENSP00000355348:p.Leu90Val					NCKAP1_uc002upb.2_Missense_Mutation_p.L96V	p.L90V	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		3	670	-			90					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.268C>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861477	0.51482	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.56776	0.44;0.44	5.71	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.87547	2.89	0.80722	D	1	P;P	0.45212	0.74;0.853	P;B	0.47864	0.559;0.423	T	0.73199	-0.4058	10	0.72032	D	0.01	-6.6504	12.8363	0.57775	0.2049:0.0:0.7951:0.0	.	90;96	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	90;96	ENSP00000355348:L90V;ENSP00000354251:L96V	ENSP00000354251:L96V	L	-	1	2	NCKAP1	183576250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.242000	0.43106	1.408000	0.46895	0.585000	0.79938	CTG		0.254	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2		NM_205842		7	31	0	0	0	0.27861	0	7	31		
STK36	27148	broad.mit.edu	37	2	219549924	219549924	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:219549924G>C	ENST00000295709.3	+	11	1632	c.1353G>C	c.(1351-1353)caG>caC	p.Q451H	STK36_ENST00000440309.1_Missense_Mutation_p.Q451H|STK36_ENST00000392105.3_Missense_Mutation_p.Q451H|STK36_ENST00000392106.2_Missense_Mutation_p.Q451H	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AGCGCATCCAGAGTCAGCTGC	0.507																																						uc002viu.2		NaN																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(1351-1353)CAG>CAC		serine/threonine kinase 36							100.0	85.0	90.0					2																	219549924		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219549924G>C	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1353G>C	2.37:g.219549924G>C	ENSP00000295709:p.Gln451His					STK36_uc002viv.2_Missense_Mutation_p.Q451H	p.Q451H	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	11	1619	+		Renal(207;0.0915)	451						Missense_Mutation	SNP	ENST00000295709.3	37	c.1353G>C	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494958	0.64186	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.71934	-0.6;-0.6;-0.61;-0.6	4.97	4.97	0.65823	.	0.000000	0.41097	D	0.000941	T	0.71022	0.3291	L	0.27053	0.805	0.38016	D	0.934684	D;D	0.71674	0.998;0.997	D;P	0.67725	0.953;0.898	T	0.72750	-0.4199	10	0.42905	T	0.14	-14.1316	9.2056	0.37287	0.1632:0.0:0.8368:0.0	.	451;451	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	H	451	ENSP00000295709:Q451H;ENSP00000375955:Q451H;ENSP00000375954:Q451H;ENSP00000394095:Q451H	ENSP00000295709:Q451H	Q	+	3	2	STK36	219258168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.972000	0.40540	2.584000	0.87258	0.650000	0.86243	CAG		0.507	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2				17	42	0	0	0	0.204396	0	17	42		
CHRNG	1146	broad.mit.edu	37	2	233409214	233409214	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr2:233409214C>G	ENST00000389494.3	+	10	1194	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	CHRNG_ENST00000389492.3_Silent_p.L339L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	391					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)	p.L391L(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	AGGTGGCCCTCTGCCTGCCTC	0.662																																						uc002vsx.1		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)CTC>CTG		cholinergic receptor, nicotinic, gamma							65.0	66.0	66.0					2																	233409214		2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233409214C>G	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1173C>G	2.37:g.233409214C>G						CHRNG_uc010fye.1_Silent_p.L339L	p.L391L	NM_005199	NP_005190	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	10	1194	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	391			Cytoplasmic (Potential).		B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.1173C>G	CCDS33400.1																																																																																				0.662	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1		NM_005199		55	23	0	0	0	0.323286	0	55	23		
SERINC3	10955	broad.mit.edu	37	20	43139962	43139962	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr20:43139962G>C	ENST00000342374.4	-	4	600	c.443C>G	c.(442-444)tCt>tGt	p.S148C	SERINC3_ENST00000255175.1_Missense_Mutation_p.S148C|SERINC3_ENST00000468234.1_5'Flank|SERINC3_ENST00000541235.1_Missense_Mutation_p.S93C	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	148					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GATGTAGAAAGAGCCAACCAT	0.353																																						uc002xme.2		NaN																	0				skin(3)	3						c.(442-444)TCT>TGT		tumor differentially expressed protein 1							51.0	51.0	51.0					20																	43139962		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43139962G>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.443C>G	20.37:g.43139962G>C	ENSP00000340243:p.Ser148Cys					SERINC3_uc002xmf.1_Missense_Mutation_p.S148C|SERINC3_uc010ggs.1_Missense_Mutation_p.S141C|SERINC3_uc010zwp.1_Missense_Mutation_p.S93C	p.S148C	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		4	577	-		Myeloproliferative disorder(115;0.0122)	148			Helical; (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.443C>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458416	0.84317	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.15139	2.45;2.45;2.45	5.97	5.97	0.96955	.	0.050460	0.85682	D	0.000000	T	0.44787	0.1310	M	0.70275	2.135	0.51012	D	0.999909	B;D	0.71674	0.221;0.998	B;D	0.72075	0.209;0.976	T	0.14671	-1.0464	10	0.56958	D	0.05	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	148;148	Q53GK8;Q13530	.;SERC3_HUMAN	C	148;148;115;93	ENSP00000255175:S148C;ENSP00000340243:S148C;ENSP00000440966:S93C	ENSP00000255175:S148C	S	-	2	0	SERINC3	42573376	1.000000	0.71417	0.997000	0.53966	0.753000	0.42808	9.724000	0.98775	2.833000	0.97629	0.585000	0.79938	TCT		0.353	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		20	22	0	0	0	0.279207	0	20	22		
ZNF334	55713	broad.mit.edu	37	20	45132865	45132865	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr20:45132865G>C	ENST00000347606.4	-	4	411	c.229C>G	c.(229-231)Cag>Gag	p.Q77E	ZNF334_ENST00000593880.1_Missense_Mutation_p.Q100E|ZNF334_ENST00000457685.2_Missense_Mutation_p.Q39E	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGTAGTTCTGATTTGAGAAT	0.408																																						uc002xsc.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(229-231)CAG>GAG		zinc finger protein 334 isoform a							120.0	90.0	100.0					20																	45132865		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45132865G>C	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.229C>G	20.37:g.45132865G>C	ENSP00000255129:p.Gln77Glu					ZNF334_uc002xsa.2_Missense_Mutation_p.Q100E|ZNF334_uc002xsb.2_Missense_Mutation_p.Q39E|ZNF334_uc002xsd.2_Missense_Mutation_p.Q39E|ZNF334_uc010ghl.2_Missense_Mutation_p.Q76E	p.Q77E	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN			4	413	-		Myeloproliferative disorder(115;0.0122)	77			KRAB.		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.229C>G	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233189	0.39498	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.08546	3.35;3.08	2.98	-0.224	0.13115	Krueppel-associated box (1);	.	.	.	.	T	0.06050	0.0157	L	0.45285	1.41	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.43653	-0.9378	9	0.20519	T	0.43	.	3.0084	0.06035	0.2853:0.2379:0.4768:0.0	.	39;77;100	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	E	39;77	ENSP00000402582:Q39E;ENSP00000255129:Q77E	ENSP00000255129:Q77E	Q	-	1	0	ZNF334	44566272	0.000000	0.05858	0.001000	0.08648	0.840000	0.47671	-0.029000	0.12329	0.126000	0.18424	0.467000	0.42956	CAG		0.408	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1				16	25	0	0	0	0.204396	0	16	25		
TRPM2	7226	broad.mit.edu	37	21	45861676	45861676	+	Silent	SNP	C	C	T	rs147981149	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr21:45861676C>T	ENST00000397928.1	+	32	4933	c.4488C>T	c.(4486-4488)gcC>gcT	p.A1496A	TRPM2_ENST00000300482.5_Silent_p.A1496A|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.A1546A|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000300481.9_Silent_p.A1442A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1496	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGAAGGCAGCCGCTGAGTTCG	0.642													C|||	3	0.000599042	0.0008	0.0	5008	,	,		18573	0.002		0.0	False		,,,				2504	0.0					uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(4486-4488)GCC>GCT		transient receptor potential cation channel,		C		1,4405	2.1+/-5.4	0,1,2202	91.0	63.0	73.0		4488	0.4	0.1	21	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous	TRPM2	NM_003307.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1496/1504	45861676	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45861676C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4488C>T	21.37:g.45861676C>T						TRPM2_uc002zeu.1_Silent_p.A1496A|TRPM2_uc002zew.1_Silent_p.A1496A|TRPM2_uc010gpt.1_Silent_p.A1546A|TRPM2_uc002zex.1_Silent_p.A1282A|TRPM2_uc002zey.1_Silent_p.A975A|TRPM2_uc011aff.1_Silent_p.A177A	p.A1496A	NM_003307	NP_003298	O94759	TRPM2_HUMAN			33	4701	+			1496			Nudix hydrolase.|Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.4488C>T	CCDS13710.1																																																																																				0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307		21	20	0	0	0	0.26419	0	21	20		
SPECC1L	23384	broad.mit.edu	37	22	24720319	24720319	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:24720319C>G	ENST00000314328.9	+	6	2355	c.2070C>G	c.(2068-2070)atC>atG	p.I690M	SPECC1L_ENST00000541492.1_Missense_Mutation_p.I690M|SPECC1L_ENST00000437398.1_Missense_Mutation_p.I690M|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.I690M	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	690					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						AAGAAACCATCTTTGAACTTG	0.328																																						uc002zzw.2		NaN																	0					0						c.(2068-2070)ATC>ATG		cytospin A							115.0	103.0	107.0					22																	24720319		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24720319C>G	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.2070C>G	22.37:g.24720319C>G	ENSP00000325785:p.Ile690Met					CYTSA_uc002zzv.3_Missense_Mutation_p.I690M|CYTSA_uc011ajq.1_Missense_Mutation_p.I690M	p.I690M	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			6	2377	+			690			Potential.		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.2070C>G	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646252	0.67358	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.70045	-0.45;1.98;-0.45;2.51	5.56	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.78400	0.4277	M	0.73962	2.25	0.54753	D	0.999987	D;D	0.89917	1.0;0.995	D;D	0.78314	0.991;0.986	T	0.78819	-0.2054	10	0.52906	T	0.07	-26.1144	8.741	0.34558	0.1496:0.7745:0.0:0.0758	.	690;690	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	M	718;690;690;690;690	ENSP00000393363:I690M;ENSP00000405671:I690M;ENSP00000325785:I690M;ENSP00000439633:I690M	ENSP00000325785:I690M	I	+	3	3	SPECC1L	23050319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.246000	0.43142	1.482000	0.48325	0.591000	0.81541	ATC		0.328	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2		NM_015330		18	28	0	0	0	0.204396	0	18	28		
NOL12	79159	broad.mit.edu	37	22	38084997	38084997	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:38084997G>A	ENST00000359114.4	+	4	449	c.379G>A	c.(379-381)Gag>Aag	p.E127K	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	127						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GACCCCACCTGAGGTGGGTCC	0.657																																						uc003atp.2		NaN																	0					0						c.(379-381)GAG>AAG		nucleolar protein 12							66.0	72.0	70.0					22																	38084997		2203	4300	6503	SO:0001583	missense	79159					nucleolus	rRNA binding	g.chr22:38084997G>A	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.379G>A	22.37:g.38084997G>A	ENSP00000352021:p.Glu127Lys					NOL12_uc011anm.1_Missense_Mutation_p.E127K|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR	p.E127K	NM_024313	NP_077289	Q9UGY1	NOL12_HUMAN			4	435	+	Melanoma(58;0.0574)		127						Missense_Mutation	SNP	ENST00000359114.4	37	c.379G>A	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822733	0.32237	.	.	ENSG00000256872	ENST00000359114	D	0.85556	-2.0	5.66	5.66	0.87406	.	0.371630	0.33253	N	0.005106	T	0.75882	0.3910	N	0.22421	0.69	0.43885	D	0.996501	P	0.39717	0.684	B	0.41036	0.346	T	0.72500	-0.4274	10	0.09843	T	0.71	-5.4185	13.2124	0.59832	0.0756:0.0:0.9244:0.0	.	127	Q9UGY1	NOL12_HUMAN	K	127	ENSP00000352021:E127K	ENSP00000352021:E127K	E	+	1	0	Z83844.2	36414943	0.998000	0.40836	0.995000	0.50966	0.350000	0.29205	2.662000	0.46766	2.675000	0.91044	0.655000	0.94253	GAG		0.657	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1		NM_024313		27	72	0	0	0	0.144211	0	27	72		
ATF4	468	broad.mit.edu	37	22	39918553	39918553	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:39918553G>A	ENST00000337304.2	+	2	1884	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L	ATF4_ENST00000396680.1_Silent_p.L334L|ATF4_ENST00000404241.2_Silent_p.L334L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	334	Interaction with GABBR1. {ECO:0000250}.|Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TCCAGTACCTGAAAGATTTGA	0.512																																						uc003axz.2		NaN																	0					0						c.(1000-1002)CTG>CTA		activating transcription factor 4							18.0	21.0	20.0					22																	39918553		2193	4283	6476	SO:0001819	synonymous_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39918553G>A	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.1002G>A	22.37:g.39918553G>A						ATF4_uc011aol.1_Silent_p.L246L|ATF4_uc003aya.2_Silent_p.L334L	p.L334L	NM_182810	NP_877962	P18848	ATF4_HUMAN			3	1282	+	Melanoma(58;0.04)		334			Leucine-zipper.|Interaction with GABBR1 (By similarity).|		Q9UH31	Silent	SNP	ENST00000337304.2	37	c.1002G>A	CCDS13996.1																																																																																				0.512	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1		NM_001675		3	17	0	0	0	0.115264	0	3	17		
MPPED1	758	broad.mit.edu	37	22	43831096	43831096	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:43831096G>T	ENST00000417669.2	+	3	811	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000414469.2_Missense_Mutation_p.G17W|MPPED1_ENST00000443721.1_Missense_Mutation_p.G123W|MPPED1_ENST00000542779.1_Missense_Mutation_p.G123W|MPPED1_ENST00000538182.1_Missense_Mutation_p.G156W			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	123							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CACTGAGCTGGGGCTCCCGAG	0.667																																						uc011apv.1		NaN																	0					0						c.(367-369)GGG>TGG		metallophosphoesterase domain containing 1							57.0	67.0	64.0					22																	43831096		2053	4178	6231	SO:0001583	missense	758						hydrolase activity	g.chr22:43831096G>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.367G>T	22.37:g.43831096G>T	ENSP00000388137:p.Gly123Trp					MPPED1_uc011apw.1_Missense_Mutation_p.G17W|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.G123W|MPPED1_uc011apz.1_Missense_Mutation_p.G156W	p.G123W	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			3	590	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	123					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.367G>T	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040527	0.93630	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000542779;ENST00000538182	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	4.81	4.81	0.61882	Metallophosphoesterase domain (1);	0.116685	0.64402	D	0.000019	D	0.96043	0.8711	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97225	0.9880	10	0.87932	D	0	-43.2128	18.2639	0.90046	0.0:0.0:1.0:0.0	.	156;123	B7Z2S9;O15442	.;MPPD1_HUMAN	W	123;123;101;17;123;156	ENSP00000388137:G123W;ENSP00000400686:G123W;ENSP00000388245:G17W;ENSP00000444532:G123W;ENSP00000438335:G156W	ENSP00000388245:G17W	G	+	1	0	MPPED1	42161040	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.210000	0.95106	2.374000	0.81015	0.561000	0.74099	GGG		0.667	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2		NM_001044370		17	35	1	0	3.52763e-06	0.160694	3.68559e-06	17	35		
CAPN7	23473	broad.mit.edu	37	3	15283750	15283750	+	Silent	SNP	T	T	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:15283750T>G	ENST00000253693.2	+	16	2107	c.1854T>G	c.(1852-1854)gtT>gtG	p.V618V		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	618	Domain III.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GGAAAAAAGTTTATTACCCAG	0.279																																						uc003bzn.2		NaN																	0				ovary(1)	1						c.(1852-1854)GTT>GTG		calpain 7							66.0	65.0	65.0					3																	15283750		2203	4293	6496	SO:0001819	synonymous_variant	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15283750T>G	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1854T>G	3.37:g.15283750T>G							p.V618V	NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN			16	2124	+			618			Domain III.			Silent	SNP	ENST00000253693.2	37	c.1854T>G	CCDS2624.1																																																																																				0.279	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2		NM_014296		8	48	0	0	0	0.27861	0	8	48		
ZNF501	115560	broad.mit.edu	37	3	44776196	44776196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:44776196C>T	ENST00000396048.2	+	3	720	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		AATTCTTGTTCAGCATCTGAG	0.368																																						uc003cnu.1		NaN																	0					0						c.(283-285)CAG>TAG		zinc finger protein 501							78.0	90.0	86.0					3																	44776196		2197	4300	6497	SO:0001587	stop_gained	115560				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44776196C>T	BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.283C>T	3.37:g.44776196C>T	ENSP00000379363:p.Gln95*					ZNF501_uc003cnv.1_Nonsense_Mutation_p.Q95*	p.Q95*	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)	3	684	+			95			C2H2-type 3.		B4DLY7|Q96NU9	Nonsense_Mutation	SNP	ENST00000396048.2	37	c.283C>T	CCDS2720.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871306	0.91587	.	.	ENSG00000186446	ENST00000396048;ENST00000332489	.	.	.	3.07	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	5.6961	0.17857	0.1937:0.4539:0.3525:0.0	.	.	.	.	X	95	.	ENSP00000330388:Q95X	Q	+	1	0	ZNF501	44751200	0.000000	0.05858	0.985000	0.45067	0.972000	0.66771	-1.403000	0.02497	1.717000	0.51406	0.563000	0.77884	CAG		0.368	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256654.4		NM_145044		22	92	0	0	0	0.324025	0	22	92		
MAGI1	9223	broad.mit.edu	37	3	65367599	65367599	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:65367599T>C	ENST00000497477.2	-	16	2653	c.2654A>G	c.(2653-2655)aAg>aGg	p.K885R	MAGI1_ENST00000402939.2_Missense_Mutation_p.K885R|MAGI1_ENST00000330909.8_Missense_Mutation_p.K913R|MAGI1_ENST00000483466.1_Missense_Mutation_p.K913R			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	913	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGGCCTTGCTTGGCAGCTTG	0.483																																						uc003dmn.2		NaN																	0				lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(2653-2655)AAG>AGG		membrane associated guanylate kinase, WW and PDZ							139.0	117.0	124.0					3																	65367599		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65367599T>C	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2654A>G	3.37:g.65367599T>C	ENSP00000424369:p.Lys885Arg					MAGI1_uc003dmm.2_Missense_Mutation_p.K913R|MAGI1_uc003dmo.2_Missense_Mutation_p.K913R|MAGI1_uc003dmp.2_Missense_Mutation_p.K885R|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.K196R	p.K885R	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	16	3180	-		Lung NSC(201;0.0016)	913					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2654A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.637|9.637	1.138047|1.138047	0.21123|0.21123	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|.	0.28069|.	1.63;1.63;1.63;1.63;1.63;1.63|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.140399|.	0.64402|.	D|.	0.000007|.	T|T	0.29256|0.29256	0.0728|0.0728	N|N	0.01656|0.01656	-0.775|-0.775	0.80722|0.80722	D|D	1|1	B;B;D;P;B|.	0.76494|.	0.03;0.022;0.999;0.51;0.052|.	B;B;D;B;B|.	0.85130|.	0.086;0.033;0.997;0.279;0.111|.	T|T	0.32402|0.32402	-0.9908|-0.9908	10|5	0.05721|.	T|.	0.95|.	-30.1866|-30.1866	15.4797|15.4797	0.75514|0.75514	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	913;885;913;885;913|.	A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.;.|.	R|G	885;913;809;788;913;885;671|794	ENSP00000385450:K885R;ENSP00000331157:K913R;ENSP00000418177:K788R;ENSP00000420323:K913R;ENSP00000424369:K885R;ENSP00000420796:K671R|.	ENSP00000331157:K913R|.	K|S	-|-	2|1	0|0	MAGI1|MAGI1	65342639|65342639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.275000|6.275000	0.72594|0.72594	2.049000|2.049000	0.60858|0.60858	0.533000|0.533000	0.62120|0.62120	AAG|AGC		0.483	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2		NM_004742		27	33	0	0	0	0.116897	0	27	33		
PHLDB2	90102	broad.mit.edu	37	3	111685499	111685499	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:111685499G>C	ENST00000431670.2	+	14	3528	c.3117G>C	c.(3115-3117)gaG>gaC	p.E1039D	PHLDB2_ENST00000393925.3_Missense_Mutation_p.E1039D|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E1023D|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E530D|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E996D|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E996D	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1039						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAAATGGAGAGACTTTTGA	0.438																																						uc010hqa.2		NaN																	0				ovary(4)|skin(2)	6						c.(3115-3117)GAG>GAC		pleckstrin homology-like domain, family B,							84.0	94.0	91.0					3																	111685499		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111685499G>C		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3117G>C	3.37:g.111685499G>C	ENSP00000405405:p.Glu1039Asp					PHLDB2_uc003dyc.2_Missense_Mutation_p.E1023D|PHLDB2_uc003dyd.2_Missense_Mutation_p.E996D|PHLDB2_uc003dyg.2_Missense_Mutation_p.E1039D|PHLDB2_uc003dyh.2_Missense_Mutation_p.E996D|PHLDB2_uc003dyi.2_Missense_Mutation_p.E530D|PHLDB2_uc003dyj.2_Missense_Mutation_p.E94D	p.E1039D	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			14	3528	+			1039			Potential.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3117G>C	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132847	0.77662	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.51	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.65790	0.2725	M	0.78456	2.415	0.45979	D	0.998797	D;D;D;D;D	0.89917	0.997;0.999;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.978;0.999;0.999;0.998;0.998	T	0.68678	-0.5345	10	0.87932	D	0	.	8.2011	0.31426	0.2396:0.0:0.7604:0.0	.	158;530;1039;996;1023	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	D	1023;1039;996;996;1039;996;530	ENSP00000377500:E1023D;ENSP00000405405:E1039D;ENSP00000405292:E996D;ENSP00000418296:E996D;ENSP00000377502:E1039D;ENSP00000418319:E996D;ENSP00000420303:E530D	ENSP00000377500:E1023D	E	+	3	2	PHLDB2	113168189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.183000	0.42565	1.442000	0.47568	0.591000	0.81541	GAG		0.438	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1		NM_145753		47	40	0	0	0	0.323286	0	47	40		
C3orf17	25871	broad.mit.edu	37	3	112724558	112724558	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:112724558C>G	ENST00000314400.5	-	9	1720	c.1529G>C	c.(1528-1530)gGa>gCa	p.G510A	C3orf17_ENST00000383675.2_Missense_Mutation_p.G440A|C3orf17_ENST00000393857.2_Missense_Mutation_p.G374A|C3orf17_ENST00000472762.1_5'Flank	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	510					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CATTGAAACTCCACTATTCAA	0.413																																						uc003dzr.2		NaN																	0					0						c.(1528-1530)GGA>GCA		hypothetical protein LOC25871							154.0	145.0	148.0					3																	112724558		2203	4300	6503	SO:0001583	missense	25871					integral to membrane		g.chr3:112724558C>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1529G>C	3.37:g.112724558C>G	ENSP00000320251:p.Gly510Ala					GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.G135A|C3orf17_uc011bhz.1_Missense_Mutation_p.G135A|C3orf17_uc010hqh.2_Missense_Mutation_p.G135A|C3orf17_uc003dzt.2_Missense_Mutation_p.G413A|C3orf17_uc003dzs.2_Missense_Mutation_p.G374A|C3orf17_uc010hqg.2_Missense_Mutation_p.G335A|C3orf17_uc011bia.1_Missense_Mutation_p.G307A|C3orf17_uc003dzu.2_Missense_Mutation_p.G439A|C3orf17_uc011bib.1_Missense_Mutation_p.G399A|C3orf17_uc011bic.1_Missense_Mutation_p.G343A|C3orf17_uc011bid.1_RNA	p.G510A	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			9	1590	-			510					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	ENST00000314400.5	37	c.1529G>C	CCDS33824.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114831	0.20795	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000412848;ENST00000393857	T;T;T	0.31247	1.5;1.5;1.5	5.31	1.35	0.21983	.	0.639794	0.15023	N	0.284881	T	0.22205	0.0535	L	0.36672	1.1	0.09310	N	1	B;P;B;B	0.37500	0.026;0.597;0.417;0.417	B;B;B;B	0.40410	0.025;0.328;0.116;0.085	T	0.14420	-1.0473	10	0.24483	T	0.36	-0.0323	5.5892	0.17291	0.0:0.5203:0.3073:0.1724	.	399;307;440;510	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	A	510;440;157;374	ENSP00000320251:G510A;ENSP00000373173:G440A;ENSP00000377438:G374A	ENSP00000320251:G510A	G	-	2	0	C3orf17	114207248	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.189000	0.17037	-0.030000	0.13804	0.655000	0.94253	GGA		0.413	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3		NM_015412		19	75	0	0	0	0.26419	0	19	75		
ATP6V1A	523	broad.mit.edu	37	3	113499971	113499971	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:113499971G>C	ENST00000273398.3	+	3	265	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.E20Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	53					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ATTGGTTGGAGAGATTATTCG	0.433																																						uc003eao.2		NaN																	0				ovary(2)|skin(1)	3						c.(157-159)GAG>CAG		ATPase, H+ transporting, lysosomal V1 subunit A							181.0	167.0	171.0					3																	113499971		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113499971G>C	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.157G>C	3.37:g.113499971G>C	ENSP00000273398:p.Glu53Gln					ATP6V1A_uc011bik.1_Missense_Mutation_p.E20Q	p.E53Q	NM_001690	NP_001681	P38606	VATA_HUMAN			3	223	+			53					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.157G>C	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234257	0.95207	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.62	5.62	0.85841	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95032	0.8170	10	0.87932	D	0	-20.0751	19.653	0.95825	0.0:0.0:1.0:0.0	.	53	P38606	VATA_HUMAN	Q	53;20;20;53	ENSP00000273398:E53Q;ENSP00000439874:E20Q;ENSP00000417545:E20Q;ENSP00000419294:E53Q	ENSP00000273398:E53Q	E	+	1	0	ATP6V1A	114982661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.147000	0.94646	2.634000	0.89283	0.591000	0.81541	GAG		0.433	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1		NM_001690		62	60	0	0	0	0.323286	0	62	60		
PLA1A	51365	broad.mit.edu	37	3	119327641	119327641	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:119327641G>C	ENST00000273371.4	+	3	372	c.300G>C	c.(298-300)tgG>tgC	p.W100C	PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000495992.1_Missense_Mutation_p.W100C|PLA1A_ENST00000494440.1_Missense_Mutation_p.W84C	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	100					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCTTCCTGGATTGACACAT	0.423																																						uc003ecu.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(298-300)TGG>TGC		phospholipase A1 member A precursor							157.0	160.0	159.0					3																	119327641		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119327641G>C	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.300G>C	3.37:g.119327641G>C	ENSP00000273371:p.Trp100Cys					PLA1A_uc003ecv.2_Missense_Mutation_p.W100C|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR	p.W100C	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			3	339	+			100					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.300G>C	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003376	0.54254	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.91740	-2.85;-2.9;-2.85	5.17	5.17	0.71159	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97155	0.9834	10	0.87932	D	0	-10.2456	16.4679	0.84090	0.0:0.0:1.0:0.0	.	100;100	Q53H76-3;Q53H76	.;PLA1A_HUMAN	C	100;100;84	ENSP00000273371:W100C;ENSP00000417326:W100C;ENSP00000418793:W84C	ENSP00000273371:W100C	W	+	3	0	PLA1A	120810331	1.000000	0.71417	0.995000	0.50966	0.339000	0.28857	7.956000	0.87863	2.399000	0.81585	0.462000	0.41574	TGG		0.423	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2				34	113	0	0	0	0.279185	0	34	113		
CPA3	1359	broad.mit.edu	37	3	148601417	148601417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:148601417G>A	ENST00000296046.3	+	9	848	c.796G>A	c.(796-798)Gac>Aac	p.D266N	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	266					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAACACCAATGACCCATGTGC	0.458																																						uc003ewm.2		NaN																	0				breast(1)|skin(1)	2						c.(796-798)GAC>AAC		carboxypeptidase A3 precursor							70.0	68.0	68.0					3																	148601417		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148601417G>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.796G>A	3.37:g.148601417G>A	ENSP00000296046:p.Asp266Asn						p.D266N	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		9	848	+			266					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.796G>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	0.437	-0.900251	0.02472	.	.	ENSG00000163751	ENST00000296046	T	0.28454	1.61	4.77	-2.87	0.05700	Peptidase M14, carboxypeptidase A (2);	0.371270	0.32081	N	0.006617	T	0.06096	0.0158	N	0.00569	-1.365	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38045	-0.9679	10	0.02654	T	1	.	10.6884	0.45856	0.6091:0.0:0.3909:0.0	.	266	P15088	CBPA3_HUMAN	N	266	ENSP00000296046:D266N	ENSP00000296046:D266N	D	+	1	0	CPA3	150084107	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.713000	0.05007	-0.569000	0.06030	-0.691000	0.03719	GAC		0.458	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1		NM_001870		4	69	0	0	0	0.150653	0	4	69		
LRRC31	79782	broad.mit.edu	37	3	169558008	169558008	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:169558008C>A	ENST00000316428.5	-	9	1478	c.1421G>T	c.(1420-1422)tGc>tTc	p.C474F	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.C418F	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	474										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACGTTTTGGCAGAACATGGT	0.468																																						uc003fgc.1		NaN																	0				ovary(2)|skin(1)	3						c.(1420-1422)TGC>TTC		leucine rich repeat containing 31							130.0	121.0	124.0					3																	169558008		2001	4168	6169	SO:0001583	missense	79782							g.chr3:169558008C>A	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1421G>T	3.37:g.169558008C>A	ENSP00000325978:p.Cys474Phe					LRRC31_uc010hwp.1_Missense_Mutation_p.C418F	p.C474F	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		9	1498	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		474			LRR 9.		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.1421G>T	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	C	6.308	0.425011	0.11987	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.52295	0.67;0.67	4.24	3.36	0.38483	.	0.278644	0.39544	N	0.001337	T	0.27313	0.0670	N	0.17082	0.46	0.80722	D	1	B;B	0.28783	0.222;0.028	B;B	0.23419	0.046;0.014	T	0.06427	-1.0827	10	0.39692	T	0.17	-8.3686	7.3278	0.26566	0.1664:0.7469:0.0:0.0868	.	418;474	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	F	474;418	ENSP00000325978:C474F;ENSP00000264676:C418F	ENSP00000264676:C418F	C	-	2	0	LRRC31	171040702	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	1.074000	0.30703	0.905000	0.36596	0.555000	0.69702	TGC		0.468	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1		NM_024727		12	73	1	0	4.3838e-07	0.105934	4.62612e-07	12	73		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; 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; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(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.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	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.chr3:178936091G>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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	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	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (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; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	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	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				10	42	0	0	0	0.069234	0	10	42		
USP13	8975	broad.mit.edu	37	3	179458119	179458119	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:179458119G>A	ENST00000263966.3	+	11	1810	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.D382N	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	447	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGGCAGCAAGATGCCCAGGA	0.507																																						uc003fkh.2		NaN																	0				ovary(1)	1						c.(1339-1341)GAT>AAT		ubiquitin thiolesterase 13							90.0	84.0	86.0					3																	179458119		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179458119G>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1339G>A	3.37:g.179458119G>A	ENSP00000263966:p.Asp447Asn					USP13_uc003fkf.2_Missense_Mutation_p.D447N	p.D447N	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		11	1420	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		447					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1339G>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763424	0.89932	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	D;D;D	0.94897	-3.55;-3.55;-3.55	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.98356	0.9454	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	-22.5714	19.7156	0.96119	0.0:0.0:1.0:0.0	.	447;447	Q92995;A8K2S3	UBP13_HUMAN;.	N	447;382;93	ENSP00000263966:D447N;ENSP00000417146:D382N;ENSP00000420057:D93N	ENSP00000263966:D447N	D	+	1	0	USP13	180940813	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	9.776000	0.99001	2.667000	0.90743	0.655000	0.94253	GAT		0.507	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1				21	80	0	0	0	0.249174	0	21	80		
DNAJB11	51726	broad.mit.edu	37	3	186289895	186289895	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:186289895A>G	ENST00000439351.1	+	3	1009	c.80A>G	c.(79-81)tAt>tGt	p.Y27C	DNAJB11_ENST00000265028.3_Missense_Mutation_p.Y27C|TBCCD1_ENST00000424280.1_5'Flank|TBCCD1_ENST00000446782.1_5'Flank			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	27	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				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)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CGAGATTTCTATAAGATCTTG	0.393																																						uc003fqi.2		NaN																	0				ovary(1)|lung(1)	2						c.(79-81)TAT>TGT		DnaJ (Hsp40) homolog, subfamily B, member 11							64.0	67.0	66.0					3																	186289895		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186289895A>G	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.80A>G	3.37:g.186289895A>G	ENSP00000414398:p.Tyr27Cys					TBCCD1_uc011bry.1_5'Flank|TBCCD1_uc003fqh.2_5'Flank	p.Y27C	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	2	300	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		27			J.		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.80A>G	CCDS3277.1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.907525	0.72868	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	D;D	0.86164	-2.08;-2.08	5.4	5.4	0.78164	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.95239	0.8456	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96301	0.9221	10	0.87932	D	0	-14.3641	13.4297	0.61049	1.0:0.0:0.0:0.0	.	27	Q9UBS4	DJB11_HUMAN	C	27	ENSP00000414398:Y27C;ENSP00000265028:Y27C	ENSP00000265028:Y27C	Y	+	2	0	DNAJB11	187772589	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.530000	0.90606	2.277000	0.76020	0.528000	0.53228	TAT		0.393	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1				29	22	0	0	0	0.214465	0	29	22		
TMEM44	93109	broad.mit.edu	37	3	194309273	194309273	+	Silent	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr3:194309273C>G	ENST00000392432.2	-	11	1618	c.1413G>C	c.(1411-1413)ctG>ctC	p.L471L	TMEM44_ENST00000273580.7_Silent_p.L435L|TMEM44-AS1_ENST00000447982.1_RNA|TMEM44_ENST00000473092.1_Silent_p.L434L|TMEM44-AS1_ENST00000453671.1_RNA|TMEM44_ENST00000476750.1_5'UTR|TMEM44_ENST00000347147.4_Silent_p.L424L|TMEM44-AS1_ENST00000419571.1_RNA|TMEM44_ENST00000381975.3_3'UTR	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	471						integral component of membrane (GO:0016021)		p.L435L(1)		breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CATCATCACTCAGGTGTGCTG	0.532																																						uc010hzn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1411-1413)CTG>CTC		transmembrane protein 44 isoform b							146.0	135.0	139.0					3																	194309273		2203	4300	6503	SO:0001819	synonymous_variant	93109					integral to membrane		g.chr3:194309273C>G	AL833026	CCDS3308.1, CCDS33921.1, CCDS3308.2, CCDS54698.1, CCDS54699.1	3q29	2005-08-16			ENSG00000145014	ENSG00000145014			25120	protein-coding gene	gene with protein product							Standard	NM_138399		Approved	DKFZp686O18124	uc010hzn.3	Q2T9K0	OTTHUMG00000156023	ENST00000392432.2:c.1413G>C	3.37:g.194309273C>G						TMEM44_uc010hzm.2_3'UTR|TMEM44_uc003fuc.2_Silent_p.L156L|TMEM44_uc003fue.2_Silent_p.L424L|TMEM44_uc003fud.2_Silent_p.L435L|TMEM44_uc003fuf.2_3'UTR|TMEM44_uc011bsv.1_Silent_p.L434L|uc003fug.2_5'Flank	p.L471L	NM_001011655	NP_001011655	Q2T9K0	TMM44_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)	11	1582	-	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		471			Cytoplasmic (Potential).		A1L3V7|B7ZLZ5|B7ZLZ6|C9JJ62|E9PGA9|Q0P6F7|Q6ZT47|Q8IXR1|Q8N4G3	Silent	SNP	ENST00000392432.2	37	c.1413G>C	CCDS54699.1																																																																																				0.532	TMEM44-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000342750.1		NM_138399		40	38	0	0	0	0.268233	0	40	38		
EVC2	132884	broad.mit.edu	37	4	5633750	5633750	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:5633750C>G	ENST00000344408.5	-	11	1533	c.1480G>C	c.(1480-1482)Gag>Cag	p.E494Q	EVC2_ENST00000344938.1_Missense_Mutation_p.E494Q|EVC2_ENST00000310917.2_Missense_Mutation_p.E414Q	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	494					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTGCTGCACTCTACAGCAGAC	0.512																																						uc003gij.2		NaN																	0				large_intestine(3)|ovary(2)	5						c.(1480-1482)GAG>CAG		limbin							63.0	60.0	61.0					4																	5633750		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5633750C>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1480G>C	4.37:g.5633750C>G	ENSP00000342144:p.Glu494Gln					EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.E414Q	p.E494Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			11	1534	-			494			Potential.		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.1480G>C	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627275	0.46944	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.80824	-1.42;-1.42;-1.42	4.79	4.79	0.61399	.	0.682043	0.15909	N	0.238662	D	0.88477	0.6447	M	0.64997	1.995	0.42564	D	0.993158	D	0.89917	1.0	D	0.91635	0.999	D	0.88052	0.2788	10	0.48119	T	0.1	-33.6913	17.2176	0.86948	0.0:1.0:0.0:0.0	.	494	Q86UK5	LBN_HUMAN	Q	494;414;494	ENSP00000339954:E494Q;ENSP00000311683:E414Q;ENSP00000342144:E494Q	ENSP00000311683:E414Q	E	-	1	0	EVC2	5684651	0.988000	0.35896	0.831000	0.32960	0.005000	0.04900	2.979000	0.49313	2.353000	0.79882	0.505000	0.49811	GAG		0.512	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2		NM_147127		8	47	0	0	0	0.058154	0	8	47		
TBC1D1	23216	broad.mit.edu	37	4	38091654	38091654	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:38091654C>T	ENST00000261439.4	+	13	2507	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R812C	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	718					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAGGACATCTCGTGAGCTCCG	0.488																																						uc003gtb.2		NaN																	0				ovary(1)	1						c.(2152-2154)CGT>TGT		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							90.0	92.0	92.0					4																	38091654		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38091654C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2152C>T	4.37:g.38091654C>T	ENSP00000261439:p.Arg718Cys					TBC1D1_uc011byd.1_Missense_Mutation_p.R812C|TBC1D1_uc010ifd.2_Missense_Mutation_p.R505C|TBC1D1_uc011byf.1_Missense_Mutation_p.R589C	p.R718C	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			13	2495	+			718					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.2152C>T	CCDS33972.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.12|12.12	1.841402|1.841402	0.32513|0.32513	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803;ENST00000421339|ENST00000510573	T;T;T;T|.	0.45276|.	0.9;0.9;0.9;0.9|.	5.91|5.91	4.17|4.17	0.49024|0.49024	.|.	0.220425|.	0.30293|.	N|.	0.009955|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	D;P;D;D|.	0.58970|.	0.96;0.507;0.984;0.96|.	P;B;P;P|.	0.53490|.	0.717;0.053;0.727;0.717|.	T|T	0.14868|0.14868	-1.0457|-1.0457	10|6	0.59425|0.49607	D|T	0.04|0.09	-11.4763|-11.4763	5.5404|5.5404	0.17036|0.17036	0.2555:0.5542:0.1236:0.0667|0.2555:0.5542:0.1236:0.0667	.|.	718;812;450;718|.	B9A6J6;E9PGH8;Q6PJJ8;Q86TI0|.	.;.;.;TBCD1_HUMAN|.	C|L	812;718;589;199|405	ENSP00000423651:R812C;ENSP00000261439:R718C;ENSP00000396877:R589C;ENSP00000410167:R199C|.	ENSP00000261439:R718C|ENSP00000421641:S405L	R|S	+|+	1|2	0|0	TBC1D1|TBC1D1	37768049|37768049	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.966000|0.966000	0.64601|0.64601	0.803000|0.803000	0.27083|0.27083	0.813000|0.813000	0.34350|0.34350	-0.126000|-0.126000	0.14955|0.14955	CGT|TCG		0.488	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2		NM_015173		17	52	0	0	0	0.160694	0	17	52		
GABRA4	2557	broad.mit.edu	37	4	46979532	46979532	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:46979532G>A	ENST00000264318.3	-	4	1371	c.389C>T	c.(388-390)cCt>cTt	p.P130L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	130					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GAAAGTATCAGGGGTCCACAC	0.348																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(388-390)CCT>CTT		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						99.0	98.0	98.0					4																	46979532		2202	4300	6502	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979532G>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.389C>T	4.37:g.46979532G>A	ENSP00000264318:p.Pro130Leu						p.P130L	NM_000809	NP_000800	P48169	GBRA4_HUMAN			4	528	-			130			Extracellular (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.389C>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.041405	0.93685	.	.	ENSG00000109158	ENST00000264318	D	0.98567	-5.0	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98225	1.0480	10	0.87932	D	0	.	18.2112	0.89871	0.0:0.0:1.0:0.0	.	130	P48169	GBRA4_HUMAN	L	130	ENSP00000264318:P130L	ENSP00000264318:P130L	P	-	2	0	GABRA4	46674289	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.652000	0.98499	2.776000	0.95493	0.650000	0.86243	CCT		0.348	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1				32	33	0	0	0	0.144211	0	32	33		
CLGN	1047	broad.mit.edu	37	4	141327104	141327104	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:141327104C>G	ENST00000325617.5	-	5	851	c.411G>C	c.(409-411)ttG>ttC	p.L137F	CLGN_ENST00000414773.1_Missense_Mutation_p.L137F|CLGN_ENST00000537281.1_Missense_Mutation_p.L137F	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	137					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ACTGAACTATCAAGGGTTTAT	0.333																																						uc011chi.1		NaN																	0				ovary(2)|skin(1)	3						c.(409-411)TTG>TTC		calmegin precursor							95.0	95.0	95.0					4																	141327104		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141327104C>G	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.411G>C	4.37:g.141327104C>G	ENSP00000326699:p.Leu137Phe					CLGN_uc003iii.2_Missense_Mutation_p.L137F	p.L137F	NM_001130675	NP_001124147	O14967	CLGN_HUMAN			6	629	-	all_hematologic(180;0.162)		137			Lumenal (Potential).		B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.411G>C	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478522	0.63849	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667;ENST00000509477	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.97	4.25	0.50352	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.68317	2.08	0.58432	D	0.999996	P	0.36874	0.572	P	0.53518	0.728	T	0.76634	-0.2887	10	0.48119	T	0.1	-11.8255	12.2842	0.54783	0.0:0.864:0.0:0.136	.	137	O14967	CLGN_HUMAN	F	137;137;137;54;137	ENSP00000326699:L137F;ENSP00000392782:L137F;ENSP00000439381:L137F;ENSP00000424593:L137F	ENSP00000326699:L137F	L	-	3	2	CLGN	141546554	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	0.776000	0.26704	1.543000	0.49345	0.650000	0.86243	TTG		0.333	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2		NM_004362		8	49	0	0	0	0.069234	0	8	49		
ZNF827	152485	broad.mit.edu	37	4	146824287	146824287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:146824287C>A	ENST00000508784.1	-	2	351	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	ZNF827_ENST00000379448.4_Nonsense_Mutation_p.E42*|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TAGGATGCTTCTGACGGAGTC	0.532																																						uc003ikn.2		NaN																	0					0						c.(124-126)GAA>TAA		zinc finger protein 827							89.0	92.0	91.0					4																	146824287		2203	4300	6503	SO:0001587	stop_gained	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146824287C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.124G>T	4.37:g.146824287C>A	ENSP00000421863:p.Glu42*					ZNF827_uc003ikm.2_Nonsense_Mutation_p.E42*|ZNF827_uc010iox.2_Intron	p.E42*	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			2	172	-	all_hematologic(180;0.151)		42					B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37	c.124G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.020802	0.98006	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.2737	19.8182	0.96579	0.0:1.0:0.0:0.0	.	.	.	.	X	42;42;41	.	ENSP00000281318:E41X	E	-	1	0	ZNF827	147043737	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	7.416000	0.80143	2.700000	0.92200	0.561000	0.74099	GAA		0.532	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2		NM_178835		11	93	1	0	1.3612e-06	0.132662	1.42926e-06	11	93		
NR3C2	4306	broad.mit.edu	37	4	149073667	149073667	+	Silent	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:149073667A>G	ENST00000358102.3	-	6	2825	c.2463T>C	c.(2461-2463)caT>caC	p.H821H	NR3C2_ENST00000512865.1_Silent_p.H704H|NR3C2_ENST00000355292.3_Silent_p.H825H|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.H821H|NR3C2_ENST00000511528.1_Silent_p.H825H|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	821	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GGCTGTTCGTATGTTTGTACG	0.368																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.3		NaN																	0				large_intestine(1)	1						c.(2461-2463)CAT>CAC		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						135.0	133.0	133.0					4																	149073667		2203	4300	6503	SO:0001819	synonymous_variant	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149073667A>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2463T>C	4.37:g.149073667A>G						NR3C2_uc003ilk.3_Silent_p.H704H|NR3C2_uc010iph.2_Intron	p.H821H	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	6	2797	-	all_hematologic(180;0.151)		821			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	ENST00000358102.3	37	c.2463T>C	CCDS3772.1																																																																																				0.368	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1				7	81	0	0	0	0.27861	0	7	81		
DCLK2	166614	broad.mit.edu	37	4	151141909	151141909	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr4:151141909G>T	ENST00000296550.7	+	6	1865	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	DCLK2_ENST00000506325.1_Missense_Mutation_p.D370Y|DCLK2_ENST00000302176.8_Missense_Mutation_p.D388Y	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	371					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACCTGAGCTTGACCGTTGCAT	0.413																																					GBM(195;186 2215 13375 16801 37459)	uc003ilm.3		NaN																	0				ovary(3)	3						c.(1111-1113)GAC>TAC		doublecortin-like kinase 2 isoform a							143.0	116.0	125.0					4																	151141909		2203	4300	6503	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151141909G>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1111G>T	4.37:g.151141909G>T	ENSP00000296550:p.Asp371Tyr					DCLK2_uc003iln.3_Missense_Mutation_p.D370Y|DCLK2_uc003ilo.3_Missense_Mutation_p.D388Y|DCLK2_uc003ilp.3_RNA	p.D371Y	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN			6	1211	+	all_hematologic(180;0.151)		371					C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.1111G>T	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688268	0.29962	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.67865	0.9;0.9;-0.29	5.49	4.53	0.55603	.	1.014870	0.07846	N	0.963869	T	0.44393	0.1291	N	0.01705	-0.755	0.27852	N	0.940714	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.26573	-1.0099	10	0.54805	T	0.06	.	12.9586	0.58444	0.0:0.0:0.7711:0.2289	.	388;370;371	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	Y	371;370;388	ENSP00000296550:D371Y;ENSP00000427235:D370Y;ENSP00000303887:D388Y	ENSP00000296550:D371Y	D	+	1	0	DCLK2	151361359	0.005000	0.15991	0.984000	0.44739	0.789000	0.44602	1.220000	0.32491	2.733000	0.93635	0.655000	0.94253	GAC		0.413	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1		NM_001040260		8	18	1	0	1.76689e-08	0.058154	1.88349e-08	8	18		
MARCH11	441061	broad.mit.edu	37	5	16067594	16067594	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:16067594C>T	ENST00000332432.8	-	4	1394	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	399					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ACTGAAGTCACTCTCATCACA	0.443																																						uc003jfo.2		NaN																	0					0						c.(1195-1197)GTG>ATG		membrane-associated ring finger (C3HC4) 11							169.0	166.0	167.0					5																	16067594		1967	4162	6129	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067594C>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.1195G>A	5.37:g.16067594C>T	ENSP00000333181:p.Val399Met					MARCH11_uc010itw.1_Missense_Mutation_p.V155M	p.V399M	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			4	1408	-			399			PDZ-binding.		A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.1195G>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471247	0.84533	.	.	ENSG00000183654	ENST00000332432	T	0.36878	1.23	5.22	5.22	0.72569	.	0.229422	0.36303	N	0.002678	T	0.58552	0.2130	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.60890	-0.7173	10	0.87932	D	0	-21.9049	19.1617	0.93535	0.0:1.0:0.0:0.0	.	399	A6NNE9	MARHB_HUMAN	M	399	ENSP00000333181:V399M	ENSP00000333181:V399M	V	-	1	0	MARCH11	16120594	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.546000	0.67243	2.581000	0.87130	0.655000	0.94253	GTG		0.443	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2		NM_001102562		136	155	0	0	0	0.323286	0	136	155		
BDP1	55814	broad.mit.edu	37	5	70806316	70806316	+	Missense_Mutation	SNP	G	G	A	rs374517452		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:70806316G>A	ENST00000358731.4	+	17	3660	c.3397G>A	c.(3397-3399)Gag>Aag	p.E1133K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1133	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGACACCAGAGGTGATTGA	0.478																																						uc003kbp.1		NaN																	0				skin(2)	2						c.(3397-3399)GAG>AAG		transcription factor-like nuclear regulator		G	LYS/GLU	1,3629		0,1,1814	81.0	80.0	80.0		3397	2.4	0.0	5		80	0,8164		0,0,4082	no	missense	BDP1	NM_018429.2	56	0,1,5896	AA,AG,GG		0.0,0.0275,0.0085	probably-damaging	1133/2625	70806316	1,11793	1815	4082	5897	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70806316G>A	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3397G>A	5.37:g.70806316G>A	ENSP00000351575:p.Glu1133Lys					BDP1_uc003kbn.1_Missense_Mutation_p.E1133K|BDP1_uc003kbo.2_Missense_Mutation_p.E1133K	p.E1133K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	17	3660	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1133			6.|9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.3397G>A	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914096	0.52546	2.75E-4	0.0	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19532	2.14	3.29	2.42	0.29668	.	0.660669	0.12357	N	0.475994	T	0.37812	0.1017	M	0.70275	2.135	0.19300	N	0.999979	P;D;D	0.65815	0.793;0.995;0.995	B;D;D	0.63703	0.303;0.91;0.917	T	0.08889	-1.0700	10	0.42905	T	0.14	.	6.3486	0.21363	0.138:0.0:0.862:0.0	.	1133;1133;1133	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	1133;713	ENSP00000351575:E1133K	ENSP00000351575:E1133K	E	+	1	0	BDP1	70842072	0.003000	0.15002	0.003000	0.11579	0.078000	0.17371	1.167000	0.31847	0.956000	0.37904	0.205000	0.17691	GAG		0.478	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2		NM_018429		19	59	0	0	0	0.234183	0	19	59		
HSD17B4	3295	broad.mit.edu	37	5	118814608	118814608	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:118814608C>G	ENST00000256216.6	+	8	647	c.514C>G	c.(514-516)Ctg>Gtg	p.L172V	HSD17B4_ENST00000510025.1_Missense_Mutation_p.L148V|HSD17B4_ENST00000504811.1_Missense_Mutation_p.L197V|HSD17B4_ENST00000414835.2_Missense_Mutation_p.L32V|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000513628.1_Missense_Mutation_p.L35V|HSD17B4_ENST00000515320.1_Missense_Mutation_p.L154V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	172	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GTTGGGTCTTCTGGGCCTTGC	0.408																																					Colon(35;490 801 34689 41394 43344)	uc003ksj.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(514-516)CTG>GTG		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						139.0	137.0	138.0					5																	118814608		2202	4300	6502	SO:0001583	missense	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118814608C>G		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.514C>G	5.37:g.118814608C>G	ENSP00000256216:p.Leu172Val					HSD17B4_uc011cwg.1_Missense_Mutation_p.L148V|HSD17B4_uc011cwh.1_Missense_Mutation_p.L154V|HSD17B4_uc011cwi.1_Missense_Mutation_p.L197V|HSD17B4_uc003ksk.3_Missense_Mutation_p.L25V|HSD17B4_uc011cwj.1_Missense_Mutation_p.L25V|HSD17B4_uc010jcn.1_5'UTR	p.L172V	NM_000414	NP_000405	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	8	637	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	172			(3R)-hydroxyacyl-CoA dehydrogenase.		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	ENST00000256216.6	37	c.514C>G	CCDS4126.1	.	.	.	.	.	.	.	.	.	.	C	1.526	-0.545590	0.04024	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.22	2.13	0.27403	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.295799	0.33346	N	0.005015	T	0.66587	0.2804	N	0.04508	-0.205	0.80722	D	1	B;B;B;B	0.12013	0.005;0.001;0.002;0.003	B;B;B;B	0.19391	0.01;0.012;0.012;0.025	T	0.56745	-0.7928	10	0.06236	T	0.91	-1.2973	8.1251	0.30995	0.0:0.4551:0.3861:0.1588	.	197;154;148;172	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	V	172;154;148;197;32;35	ENSP00000256216:L172V;ENSP00000424613:L154V;ENSP00000424940:L148V;ENSP00000420914:L197V;ENSP00000411960:L32V;ENSP00000425993:L35V	ENSP00000256216:L172V	L	+	1	2	HSD17B4	118842507	0.998000	0.40836	1.000000	0.80357	0.774000	0.43823	0.533000	0.23082	0.683000	0.31428	-0.175000	0.13238	CTG		0.408	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3		NM_000414		38	71	0	0	0	0.246493	0	38	71		
PCDHA7	56141	broad.mit.edu	37	5	140214295	140214295	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:140214295C>T	ENST00000525929.1	+	1	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.I109I|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGAAAGGC	0.552																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NaN																	0				ovary(2)|skin(2)	4						c.(325-327)ATC>ATT		protocadherin alpha 7 isoform 1 precursor							144.0	172.0	163.0					5																	140214295		2203	4298	6501	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214295C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.327C>T	5.37:g.140214295C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.I109I	p.I109I	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	327	+			109			Cadherin 1.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.327C>T	CCDS54918.1																																																																																				0.552	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2		NM_018910		29	214	0	0	0	0.163468	0	29	214		
DOCK2	1794	broad.mit.edu	37	5	169494533	169494533	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:169494533A>T	ENST00000256935.8	+	45	4567	c.4487A>T	c.(4486-4488)gAg>gTg	p.E1496V	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.E988V|DOCK2_ENST00000540750.1_Missense_Mutation_p.E557V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1496	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCCTCTGGAGAATGCCATA	0.418																																						uc003maf.2		NaN																	0				ovary(5)|pancreas(2)	7						c.(4486-4488)GAG>GTG		dedicator of cytokinesis 2							137.0	126.0	130.0					5																	169494533		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169494533A>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4487A>T	5.37:g.169494533A>T	ENSP00000256935:p.Glu1496Val					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E988V|DOCK2_uc003mah.2_Missense_Mutation_p.E52V	p.E1496V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		45	4567	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1496			DHR-2.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.4487A>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419160	0.83559	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.24151	1.87;1.87;1.87	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.87827	2.91	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.97;0.999	D;D;D	0.85130	0.997;0.977;0.991	T	0.65537	-0.6144	10	0.87932	D	0	.	14.4623	0.67459	1.0:0.0:0.0:0.0	.	988;52;1496	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	V	1496;988;557	ENSP00000256935:E1496V;ENSP00000429283:E988V;ENSP00000438827:E557V	ENSP00000256935:E1496V	E	+	2	0	DOCK2	169427111	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.283000	0.95860	1.882000	0.54519	0.383000	0.25322	GAG		0.418	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2		NM_004946		20	41	0	0	0	0.219247	0	20	41		
COL11A2	1302	broad.mit.edu	37	6	33144976	33144976	+	Silent	SNP	G	G	A	rs373989427	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:33144976G>A	ENST00000374708.4	-	22	1998	c.1740C>T	c.(1738-1740)atC>atT	p.I580I	COL11A2_ENST00000374712.1_Silent_p.I585I|COL11A2_ENST00000374713.1_Silent_p.I619I|COL11A2_ENST00000361917.1_Silent_p.I559I|COL11A2_ENST00000341947.2_Silent_p.I666I|COL11A2_ENST00000357486.1_Silent_p.I645I|COL11A2_ENST00000374714.1_Silent_p.I640I|COL11A2_ENST00000395197.1_Silent_p.I606I|COL11A2_ENST00000477772.1_5'UTR	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	666	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.I666I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CATGAGGGCCGATGGCACCCT	0.547													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		17587	0.0		0.0	False		,,,				2504	0.0				Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(1996-1998)ATC>ATT		collagen, type XI, alpha 2 isoform 1		G	,,	3,3015		0,3,1506	53.0	62.0	59.0		1677,1998,1740	-5.2	0.9	6		59	0,5414		0,0,2707	no	coding-synonymous,coding-synonymous,coding-synonymous	COL11A2	NM_080679.2,NM_080680.2,NM_080681.2	,,	0,3,4213	AA,AG,GG		0.0,0.0994,0.0356	,,	559/1630,666/1737,580/1651	33144976	3,8429	1509	2707	4216	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33144976G>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1740C>T	6.37:g.33144976G>A						COL11A2_uc010jul.1_Missense_Mutation_p.S46L|COL11A2_uc003ocy.1_Silent_p.I580I|COL11A2_uc003ocz.1_Silent_p.I559I	p.I666I	NM_080680	NP_542411	P13942	COBA2_HUMAN			24	2226	-			666			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.1998C>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201260	0.22121	9.94E-4	0.0	ENSG00000204248	ENST00000395196	.	.	.	4.16	-5.16	0.02857	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13495	-1.0507	7	0.22109	T	0.4	.	8.481	0.33043	0.2762:0.1357:0.5882:0.0	.	72	A2ABA7	.	L	46	.	ENSP00000378622:S46L	S	-	2	0	COL11A2	33252954	0.000000	0.05858	0.936000	0.37596	0.893000	0.52053	-3.073000	0.00617	-1.207000	0.02637	0.643000	0.83706	TCG		0.547	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2				30	33	0	0	0	0.193644	0	30	33		
UHRF1BP1	54887	broad.mit.edu	37	6	34825934	34825934	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34825934G>C	ENST00000192788.5	+	14	1972	c.1801G>C	c.(1801-1803)Gag>Cag	p.E601Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.E601Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	601							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAGCGGGCAGAGTTGCATCG	0.473																																						uc003oju.3		NaN																	0				ovary(3)	3						c.(1801-1803)GAG>CAG		ICBP90 binding protein 1							99.0	97.0	98.0					6																	34825934		1993	4173	6166	SO:0001583	missense	54887							g.chr6:34825934G>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1801G>C	6.37:g.34825934G>C	ENSP00000192788:p.Glu601Gln					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.E601Q	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	2035	+			601					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1801G>C	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	3.753	-0.051275	0.07407	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.06687	3.27;3.27	5.79	0.781	0.18561	.	0.909229	0.09595	N	0.781031	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.48692	-0.9013	10	0.25751	T	0.34	-0.672	3.1304	0.06421	0.2234:0.1458:0.5158:0.115	.	601	Q6BDS2	URFB1_HUMAN	Q	601	ENSP00000192788:E601Q;ENSP00000400628:E601Q	ENSP00000192788:E601Q	E	+	1	0	UHRF1BP1	34933912	0.015000	0.18098	0.025000	0.17156	0.442000	0.32017	1.834000	0.39171	0.184000	0.20083	0.655000	0.94253	GAG		0.473	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754		35	46	0	0	0	0.214465	0	35	46		
UHRF1BP1	54887	broad.mit.edu	37	6	34826146	34826146	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34826146G>A	ENST00000192788.5	+	14	2184	c.2013G>A	c.(2011-2013)caG>caA	p.Q671Q	UHRF1BP1_ENST00000452449.2_Silent_p.Q671Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	671							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATGCCTTTCAGATGGATTCCT	0.488																																						uc003oju.3		NaN																	0				ovary(3)	3						c.(2011-2013)CAG>CAA		ICBP90 binding protein 1							153.0	141.0	144.0					6																	34826146		1916	4141	6057	SO:0001819	synonymous_variant	54887							g.chr6:34826146G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2013G>A	6.37:g.34826146G>A						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.Q671Q	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	2247	+			671					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.2013G>A	CCDS43455.1																																																																																				0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754		41	70	0	0	0	0.323286	0	41	70		
UHRF1BP1	54887	broad.mit.edu	37	6	34826515	34826515	+	Silent	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:34826515G>A	ENST00000192788.5	+	14	2553	c.2382G>A	c.(2380-2382)ctG>ctA	p.L794L	UHRF1BP1_ENST00000452449.2_Silent_p.L794L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	794							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGAAATTCTGAAAGAAGGCA	0.493																																						uc003oju.3		NaN																	0				ovary(3)	3						c.(2380-2382)CTG>CTA		ICBP90 binding protein 1							122.0	118.0	119.0					6																	34826515		1928	4140	6068	SO:0001819	synonymous_variant	54887							g.chr6:34826515G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2382G>A	6.37:g.34826515G>A						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.L794L	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	2616	+			794					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.2382G>A	CCDS43455.1																																																																																				0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754		77	79	0	0	0	0.323286	0	77	79		
MDN1	23195	broad.mit.edu	37	6	90398348	90398348	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:90398348A>G	ENST00000369393.3	-	66	11318	c.11203T>C	c.(11203-11205)Tca>Cca	p.S3735P	MDN1_ENST00000428876.1_Missense_Mutation_p.S3735P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3735					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAGCCTCTGAGAAACCTTGA	0.537																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(11203-11205)TCA>CCA		MDN1, midasin homolog							81.0	72.0	75.0					6																	90398348		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90398348A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11203T>C	6.37:g.90398348A>G	ENSP00000358400:p.Ser3735Pro						p.S3735P	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	66	11319	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3735					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.11203T>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.049018	0.36181	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03272	3.99;3.99	5.44	4.15	0.48705	.	0.344435	0.27604	N	0.018621	T	0.02012	0.0063	L	0.60455	1.87	0.29190	N	0.875943	P	0.49961	0.93	P	0.44860	0.462	T	0.44952	-0.9294	10	0.30854	T	0.27	.	6.0927	0.20003	0.6112:0.1245:0.0:0.2643	.	3735	Q9NU22	MDN1_HUMAN	P	3735	ENSP00000358400:S3735P;ENSP00000413970:S3735P	ENSP00000358400:S3735P	S	-	1	0	MDN1	90455069	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	2.282000	0.43461	2.053000	0.61076	0.254000	0.18369	TCA		0.537	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				8	16	0	0	0	0.307466	0	8	16		
TULP4	56995	broad.mit.edu	37	6	158923390	158923390	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:158923390G>A	ENST00000367097.3	+	13	4052	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	899					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAACGTGGAGGAGGTGTGCCG	0.642																																						uc003qrf.2		NaN																	0				ovary(1)	1						c.(2695-2697)GAG>AAG		tubby like protein 4 isoform 1							70.0	74.0	72.0					6																	158923390		2203	4300	6503	SO:0001583	missense	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158923390G>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2695G>A	6.37:g.158923390G>A	ENSP00000356064:p.Glu899Lys					TULP4_uc003qrg.2_Intron	p.E899K	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	13	4052	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	899					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	ENST00000367097.3	37	c.2695G>A	CCDS34561.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993726	0.93167	.	.	ENSG00000130338	ENST00000367097	T	0.70631	-0.5	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.82985	-0.0185	10	0.87932	D	0	-35.6446	18.5327	0.90999	0.0:0.0:1.0:0.0	.	899	Q9NRJ4	TULP4_HUMAN	K	899	ENSP00000356064:E899K	ENSP00000356064:E899K	E	+	1	0	TULP4	158843378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.973000	0.93428	2.379000	0.81126	0.561000	0.74099	GAG		0.642	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1		NM_020245		47	72	0	0	0	0.323286	0	47	72		
ADAP1	11033	broad.mit.edu	37	7	938746	938746	+	Silent	SNP	C	C	T	rs146090079	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:938746C>T	ENST00000265846.5	-	10	1239	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	ADAP1_ENST00000539900.1_Silent_p.T351T|ADAP1_ENST00000449296.2_Silent_p.T268T	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	340	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GGTCGGACTCCGTCTCGCAGG	0.697													C|||	4	0.000798722	0.003	0.0	5008	,	,		16855	0.0		0.0	False		,,,				2504	0.0					uc003sjo.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1018-1020)ACG>ACA		centaurin, alpha 1		C		1,4403		0,1,2201	43.0	41.0	42.0		1020	-8.7	0.0	7	dbSNP_134	42	0,8586		0,0,4293	no	coding-synonymous	ADAP1	NM_006869.2		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		340/375	938746	1,12989	2202	4293	6495	SO:0001819	synonymous_variant	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:938746C>T	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.1020G>A	7.37:g.938746C>T						ADAP1_uc003sjm.3_Silent_p.T166T|ADAP1_uc011jvs.1_Silent_p.T245T|ADAP1_uc003sjn.3_Silent_p.T268T|ADAP1_uc010ksc.2_Silent_p.T268T	p.T340T	NM_006869	NP_006860	O75689	ADAP1_HUMAN			10	1196	-			340			PH 2.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Silent	SNP	ENST00000265846.5	37	c.1020G>A	CCDS5318.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	4.397	0.073384	0.08485	2.27E-4	0.0	ENSG00000105963	ENST00000446141	.	.	.	4.37	-8.73	0.00841	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.43572	-0.9383	4	.	.	.	-24.2932	1.9546	0.03373	0.4109:0.1538:0.0814:0.3538	.	.	.	.	Q	323	.	.	R	-	2	0	ADAP1	905272	0.000000	0.05858	0.000000	0.03702	0.509000	0.34042	-6.018000	0.00085	-3.365000	0.00178	-1.249000	0.01516	CGG		0.697	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2		NM_006869		39	63	0	0	0	0.268233	0	39	63		
DAGLB	221955	broad.mit.edu	37	7	6449968	6449968	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:6449968C>G	ENST00000297056.6	-	14	1782	c.1613G>C	c.(1612-1614)gGa>gCa	p.G538A	DAGLB_ENST00000436575.1_Missense_Mutation_p.G497A|DAGLB_ENST00000425398.2_Missense_Mutation_p.G409A|DAGLB_ENST00000428902.2_3'UTR	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	538					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GTTGGGGTTTCCTCCAAACAG	0.592																																						uc003sqa.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1612-1614)GGA>GCA		diacylglycerol lipase, beta isoform 1							69.0	62.0	64.0					7																	6449968		2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449968C>G	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1613G>C	7.37:g.6449968C>G	ENSP00000297056:p.Gly538Ala					DAGLB_uc003spy.2_Missense_Mutation_p.G84A|DAGLB_uc003spz.2_Missense_Mutation_p.G235A|DAGLB_uc011jwt.1_Missense_Mutation_p.G352A|DAGLB_uc011jwu.1_Missense_Mutation_p.G409A|DAGLB_uc003sqb.2_Missense_Mutation_p.G257A|DAGLB_uc003sqc.2_Missense_Mutation_p.G257A|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.G497A	p.G538A	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	14	1783	-		Ovarian(82;0.232)	538			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1613G>C	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	.	13.09	2.132531	0.37630	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.43688	0.94;0.96;0.94	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.98	D;D;D;P	0.91635	0.999;0.999;0.962;0.656	T	0.56517	-0.7966	10	0.09338	T	0.73	-23.0434	16.5094	0.84280	0.1319:0.8681:0.0:0.0	.	409;352;538;235	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	A	538;409;497	ENSP00000297056:G538A;ENSP00000391171:G409A;ENSP00000404785:G497A	ENSP00000297056:G538A	G	-	2	0	DAGLB	6416493	1.000000	0.71417	0.875000	0.34327	0.009000	0.06853	4.398000	0.59697	1.504000	0.48704	-0.188000	0.12872	GGA		0.592	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2		NM_139179		36	56	0	0	0	0.257332	0	36	56		
DNAH11	8701	broad.mit.edu	37	7	21932046	21932046	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:21932046G>A	ENST00000409508.3	+	77	12542	c.12511G>A	c.(12511-12513)Gaa>Aaa	p.E4171K	DNAH11_ENST00000328843.6_Missense_Mutation_p.E4178K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4178					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTCAAGACTGAAGATGAACT	0.478									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(12532-12534)GAA>AAA		dynein, axonemal, heavy chain 11							238.0	232.0	234.0					7																	21932046		1946	4148	6094	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21932046G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12511G>A	7.37:g.21932046G>A	ENSP00000475939:p.Glu4171Lys						p.E4178K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			78	12563	+			4178					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12532G>A		.	.	.	.	.	.	.	.	.	.	G	28.3	4.910160	0.92107	.	.	ENSG00000105877	ENST00000328843	T	0.09911	2.93	6.08	6.08	0.98989	Dynein heavy chain (1);	1.519900	0.04098	N	0.312405	T	0.16685	0.0401	.	.	.	0.80722	D	1	P	0.42161	0.772	B	0.37198	0.243	T	0.47898	-0.9081	9	0.51188	T	0.08	.	20.2738	0.98482	0.0:0.0:1.0:0.0	.	4178	Q96DT5	DYH11_HUMAN	K	4178	ENSP00000330671:E4178K	ENSP00000330671:E4178K	E	+	1	0	DNAH11	21898571	1.000000	0.71417	0.986000	0.45419	0.907000	0.53573	7.384000	0.79751	2.894000	0.99253	0.655000	0.94253	GAA		0.478	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		124	215	0	0	0	0.323286	0	124	215		
UBE2D4	51619	broad.mit.edu	37	7	43982600	43982600	+	Silent	SNP	T	T	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:43982600T>C	ENST00000222402.3	+	4	257	c.168T>C	c.(166-168)ttT>ttC	p.F56F	UBE2D4_ENST00000394798.4_Silent_p.F18F|POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000446008.1_Silent_p.F56F	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)	56					protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						CCATCCACTTTCCTACAGATT	0.507																																					Esophageal Squamous(27;401 815 16344 30604)	uc003tja.1		NaN																	0					0						c.(166-168)TTT>TTC		ubiquitin-conjugating enzyme E2D 4 (putative)							134.0	116.0	122.0					7																	43982600		2203	4300	6503	SO:0001819	synonymous_variant	51619				protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr7:43982600T>C	BC004104	CCDS5474.1	7p13	2005-08-11			ENSG00000078967	ENSG00000078967		"""Ubiquitin-conjugating enzymes E2"""	21647	protein-coding gene	gene with protein product						12690205	Standard	NM_015983		Approved	HBUCE1	uc003tja.2	Q9Y2X8	OTTHUMG00000128971	ENST00000222402.3:c.168T>C	7.37:g.43982600T>C						POLR2J4_uc003tjc.2_RNA|UBE2D4_uc003tjb.1_Silent_p.F18F	p.F56F	NM_015983	NP_057067	Q9Y2X8	UB2D4_HUMAN			4	253	+			56					A4D1V0	Silent	SNP	ENST00000222402.3	37	c.168T>C	CCDS5474.1																																																																																				0.507	UBE2D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250958.2		NM_015983		64	90	0	0	0	0.323286	0	64	90		
NPC1L1	29881	broad.mit.edu	37	7	44573141	44573141	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:44573141C>T	ENST00000289547.4	-	8	2353	c.2298G>A	c.(2296-2298)atG>atA	p.M766I	NPC1L1_ENST00000423141.1_3'UTR|NPC1L1_ENST00000381160.3_Missense_Mutation_p.M766I|NPC1L1_ENST00000546276.1_Missense_Mutation_p.M766I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	766	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCACAGCTGGCATGGGGGTCA	0.632																																						uc003tlb.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2296-2298)ATG>ATA		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						58.0	58.0	58.0					7																	44573141		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44573141C>T		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2298G>A	7.37:g.44573141C>T	ENSP00000289547:p.Met766Ile					NPC1L1_uc003tlc.2_Missense_Mutation_p.M766I|NPC1L1_uc011kbw.1_Missense_Mutation_p.M766I|NPC1L1_uc003tld.2_3'UTR	p.M766I	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			8	2354	-			766			Extracellular (Potential).|SSD.		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2298G>A	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	27.1	4.801563	0.90538	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.95518	-3.73;-3.73;-3.73	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.96923	0.8995	M	0.67625	2.065	0.58432	D	0.999997	P;D;D	0.76494	0.678;0.988;0.999	P;D;D	0.71656	0.835;0.934;0.974	D	0.96522	0.9386	10	0.40728	T	0.16	-46.062	15.2998	0.73940	0.0:1.0:0.0:0.0	.	766;766;766	B7ZLE6;Q17RV5;D3DVK9	.;.;.	I	766	ENSP00000289547:M766I;ENSP00000370552:M766I;ENSP00000438033:M766I	ENSP00000289547:M766I	M	-	3	0	NPC1L1	44539666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.207000	0.77899	2.197000	0.70478	0.511000	0.50034	ATG		0.632	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1		NM_013389		8	90	0	0	0	0.27861	0	8	90		
PKD1L1	168507	broad.mit.edu	37	7	47884664	47884664	+	Silent	SNP	G	G	A	rs140257069		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:47884664G>A	ENST00000289672.2	-	33	5216	c.5166C>T	c.(5164-5166)ctC>ctT	p.L1722L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1722	GPS.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGAATGCCGCGAGGCGATGGT	0.463																																						uc003tny.1		NaN																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5164-5166)CTC>CTT		polycystin-1L1							83.0	75.0	78.0					7																	47884664		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47884664G>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5166C>T	7.37:g.47884664G>A							p.L1722L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			33	5166	-			1722			Extracellular (Potential).|GPS.		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.5166C>T	CCDS34633.1																																																																																				0.463	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295		27	31	0	0	0	0.183431	0	27	31		
PSPH	5723	broad.mit.edu	37	7	56079478	56079478	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:56079478G>T	ENST00000395471.3	-	8	1460	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Missense_Mutation_p.L219M			P78330	SERB_HUMAN	phosphoserine phosphatase	219					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTCCCAGCAGCTCTACAAAA	0.378																																						uc003trg.2		NaN																	0				ovary(1)|skin(1)	2						c.(655-657)CTG>ATG		phosphoserine phosphatase							109.0	93.0	98.0					7																	56079478		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56079478G>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.655C>A	7.37:g.56079478G>T	ENSP00000378854:p.Leu219Met					PSPH_uc003trh.2_Missense_Mutation_p.L219M|PSPH_uc003tri.2_Missense_Mutation_p.L219M|PSPH_uc003trj.2_Missense_Mutation_p.L248M	p.L219M	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	1018	-	Breast(14;0.214)		219					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.655C>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170376	0.38315	.	.	ENSG00000146733	ENST00000275605;ENST00000395471	D;D	0.86164	-2.08;-2.08	4.92	4.92	0.64577	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	M	0.79123	2.44	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.54965	0.765;0.704	D	0.91554	0.5259	10	0.59425	D	0.04	-15.812	12.5909	0.56443	0.0829:0.0:0.9171:0.0	.	219;219	Q53EY1;P78330	.;SERB_HUMAN	M	219	ENSP00000275605:L219M;ENSP00000378854:L219M	ENSP00000275605:L219M	L	-	1	2	PSPH	56046972	1.000000	0.71417	0.960000	0.40013	0.016000	0.09150	5.271000	0.65553	2.259000	0.74868	0.555000	0.69702	CTG		0.378	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1		NM_004577		22	122	1	0	3.28513e-13	0.294199	3.63093e-13	22	122		
RABGEF1	27342	broad.mit.edu	37	7	66273984	66273984	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:66273984G>A	ENST00000284957.5	+	9	1266	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	GTF2IRD1P1_ENST00000457166.1_RNA|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Missense_Mutation_p.E437K|KCTD7_ENST00000510829.2_Missense_Mutation_p.E397K|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E410K|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E411K|KCTD7_ENST00000451741.2_Missense_Mutation_p.E397K|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E397K			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	614					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GCAAGAAGCTGAGAGTTGGTC	0.453																																						uc011kee.1		NaN																	0				ovary(1)	1						c.(1231-1233)GAG>AAG		RAB guanine nucleotide exchange factor (GEF) 1							91.0	85.0	87.0					7																	66273984		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66273984G>A	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1189G>A	7.37:g.66273984G>A	ENSP00000284957:p.Glu397Lys					RABGEF1_uc003tvf.2_Missense_Mutation_p.E270K|RABGEF1_uc003tvg.2_Missense_Mutation_p.E205K|RABGEF1_uc010lag.2_Missense_Mutation_p.E397K|RABGEF1_uc003tvh.2_Missense_Mutation_p.E397K|RABGEF1_uc003tvi.2_Missense_Mutation_p.E231K	p.E411K	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			9	1395	+			614					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.1231G>A	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845441	0.71603	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.46451	0.87;0.89;0.89;0.89;0.89;0.88;0.88	5.83	5.83	0.93111	.	0.390697	0.32190	N	0.006453	T	0.40522	0.1120	L	0.47716	1.5	0.58432	D	0.999998	B;B;B	0.16166	0.011;0.002;0.016	B;B;B	0.17098	0.008;0.002;0.017	T	0.11991	-1.0565	10	0.22706	T	0.39	-29.1825	19.551	0.95319	0.0:0.0:1.0:0.0	.	411;231;614	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	K	481;437;397;397;313;397;397;410;411	ENSP00000370208:E437K;ENSP00000421124:E397K;ENSP00000398177:E397K;ENSP00000284957:E397K;ENSP00000415815:E397K;ENSP00000403429:E410K;ENSP00000390480:E411K	ENSP00000370207:E481K	E	+	1	0	RABGEF1;KCTD7	65911419	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	7.540000	0.82074	2.937000	0.99478	0.650000	0.86243	GAG		0.453	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3		NM_014504		25	15	0	0	0	0.294199	0	25	15		
RABGEF1	27342	broad.mit.edu	37	7	66274059	66274059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:66274059G>C	ENST00000284957.5	+	9	1341	c.1264G>C	c.(1264-1266)Gaa>Caa	p.E422Q	GTF2IRD1P1_ENST00000457166.1_RNA|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Missense_Mutation_p.E462Q|KCTD7_ENST00000510829.2_Missense_Mutation_p.E422Q|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E435Q|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E436Q|KCTD7_ENST00000451741.2_Missense_Mutation_p.E422Q|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E422Q			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	639					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TCAGTTGAATGAACGACAAGA	0.428																																						uc011kee.1		NaN																	0				ovary(1)	1						c.(1306-1308)GAA>CAA		RAB guanine nucleotide exchange factor (GEF) 1							90.0	86.0	87.0					7																	66274059		2203	4300	6503	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66274059G>C	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.1264G>C	7.37:g.66274059G>C	ENSP00000284957:p.Glu422Gln					RABGEF1_uc003tvf.2_Missense_Mutation_p.E295Q|RABGEF1_uc003tvg.2_Missense_Mutation_p.E230Q|RABGEF1_uc010lag.2_Missense_Mutation_p.E422Q|RABGEF1_uc003tvh.2_Missense_Mutation_p.E422Q|RABGEF1_uc003tvi.2_Missense_Mutation_p.E256Q	p.E436Q	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			9	1470	+			639			Potential.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.1306G>C	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619885	0.28801	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.46819	0.86;0.89;0.89;0.89;0.89;0.88;0.88	6.17	6.17	0.99709	.	0.324733	0.37906	N	0.001891	T	0.30510	0.0767	N	0.22421	0.69	0.42476	D	0.992842	P;B;B	0.40000	0.698;0.129;0.27	B;B;B	0.34489	0.081;0.027;0.184	T	0.09930	-1.0652	10	0.17832	T	0.49	-24.0863	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	436;256;639	B4DZM7;B3KMF1;Q9UJ41	.;.;RABX5_HUMAN	Q	506;462;422;422;338;422;422;435;436	ENSP00000370208:E462Q;ENSP00000421124:E422Q;ENSP00000398177:E422Q;ENSP00000284957:E422Q;ENSP00000415815:E422Q;ENSP00000403429:E435Q;ENSP00000390480:E436Q	ENSP00000370207:E506Q	E	+	1	0	RABGEF1;KCTD7	65911494	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.318000	0.51975	2.941000	0.99782	0.655000	0.94253	GAA		0.428	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3		NM_014504		18	32	0	0	0	0.175082	0	18	32		
ZNF655	79027	broad.mit.edu	37	7	99170613	99170613	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:99170613G>C	ENST00000394163.2	+	3	1065	c.882G>C	c.(880-882)aaG>aaC	p.K294N	ZNF655_ENST00000493277.1_Missense_Mutation_p.K329N|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000424881.1_Missense_Mutation_p.K329N|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.K294N|GS1-259H13.10_ENST00000455905.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	294					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TTCAGCATAAGAAAATTCACA	0.383																																						uc003urh.2		NaN																	0				ovary(1)	1						c.(880-882)AAG>AAC		zinc finger protein 655 isoform a							69.0	68.0	68.0					7																	99170613		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170613G>C	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.882G>C	7.37:g.99170613G>C	ENSP00000377718:p.Lys294Asn					ZNF655_uc010lga.2_Missense_Mutation_p.K329N|ZNF655_uc010lgc.2_Missense_Mutation_p.K329N|ZNF655_uc003urj.2_Missense_Mutation_p.K294N|ZNF655_uc003urk.2_Missense_Mutation_p.K131N|ZNF655_uc010lgd.2_Missense_Mutation_p.K131N	p.K294N	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1275	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		294					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.882G>C	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551794	0.45487	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	5.06	5.06	0.68205	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.145914	0.32068	N	0.006639	T	0.19565	0.0470	L	0.45581	1.43	0.80722	D	1	B;B	0.30973	0.302;0.201	B;B	0.33620	0.167;0.081	T	0.02257	-1.1187	10	0.72032	D	0.01	-1.5964	14.6747	0.68969	0.0:0.0:1.0:0.0	.	329;294	Q8N720-3;Q8N720	.;ZN655_HUMAN	N	294;329;329;294	ENSP00000252713:K294N;ENSP00000419135:K329N;ENSP00000393876:K329N;ENSP00000377718:K294N	ENSP00000252713:K294N	K	+	3	2	ZNF655	99008549	0.008000	0.16893	0.988000	0.46212	0.882000	0.50991	1.587000	0.36622	2.731000	0.93534	0.650000	0.86243	AAG		0.383	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1		NM_138494		30	66	0	0	0	0.125774	0	30	66		
STAG3	10734	broad.mit.edu	37	7	99798542	99798542	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:99798542G>T	ENST00000426455.1	+	19	2418	c.2011G>T	c.(2011-2013)Gta>Tta	p.V671L	GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.V671L|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.V613L	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	671					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCCAGCTAGTAGATTTGCT	0.592																																						uc003utx.1		NaN																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(2011-2013)GTA>TTA		stromal antigen 3							44.0	41.0	42.0					7																	99798542		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99798542G>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2011G>T	7.37:g.99798542G>T	ENSP00000400359:p.Val671Leu					STAG3_uc010lgs.1_Missense_Mutation_p.V459L|STAG3_uc011kjk.1_Missense_Mutation_p.V613L|GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc003uua.3_3'UTR|GATS_uc010lgt.2_RNA|STAG3_uc003uub.1_5'UTR	p.V671L	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			19	2166	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		671					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.2011G>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	6.136	0.393247	0.11638	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.20881	2.04;2.04;2.04	5.47	1.46	0.22682	Armadillo-like helical (1);Armadillo-type fold (1);	0.305652	0.23079	N	0.052174	T	0.10680	0.0261	N	0.17278	0.47	0.54753	D	0.999985	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.002	T	0.13683	-1.0500	10	0.49607	T	0.09	-2.6626	4.6034	0.12364	0.3581:0.1524:0.4895:0.0	.	613;671	B4DZ10;Q9UJ98	.;STAG3_HUMAN	L	671;613;629;671	ENSP00000400359:V671L;ENSP00000377586:V613L;ENSP00000319318:V671L	ENSP00000319318:V671L	V	+	1	0	STAG3	99636478	0.077000	0.21312	0.033000	0.17914	0.096000	0.18686	0.436000	0.21526	-0.018000	0.14079	-0.175000	0.13238	GTA		0.592	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2		NM_012447		10	67	1	0	2.31682e-05	0.132662	2.37333e-05	10	67		
MUC17	140453	broad.mit.edu	37	7	100683101	100683101	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:100683101A>G	ENST00000306151.4	+	3	8468	c.8404A>G	c.(8404-8406)Acc>Gcc	p.T2802A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2802	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)					CAGCATGCCAACCTCAACTCC	0.493																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(8404-8406)ACC>GCC		mucin 17 precursor							255.0	256.0	256.0					7																	100683101		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683101A>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.8404A>G	7.37:g.100683101A>G	ENSP00000302716:p.Thr2802Ala					MUC17_uc010lho.1_RNA	p.T2802A	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	8457	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2802			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8404A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	6.642	0.486946	0.12641	.	.	ENSG00000169876	ENST00000306151	T	0.01918	4.56	1.1	-0.348	0.12613	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.42464	-0.9450	9	0.10377	T	0.69	.	4.8994	0.13767	0.373:0.0:0.627:0.0	.	2802	Q685J3	MUC17_HUMAN	A	2802	ENSP00000302716:T2802A	ENSP00000302716:T2802A	T	+	1	0	MUC17	100469821	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-2.315000	0.01124	-0.095000	0.12351	0.113000	0.15668	ACC		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		109	388	0	0	0	0.323286	0	109	388		
EPHB6	2051	broad.mit.edu	37	7	142567654	142567654	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:142567654G>C	ENST00000392957.2	+	17	3329	c.2542G>C	c.(2542-2544)Ggg>Cgg	p.G848R	EPHB6_ENST00000442129.1_Missense_Mutation_p.G848R|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.G571R	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	848	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGAGCTTTGGGATACTCAT	0.522																																						uc011kst.1		NaN																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(2542-2544)GGG>CGG		ephrin receptor EphB6 precursor							147.0	120.0	129.0					7																	142567654		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142567654G>C	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2542G>C	7.37:g.142567654G>C	ENSP00000376684:p.Gly848Arg					EPHB6_uc011ksu.1_Missense_Mutation_p.G848R|EPHB6_uc003wbs.2_Missense_Mutation_p.G556R|EPHB6_uc003wbt.2_Missense_Mutation_p.G322R|EPHB6_uc003wbu.2_Missense_Mutation_p.G556R|EPHB6_uc003wbv.2_Missense_Mutation_p.G232R	p.G848R	NM_004445	NP_004436	O15197	EPHB6_HUMAN			17	3329	+	Melanoma(164;0.059)		848			Cytoplasmic (Potential).|Protein kinase.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.2542G>C	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	32	5.133406	0.94517	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.87809	-2.3;-2.3;-2.3	5.69	5.69	0.88448	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000221	D	0.96895	0.8986	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98525	1.0625	10	0.87932	D	0	.	18.8176	0.92084	0.0:0.0:1.0:0.0	.	848;571	O15197;O15197-2	EPHB6_HUMAN;.	R	848;848;571	ENSP00000376684:G848R;ENSP00000410789:G848R;ENSP00000409061:G571R	ENSP00000376684:G848R	G	+	1	0	EPHB6	142277776	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.685000	0.98661	2.682000	0.91365	0.563000	0.77884	GGG		0.522	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1				24	28	0	0	0	0.134883	0	24	28		
KMT2C	58508	broad.mit.edu	37	7	151879673	151879673	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr7:151879673G>A	ENST00000262189.6	-	36	5490	c.5272C>T	c.(5272-5274)Cgt>Tgt	p.R1758C	KMT2C_ENST00000355193.2_Missense_Mutation_p.R1758C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1758	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTTTCTGACGCATTTGCTAT	0.363																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(5272-5274)CGT>TGT		myeloid/lymphoid or mixed-lineage leukemia 3																																				SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151879673G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5272C>T	7.37:g.151879673G>A	ENSP00000262189:p.Arg1758Cys					MLL3_uc003wkz.2_Missense_Mutation_p.R819C	p.R1758C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	5491	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1758			Potential.|Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.5272C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665596	0.47677	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.86230	-2.09;-2.09	5.62	5.62	0.85841	.	0.000000	0.45361	D	0.000367	D	0.91898	0.7435	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.92305	0.5853	10	0.87932	D	0	.	19.6554	0.95833	0.0:0.0:1.0:0.0	.	1758;819	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	C	1758	ENSP00000262189:R1758C;ENSP00000347325:R1758C	ENSP00000262189:R1758C	R	-	1	0	MLL3	151510606	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.716000	0.68437	2.653000	0.90120	0.557000	0.71058	CGT		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				28	59	0	0	0	0.144211	0	28	59		
CSMD1	64478	broad.mit.edu	37	8	3265577	3265577	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:3265577C>T	ENST00000520002.1	-	15	2473	c.1918G>A	c.(1918-1920)Gcg>Acg	p.A640T	CSMD1_ENST00000539096.1_Missense_Mutation_p.A639T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A639T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A640T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A640T|CSMD1_ENST00000602723.1_Missense_Mutation_p.A640T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A639T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	640	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.A639T(2)|p.A368T(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTGACCGCGAGAAAGTCA	0.453																																						uc011kwk.1		NaN																	4	Substitution - Missense(4)		prostate(2)|endometrium(2)	breast(20)|large_intestine(5)	25						c.(1918-1920)GCG>ACG		CUB and Sushi multiple domains 1 precursor							88.0	79.0	82.0					8																	3265577		1921	4125	6046	SO:0001583	missense	64478					integral to membrane		g.chr8:3265577C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1918G>A	8.37:g.3265577C>T	ENSP00000430733:p.Ala640Thr					CSMD1_uc011kwj.1_Missense_Mutation_p.A32T	p.A640T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	14	2308	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	640			Extracellular (Potential).|CUB 4.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1918G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.446|4.446	0.082600|0.082600	0.08533|0.08533	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.18016|.	2.24;2.24;2.24;2.24;2.24|.	5.23|5.23	4.35|4.35	0.52113|0.52113	CUB (5);|.	0.236486|.	0.35936|.	N|.	0.002888|.	T|T	0.15132|0.15132	0.0365|0.0365	N|N	0.02960|0.02960	-0.455|-0.455	0.09310|0.09310	N|N	1|1	D;B|.	0.89917|.	1.0;0.003|.	D;B|.	0.87578|.	0.998;0.006|.	T|T	0.12319|0.12319	-1.0552|-1.0552	10|5	0.11485|.	T|.	0.65|.	.|.	8.025|8.025	0.30431|0.30431	0.0:0.8129:0.0:0.1871|0.0:0.8129:0.0:0.1871	.|.	640;640|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	T|H	640;640;502;639;639;639|119	ENSP00000383047:A640T;ENSP00000430733:A640T;ENSP00000441462:A639T;ENSP00000446243:A639T;ENSP00000441675:A639T|.	ENSP00000320445:A502T|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	3252984|3252984	0.228000|0.228000	0.23718|0.23718	0.123000|0.123000	0.21794|0.21794	0.387000|0.387000	0.30353|0.30353	0.692000|0.692000	0.25482|0.25482	2.437000|2.437000	0.82529|0.82529	0.467000|0.467000	0.42956|0.42956	GCG|CGC		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2		NM_033225		6	32	0	0	0	0.307466	0	6	32		
CHMP7	91782	broad.mit.edu	37	8	23112846	23112846	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:23112846C>T	ENST00000397677.1	+	4	1206	c.558C>T	c.(556-558)ctC>ctT	p.L186L	CHMP7_ENST00000313219.7_Silent_p.L186L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	186					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.L186L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCAGCACCCTCTGTGCTAACT	0.582																																						uc003xdc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(556-558)CTC>CTT		CHMP family, member 7							95.0	88.0	90.0					8																	23112846		2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23112846C>T	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.558C>T	8.37:g.23112846C>T						CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.L76L|CHMP7_uc003xde.2_Silent_p.L44L	p.L186L	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	1206	+		Prostate(55;0.0513)	186					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.558C>T	CCDS6040.1																																																																																				0.582	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1		NM_152272		28	41	0	0	0	0.125774	0	28	41		
PPP2R2A	5520	broad.mit.edu	37	8	26227900	26227900	+	Silent	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:26227900C>T	ENST00000380737.3	+	10	1644	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L	PPP2R2A_ENST00000315985.7_Silent_p.L449L	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	439					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TACAAACAATCTGTATATATT	0.393																																						uc003xeu.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1315-1317)CTG>TTG		alpha isoform of regulatory subunit B55, protein							69.0	72.0	71.0					8																	26227900		2203	4300	6503	SO:0001819	synonymous_variant	5520				protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chr8:26227900C>T	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1315C>T	8.37:g.26227900C>T						PPP2R2A_uc003xek.2_Silent_p.L440L|PPP2R2A_uc011laf.1_Silent_p.L449L	p.L439L	NM_002717	NP_002708	P63151	2ABA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1617	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)	439			WD 7.		B2RBU8|B4E1T7|P50409|Q00007	Silent	SNP	ENST00000380737.3	37	c.1315C>T	CCDS34867.1																																																																																				0.393	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2		NM_002717		29	50	0	0	0	0.193644	0	29	50		
PREX2	80243	broad.mit.edu	37	8	69030877	69030877	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:69030877C>G	ENST00000288368.4	+	27	3696	c.3419C>G	c.(3418-3420)tCa>tGa	p.S1140*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1140					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAAATGGACTCAGGTGTGTTC	0.418																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3418-3420)TCA>TGA		DEP domain containing 2 isoform a							139.0	124.0	129.0					8																	69030877		2203	4300	6503	SO:0001587	stop_gained	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69030877C>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3419C>G	8.37:g.69030877C>G	ENSP00000288368:p.Ser1140*						p.S1140*	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			27	3446	+			1140					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Nonsense_Mutation	SNP	ENST00000288368.4	37	c.3419C>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	45	11.872924	0.99612	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	.	.	.	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.7437	0.91784	0.0:1.0:0.0:0.0	.	.	.	.	X	1140;1145	.	ENSP00000288368:S1140X	S	+	2	0	PREX2	69193431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.439000	0.80444	2.435000	0.82474	0.591000	0.81541	TCA		0.418	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		44	49	0	0	0	0.323286	0	44	49		
UBR5	51366	broad.mit.edu	37	8	103373850	103373850	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:103373850G>C	ENST00000520539.1	-	2	673	c.67C>G	c.(67-69)Cga>Gga	p.R23G	UBR5_ENST00000521922.1_Missense_Mutation_p.R23G|UBR5_ENST00000220959.4_Missense_Mutation_p.R23G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	23					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.R23G(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GAAACTTCTCGTAACCTTTAA	0.264																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	2	Substitution - Missense(2)		breast(1)|endometrium(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(67-69)CGA>GGA		ubiquitin protein ligase E3 component n-recognin							42.0	41.0	41.0					8																	103373850		2199	4289	6488	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103373850G>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.67C>G	8.37:g.103373850G>C	ENSP00000429084:p.Arg23Gly					UBR5_uc003yks.1_Missense_Mutation_p.R23G	p.R23G	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		2	100	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		23					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.67C>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841145	0.51057	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.55930	0.5;0.5;0.49	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000002	T	0.58694	0.2140	L	0.55990	1.75	0.50313	D	0.999864	P;P	0.45768	0.866;0.866	P;P	0.50082	0.63;0.63	T	0.60974	-0.7156	10	0.87932	D	0	.	13.3447	0.60566	0.0:0.0:0.7413:0.2587	.	23;23	E7EMW7;O95071	.;UBR5_HUMAN	G	23	ENSP00000429084:R23G;ENSP00000220959:R23G;ENSP00000427819:R23G	ENSP00000220959:R23G	R	-	1	2	UBR5	103443026	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.882000	0.63121	2.838000	0.97847	0.591000	0.81541	CGA		0.264	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		5	62	0	0	0	0.217242	0	5	62		
EXOSC4	54512	broad.mit.edu	37	8	145134859	145134859	+	Missense_Mutation	SNP	G	G	T	rs557258449	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr8:145134859G>T	ENST00000316052.5	+	2	288	c.185G>T	c.(184-186)cGg>cTg	p.R62L	EXOSC4_ENST00000525936.1_Missense_Mutation_p.R62L|CTD-3065J16.9_ENST00000524499.1_RNA|GPAA1_ENST00000361036.6_5'Flank|GPAA1_ENST00000355091.4_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	62					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGGCTCCCGGGCTCGAGCC	0.612																																						uc003zau.2		NaN																	0					0						c.(184-186)CGG>CTG		exosome component 4							83.0	94.0	90.0					8																	145134859		2203	4300	6503	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145134859G>T	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.185G>T	8.37:g.145134859G>T	ENSP00000315476:p.Arg62Leu					GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	p.R62L	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	295	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		62						Missense_Mutation	SNP	ENST00000316052.5	37	c.185G>T	CCDS6414.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830781	0.91036	.	.	ENSG00000178896	ENST00000316052;ENST00000525936;ENST00000527954	T;T;T	0.64991	-0.03;-0.03;-0.13	5.05	5.05	0.67936	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.86651	2.83	0.58432	D	0.999999	P	0.39424	0.673	B	0.40256	0.324	T	0.72040	-0.4410	10	0.33141	T	0.24	-20.8285	15.8797	0.79195	0.0:0.0:1.0:0.0	.	62	Q9NPD3	EXOS4_HUMAN	L	62;62;85	ENSP00000315476:R62L;ENSP00000432661:R62L;ENSP00000436539:R85L	ENSP00000315476:R62L	R	+	2	0	EXOSC4	145206847	0.998000	0.40836	0.346000	0.25655	0.846000	0.48090	9.141000	0.94612	2.345000	0.79718	0.561000	0.74099	CGG		0.612	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1		NM_019037		34	123	1	0	4.67007e-22	0.268233	5.27265e-22	34	123		
NAA35	60560	broad.mit.edu	37	9	88611429	88611429	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:88611429A>T	ENST00000361671.5	+	12	1126	c.993A>T	c.(991-993)agA>agT	p.R331S		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	331					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ATTTTGCAAGATTAATAGATA	0.353																																						uc004aoi.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(991-993)AGA>AGT		corneal wound healing-related protein							60.0	64.0	63.0					9																	88611429		2203	4298	6501	SO:0001583	missense	60560				smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		g.chr9:88611429A>T	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.993A>T	9.37:g.88611429A>T	ENSP00000354972:p.Arg331Ser					NAA35_uc004aoj.3_Missense_Mutation_p.R331S	p.R331S	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN			12	1130	+			331					Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	c.993A>T	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101694	0.56183	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.18	5.18	0.71444	.	0.181681	0.48767	D	0.000170	T	0.35970	0.0950	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22661	-1.0210	9	0.11485	T	0.65	-18.4065	15.3255	0.74157	1.0:0.0:0.0:0.0	.	331	Q5VZE5	NAA35_HUMAN	S	331	.	ENSP00000354972:R331S	R	+	3	2	NAA35	87801249	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.103000	0.64578	2.094000	0.63399	0.383000	0.25322	AGA		0.353	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1		NM_024635		40	19	0	0	0	0.246493	0	40	19		
GAPVD1	26130	broad.mit.edu	37	9	128113141	128113141	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:128113141G>C	ENST00000495955.1	+	23	3903	c.3613G>C	c.(3613-3615)Gag>Cag	p.E1205Q	GAPVD1_ENST00000394105.2_Missense_Mutation_p.E1214Q|GAPVD1_ENST00000394083.2_Missense_Mutation_p.E1139Q|GAPVD1_ENST00000470056.1_Missense_Mutation_p.E1160Q|GAPVD1_ENST00000265956.4_Missense_Mutation_p.E1179Q|GAPVD1_ENST00000394104.2_Missense_Mutation_p.E1205Q|GAPVD1_ENST00000297933.6_Missense_Mutation_p.E1187Q|GAPVD1_ENST00000312123.9_Missense_Mutation_p.E1166Q			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1205					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTCGATTGCTGAGGACTACAG	0.383																																						uc010mwx.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3613-3615)GAG>CAG		GTPase activating protein and VPS9 domains 1							119.0	115.0	116.0					9																	128113141		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128113141G>C		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3613G>C	9.37:g.128113141G>C	ENSP00000419063:p.Glu1205Gln					GAPVD1_uc004bpp.2_Missense_Mutation_p.E1214Q|GAPVD1_uc004bpq.2_Missense_Mutation_p.E1187Q|GAPVD1_uc004bpr.2_Missense_Mutation_p.E1166Q|GAPVD1_uc004bps.2_Missense_Mutation_p.E1160Q|GAPVD1_uc004bpt.2_Missense_Mutation_p.E220Q	p.E1205Q	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			23	3939	+			1205					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.3613G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.165632	0.94768	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D	0.57257	0.964;0.979;0.979;0.979;0.979;0.962	P;P;P;P;P;P	0.60541	0.755;0.701;0.876;0.876;0.876;0.876	T	0.75499	-0.3296	9	0.56958	D	0.05	.	18.6035	0.91257	0.0:0.0:1.0:0.0	.	1205;220;1160;1166;1187;1214	Q14C86;B3KTX2;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.;.	Q	1160;1214;1205;1179;1139;1205;1187;1166	.	ENSP00000265956:E1179Q	E	+	1	0	GAPVD1	127152962	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.869000	0.99810	2.630000	0.89119	0.555000	0.69702	GAG		0.383	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1				4	82	0	0	0	0.184627	0	4	82		
SLC2A6	11182	broad.mit.edu	37	9	136341379	136341379	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:136341379G>A	ENST00000371899.4	-	4	619	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.S181F	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	181					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GAGGGACAGGGATCCGAACAC	0.647																																						uc004cee.2		NaN																	0					0						c.(541-543)TCC>TTC		solute carrier family 2 (facilitated glucose							96.0	69.0	78.0					9																	136341379		2202	4299	6501	SO:0001583	missense	11182					integral to membrane|plasma membrane	D-glucose transmembrane transporter activity	g.chr9:136341379G>A	AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.542C>T	9.37:g.136341379G>A	ENSP00000360966:p.Ser181Phe					SLC2A6_uc004cef.2_Missense_Mutation_p.S181F|SLC2A6_uc004ceg.2_Missense_Mutation_p.S181F|SLC2A6_uc011mdj.1_Missense_Mutation_p.S181F	p.S181F	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)	4	637	-			181			Helical; Name=5; (Potential).		A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	ENST00000371899.4	37	c.542C>T	CCDS6975.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723503	0.48728	.	.	ENSG00000160326	ENST00000371897;ENST00000371899;ENST00000432868;ENST00000414172	T;T;T	0.73681	-0.77;-0.77;-0.77	4.98	4.98	0.66077	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.320112	0.34245	N	0.004123	T	0.80964	0.4725	L	0.39020	1.185	0.42761	D	0.9938	P;P;D;D	0.89917	0.467;0.467;0.999;1.0	B;B;D;D	0.81914	0.246;0.246;0.965;0.995	T	0.82621	-0.0367	10	0.54805	T	0.06	.	17.2339	0.86992	0.0:0.0:1.0:0.0	.	181;181;181;181	B4DH85;F2Z2F6;Q9UGQ3-2;Q9UGQ3	.;.;.;GTR6_HUMAN	F	181;181;181;108	ENSP00000360964:S181F;ENSP00000360966:S181F;ENSP00000405124:S181F	ENSP00000360964:S181F	S	-	2	0	SLC2A6	135331200	0.994000	0.37717	0.840000	0.33206	0.425000	0.31504	2.103000	0.41806	2.286000	0.76751	0.655000	0.94253	TCC		0.647	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054909.1		NM_017585		4	44	0	0	0	0.150653	0	4	44		
RXRA	6256	broad.mit.edu	37	9	137293588	137293588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr9:137293588C>G	ENST00000481739.1	+	2	191	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	47	Modulating. {ECO:0000250}.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|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)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCCGGGACAGCTGCATTCTCC	0.697																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(139-141)CTG>GTG		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						59.0	62.0	61.0					9																	137293588		2203	4298	6501	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137293588C>G	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.139C>G	9.37:g.137293588C>G	ENSP00000419692:p.Leu47Val					RXRA_uc004cfa.1_Missense_Mutation_p.A97G	p.L47V	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	2	301	+			47			Modulating (By similarity).		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.139C>G	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453608	0.43531	.	.	ENSG00000186350	ENST00000481739	D	0.92495	-3.05	4.21	2.28	0.28536	.	0.978492	0.08370	N	0.956277	D	0.89921	0.6855	L	0.60455	1.87	0.80722	D	1	B	0.23806	0.091	B	0.31101	0.124	T	0.78309	-0.2254	10	0.23302	T	0.38	.	8.9352	0.35695	0.0:0.7672:0.1498:0.0831	.	47	P19793	RXRA_HUMAN	V	47	ENSP00000419692:L47V	ENSP00000419692:L47V	L	+	1	2	RXRA	136433409	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.097000	0.50251	0.382000	0.24878	0.462000	0.41574	CTG		0.697	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		56	28	0	0	0	0.323286	0	56	28		
ARSH	347527	broad.mit.edu	37	X	2928167	2928167	+	Silent	SNP	G	G	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:2928167G>C	ENST00000381130.2	+	2	189	c.189G>C	c.(187-189)ctG>ctC	p.L63L		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	63					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CTGCCTTCCTGACCGGCCGGT	0.502																																						uc011mhj.1		NaN																	0				lung(1)	1						c.(187-189)CTG>CTC		arylsulfatase family, member H							58.0	44.0	49.0					X																	2928167		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2928167G>C	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.189G>C	X.37:g.2928167G>C							p.L63L	NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN			2	189	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	63						Silent	SNP	ENST00000381130.2	37	c.189G>C	CCDS35198.1																																																																																				0.502	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1		NM_001011719		3	19	0	0	0	0.115264	0	3	19		
KDM6A	7403	broad.mit.edu	37	X	44949073	44949073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:44949073C>T	ENST00000377967.4	+	25	3675	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q1219*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q1167*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q1133*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1212	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGGTTTATTCAGCGACCTGG	0.398			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3634-3636)CAG>TAG		ubiquitously transcribed tetratricopeptide							153.0	129.0	137.0					X																	44949073		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949073C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3634C>T	X.37:g.44949073C>T	ENSP00000367203:p.Gln1212*					KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q1264*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q1167*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q1219*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q916*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q851*	p.Q1212*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			25	4009	+			1212			JmjC.		Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.3634C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.524194|8.524194	0.98848|0.98848	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74619	.|0.3740	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74009	.|-0.3802	.|3	0.87932|.	D|.	0|.	-7.8457|-7.8457	18.2517|18.2517	0.90006|0.90006	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	909;1212;1167;1219;1133|809;854	.|.	ENSP00000334340:Q909X|.	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44834017|44834017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.396000|7.396000	0.79891|0.79891	2.249000|2.249000	0.74217|0.74217	0.468000|0.468000	0.43344|0.43344	CAG|TCA		0.398	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		32	6	0	0	0	0.153744	0	32	6		
TFE3	7030	broad.mit.edu	37	X	48895739	48895739	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:48895739A>C	ENST00000315869.7	-	4	1022	c.763T>G	c.(763-765)Tcc>Gcc	p.S255A	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	255					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGAGCTGGACCCGATGGTG	0.587			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	uc004dmb.3		NaN		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	0				soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(763-765)TCC>GCC		transcription factor E3							27.0	28.0	28.0					X																	48895739		2202	4298	6500	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48895739A>C	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.763T>G	X.37:g.48895739A>C	ENSP00000314129:p.Ser255Ala					TFE3_uc004dmc.3_Missense_Mutation_p.S150A|TFE3_uc004dme.1_RNA	p.S255A	NM_006521	NP_006512	P19532	TFE3_HUMAN			4	1001	-			255					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.763T>G	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	A	16.06	3.014902	0.54468	.	.	ENSG00000068323	ENST00000315869	T	0.17054	2.3	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	L	0.56769	1.78	0.50313	D	0.999869	B	0.24618	0.107	B	0.22386	0.039	T	0.01516	-1.1335	10	0.52906	T	0.07	-17.525	13.9288	0.63981	1.0:0.0:0.0:0.0	.	255	P19532	TFE3_HUMAN	A	255	ENSP00000314129:S255A	ENSP00000314129:S255A	S	-	1	0	TFE3	48782683	1.000000	0.71417	0.949000	0.38748	0.984000	0.73092	5.998000	0.70653	1.934000	0.56057	0.417000	0.27973	TCC		0.587	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2		NM_006521		9	19	0	0	0	0.058154	0	9	19		
WNK3	65267	broad.mit.edu	37	X	54321194	54321194	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:54321194T>G	ENST00000375159.2	-	7	1484	c.1485A>C	c.(1483-1485)agA>agC	p.R495S	WNK3_ENST00000375169.3_Missense_Mutation_p.R495S|WNK3_ENST00000354646.2_Missense_Mutation_p.R495S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	495					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCTTCTTCTCTCTTGTCTTCT	0.458																																						uc004dtd.1		NaN																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(1483-1485)AGA>AGC		WNK lysine deficient protein kinase 3 isoform 2							76.0	70.0	72.0					X																	54321194		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54321194T>G	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1485A>C	X.37:g.54321194T>G	ENSP00000364301:p.Arg495Ser					WNK3_uc004dtc.1_Missense_Mutation_p.R495S	p.R495S	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			8	1924	-			495					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.1485A>C	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424612	0.62733	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	D;D;D	0.81908	-1.53;-1.55;-1.55	5.04	1.96	0.26148	.	0.000000	0.64402	D	0.000019	D	0.84019	0.5380	L	0.36672	1.1	0.32788	N	0.501601	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.83898	0.0288	10	0.66056	D	0.02	-10.4438	7.7179	0.28715	0.0:0.4873:0.0:0.5126	.	495;495	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	S	495	ENSP00000364312:R495S;ENSP00000346667:R495S;ENSP00000364301:R495S	ENSP00000346667:R495S	R	-	3	2	WNK3	54337919	0.809000	0.29036	0.986000	0.45419	0.961000	0.63080	-0.052000	0.11865	-0.014000	0.14175	-0.239000	0.12128	AGA		0.458	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2		NM_020922		8	24	0	0	0	0.27861	0	8	24		
VSIG4	11326	broad.mit.edu	37	X	65253367	65253367	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:65253367C>G	ENST00000374737.4	-	2	469	c.361G>C	c.(361-363)Gat>Cat	p.D121H	VSIG4_ENST00000412866.2_Missense_Mutation_p.D121H|VSIG4_ENST00000455586.2_Missense_Mutation_p.D121H	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	121	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTTGCCATCAGGAGTCTGC	0.498																																						uc004dwh.2		NaN																	0					0						c.(361-363)GAT>CAT		V-set and immunoglobulin domain containing 4							140.0	123.0	129.0					X																	65253367		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253367C>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.361G>C	X.37:g.65253367C>G	ENSP00000363869:p.Asp121His					VSIG4_uc004dwi.2_Missense_Mutation_p.D121H|VSIG4_uc010nkq.1_Missense_Mutation_p.D121H|VSIG4_uc004dwj.2_Missense_Mutation_p.D121H|VSIG4_uc011moy.1_Missense_Mutation_p.D121H|VSIG4_uc004dwk.2_Missense_Mutation_p.D121H|VSIG4_uc004dwl.2_Missense_Mutation_p.D17H	p.D121H	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN			2	488	-			121			Ig-like 1.|Extracellular (Potential).		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.361G>C	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.82|10.82	1.458913|1.458913	0.26248|0.26248	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866|ENST00000427538	T;T;T|.	0.32753|.	1.69;1.44;2.08|.	4.89|4.89	2.07|2.07	0.26955|0.26955	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.538685|.	0.17935|.	N|.	0.157056|.	T|.	0.51669|.	0.1688|.	M|M	0.72894|0.72894	2.215|2.215	0.30785|0.30785	N|N	0.741583|0.741583	P;P;P;P;P|.	0.52463|.	0.932;0.946;0.909;0.953;0.89|.	B;P;B;B;P|.	0.46237|.	0.411;0.454;0.243;0.288;0.508|.	T|.	0.53173|.	-0.8476|.	10|.	0.20519|.	T|.	0.43|.	-2.3386|-2.3386	6.6799|6.6799	0.23115|0.23115	0.0:0.678:0.0:0.322|0.0:0.678:0.0:0.322	.|.	121;121;111;121;121|.	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279|.	.;.;.;.;VSIG4_HUMAN|.	H|S	121|47	ENSP00000363869:D121H;ENSP00000411581:D121H;ENSP00000394143:D121H|.	ENSP00000363869:D121H|.	D|X	-|-	1|2	0|2	VSIG4|VSIG4	65170092|65170092	0.462000|0.462000	0.25791|0.25791	0.956000|0.956000	0.39512|0.39512	0.041000|0.041000	0.13682|0.13682	0.137000|0.137000	0.15995|0.15995	0.001000|0.001000	0.14605|0.14605	0.600000|0.600000	0.82982|0.82982	GAT|TGA		0.498	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1		NM_007268		13	115	0	0	0	0.132662	0	13	115		
STAG2	10735	broad.mit.edu	37	X	123200110	123200110	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chrX:123200110C>T	ENST00000371160.1	+	22	2472	c.2182C>T	c.(2182-2184)Cag>Tag	p.Q728*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q659*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q728*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q728*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q728*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q728*|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	728					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATGCCTGAGCAGGTTTTTAT	0.303																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(2182-2184)CAG>TAG		stromal antigen 2 isoform b							94.0	98.0	97.0					X																	123200110		2201	4300	6501	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123200110C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2182C>T	X.37:g.123200110C>T	ENSP00000360202:p.Gln728*					STAG2_uc004eua.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q728*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q728*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q728*	p.Q728*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			21	2521	+			728					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.2182C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	43	9.980392	0.99309	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-8.7887	18.992	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	X	728;659;728;728;728;728	.	ENSP00000218089:Q728X	Q	+	1	0	STAG2	123027791	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.787000	0.75099	2.433000	0.82419	0.600000	0.82982	CAG		0.303	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		60	17	0	0	0	0.323286	0	60	17		
DHX9	1660	broad.mit.edu	37	1	182849629	182849630	+	Intron	INS	-	-	A			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr1:182849629_182849630insA	ENST00000367549.3	+	22	2622				DHX9_ENST00000485081.1_Intron	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9						ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATCTCCCCACAGAGCTTGATG	0.396																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NaN																	0				ovary(2)	2						c.e22-2		DEAH (Asp-Glu-Ala-His) box polypeptide 9																																				SO:0001627	intron_variant	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182849629_182849630insA	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2513-2->A	1.37:g.182849630_182849630dupA						DHX9_uc001gps.2_Splice_Site_p.E624_splice|DHX9_uc001gpt.2_Splice_Site_p.E117_splice|DHX9_uc009wyd.2_5'Flank	p.E838_splice	NM_001357	NP_001348	Q08211	DHX9_HUMAN			22	2676	+								B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Splice_Site	INS	ENST00000367549.3	37	c.2513_splice	CCDS41444.1																																																																																				0.396	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588		13	61	NaN	NaN	NaN	NaN	NaN	13	61	---	---
PIDD1	55367	broad.mit.edu	37	11	802398	802401	+	Splice_Site	DEL	TGAG	TGAG	-	rs199530748		TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:802398_802401delTGAG	ENST00000347755.5	-	6	1116		c.e6-2		PIDD_ENST00000411829.2_Splice_Site|PIDD_ENST00000534649.1_5'Flank	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					ACAGGAAAGCTGAGTGAGGAAGGA	0.632																																						uc001lro.1		NaN																	0					0						c.e6-1		leucine rich repeat and death domain containing																																				SO:0001630	splice_region_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:802398_802401delTGAG																												ENST00000347755.5:c.975-2CTCA>-	11.37:g.802402_802405delTGAG						LRDD_uc009yck.1_Splice_Site|LRDD_uc001lrk.1_Splice_Site_p.S325_splice|LRDD_uc001lrl.1_Splice_Site_p.S179_splice|LRDD_uc001lrm.1_Splice_Site_p.S12_splice|LRDD_uc001lrn.1_Splice_Site_p.S179_splice|LRDD_uc001lrp.1_Splice_Site	p.S325_splice	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	1117	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)							Splice_Site	DEL	ENST00000347755.5	37	c.975_splice	CCDS7716.1																																																																																				0.632	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			Intron	14	46	NaN	NaN	NaN	NaN	NaN	14	46	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					uc009ylv.2		NaN																	3	Deletion - In frame(3)		prostate(1)|breast(1)|central_nervous_system(1)	ovary(1)	1						c.(172-177)ACCACCdel		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_uc001ngj.2_5'UTR|FNBP4_uc001ngl.2_RNA	p.TT58del	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			1	325_330	-			58_59					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3				3	3	NaN	NaN	NaN	NaN	NaN	3	3	---	---
KMT2D	8085	broad.mit.edu	37	12	49415856	49415858	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08			GAT	-	GAT	GAT		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr12:49415856_49415858delGAT	ENST00000301067.7	-	53	16488_16490	c.16489_16491delATC	c.(16489-16491)atcdel	p.I5497del	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000552933.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5497	Poly-Ile.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				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)										GCCGGCTGGAGATGATGATGATT	0.527																																						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.(16489-16491)ATCdel		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001651	inframe_deletion	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.chr12:49415856_49415858delGAT	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.16489_16491delATC	12.37:g.49415865_49415867delGAT	ENSP00000301067:p.Ile5497del	HNSCC(34;0.089)					p.I5497del	NM_003482	NP_003473	O14686	MLL2_HUMAN			53	16489_16491	-			5497			Poly-Ile.|SET.		O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.16489_16491delATC	CCDS44873.1																																																																																				0.527	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				177	79	NaN	NaN	NaN	NaN	NaN	177	79	---	---
MOV10L1	54456	broad.mit.edu	37	22	50553619	50553620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr22:50553619_50553620insG	ENST00000262794.5	+	8	1286_1287	c.1203_1204insG	c.(1204-1206)gggfs	p.G402fs	MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.G382fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.G402fs|MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.G402fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	402					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCTGAGCCTGGGGGGCTTGT	0.46																																						uc003bjj.2		NaN																	0				ovary(2)|skin(1)	3						c.(1201-1206)CCTGGGfs		MOV10-like 1 isoform 1																																				SO:0001589	frameshift_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50553619_50553620insG	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1209dupG	22.37:g.50553625_50553625dupG	ENSP00000262794:p.Gly402fs					MOV10L1_uc003bjk.3_Frame_Shift_Ins_p.P401fs|MOV10L1_uc011arp.1_Frame_Shift_Ins_p.P381fs|MOV10L1_uc011arq.1_Frame_Shift_Ins_p.P162fs|MOV10L1_uc010hao.1_RNA	p.P401fs	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	8	1286_1287	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	401_402					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Frame_Shift_Ins	INS	ENST00000262794.5	37	c.1203_1204insG	CCDS14084.1																																																																																				0.460	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2		NM_018995		74	95	NaN	NaN	NaN	NaN	NaN	74	95	---	---
PRRC1	133619	broad.mit.edu	37	5	126883526	126883529	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr5:126883526_126883529delTTGT	ENST00000296666.8	+	8	1229_1232	c.1041_1044delTTGT	c.(1039-1044)ggttgtfs	p.GC347fs	PRRC1_ENST00000513427.1_3'UTR|PRRC1_ENST00000512635.2_Frame_Shift_Del_p.GC347fs|PRRC1_ENST00000442138.2_Frame_Shift_Del_p.GC347fs	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	347						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		TTGACATTGGTTGTTTGGTGGTTG	0.358																																						uc003kuk.2		NaN																	0					0						c.(1039-1044)GGTTGTfs		proline-rich coiled-coil 1																																				SO:0001589	frameshift_variant	133619					Golgi apparatus		g.chr5:126883526_126883529delTTGT	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.1041_1044delTTGT	5.37:g.126883526_126883529delTTGT	ENSP00000296666:p.Gly347fs					PRRC1_uc003kuj.3_Frame_Shift_Del_p.G347fs	p.G347fs	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	8	1221_1224	+		Prostate(80;0.165)	347_348					Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Frame_Shift_Del	DEL	ENST00000296666.8	37	c.1041_1044delTTGT	CCDS4143.1																																																																																				0.358	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3		NM_130809		36	62	NaN	NaN	NaN	NaN	NaN	36	62	---	---
TRERF1	55809	broad.mit.edu	37	6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC	rs146190272|rs373986015|rs111816381	byFrequency	TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:42204105_42204106insTCC	ENST00000372922.4	-	16	3465_3466	c.2903_2904insGGA	c.(2902-2904)gac>gaGGAc	p.967_968insE	TRERF1_ENST00000340840.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000354325.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000372917.4_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000541110.1_In_Frame_Ins_p.987_988insE	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	967	Glu-rich.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.53														199	0.0397364	0.1392	0.0187	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.002					uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(2902-2904)GAC>GAGGAC		transcriptional regulating factor 1																																				SO:0001652	inframe_insertion	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42204105_42204106insTCC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2901_2903dupGGA	6.37:g.42204112_42204114dupTCC	ENSP00000362013:p.Glu967_Glu967dup					TRERF1_uc011duq.1_In_Frame_Ins_p.884_885insE|TRERF1_uc003osb.2_In_Frame_Ins_p.723_724insE|TRERF1_uc003osc.2_In_Frame_Ins_p.723_724insE|TRERF1_uc003ose.2_In_Frame_Ins_p.987_988insE	p.967_968insE	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		16	3466_3467	-	Colorectal(47;0.196)		967_968			Interacts with CREBBP.|Glu-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	In_Frame_Ins	INS	ENST00000372922.4	37	c.2903_2904insGGA	CCDS4867.1																																																																																				0.530	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		3	5	NaN	NaN	NaN	NaN	NaN	3	5	---	---
PTPRK	5796	broad.mit.edu	37	6	128540172	128540173	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:128540172_128540173delAG	ENST00000368215.3	-	6	761_762	c.762_763delCT	c.(760-765)tccttcfs	p.F255fs	PTPRK_ENST00000368227.3_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368210.3_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368226.4_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368213.5_Frame_Shift_Del_p.F255fs|PTPRK_ENST00000368207.3_Frame_Shift_Del_p.F255fs			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	255	Ig-like C2-type.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGCAATCTGAAGGAAGCGGCAA	0.411																																						uc003qbk.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(760-765)TCCTTCfs		protein tyrosine phosphatase, receptor type, K																																				SO:0001589	frameshift_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128540172_128540173delAG	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.762_763delCT	6.37:g.128540172_128540173delAG	ENSP00000357198:p.Phe255fs					PTPRK_uc003qbj.2_Frame_Shift_Del_p.S254fs|PTPRK_uc010kfc.2_Frame_Shift_Del_p.S254fs|PTPRK_uc011ebu.1_Frame_Shift_Del_p.S254fs|PTPRK_uc003qbl.1_Frame_Shift_Del_p.S124fs|PTPRK_uc011ebv.1_Frame_Shift_Del_p.S254fs	p.S254fs	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	6	1129_1130	-			254_255			Extracellular (Potential).|Ig-like C2-type.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Frame_Shift_Del	DEL	ENST00000368215.3	37	c.762_763delCT																																																																																					0.411	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1				15	107	NaN	NaN	NaN	NaN	NaN	15	107	---	---
ARID1B	57492	broad.mit.edu	37	6	157099403	157099405	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3B5-01A-11D-A20D-08	TCGA-FD-A3B5-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d05f9b81-7ba9-4231-aae6-1d2c14df22d7	794d21de-faa1-497d-934a-49be110c1f4a	g.chr6:157099403_157099405delCAG	ENST00000350026.5	+	1	341_343	c.340_342delCAG	c.(340-342)cagdel	p.Q131del	ARID1B_ENST00000346085.5_In_Frame_Del_p.Q131del|ARID1B_ENST00000275248.4_In_Frame_Del_p.Q73del|ARID1B_ENST00000367148.1_In_Frame_Del_p.Q131del|MIR4466_ENST00000606121.1_RNA|RP11-230C9.3_ENST00000604792.1_RNA|RP11-230C9.2_ENST00000603191.1_lincRNA	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	131	Gln-rich.|Poly-Gln.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AAACCAGTTCcagcagcagcagc	0.64																																						uc003qqn.2		NaN																	0				ovary(1)|breast(1)	2						c.(166-168)CAGdel		AT rich interactive domain 1B (SWI1-like)			,	105,53,105,2485		24,0,5,52,7,0,39,21,58,1168					,	2.3	1.0			9	30,100,26,5174		8,0,0,14,16,0,68,8,10,2541	no	codingComplex,codingComplex	ARID1B	NM_020732.3,NM_017519.2	,	32,0,5,66,23,0,107,29,68,3709	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.9268,9.5706,5.1869	,	,		135,153,131,7659				SO:0001651	inframe_deletion	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157099403_157099405delCAG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.340_342delCAG	6.37:g.157099412_157099414delCAG	ENSP00000055163:p.Gln131del					ARID1B_uc003qqo.2_In_Frame_Del_p.Q73del|ARID1B_uc003qqp.2_In_Frame_Del_p.Q73del	p.Q73del	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	1	318_320	+		Breast(66;0.000162)|Ovarian(120;0.0265)	131			Gln-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Del	DEL	ENST00000350026.5	37	c.166_168delCAG	CCDS5251.2																																																																																				0.640	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
