#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
PANK4	55229	broad.mit.edu	37	1	2440291	2440291	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:2440291C>T	ENST00000378466.3	-	19	2329	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	PANK4_ENST00000435556.3_Missense_Mutation_p.E734K	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	773					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GCGCCTCACTCGGCTGGGACC	0.567																																						uc001ajm.1		NaN																	0				upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3						c.(2317-2319)GAG>AAG		pantothenate kinase 4							18.0	22.0	21.0					1																	2440291		2190	4293	6483	SO:0001583	missense	55229				coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	g.chr1:2440291C>T	AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.2317G>A	1.37:g.2440291C>T	ENSP00000367727:p.Glu773Lys					PANK4_uc010nza.1_Missense_Mutation_p.E734K	p.E773K	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	19	2326	-	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	773					B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	ENST00000378466.3	37	c.2317G>A	CCDS42.1	.	.	.	.	.	.	.	.	.	.	C	8.307	0.821235	0.16678	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.96856	-4.15;-3.87	5.27	-6.46	0.01908	.	1.121610	0.06647	N	0.762030	T	0.79701	0.4491	N	0.00583	-1.355	0.09310	N	0.999999	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.77897	-0.2416	10	0.08837	T	0.75	.	4.158	0.10270	0.1059:0.1108:0.4763:0.307	.	734;773	E9PHT6;Q9NVE7	.;PANK4_HUMAN	K	773;734	ENSP00000367727:E773K;ENSP00000421433:E734K	ENSP00000367727:E773K	E	-	1	0	PANK4	2430151	0.279000	0.24239	0.002000	0.10522	0.324000	0.28378	0.056000	0.14256	-0.638000	0.05509	0.556000	0.70494	GAG		0.567	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002082.1				23	18	0	0	0	0.00632	0	23	18		
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:24419480C>T	ENST00000374434.3	-	10	1209	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.S350S|MYOM3_ENST00000329601.7_Silent_p.S349S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	349	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.647																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(1045-1047)TCG>TCA		myomesin family, member 3							29.0	34.0	32.0					1																	24419480		1985	4139	6124	SO:0001819	synonymous_variant	127294							g.chr1:24419480C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1047G>A	1.37:g.24419480C>T						MYOM3_uc001bim.3_Silent_p.S6S|MYOM3_uc001bio.2_Silent_p.S349S|MYOM3_uc001bip.1_Silent_p.S6S	p.S349S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	10	1210	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	349			Ig-like C2-type 2.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.1047G>A	CCDS41281.1																																																																																				0.647	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		25	22	0	0	0	0.01892	0	25	22		
GPN2	54707	broad.mit.edu	37	1	27210712	27210712	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:27210712C>G	ENST00000374135.4	-	4	999	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374133.3_Missense_Mutation_p.E88Q	NM_018066.3	NP_060536.3			GPN-loop GTPase 2											endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						CTTCGCTGCTCTTGGGCTCTG	0.537																																						uc001bnd.1		NaN																	0					0						c.(799-801)GAG>CAG		ATP binding domain 1 family, member B							90.0	77.0	82.0					1																	27210712		2203	4300	6503	SO:0001583	missense	54707						GTP binding	g.chr1:27210712C>G	AK001211	CCDS289.1	1p36.11	2008-04-30	2008-04-30	2008-04-30	ENSG00000142751	ENSG00000142751		"""GPN-loop GTPases"""	25513	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member B"""	ATPBD1B		12975309	Standard	NM_018066		Approved	FLJ10349	uc001bnd.1	Q9H9Y4	OTTHUMG00000004227	ENST00000374135.4:c.799G>C	1.37:g.27210712C>G	ENSP00000363250:p.Glu267Gln						p.E267Q	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN			4	1081	-			267						Missense_Mutation	SNP	ENST00000374135.4	37	c.799G>C	CCDS289.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412770	0.83340	.	.	ENSG00000142751	ENST00000374135;ENST00000374133	T;T	0.29917	2.05;1.55	5.41	5.41	0.78517	.	0.052266	0.85682	D	0.000000	T	0.16896	0.0406	N	0.08118	0	0.50467	D	0.999878	P	0.42785	0.79	B	0.38327	0.271	T	0.05131	-1.0904	10	0.56958	D	0.05	-28.3688	12.2158	0.54406	0.0:0.9208:0.0:0.0792	.	267	Q9H9Y4	GPN2_HUMAN	Q	267;88	ENSP00000363250:E267Q;ENSP00000363248:E88Q	ENSP00000363248:E88Q	E	-	1	0	GPN2	27083299	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.782000	0.68973	2.536000	0.85505	0.491000	0.48974	GAG		0.537	GPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012175.2		NM_018066		29	34	0	0	0	0.00632	0	29	34		
EBNA1BP2	10969	broad.mit.edu	37	1	43630462	43630462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:43630462C>T	ENST00000236051.2	-	8	863	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	EBNA1BP2_ENST00000431635.2_Missense_Mutation_p.R296Q	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	241					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTATACCGTCGTTTAGCACT	0.468																																						uc001cin.2		NaN																	0					0						c.(721-723)CGA>CAA		EBNA1 binding protein 2 isoform 2							72.0	69.0	70.0					1																	43630462		2203	4300	6503	SO:0001583	missense	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43630462C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.722G>A	1.37:g.43630462C>T	ENSP00000236051:p.Arg241Gln					EBNA1BP2_uc001cio.2_Missense_Mutation_p.R296Q|EBNA1BP2_uc001cim.2_Missense_Mutation_p.R136Q|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.R296Q	p.R241Q	NM_006824	NP_006815	Q99848	EBP2_HUMAN			8	919	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	241					Q96A66	Missense_Mutation	SNP	ENST00000236051.2	37	c.722G>A	CCDS478.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472734	0.84640	.	.	ENSG00000117395	ENST00000431635;ENST00000236051	T;T	0.75367	-0.93;-0.93	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	M	0.90425	3.115	0.80722	D	1	P;P	0.46912	0.886;0.886	B;B	0.40410	0.328;0.328	D	0.85637	0.1274	10	0.56958	D	0.05	-2.4126	18.6795	0.91541	0.0:1.0:0.0:0.0	.	241;241	Q6IB29;Q99848	.;EBP2_HUMAN	Q	296;241	ENSP00000407323:R296Q;ENSP00000236051:R241Q	ENSP00000236051:R241Q	R	-	2	0	EBNA1BP2	43403049	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.395000	0.79876	2.418000	0.82041	0.289000	0.19496	CGA		0.468	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1				17	100	0	0	0	0.00499	0	17	100		
NBPF8	728841	broad.mit.edu	37	1	144220807	144220807	+	Missense_Mutation	SNP	A	A	C	rs375759831		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:144220807A>C	ENST00000369373.5	+	2	74	c.74A>C	c.(73-75)gAt>gCt	p.D25A				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	665						cytoplasm (GO:0005737)											GAGCTGCTGGATGAGAAAGAG	0.483																																						uc010oxr.1		NaN																	0					0						c.(2179-2181)GAT>GCT		hypothetical protein LOC400818																																				SO:0001583	missense	400818					cytoplasm		g.chr1:144220807A>C	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.74A>C	1.37:g.144220807A>C	ENSP00000358380:p.Asp25Ala					NBPF9_uc010oxn.1_Missense_Mutation_p.D598A|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.D515A|NBPF9_uc001ekg.1_Missense_Mutation_p.D27A|NBPF9_uc001ekk.1_Missense_Mutation_p.D271A|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.D27A|uc010oxz.1_Missense_Mutation_p.D515A	p.D727A	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			19	2184	+			700			NBPF 5.			Missense_Mutation	SNP	ENST00000369373.5	37	c.2180A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	7.405|7.405	0.633647|0.633647	0.14322|0.14322	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.07021|.	3.23|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	0.80722|.	D|.	1.000000|.	P;.;B;B|.	0.52842|.	0.956;.;0.04;0.002|.	P;.;B;B|.	0.57502|.	0.822;.;0.074;0.015|.	T|.	0.29610|.	-1.0006|.	4|.	0.33940|.	T|.	0.23|.	.|.	.|.	.|.	.|.	.|.	431;598;373;440|.	Q5VTG8;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.|.	A|L	25|3576	ENSP00000358380:D25A|.	ENSP00000358380:D25A|.	D|M	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932164|142932164	0.533000|0.533000	0.26354|0.26354	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAT|ATG		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding					21	120	0	0	0	0.021523	0	21	120		
C1orf54	79630	broad.mit.edu	37	1	150248969	150248969	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:150248969A>G	ENST00000369102.1	+	6	999	c.229A>G	c.(229-231)Acc>Gcc	p.T77A	C1orf54_ENST00000369098.3_Missense_Mutation_p.T77A|C1orf54_ENST00000369099.3_Missense_Mutation_p.T77A			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	77						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATAGAGACTACCATTAGTCT	0.453																																						uc001eud.2		NaN																	0					0						c.(229-231)ACC>GCC		hypothetical protein LOC79630 precursor							147.0	123.0	131.0					1																	150248969		2203	4300	6503	SO:0001583	missense	79630					extracellular region		g.chr1:150248969A>G	BC017761	CCDS948.1, CCDS72905.1	1q21.2	2012-06-25			ENSG00000118292	ENSG00000118292			26258	protein-coding gene	gene with protein product						12477932	Standard	NM_024579		Approved	FLJ23221	uc001eud.3	Q8WWF1	OTTHUMG00000012546	ENST00000369102.1:c.229A>G	1.37:g.150248969A>G	ENSP00000358098:p.Thr77Ala					C1orf54_uc001euc.2_Missense_Mutation_p.T77A|C1orf54_uc001eue.2_Missense_Mutation_p.T77A|C1orf54_uc001euf.2_Missense_Mutation_p.T77A|C1orf54_uc001eug.2_Missense_Mutation_p.T77A	p.T77A	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	267	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		77					Q9H5P3	Missense_Mutation	SNP	ENST00000369102.1	37	c.229A>G	CCDS948.1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878642	0.33162	.	.	ENSG00000118292	ENST00000369102;ENST00000369099;ENST00000369098	.	.	.	4.52	4.52	0.55395	.	0.670897	0.13205	N	0.405627	T	0.21761	0.0524	L	0.48642	1.525	0.09310	N	1	P;P	0.40180	0.705;0.705	B;B	0.38264	0.269;0.269	T	0.09164	-1.0687	9	0.62326	D	0.03	-2.1001	10.4548	0.44544	1.0:0.0:0.0:0.0	.	77;77	Q5TB16;Q8WWF1	.;CA054_HUMAN	A	77	.	ENSP00000358094:T77A	T	+	1	0	C1orf54	148515593	0.173000	0.23056	0.071000	0.20095	0.101000	0.19017	3.794000	0.55492	2.033000	0.60031	0.451000	0.29950	ACC		0.453	C1orf54-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035055.1		NM_024579		39	57	0	0	0	0.007835	0	39	57		
RORC	6097	broad.mit.edu	37	1	151785462	151785462	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:151785462C>T	ENST00000318247.6	-	9	1353	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	RORC_ENST00000392697.3_Missense_Mutation_p.E470K|RORC_ENST00000356728.6_Missense_Mutation_p.E395K|RORC_ENST00000480719.1_5'UTR	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	416	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGCAATCTCATCCTCGGAA	0.517																																						uc001ezh.2		NaN																	0				ovary(1)|skin(1)	2						c.(1246-1248)GAG>AAG		RAR-related orphan receptor C isoform a							100.0	85.0	90.0					1																	151785462		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151785462C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1246G>A	1.37:g.151785462C>T	ENSP00000327025:p.Glu416Lys					RORC_uc001ezg.2_Missense_Mutation_p.E395K|RORC_uc010pdo.1_Missense_Mutation_p.E470K|RORC_uc010pdp.1_Missense_Mutation_p.E404K	p.E416K	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		9	1354	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		416			Ligand-binding.		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.1246G>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	34	5.392648	0.96009	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.99329	-5.75;-5.75;-5.75	4.95	4.95	0.65309	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.087755	0.46758	U	0.000271	D	0.99518	0.9828	M	0.89840	3.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.98404	1.0569	10	0.87932	D	0	.	17.1018	0.86652	0.0:1.0:0.0:0.0	.	404;470;416;395	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	K	395;470;416	ENSP00000349164:E395K;ENSP00000376461:E470K;ENSP00000327025:E416K	ENSP00000327025:E416K	E	-	1	0	RORC	150052086	1.000000	0.71417	0.991000	0.47740	0.921000	0.55340	7.764000	0.85297	2.447000	0.82792	0.655000	0.94253	GAG		0.517	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1				28	50	0	0	0	0.00632	0	28	50		
RUSC1	23623	broad.mit.edu	37	1	155292628	155292628	+	Missense_Mutation	SNP	C	C	T	rs199994966	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:155292628C>T	ENST00000368352.5	+	2	1215	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.S355L|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368347.4_5'Flank|RUSC1_ENST00000368349.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	355					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.S355*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTCCCCCCCTCGGGGTCGCCG	0.701													C|||	2	0.000399361	0.0	0.0	5008	,	,		10170	0.0		0.002	False		,,,				2504	0.0					uc001fkj.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1063-1065)TCG>TTG		RUN and SH3 domain containing 1 isoform a							16.0	19.0	18.0					1																	155292628		1790	4040	5830	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292628C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.1064C>T	1.37:g.155292628C>T	ENSP00000357336:p.Ser355Leu					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.S355L|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank|RUSC1_uc001fks.2_5'Flank	p.S355L	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	1293	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		355					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.1064C>T	CCDS41410.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	8.433	0.849100	0.17034	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.55234	0.53;0.53	4.25	-0.394	0.12434	.	1.726370	0.03446	N	0.209944	T	0.17450	0.0419	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28459	-1.0043	10	0.87932	D	0	-0.0218	6.1513	0.20313	0.0:0.3008:0.4987:0.2005	.	355	Q9BVN2	RUSC1_HUMAN	L	355	ENSP00000357338:S355L;ENSP00000357336:S355L	ENSP00000357336:S355L	S	+	2	0	RUSC1	153559252	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	0.635000	0.24629	0.068000	0.16574	0.485000	0.47835	TCG		0.701	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1				52	47	0	0	0	0.01441	0	52	47		
TMCC2	9911	broad.mit.edu	37	1	205240950	205240950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:205240950G>T	ENST00000358024.3	+	5	2217	c.1828G>T	c.(1828-1830)Gag>Tag	p.E610*	TMCC2_ENST00000330675.7_Nonsense_Mutation_p.E385*|TMCC2_ENST00000545499.1_Nonsense_Mutation_p.E532*|TMCC2_ENST00000329800.7_Nonsense_Mutation_p.E370*|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	610						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGGCCGTGGAGTCCTGCCT	0.647																																						uc001hbz.1		NaN																	0				pancreas(1)	1						c.(1828-1830)GAG>TAG		transmembrane and coiled-coil domain family 2							46.0	47.0	47.0					1																	205240950		2203	4300	6503	SO:0001587	stop_gained	9911					integral to membrane	protein binding	g.chr1:205240950G>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1828G>T	1.37:g.205240950G>T	ENSP00000350718:p.Glu610*					TMCC2_uc010prf.1_Nonsense_Mutation_p.E532*|TMCC2_uc001hca.2_Nonsense_Mutation_p.E385*|TMCC2_uc001hcb.1_Nonsense_Mutation_p.E370*|TMCC2_uc001hcc.1_Nonsense_Mutation_p.E231*|TMCC2_uc001hcd.2_3'UTR	p.E610*	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		6	2272	+	Breast(84;0.0871)		610			Potential.		A2RRH3|B7Z1P7|Q6ZN09	Nonsense_Mutation	SNP	ENST00000358024.3	37	c.1828G>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	38	6.912581	0.97928	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	.	.	.	5.43	4.51	0.55191	.	0.050067	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.1532	0.65401	0.0725:0.0:0.9275:0.0	.	.	.	.	X	610;532;385;370	.	ENSP00000329436:E370X	E	+	1	0	TMCC2	203507573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	1.526000	0.49068	0.655000	0.94253	GAG		0.647	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1		NM_014858		80	94	1	0	7.81431e-29	0.01441	8.2185e-29	80	94		
LYST	1130	broad.mit.edu	37	1	235966211	235966211	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:235966211C>T	ENST00000389794.3	-	8	3883	c.3709G>A	c.(3709-3711)Gat>Aat	p.D1237N	LYST_ENST00000389793.2_Missense_Mutation_p.D1237N|LYST_ENST00000536965.1_Missense_Mutation_p.D1237N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1237					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)			ATTTTACCATCATCCTGGGTT	0.348																																						uc001hxj.2		NaN																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(3709-3711)GAT>AAT		lysosomal trafficking regulator							108.0	94.0	99.0					1																	235966211		2203	4300	6503	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.chr1:235966211C>T	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.3709G>A	1.37:g.235966211C>T	ENSP00000374444:p.Asp1237Asn					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.D1237N	p.D1237N	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		8	3884	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1237					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.3709G>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149340	0.57151	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.62105	0.05;0.05;1.23	5.2	5.2	0.72013	.	0.327649	0.34750	N	0.003718	T	0.60534	0.2276	L	0.36672	1.1	0.34663	D	0.722896	P;P	0.47545	0.897;0.698	P;B	0.49853	0.624;0.076	T	0.72633	-0.4234	10	0.62326	D	0.03	.	12.1347	0.53964	0.0:0.9213:0.0:0.0787	.	1237;1237	Q99698-3;Q99698	.;LYST_HUMAN	N	1237	ENSP00000374444:D1237N;ENSP00000374443:D1237N;ENSP00000438315:D1237N	ENSP00000374443:D1237N	D	-	1	0	LYST	234032834	1.000000	0.71417	0.967000	0.41034	0.483000	0.33249	2.829000	0.48128	2.452000	0.82932	0.655000	0.94253	GAT		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				4	35	0	0	0	0.014758	0	4	35		
AHCTF1	25909	broad.mit.edu	37	1	247057966	247057966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:247057966C>G	ENST00000391829.2	-	14	1922	c.1799G>C	c.(1798-1800)aGa>aCa	p.R600T	AHCTF1_ENST00000326225.3_Missense_Mutation_p.R609T|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R635T|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	600	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTACATAGTCTGTCAAATTC	0.303																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NaN																	0				ovary(5)|skin(2)	7						c.(1798-1800)AGA>ACA		transcription factor ELYS							67.0	65.0	66.0					1																	247057966		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247057966C>G		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1799G>C	1.37:g.247057966C>G	ENSP00000375705:p.Arg600Thr					AHCTF1_uc001ibv.1_Missense_Mutation_p.R609T|AHCTF1_uc009xgs.1_5'UTR	p.R600T	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		13	1806	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	600			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.1799G>C		.	.	.	.	.	.	.	.	.	.	C	13.53	2.266181	0.40095	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32988	1.43;1.44;1.44	5.4	3.53	0.40419	.	0.191926	0.45867	D	0.000339	T	0.23370	0.0565	N	0.19112	0.55	0.29968	N	0.818796	P;P	0.46142	0.873;0.651	P;B	0.47346	0.544;0.15	T	0.05321	-1.0892	10	0.30078	T	0.28	-10.8653	9.6845	0.40089	0.0:0.77:0.0:0.23	.	635;600	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	T	635;609;600	ENSP00000355464:R635T;ENSP00000355465:R609T;ENSP00000375705:R600T	ENSP00000355465:R609T	R	-	2	0	AHCTF1	245124589	1.000000	0.71417	0.986000	0.45419	0.798000	0.45092	2.871000	0.48459	1.276000	0.44395	-0.142000	0.14014	AGA		0.303	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015446		21	22	0	0	0	0.021523	0	21	22		
KIAA1217	56243	broad.mit.edu	37	10	24810779	24810779	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:24810779C>T	ENST00000376454.3	+	12	2407	c.2377C>T	c.(2377-2379)Ctg>Ttg	p.L793L	KIAA1217_ENST00000458595.1_Silent_p.L758L|KIAA1217_ENST00000396446.1_Silent_p.L476L|KIAA1217_ENST00000376452.3_Silent_p.L758L|KIAA1217_ENST00000307544.6_Silent_p.L476L|KIAA1217_ENST00000376462.1_Silent_p.L713L|KIAA1217_ENST00000396445.1_Silent_p.L476L|KIAA1217_ENST00000376451.2_Silent_p.L476L|KIAA1217_ENST00000430453.2_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	793					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGTGCGGTTTCTGAAGGAGGA	0.577																																						uc001iru.3		NaN																	0				ovary(5)|skin(2)	7						c.(2377-2379)CTG>TTG		sickle tail isoform 1							73.0	71.0	72.0					10																	24810779		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24810779C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2377C>T	10.37:g.24810779C>T						KIAA1217_uc001irs.2_Silent_p.L713L|KIAA1217_uc001irt.3_Silent_p.L758L|KIAA1217_uc010qcy.1_Silent_p.L758L|KIAA1217_uc010qcz.1_Silent_p.L758L|KIAA1217_uc001irv.1_Silent_p.L608L|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Silent_p.L476L|KIAA1217_uc001irz.2_Silent_p.L476L|KIAA1217_uc001irx.2_Silent_p.L476L|KIAA1217_uc001iry.2_Silent_p.L476L	p.L793L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			12	2780	+			793					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.2377C>T	CCDS31165.1																																																																																				0.577	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590		39	62	0	0	0	0.013114	0	39	62		
PTCHD3	374308	broad.mit.edu	37	10	27702774	27702774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:27702774C>T	ENST00000438700.3	-	1	523	c.406G>A	c.(406-408)Gcg>Acg	p.A136T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	136					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGGGGTGCGCGCCCACCTGC	0.667																																						uc001itu.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(406-408)GCG>ACG		patched domain containing 3							27.0	31.0	30.0					10																	27702774		2203	4299	6502	SO:0001583	missense	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702774C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.406G>A	10.37:g.27702774C>T	ENSP00000417658:p.Ala136Thr						p.A136T	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	524	-			136					I3L499|Q6ZU28	Missense_Mutation	SNP	ENST00000438700.3	37	c.406G>A	CCDS31173.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798795	0.31777	.	.	ENSG00000182077	ENST00000438700	D	0.87334	-2.24	4.01	-2.47	0.06442	.	2.959320	0.01282	N	0.009773	T	0.77785	0.4182	L	0.36672	1.1	0.19945	N	0.99994	B	0.26195	0.144	B	0.14023	0.01	T	0.65656	-0.6115	10	0.02654	T	1	-0.2012	9.3426	0.38089	0.313:0.579:0.0:0.1081	.	136	Q3KNS1	PTHD3_HUMAN	T	136	ENSP00000417658:A136T	ENSP00000417658:A136T	A	-	1	0	PTCHD3	27742780	0.014000	0.17966	0.709000	0.30452	0.880000	0.50808	-0.478000	0.06575	-0.185000	0.10550	0.555000	0.69702	GCG		0.667	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3		XM_370541		56	56	0	0	0	0.01441	0	56	56		
PDZD8	118987	broad.mit.edu	37	10	119043793	119043793	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:119043793C>A	ENST00000334464.5	-	5	2690	c.2451G>T	c.(2449-2451)ttG>ttT	p.L817F	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	817					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTTCTTCAACCAAATGGGGTT	0.368																																						uc001lde.1		NaN																	0					0						c.(2449-2451)TTG>TTT		PDZ domain containing 8							48.0	49.0	49.0					10																	119043793		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043793C>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2451G>T	10.37:g.119043793C>A	ENSP00000334642:p.Leu817Phe						p.L817F	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2650	-		Colorectal(252;0.19)	817					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2451G>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.437661	0.01098	.	.	ENSG00000165650	ENST00000334464	D	0.86694	-2.16	5.62	2.66	0.31614	.	0.147638	0.43747	D	0.000525	T	0.71804	0.3383	N	0.19112	0.55	0.09310	N	0.999996	B	0.14012	0.009	B	0.11329	0.006	T	0.54221	-0.8326	10	0.25106	T	0.35	-0.9871	2.308	0.04179	0.126:0.4881:0.1228:0.263	.	817	Q8NEN9	PDZD8_HUMAN	F	817	ENSP00000334642:L817F	ENSP00000334642:L817F	L	-	3	2	PDZD8	119033783	0.000000	0.05858	0.200000	0.23457	0.979000	0.70002	-0.032000	0.12266	0.729000	0.32403	0.563000	0.77884	TTG		0.368	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1		NM_173791		4	63	1	0	0.00909568	0.009096	0.00919618	4	63		
DMBT1	1755	broad.mit.edu	37	10	124339372	124339372	+	Missense_Mutation	SNP	A	A	T	rs370180386	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:124339372A>T	ENST00000338354.3	+	10	1064	c.958A>T	c.(958-960)Acc>Tcc	p.T320S	DMBT1_ENST00000368909.3_Missense_Mutation_p.T320S|DMBT1_ENST00000368956.2_Missense_Mutation_p.T320S|DMBT1_ENST00000344338.3_Missense_Mutation_p.T320S|DMBT1_ENST00000368955.3_Missense_Mutation_p.T320S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.T320S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	320	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCTGGCTCACCCACAACTG	0.572													a|||	3	0.000599042	0.0015	0.0014	5008	,	,		19068	0.0		0.0	False		,,,				2504	0.0				Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NaN																	0				central_nervous_system(7)	7						c.(958-960)ACC>TCC		deleted in malignant brain tumors 1 isoform b		A	SER/THR,SER/THR,SER/THR	5,3829		0,5,1912	85.0	84.0	84.0		958,958,958	-7.4	0.0	10		84	0,8284		0,0,4142	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	58,58,58	0,5,6054	TT,TA,AA		0.0,0.1304,0.0413	benign,benign,benign	320/1786,320/2414,320/2404	124339372	5,12113	1917	4142	6059	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339372A>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.958A>T	10.37:g.124339372A>T	ENSP00000342210:p.Thr320Ser					DMBT1_uc001lgl.1_Missense_Mutation_p.T320S|DMBT1_uc001lgm.1_Missense_Mutation_p.T320S|DMBT1_uc009xzz.1_Missense_Mutation_p.T320S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.T172S	p.T320S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	1064	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	320			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.958A>T		.	.	.	.	.	.	.	.	.	.	T	0.217	-1.031452	0.02029	0.001304	0.0	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	3.71	-7.43	0.01383	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.09379	0.0231	N	0.01235	-0.94	0.09310	N	1	B;B;B;B;B	0.15930	0.0;0.002;0.0;0.015;0.002	B;B;B;B;B	0.13407	0.001;0.004;0.0;0.009;0.003	T	0.21211	-1.0252	9	0.06891	T	0.86	.	2.2434	0.04025	0.4603:0.0783:0.2619:0.1995	.	320;320;320;320;320	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	S	320	ENSP00000342210:T320S;ENSP00000343175:T320S;ENSP00000327747:T320S;ENSP00000357905:T320S;ENSP00000357951:T320S;ENSP00000357952:T320S	ENSP00000331522:T320S	T	+	1	0	DMBT1	124329362	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.560000	0.02160	-1.372000	0.02137	-0.490000	0.04691	ACC		0.572	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2		NM_004406		34	89	0	0	0	0.027894	0	34	89		
CHRNA10	57053	broad.mit.edu	37	11	3688596	3688596	+	Missense_Mutation	SNP	G	G	A	rs140976405		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:3688596G>A	ENST00000250699.2	-	4	832	c.761C>T	c.(760-762)gCg>gTg	p.A254V	CHRNA10_ENST00000493827.2_5'Flank|Y_RNA_ENST00000363331.1_RNA|CHRNA10_ENST00000534359.1_Missense_Mutation_p.R72C	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	254					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	GGCGAGCGGCGCAAGCAGCGA	0.697																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.2		NaN																	0				ovary(1)	1						c.(760-762)GCG>GTG		cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	G	VAL/ALA	0,4380		0,0,2190	22.0	23.0	23.0		761	5.3	1.0	11	dbSNP_134	23	1,8563		0,1,4281	no	missense	CHRNA10	NM_020402.2	64	0,1,6471	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	254/451	3688596	1,12943	2190	4282	6472	SO:0001583	missense	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3688596G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.761C>T	11.37:g.3688596G>A	ENSP00000250699:p.Ala254Val					CHRNA10_uc010qxt.1_Missense_Mutation_p.A48V|CHRNA10_uc010qxu.1_Missense_Mutation_p.A48V	p.A254V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	833	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	254			Helical; (Potential).			Missense_Mutation	SNP	ENST00000250699.2	37	c.761C>T	CCDS7745.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.088277|3.088277	0.55968|0.55968	0.0|0.0	1.17E-4|1.17E-4	ENSG00000129749|ENSG00000129749	ENST00000250699|ENST00000534359	T|.	0.73047|.	-0.71|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.000000|.	0.52532|.	D|.	0.000061|.	T|T	0.73481|0.73481	0.3592|0.3592	L|L	0.59967|0.59967	1.855|1.855	0.50632|0.50632	D|D	0.999883|0.999883	D|.	0.56521|.	0.976|.	P|.	0.54431|.	0.752|.	T|T	0.76063|0.76063	-0.3096|-0.3096	10|6	0.87932|0.87932	D|D	0|0	.|.	17.5755|17.5755	0.87947|0.87947	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	254|.	Q9GZZ6|.	ACH10_HUMAN|.	V|C	254|72	ENSP00000250699:A254V|.	ENSP00000250699:A254V|ENSP00000437107:R72C	A|R	-|-	2|1	0|0	CHRNA10|CHRNA10	3645172|3645172	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.978000|0.978000	0.69477|0.69477	9.748000|9.748000	0.98867|0.98867	2.490000|2.490000	0.84030|0.84030	0.561000|0.561000	0.74099|0.74099	GCG|CGC		0.697	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2				30	30	0	0	0	0.010818	0	30	30		
MICAL2	9645	broad.mit.edu	37	11	12234924	12234924	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:12234924C>G	ENST00000256194.4	+	7	1102	c.814C>G	c.(814-816)Cag>Gag	p.Q272E	MICAL2_ENST00000527546.1_Missense_Mutation_p.Q272E|MICAL2_ENST00000537344.1_Missense_Mutation_p.Q272E|MICAL2_ENST00000379612.3_Missense_Mutation_p.Q272E|MICAL2_ENST00000342902.5_Missense_Mutation_p.Q272E	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	272	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CATCTTCAATCAGAAATTTTT	0.463																																						uc001mjz.2		NaN																	0				upper_aerodigestive_tract(2)	2						c.(814-816)CAG>GAG		microtubule associated monoxygenase, calponin							131.0	148.0	143.0					11																	12234924		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12234924C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.814C>G	11.37:g.12234924C>G	ENSP00000256194:p.Gln272Glu					MICAL2_uc010rch.1_Missense_Mutation_p.Q272E|MICAL2_uc001mka.2_Missense_Mutation_p.Q272E|MICAL2_uc010rci.1_Missense_Mutation_p.Q272E|MICAL2_uc001mkb.2_Missense_Mutation_p.Q272E|MICAL2_uc001mkc.2_Missense_Mutation_p.Q272E|MICAL2_uc001mkd.2_Missense_Mutation_p.Q101E|MICAL2_uc001mke.2_5'Flank	p.Q272E	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	7	1102	+			272					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.814C>G	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875860	0.91664	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	M	0.92077	3.27	0.80722	D	1	D;D;D;D;D	0.61080	0.988;0.989;0.985;0.98;0.985	P;P;P;B;P	0.62885	0.594;0.908;0.799;0.39;0.743	T	0.50841	-0.8780	10	0.87932	D	0	.	18.029	0.89277	0.0:1.0:0.0:0.0	.	272;272;272;272;272	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	E	272	ENSP00000441689:Q272E;ENSP00000256194:Q272E;ENSP00000433965:Q272E;ENSP00000344894:Q272E;ENSP00000368932:Q272E	ENSP00000256194:Q272E	Q	+	1	0	MICAL2	12191500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.582000	0.87167	0.563000	0.77884	CAG		0.463	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		76	125	0	0	0	0.01441	0	76	125		
INTS5	80789	broad.mit.edu	37	11	62415960	62415961	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:62415960_62415961TC>AT	ENST00000330574.2	-	2	1643_1644	c.1591_1592GA>AT	c.(1591-1593)GAg>ATg	p.E531M	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	531					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						CAAACTCAACTCTTCAGGGCTT	0.624																																						uc001nud.2		NaN																	0				ovary(2)	2						c.(1591-1593)GAG>ATG		integrator complex subunit 5																																				SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62415960_62415961TC>AT	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.1591_1592delinsAT	11.37:g.62415960_62415961delinsAT	ENSP00000327889:p.Glu531Met					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.E531M	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	1644_1645	-			531					Q8N6W5|Q9C0G5	Missense_Mutation	DNP	ENST00000330574.2	37	c.1591_1592GA>AT	CCDS8027.1																																																																																				0.624	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1		NM_030628		112	140	0	0	0	0.004672	0	112	140		
AMOTL1	154810	broad.mit.edu	37	11	94599320	94599320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:94599320G>A	ENST00000433060.2	+	11	2616	c.2475G>A	c.(2473-2475)tgG>tgA	p.W825*	AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.W775*|AMOTL1_ENST00000317837.9_Nonsense_Mutation_p.W412*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	825					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AGAAGACCTGGAAGGGGAGCA	0.552																																						uc001pfb.2		NaN																	0				ovary(1)|breast(1)	2						c.(2473-2475)TGG>TGA		angiomotin like 1							46.0	49.0	48.0					11																	94599320		1949	4141	6090	SO:0001587	stop_gained	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94599320G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2475G>A	11.37:g.94599320G>A	ENSP00000387739:p.Trp825*					AMOTL1_uc001pfc.2_Nonsense_Mutation_p.W775*	p.W825*	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			11	2645	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	825					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Nonsense_Mutation	SNP	ENST00000433060.2	37	c.2475G>A	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	39	7.366120	0.98238	.	.	ENSG00000166025	ENST00000317829;ENST00000317837;ENST00000433060	.	.	.	5.23	5.23	0.72850	.	0.098404	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-12.6428	14.4376	0.67293	0.0:0.1471:0.8529:0.0	.	.	.	.	X	775;412;825	.	ENSP00000320968:W775X	W	+	3	0	AMOTL1	94238968	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.062000	0.76706	2.453000	0.82957	0.561000	0.74099	TGG		0.552	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847		20	25	0	0	0	0.008871	0	20	25		
MMP3	4314	broad.mit.edu	37	11	102709926	102709926	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:102709926C>T	ENST00000299855.5	-	7	1240	c.984G>A	c.(982-984)ttG>ttA	p.L328L	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	328					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	ATGAAGAGATCAAATGCAATT	0.358																																						uc001phj.1		NaN																	0				lung(1)|kidney(1)	2						c.(982-984)TTG>TTA		matrix metalloproteinase 3 preproprotein	Marimastat(DB00786)|Simvastatin(DB00641)						96.0	104.0	101.0					11																	102709926		2203	4299	6502	SO:0001819	synonymous_variant	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102709926C>T	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.984G>A	11.37:g.102709926C>T							p.L328L	NM_002422	NP_002413	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	7	1049	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	328			Hemopexin-like 1.		B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	c.984G>A	CCDS8323.1																																																																																				0.358	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2		NM_002422		50	70	0	0	0	0.01441	0	50	70		
ATM	472	broad.mit.edu	37	11	108117799	108117799	+	Missense_Mutation	SNP	G	G	A	rs202160435	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:108117799G>A	ENST00000452508.2	+	9	1199	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	ATM_ENST00000278616.4_Missense_Mutation_p.R337H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.|R -> H (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.F336_A340del(1)|p.R337H(1)		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)	TCAGGATTTCGTAATATTGCC	0.323			"""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)			G|||	2	0.000399361	0.0	0.0029	5008	,	,		17218	0.0		0.0	False		,,,				2504	0.0					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		2	Substitution - Missense(1)|Deletion - In frame(1)	p.R337C(2)|p.R337S(2)|p.R337H(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(1009-1011)CGT>CAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							61.0	62.0	61.0					11																	108117799		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108117799G>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.1010G>A	11.37:g.108117799G>A	ENSP00000388058:p.Arg337His	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.R337H	p.R337H	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)	8	1395	+		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)	337		R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1010G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274975	0.95459	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.02301	4.35;4.65;4.65	5.72	5.72	0.89469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12518	0.0304	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	T	0.00055	-1.2179	10	0.72032	D	0.01	.	19.8868	0.96915	0.0:0.0:1.0:0.0	.	337	Q13315	ATM_HUMAN	H	337	ENSP00000435747:R337H;ENSP00000278616:R337H;ENSP00000388058:R337H	ENSP00000278616:R337H	R	+	2	0	ATM	107623009	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.141000	0.94612	2.709000	0.92574	0.655000	0.94253	CGT		0.323	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		25	32	0	0	0	0.024334	0	25	32		
VPS26B	112936	broad.mit.edu	37	11	134114848	134114848	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:134114848C>G	ENST00000281187.5	+	5	1216	c.738C>G	c.(736-738)atC>atG	p.I246M	VPS26B_ENST00000525095.2_Missense_Mutation_p.I246M	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	246					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CCATCCCGATCCGGCTCTTCC	0.582											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(171;1263 1952 15904 45703 47982)	uc001qhe.2		NaN																	0					0						c.(736-738)ATC>ATG		vacuolar protein sorting 26 homolog B							65.0	61.0	62.0					11																	134114848		2201	4297	6498	SO:0001583	missense	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134114848C>G		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.738C>G	11.37:g.134114848C>G	ENSP00000281187:p.Ile246Met		OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1608		p.I246M	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	5	1194	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	246					Q96A55	Missense_Mutation	SNP	ENST00000281187.5	37	c.738C>G	CCDS8495.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415734	0.83449	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	H	0.95151	3.63	0.80722	D	1	D	0.67145	0.996	D	0.87578	0.998	D	0.89501	0.3764	9	0.87932	D	0	-32.479	13.8873	0.63717	0.0:0.9279:0.0:0.0721	.	246	Q4G0F5	VP26B_HUMAN	M	246;245	.	ENSP00000281187:I246M	I	+	3	3	VPS26B	133620058	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.926000	0.70070	2.884000	0.98904	0.655000	0.94253	ATC		0.582	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1		NM_052875		37	67	0	0	0	0.009718	0	37	67		
LRTM2	654429	broad.mit.edu	37	12	1940449	1940449	+	Missense_Mutation	SNP	C	C	T	rs527284344		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:1940449C>T	ENST00000543818.1	+	4	1258	c.416C>T	c.(415-417)tCg>tTg	p.S139L	LRTM2_ENST00000299194.1_Missense_Mutation_p.S139L|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139L|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	139						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CTGCGGCACTCGCCGCTGCTC	0.652																																						uc001qjt.2		NaN																	0				large_intestine(1)	1						c.(415-417)TCG>TTG		leucine-rich repeats and transmembrane domains 2							45.0	51.0	49.0					12																	1940449		2203	4300	6503	SO:0001583	missense	654429					integral to membrane		g.chr12:1940449C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.416C>T	12.37:g.1940449C>T	ENSP00000446278:p.Ser139Leu					CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.S139L|LRTM2_uc010sdx.1_Missense_Mutation_p.S139L|LRTM2_uc001qjv.2_Intron	p.S139L	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1222	+	Ovarian(42;0.107)		139			Extracellular (Potential).|LRR 3.		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.416C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.334890	0.01287	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.31510	1.49;1.49;1.49	5.25	1.24	0.21308	.	0.910058	0.09609	N	0.779217	T	0.05686	0.0149	N	0.00205	-1.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36696	-0.9737	10	0.02654	T	1	.	5.421	0.16400	0.0:0.5651:0.1339:0.301	.	139	Q8N967	LRTM2_HUMAN	L	139	ENSP00000446278:S139L;ENSP00000299194:S139L;ENSP00000444737:S139L	ENSP00000299194:S139L	S	+	2	0	LRTM2	1810710	0.000000	0.05858	0.000000	0.03702	0.268000	0.26511	1.097000	0.30988	-0.041000	0.13558	0.561000	0.74099	TCG		0.652	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1				96	100	0	0	0	0.01441	0	96	100		
DNM1L	10059	broad.mit.edu	37	12	32873665	32873665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:32873665C>T	ENST00000549701.1	+	8	882	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	DNM1L_ENST00000358214.5_Nonsense_Mutation_p.Q283*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.Q283*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.Q283*|DNM1L_ENST00000452533.2_Nonsense_Mutation_p.Q270*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.Q270*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.Q270*|DNM1L_ENST00000414834.2_Nonsense_Mutation_p.Q67*			O00429	DNM1L_HUMAN	dynamin 1-like	270	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCTTTTCTTCAAAAGAAATA	0.348																																						uc001rld.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(808-810)CAA>TAA		dynamin 1-like isoform 1							103.0	103.0	103.0					12																	32873665		2203	4300	6503	SO:0001587	stop_gained	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32873665C>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.808C>T	12.37:g.32873665C>T	ENSP00000450399:p.Gln270*					DNM1L_uc010skf.1_RNA|DNM1L_uc010skg.1_RNA|DNM1L_uc001rle.2_Nonsense_Mutation_p.Q270*|DNM1L_uc001rlf.2_Nonsense_Mutation_p.Q270*|DNM1L_uc010skh.1_Nonsense_Mutation_p.Q336*|DNM1L_uc001rlg.2_Nonsense_Mutation_p.Q336*|DNM1L_uc001rlh.2_Nonsense_Mutation_p.Q323*|DNM1L_uc010ski.1_Nonsense_Mutation_p.Q67*	p.Q270*	NM_012062	NP_036192	O00429	DNM1L_HUMAN			8	969	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		270			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Nonsense_Mutation	SNP	ENST00000549701.1	37	c.808C>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495679	0.96355	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000;ENST00000548750	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	19.5404	0.95271	0.0:1.0:0.0:0.0	.	.	.	.	X	270;336;270;283;270;283;270;270;67;283;241	.	ENSP00000266479:Q270X	Q	+	1	0	DNM1L	32764932	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.608000	0.82898	2.630000	0.89119	0.467000	0.42956	CAA		0.348	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1		NM_012062		31	53	0	0	0	0.009535	0	31	53		
ERBB3	2065	broad.mit.edu	37	12	56478817	56478817	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:56478817G>A	ENST00000267101.3	+	3	713	c.273G>A	c.(271-273)atG>atA	p.M91I	ERBB3_ENST00000415288.2_Missense_Mutation_p.M32I|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.M91I	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	91					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.M91I(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCGTGGCCATGAATGAATTCT	0.473																																						uc001sjh.2		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(271-273)ATG>ATA		erbB-3 isoform 1 precursor							176.0	147.0	157.0					12																	56478817		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56478817G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.273G>A	12.37:g.56478817G>A	ENSP00000267101:p.Met91Ile					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.M32I|ERBB3_uc001sjg.2_Missense_Mutation_p.M91I	p.M91I	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	466	+			91			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.273G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262270	0.39995	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.82	4.91	0.64330	EGF receptor, L domain (1);	0.071573	0.64402	D	0.000012	T	0.69223	0.3087	L	0.31926	0.97	0.80722	D	1	B;B	0.26445	0.01;0.149	B;B	0.23419	0.016;0.046	T	0.65340	-0.6192	10	0.39692	T	0.17	.	8.6273	0.33897	0.0769:0.0:0.7697:0.1534	.	91;91	P21860;P21860-2	ERBB3_HUMAN;.	I	91;32;91;91;91;32;32	ENSP00000448636:M91I;ENSP00000449138:M32I;ENSP00000267101:M91I;ENSP00000415753:M91I;ENSP00000449713:M32I;ENSP00000408340:M32I	ENSP00000267101:M91I	M	+	3	0	ERBB3	54765084	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.048000	0.57390	1.409000	0.46915	0.655000	0.94253	ATG		0.473	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				57	107	0	0	0	0.01441	0	57	107		
OAS3	4940	broad.mit.edu	37	12	113385903	113385903	+	Splice_Site	SNP	C	C	T	rs565465885		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr12:113385903C>T	ENST00000228928.7	+	5	1207	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	343	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGAAGGGGCCGGTAAGTGAG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		19911	0.001		0.0	False		,,,				2504	0.0					uc001tug.2		NaN																	0				central_nervous_system(1)	1						c.(1027-1029)CCG>CTG		2'-5'oligoadenylate synthetase 3							27.0	28.0	28.0					12																	113385903		1920	4117	6037	SO:0001630	splice_region_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113385903C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1029+1C>T	12.37:g.113385903C>T							p.P343L	NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN			5	1115	+			343			OAS domain 1.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.1028C>T	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302064	0.23736	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.07908	3.15	3.95	-1.17	0.09648	-oligoadenylate synthetase 1, domain 2/C-terminal (1);-5&apos (1);2&apos (1);	.	.	.	.	T	0.07369	0.0186	L	0.41961	1.31	0.09310	N	0.999997	B	0.15473	0.013	B	0.12156	0.007	T	0.35251	-0.9796	9	0.40728	T	0.16	.	7.2817	0.26314	0.0:0.4467:0.0:0.5533	.	343	Q9Y6K5	OAS3_HUMAN	L	343	ENSP00000228928:P343L	ENSP00000228928:P343L	P	+	2	0	OAS3	111870286	0.000000	0.05858	0.064000	0.19789	0.002000	0.02628	-0.086000	0.11233	-0.118000	0.11851	-0.768000	0.03414	CCG		0.567	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			Missense_Mutation	18	32	0	0	0	0.010504	0	18	32		
ATP12A	479	broad.mit.edu	37	13	25283562	25283562	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:25283562C>T	ENST00000381946.3	+	18	2721	c.2554C>T	c.(2554-2556)Cgc>Tgc	p.R852C	ATP12A_ENST00000218548.6_Missense_Mutation_p.R858C			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	852					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CAGGAAGCCTCGCCACAAGAA	0.557																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2554-2556)CGC>TGC		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						79.0	73.0	75.0					13																	25283562		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25283562C>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2554C>T	13.37:g.25283562C>T	ENSP00000371372:p.Arg852Cys					ATP12A_uc010aaa.2_Missense_Mutation_p.R858C	p.R852C	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	18	2741	+		Lung SC(185;0.0225)|Breast(139;0.077)	852			Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2554C>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320636	0.81469	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.97186	-4.28;-4.28	5.92	5.92	0.95590	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99297	1.0900	10	0.87932	D	0	.	17.8019	0.88590	0.0:1.0:0.0:0.0	.	858;852	P54707-2;P54707	.;AT12A_HUMAN	C	858;852	ENSP00000218548:R858C;ENSP00000371372:R852C	ENSP00000218548:R858C	R	+	1	0	ATP12A	24181562	0.976000	0.34144	1.000000	0.80357	0.890000	0.51754	1.768000	0.38511	2.795000	0.96236	0.655000	0.94253	CGC		0.557	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1		NM_001676		34	37	0	0	0	0.015359	0	34	37		
BRCA2	675	broad.mit.edu	37	13	32910686	32910686	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:32910686G>C	ENST00000380152.3	+	11	2427	c.2194G>C	c.(2194-2196)Gag>Cag	p.E732Q	BRCA2_ENST00000544455.1_Missense_Mutation_p.E732Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	732	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TATAAAAGAAGAGGTCTTGGC	0.373			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NaN	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(2194-2196)GAG>CAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							59.0	61.0	61.0					13																	32910686		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32910686G>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2194G>C	13.37:g.32910686G>C	ENSP00000369497:p.Glu732Gln	TCGA Ovarian(8;0.087)					p.E732Q	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	2421	+		Lung SC(185;0.0262)	732			Interaction with NPM1.		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.2194G>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	5.351	0.249982	0.10130	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.46819	0.86;0.86	5.47	-1.56	0.08532	.	0.712889	0.13277	N	0.400008	T	0.29093	0.0723	L	0.40543	1.245	0.09310	N	1	B	0.27068	0.167	B	0.19148	0.024	T	0.20009	-1.0288	10	0.56958	D	0.05	.	1.8386	0.03145	0.5153:0.1258:0.2363:0.1226	.	732	P51587	BRCA2_HUMAN	Q	732	ENSP00000369497:E732Q;ENSP00000439902:E732Q	ENSP00000369497:E732Q	E	+	1	0	BRCA2	31808686	0.001000	0.12720	0.074000	0.20217	0.036000	0.12997	0.340000	0.19892	0.075000	0.16796	-0.469000	0.05056	GAG		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059		26	29	0	0	0	0.027356	0	26	29		
TRPC4	7223	broad.mit.edu	37	13	38211379	38211379	+	Missense_Mutation	SNP	G	G	T	rs146885289		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:38211379G>T	ENST00000379705.3	-	11	3452	c.2595C>A	c.(2593-2595)ttC>ttA	p.F865L	TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.F692L|TRPC4_ENST00000379679.1_Missense_Mutation_p.F692L|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.F870L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	865	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.F865F(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTGAAACAGAGAAGATTTGGT	0.413																																						uc001uws.2		NaN																	1	Substitution - coding silent(1)	p.F865F(1)	skin(1)	ovary(3)|skin(2)|breast(1)	6						c.(2593-2595)TTC>TTA		transient receptor potential cation channel,							82.0	79.0	80.0					13																	38211379		2203	4299	6502	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211379G>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2595C>A	13.37:g.38211379G>T	ENSP00000369027:p.Phe865Leu					TRPC4_uc010abv.2_Missense_Mutation_p.F445L|TRPC4_uc001uwt.2_Intron|TRPC4_uc010tey.1_Intron|TRPC4_uc010abw.2_Missense_Mutation_p.F692L|TRPC4_uc010abx.2_Missense_Mutation_p.F870L|TRPC4_uc010aby.2_Intron	p.F865L	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	2830	-			865			Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2595C>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320986	0.60634	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679	T;T;T;T	0.67171	-0.25;-0.25;-0.09;-0.09	5.76	4.91	0.64330	.	1.141940	0.06435	N	0.724937	T	0.53190	0.1781	N	0.08118	0	0.80722	D	1	B;B;B	0.28233	0.073;0.204;0.007	B;B;B	0.30401	0.037;0.115;0.002	T	0.08868	-1.0701	10	0.29301	T	0.29	-29.6067	14.9378	0.70970	0.0687:0.0:0.9313:0.0	.	870;692;865	Q9UBN4-5;Q9UBN4-6;Q9UBN4	.;.;TRPC4_HUMAN	L	865;870;692;692	ENSP00000369027:F865L;ENSP00000369003:F870L;ENSP00000342580:F692L;ENSP00000369001:F692L	ENSP00000342580:F692L	F	-	3	2	TRPC4	37109379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.033000	0.64146	1.416000	0.47057	0.563000	0.77884	TTC		0.413	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2		NM_003306		7	79	1	0	5.18039e-06	0.00308	5.29615e-06	7	79		
THSD1	55901	broad.mit.edu	37	13	52952331	52952331	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952331G>A	ENST00000258613.4	-	5	1952	c.1774C>T	c.(1774-1776)Ccg>Tcg	p.P592S	THSD1_ENST00000544466.1_Missense_Mutation_p.P213S|THSD1_ENST00000349258.4_Missense_Mutation_p.P539S	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	592					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGCTGCTCCGGAAATGGGGAT	0.582																																						uc001vgo.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1774-1776)CCG>TCG		thrombospondin type I domain-containing 1							54.0	62.0	59.0					13																	52952331		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952331G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1774C>T	13.37:g.52952331G>A	ENSP00000258613:p.Pro592Ser					THSD1_uc001vgp.2_Missense_Mutation_p.P539S|THSD1_uc010tgz.1_Missense_Mutation_p.P213S|THSD1_uc010aea.2_Missense_Mutation_p.P53S	p.P592S	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2319	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	592			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1774C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274150	0.23221	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.28895	2.32;1.59;2.51	5.37	3.62	0.41486	.	0.931592	0.09077	N	0.851880	T	0.23532	0.0569	L	0.34521	1.04	0.24488	N	0.994314	B;B	0.28552	0.145;0.215	B;B	0.28465	0.09;0.085	T	0.30534	-0.9975	10	0.66056	D	0.02	-0.0228	4.8898	0.13721	0.0797:0.1627:0.6115:0.1461	.	539;592	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	S	539;213;592	ENSP00000340650:P539S;ENSP00000438512:P213S;ENSP00000258613:P592S	ENSP00000258613:P592S	P	-	1	0	THSD1	51850332	0.000000	0.05858	0.083000	0.20561	0.463000	0.32649	0.411000	0.21115	0.623000	0.30267	0.650000	0.86243	CCG		0.582	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3				68	83	0	0	0	0.01441	0	68	83		
THSD1	55901	broad.mit.edu	37	13	52952573	52952573	+	Missense_Mutation	SNP	G	G	C	rs372648101		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952573G>C	ENST00000258613.4	-	5	1710	c.1532C>G	c.(1531-1533)tCt>tGt	p.S511C	THSD1_ENST00000544466.1_Missense_Mutation_p.S132C|THSD1_ENST00000349258.4_Missense_Mutation_p.S458C	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	511					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCGCTGCCAGAGGCATCATC	0.602																																						uc001vgo.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1531-1533)TCT>TGT		thrombospondin type I domain-containing 1							94.0	97.0	96.0					13																	52952573		2203	4300	6503	SO:0001583	missense	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952573G>C	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1532C>G	13.37:g.52952573G>C	ENSP00000258613:p.Ser511Cys					THSD1_uc001vgp.2_Missense_Mutation_p.S458C|THSD1_uc010tgz.1_Missense_Mutation_p.S132C|THSD1_uc010aea.2_5'UTR	p.S511C	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2077	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	511			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	ENST00000258613.4	37	c.1532C>G	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	g	13.80	2.343954	0.41498	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.36699	1.96;1.24;2.16	6.06	4.34	0.51931	.	0.355972	0.30620	N	0.009224	T	0.53498	0.1800	M	0.67953	2.075	0.23739	N	0.996979	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.46843	-0.9162	10	0.87932	D	0	-25.5408	7.1804	0.25770	0.1404:0.0:0.722:0.1376	.	458;511	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	C	458;132;511	ENSP00000340650:S458C;ENSP00000438512:S132C;ENSP00000258613:S511C	ENSP00000258613:S511C	S	-	2	0	THSD1	51850574	1.000000	0.71417	0.018000	0.16275	0.351000	0.29236	4.241000	0.58707	0.902000	0.36520	0.650000	0.86243	TCT		0.602	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3				66	100	0	0	0	0.01441	0	66	100		
THSD1	55901	broad.mit.edu	37	13	52952895	52952895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:52952895G>A	ENST00000258613.4	-	5	1388	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*	THSD1_ENST00000544466.1_Nonsense_Mutation_p.Q25*|THSD1_ENST00000349258.4_Nonsense_Mutation_p.Q351*	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	404					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CCCTGGGGCTGAAGAGGAGAT	0.428																																						uc001vgo.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1210-1212)CAG>TAG		thrombospondin type I domain-containing 1							51.0	49.0	49.0					13																	52952895		2203	4300	6503	SO:0001587	stop_gained	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952895G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1210C>T	13.37:g.52952895G>A	ENSP00000258613:p.Gln404*					THSD1_uc001vgp.2_Nonsense_Mutation_p.Q351*|THSD1_uc010tgz.1_Nonsense_Mutation_p.Q25*|THSD1_uc010aea.2_5'UTR	p.Q404*	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	1755	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	404			Extracellular (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Nonsense_Mutation	SNP	ENST00000258613.4	37	c.1210C>T	CCDS9432.1	.	.	.	.	.	.	.	.	.	.	g	39	7.309082	0.98203	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	.	.	.	5.83	4.98	0.66077	.	0.360783	0.29473	N	0.012052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.8996	13.691	0.62547	0.0737:0.0:0.9263:0.0	.	.	.	.	X	351;25;404	.	ENSP00000258613:Q404X	Q	-	1	0	THSD1	51850896	0.994000	0.37717	0.513000	0.27749	0.692000	0.40212	3.223000	0.51231	1.453000	0.47775	0.650000	0.86243	CAG		0.428	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3				26	46	0	0	0	0.027356	0	26	46		
DACH1	1602	broad.mit.edu	37	13	72147065	72147065	+	Missense_Mutation	SNP	C	C	T	rs370098956		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr13:72147065C>T	ENST00000359684.2	-	5	1367	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	DACH1_ENST00000305425.4_Missense_Mutation_p.M404I|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	456					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCATCTGGCTCATTGCCATGG	0.453																																						uc010thn.1		NaN																	0				breast(1)	1						c.(1204-1206)ATG>ATA		dachshund homolog 1 isoform a		C	,ILE/MET,	1,4177		0,1,2088	102.0	104.0	103.0		,1212,	5.7	1.0	13		103	1,8507		0,1,4253	no	intron,missense,intron	DACH1	NM_004392.5,NM_080759.4,NM_080760.4	,10,	0,2,6341	TT,TC,CC		0.0118,0.0239,0.0158	,benign,	,404/709,	72147065	2,12684	2089	4254	6343	SO:0001583	missense	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72147065C>T	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1368G>A	13.37:g.72147065C>T	ENSP00000352712:p.Met456Ile					DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	p.M402I	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	5	1629	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	454					D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	ENST00000359684.2	37	c.1206G>A		.	.	.	.	.	.	.	.	.	.	C	23.5	4.421782	0.83559	2.39E-4	1.18E-4	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.43294	1.09;0.95	5.72	5.72	0.89469	.	0.034085	0.85682	D	0.000000	T	0.42404	0.1201	L	0.46741	1.465	0.80722	D	1	B	0.22003	0.063	B	0.17722	0.019	T	0.25187	-1.0139	10	0.66056	D	0.02	-13.8468	19.8252	0.96614	0.0:1.0:0.0:0.0	.	402	Q9UI36-2	.	I	404;456;456	ENSP00000304994:M404I;ENSP00000352712:M456I	ENSP00000304994:M404I	M	-	3	0	DACH1	71045066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.346000	0.79347	2.859000	0.98148	0.591000	0.81541	ATG		0.453	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392		33	47	0	0	0	0.010818	0	33	47		
CHD8	57680	broad.mit.edu	37	14	21894345	21894345	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:21894345G>C	ENST00000557364.1	-	5	1921	c.1658C>G	c.(1657-1659)tCa>tGa	p.S553*	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Nonsense_Mutation_p.S274*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.S553*			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	553					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCCACATCTGAATTATCAGA	0.373																																						uc001was.1		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(820-822)TCA>TGA		chromodomain helicase DNA binding protein 8							112.0	98.0	103.0					14																	21894345		1896	4131	6027	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21894345G>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1658C>G	14.37:g.21894345G>C	ENSP00000451601:p.Ser553*					CHD8_uc001war.1_Nonsense_Mutation_p.S170*	p.S274*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	5	915	-	all_cancers(95;0.00121)		553					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.821C>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	41	9.022601	0.99038	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-10.0964	18.349	0.90331	0.0:0.0:1.0:0.0	.	.	.	.	X	274;553;273;553	.	ENSP00000262707:S273X	S	-	2	0	CHD8	20964185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.898000	0.75676	2.625000	0.88918	0.591000	0.81541	TCA		0.373	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920		15	16	0	0	0	0.024245	0	15	16		
DHRS4L1	728635	broad.mit.edu	37	14	24506961	24506961	+	RNA	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:24506961C>G	ENST00000558293.1	+	0	176					NR_102693.1																						GGATCGGCTTCGCCGTCGCCC	0.612																																						uc010alc.2		NaN																	0					0						c.(136-138)TTC>TTG		dehydrogenase/reductase (SDR family) member 4							28.0	30.0	29.0					14																	24506961		2203	4298	6501			728635						binding|oxidoreductase activity	g.chr14:24506961C>G																													14.37:g.24506961C>G						DHRS4L1_uc010tnu.1_Intron	p.F46L	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN			2	138	+			46			NADP (By similarity).			Missense_Mutation	SNP	ENST00000558293.1	37	c.138C>G		.	.	.	.	.	.	.	.	.	.	-	0.068	-1.208789	0.01568	.	.	ENSG00000225766	ENST00000397065	.	.	.	3.31	-6.62	0.01813	NAD(P)-binding domain (1);	.	.	.	.	T	0.09642	0.0237	N	0.01729	-0.75	.	.	.	B	0.25272	0.122	B	0.35550	0.205	T	0.31998	-0.9923	7	0.30854	T	0.27	.	0.15	0.00092	0.2431:0.2193:0.2455:0.292	.	46	P0CG22	DR4L1_HUMAN	L	46	.	ENSP00000380255:F46L	F	+	3	2	AL136295.1	23576801	0.000000	0.05858	0.430000	0.26722	0.013000	0.08279	-7.155000	0.00043	-2.048000	0.00907	-0.749000	0.03505	TTC		0.612	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1				9	64	0	0	0	0.008291	0	9	64		
C14orf182	283551	broad.mit.edu	37	14	50472404	50472404	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:50472404C>T	ENST00000399206.1	-	1	1834	c.114G>A	c.(112-114)ccG>ccA	p.P38P	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	38			P -> L (in dbSNP:rs6572635).							large_intestine(2)|urinary_tract(1)	3						AAAGACCTCTCGGTTCGTGAA	0.537																																						uc001wxi.1		NaN																	0					0						c.(112-114)CCG>CCA		hypothetical protein LOC283551							267.0	284.0	278.0					14																	50472404		2039	4188	6227	SO:0001819	synonymous_variant	283551							g.chr14:50472404C>T	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.114G>A	14.37:g.50472404C>T							p.P38P	NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN			1	1835	-			38					A8MYX4	Silent	SNP	ENST00000399206.1	37	c.114G>A	CCDS41949.1																																																																																				0.537	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1		NM_001012706		140	180	0	0	0	0.01441	0	140	180		
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr14:105361169A>C	ENST00000414716.3	+	19	4767	c.4539A>C	c.(4537-4539)tcA>tcC	p.S1513S	CEP170B_ENST00000556508.1_Silent_p.S1478S|CEP170B_ENST00000453495.1_Silent_p.S1549S|CEP170B_ENST00000418279.1_Silent_p.S1443S	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1548						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711																																						uc010axb.2		NaN																	7	Substitution - coding silent(7)		prostate(3)|kidney(2)|central_nervous_system(2)	breast(1)	1						c.(4537-4539)TCA>TCC		hypothetical protein LOC283638 isoform 1							11.0	15.0	14.0					14																	105361169		1915	4097	6012	SO:0001819	synonymous_variant	283638					cytoplasm|microtubule		g.chr14:105361169A>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.4539A>C	14.37:g.105361169A>C						INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.S1443S|KIAA0284_uc001yps.2_Silent_p.S1454S|KIAA0284_uc001ypt.2_Silent_p.S181S	p.S1513S	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)	19	4763	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1548					Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	c.4539A>C	CCDS45175.1																																																																																				0.711	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2		NM_001112726		7	24	0	0	0	0.021523	0	7	24		
DUOX2	50506	broad.mit.edu	37	15	45399061	45399061	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:45399061G>A	ENST00000603300.1	-	15	2002	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DUOX2_ENST00000389039.6_Silent_p.I600I	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	600					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAATGATGGTGATGGCAAAAC	0.597																																						uc010bea.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1798-1800)ATC>ATT		dual oxidase 2 precursor							59.0	55.0	57.0					15																	45399061		2196	4296	6492	SO:0001819	synonymous_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45399061G>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1800C>T	15.37:g.45399061G>A						DUOX2_uc001zun.2_Silent_p.I600I	p.I600I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	15	2003	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	600			Extracellular (Potential).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	ENST00000603300.1	37	c.1800C>T	CCDS10117.1																																																																																				0.597	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_014080		7	11	0	0	0	0.001984	0	7	11		
RPP25	54913	broad.mit.edu	37	15	75248616	75248616	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:75248616G>C	ENST00000322177.5	-	1	1189	c.309C>G	c.(307-309)cgC>cgG	p.R103R	RPP25_ENST00000499788.2_Silent_p.R103R	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	103					tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			breast(1)|lung(1)	2						GCCACACCTCGCGTACGCTCC	0.716																																						uc002azj.1		NaN																	0					0						c.(307-309)CGC>CGG		ribonuclease P 25kDa subunit							7.0	10.0	9.0					15																	75248616		2156	4239	6395	SO:0001819	synonymous_variant	54913				tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding	g.chr15:75248616G>C	AY034074	CCDS10274.1	15q24.2	2012-05-21	2007-06-26		ENSG00000178718	ENSG00000178718			30361	protein-coding gene	gene with protein product	"""RNase P protein subunit p25"""		"""ribonuclease P 25kDa subunit"""			12003489	Standard	NM_017793		Approved	FLJ20374	uc002azj.1	Q9BUL9	OTTHUMG00000142822	ENST00000322177.5:c.309C>G	15.37:g.75248616G>C							p.R103R	NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN			1	1160	-			103					D3DW70|Q9NX88	Silent	SNP	ENST00000322177.5	37	c.309C>G	CCDS10274.1																																																																																				0.716	RPP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286413.1		NM_017793		7	18	0	0	0	0.00308	0	7	18		
RHOT2	89941	broad.mit.edu	37	16	723543	723543	+	Silent	SNP	C	C	T	rs140204401		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:723543C>T	ENST00000315082.4	+	19	1908	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	RHBDL1_ENST00000219551.2_5'Flank|RHBDL1_ENST00000352681.3_5'Flank	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	598	Miro 2.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGGGGGTTGTCGGGGCCGCCG	0.627																																						uc002cip.2		NaN																	0				pancreas(1)	1						c.(1792-1794)GTC>GTT		ras homolog gene family, member T2		C		0,4398		0,0,2199	54.0	66.0	62.0		1794	-9.8	0.0	16	dbSNP_134	62	1,8583	1.2+/-3.3	0,1,4291	no	coding-synonymous	RHOT2	NM_138769.1		0,1,6490	TT,TC,CC		0.0116,0.0,0.0077		598/619	723543	1,12981	2199	4292	6491	SO:0001819	synonymous_variant	89941				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	g.chr16:723543C>T	BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.1794C>T	16.37:g.723543C>T						RHOT2_uc002ciq.2_Silent_p.V491V|RHOT2_uc010bqy.2_Silent_p.V377V|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank|RHBDL1_uc002cis.1_5'Flank	p.V598V	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN			19	1861	+		Hepatocellular(780;0.0218)	598			Miro 2.|Helical; Anchor for type IV membrane protein; (Potential).		A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	c.1794C>T	CCDS10417.1																																																																																				0.627	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1		NM_138769		127	144	0	0	0	0.01441	0	127	144		
MRPS34	65993	broad.mit.edu	37	16	1822511	1822511	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:1822511T>C	ENST00000397375.2	-	3	403	c.368A>G	c.(367-369)aAg>aGg	p.K123R	EME2_ENST00000307394.7_5'Flank|EME2_ENST00000568449.1_5'Flank|MRPS34_ENST00000177742.3_Missense_Mutation_p.K130R|NME3_ENST00000563498.1_5'Flank|NME3_ENST00000219302.3_5'Flank	NM_023936.1	NP_076425.1	P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	123						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|skin(2)	3						GCTCTCAGTCTTCCCTGATGA	0.627																																						uc002cmo.2		NaN																	0				skin(2)	2						c.(367-369)AAG>AGG		mitochondrial ribosomal protein S34							68.0	73.0	71.0					16																	1822511		2197	4300	6497	SO:0001583	missense	65993					mitochondrion|ribosome	protein binding	g.chr16:1822511T>C	BC001182	CCDS10444.1, CCDS73805.1	16p13.3	2012-09-13			ENSG00000074071	ENSG00000074071		"""Mitochondrial ribosomal proteins / small subunits"""	16618	protein-coding gene	gene with protein product		611994					Standard	NM_023936		Approved	MRP-S12, MGC2616	uc002cmo.3	P82930	OTTHUMG00000128636	ENST00000397375.2:c.368A>G	16.37:g.1822511T>C	ENSP00000380531:p.Lys123Arg					NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'UTR|MRPS34_uc002cmp.1_Missense_Mutation_p.K130R|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	p.K123R	NM_023936	NP_076425	P82930	RT34_HUMAN			3	388	-			123					Q9BVI7	Missense_Mutation	SNP	ENST00000397375.2	37	c.368A>G	CCDS10444.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339933	0.41398	.	.	ENSG00000074071	ENST00000397375;ENST00000177742	T;T	0.53640	0.61;0.61	4.02	0.499	0.16914	.	0.231983	0.40908	N	0.000986	T	0.26521	0.0648	N	0.17872	0.535	0.41738	D	0.98959	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.007	T	0.05599	-1.0875	10	0.21014	T	0.42	-5.5931	7.5514	0.27800	0.0:0.265:0.0:0.735	.	130;123	C9JJ19;P82930	.;RT34_HUMAN	R	123;130	ENSP00000380531:K123R;ENSP00000177742:K130R	ENSP00000177742:K130R	K	-	2	0	MRPS34	1762512	1.000000	0.71417	0.003000	0.11579	0.056000	0.15407	3.873000	0.56093	-0.104000	0.12154	0.459000	0.35465	AAG		0.627	MRPS34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250506.1		NM_023936		12	321	0	0	0	0.020292	0	12	321		
RPS2	6187	broad.mit.edu	37	16	2012571	2012571	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:2012571C>T	ENST00000343262.4	-	6	692	c.636G>A	c.(634-636)aaG>aaA	p.K212K	RPS2_ENST00000530225.1_Intron|SNHG9_ENST00000459373.1_lincRNA|SNORA10_ENST00000384084.1_RNA|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000526522.1_Silent_p.K154K|RPS2_ENST00000529806.1_Silent_p.K182K	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	212					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCATGAGCAGCTTCTTAGGCA	0.632																																						uc002cnn.2		NaN																	0					0						c.(634-636)AAG>AAA		ribosomal protein S2							25.0	27.0	26.0					16																	2012571		2184	4268	6452	SO:0001819	synonymous_variant	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2012571C>T	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.636G>A	16.37:g.2012571C>T						RPS2_uc010bsa.1_RNA|RPS2_uc002cnl.2_Silent_p.K154K|RPS2_uc002cnm.2_RNA|RPS2_uc002cno.2_Silent_p.K212K|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.2_5'Flank|SNORA78_uc002cns.1_5'Flank	p.K212K	NM_002952	NP_002943	P15880	RS2_HUMAN			5	824	-			212					B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	c.636G>A	CCDS10452.1																																																																																				0.632	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2		NM_002952		44	53	0	0	0	0.01441	0	44	53		
PAQR4	124222	broad.mit.edu	37	16	3021898	3021898	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:3021898C>T	ENST00000318782.8	+	3	1201	c.771C>T	c.(769-771)ggC>ggT	p.G257G	PAQR4_ENST00000293978.8_Silent_p.G218G|PKMYT1_ENST00000571102.1_5'Flank|PAQR4_ENST00000574988.1_Silent_p.G190G|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000576565.1_Silent_p.G190G|PAQR4_ENST00000572687.1_Silent_p.G183G	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	257						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TGCACGCCGGCGTCGTGCCCG	0.672																																						uc002csj.3		NaN																	0					0						c.(769-771)GGC>GGT		progestin and adipoQ receptor family member IV							28.0	30.0	29.0					16																	3021898		2198	4297	6495	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3021898C>T		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.771C>T	16.37:g.3021898C>T						PAQR4_uc002csk.3_Silent_p.G218G|PAQR4_uc002csl.3_Silent_p.G183G|PAQR4_uc010uwm.1_Silent_p.G188G	p.G257G	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN			3	1105	+			257			Helical; (Potential).		A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.771C>T	CCDS10485.1																																																																																				0.672	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1		NM_152341		42	64	0	0	0	0.01441	0	42	64		
TEKT5	146279	broad.mit.edu	37	16	10721530	10721530	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:10721530G>C	ENST00000283025.2	-	7	1439	c.1368C>G	c.(1366-1368)atC>atG	p.I456M	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	456						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGTTGGCCTTGATGGCGAGCT	0.647																																						uc002czz.1		NaN																	0				ovary(2)	2						c.(1366-1368)ATC>ATG		tektin 5							73.0	63.0	66.0					16																	10721530		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10721530G>C		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.1368C>G	16.37:g.10721530G>C	ENSP00000283025:p.Ile456Met						p.I456M	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			7	1440	-			456					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.1368C>G	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912287	0.52439	.	.	ENSG00000153060	ENST00000283025	T	0.02812	4.15	4.99	2.96	0.34315	.	0.236151	0.28933	N	0.013675	T	0.07234	0.0183	M	0.61703	1.905	0.33637	D	0.606781	P	0.37015	0.578	P	0.45660	0.489	T	0.06075	-1.0847	10	0.44086	T	0.13	-17.6471	13.1961	0.59738	0.0:0.4666:0.5334:0.0	.	456	Q96M29	TEKT5_HUMAN	M	456	ENSP00000283025:I456M	ENSP00000283025:I456M	I	-	3	3	TEKT5	10629031	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.994000	0.40757	0.476000	0.27440	0.505000	0.49811	ATC		0.647	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1		NM_144674		73	83	0	0	0	0.01441	0	73	83		
HS3ST4	9951	broad.mit.edu	37	16	26146939	26146939	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:26146939G>A	ENST00000331351.5	+	2	1133	c.741G>A	c.(739-741)gtG>gtA	p.V247V	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	247					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTAGAAATGTGATGCCCAAGA	0.423																																						uc002dof.2		NaN																	0				large_intestine(1)|breast(1)	2						c.(739-741)GTG>GTA		heparan sulfate D-glucosaminyl							66.0	61.0	63.0					16																	26146939		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26146939G>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.741G>A	16.37:g.26146939G>A							p.V247V	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1133	+			247			Lumenal (Potential).		Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.741G>A	CCDS53995.1																																																																																				0.423	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2		NM_006040		25	30	0	0	0	0.01892	0	25	30		
PRSS54	221191	broad.mit.edu	37	16	58320015	58320015	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:58320015G>A	ENST00000219301.4	-	5	742	c.348C>T	c.(346-348)atC>atT	p.I116I	PRSS54_ENST00000563336.1_5'Flank|PRSS54_ENST00000567164.1_Silent_p.I116I|PRSS54_ENST00000543437.1_Silent_p.I17I	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	116	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCTCATGGATGATGATGGTAT	0.458																																						uc002enf.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(346-348)ATC>ATT		plasma kallikrein-like protein 4 precursor							292.0	244.0	260.0					16																	58320015		2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58320015G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.348C>T	16.37:g.58320015G>A						PRSS54_uc002eng.2_Silent_p.I116I|PRSS54_uc010vie.1_Silent_p.I17I	p.I116I	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			5	743	-			116			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.348C>T	CCDS32463.1																																																																																				0.458	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1		NM_001080492		72	111	0	0	0	0.01441	0	72	111		
PRSS54	221191	broad.mit.edu	37	16	58320044	58320044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:58320044G>A	ENST00000219301.4	-	5	713	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	PRSS54_ENST00000563336.1_5'Flank|PRSS54_ENST00000567164.1_Missense_Mutation_p.H107Y|PRSS54_ENST00000543437.1_Missense_Mutation_p.H8Y	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	107	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACTCTGTGTGAGCAATCTTG	0.453																																						uc002enf.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(319-321)CAC>TAC		plasma kallikrein-like protein 4 precursor							261.0	213.0	230.0					16																	58320044		2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58320044G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.319C>T	16.37:g.58320044G>A	ENSP00000219301:p.His107Tyr					PRSS54_uc002eng.2_Missense_Mutation_p.H107Y|PRSS54_uc010vie.1_Missense_Mutation_p.H8Y	p.H107Y	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			5	714	-			107			Peptidase S1.		Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.319C>T	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	G	5.892	0.348629	0.11126	.	.	ENSG00000103023	ENST00000219301;ENST00000543437	D;T	0.88277	-2.36;0.31	5.69	4.74	0.60224	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.186677	0.38164	N	0.001785	D	0.85843	0.5791	L	0.60455	1.87	0.09310	N	1	B	0.22909	0.077	B	0.26969	0.075	T	0.74870	-0.3517	10	0.32370	T	0.25	-13.0782	10.4336	0.44421	0.0888:0.0:0.9112:0.0	.	107	Q6PEW0	PRS54_HUMAN	Y	107;8	ENSP00000219301:H107Y;ENSP00000437705:H8Y	ENSP00000219301:H107Y	H	-	1	0	PRSS54	56877545	0.440000	0.25618	0.025000	0.17156	0.190000	0.23558	2.552000	0.45828	1.405000	0.46838	0.650000	0.86243	CAC		0.453	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1		NM_001080492		68	96	0	0	0	0.01441	0	68	96		
CDH1	999	broad.mit.edu	37	16	68847234	68847234	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:68847234G>A	ENST00000261769.5	+	9	1347	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	386	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.Y380_K440del(2)|p.E386*(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCAGGTGCCTGAGAACGAGGC	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NaN	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		4	Deletion - In frame(2)|Substitution - Nonsense(1)|Unknown(1)	p.Y380_K440del(5)|p.E386*(1)	breast(3)|stomach(1)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(1156-1158)GAG>AAG		cadherin 1, type 1 preproprotein							148.0	132.0	138.0					16																	68847234		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68847234G>A	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1156G>A	16.37:g.68847234G>A	ENSP00000261769:p.Glu386Lys					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Intron	p.E386K	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	9	1280	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	386			Cadherin 3.|Extracellular (Potential).		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1156G>A	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347454	0.95807	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794	T	0.76316	-1.01	6.04	6.04	0.98038	Cadherin (4);Cadherin-like (1);	0.000000	0.51477	D	0.000088	D	0.93533	0.7936	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95206	0.8321	10	0.87932	D	0	.	20.1743	0.98175	0.0:0.0:1.0:0.0	.	386	P12830	CADH1_HUMAN	K	386	ENSP00000261769:E386K	ENSP00000261769:E386K	E	+	1	0	CDH1	67404735	1.000000	0.71417	0.983000	0.44433	0.632000	0.37999	8.638000	0.91019	2.873000	0.98535	0.561000	0.74099	GAG		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2		NM_004360		60	67	0	0	0	0.01441	0	60	67		
CLUH	23277	broad.mit.edu	37	17	2605306	2605306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:2605306C>T	ENST00000570628.2	-	4	512	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	CLUH_ENST00000538975.1_Missense_Mutation_p.R136Q|CLUH_ENST00000435359.1_Missense_Mutation_p.R136Q			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	136					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GAGCAGGTCTCGGACATGGCG	0.622																																						uc002fuy.1		NaN																	0				breast(2)	2						c.(406-408)CGA>CAA		hypothetical protein LOC23277							59.0	68.0	65.0					17																	2605306		2149	4229	6378	SO:0001583	missense	23277						binding	g.chr17:2605306C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.407G>A	17.37:g.2605306C>T	ENSP00000458986:p.Arg136Gln					KIAA0664_uc002fux.1_Missense_Mutation_p.R68Q	p.R136Q	NM_015229	NP_056044	O75153	K0664_HUMAN			4	493	-			136					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.407G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	36	5.852930	0.97030	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.86097	-2.07;-2.07	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.91439	0.7298	M	0.81497	2.545	0.80722	D	1	D;D	0.71674	0.991;0.998	P;P	0.58391	0.791;0.838	D	0.92662	0.6142	10	0.87932	D	0	.	17.8298	0.88677	0.0:1.0:0.0:0.0	.	136;136	O75153;C9J6D7	K0664_HUMAN;.	Q	136	ENSP00000388872:R136Q;ENSP00000439628:R136Q	ENSP00000320468:R136Q	R	-	2	0	KIAA0664	2552056	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	7.487000	0.81328	2.474000	0.83562	0.591000	0.81541	CGA		0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2		NM_015229		25	45	0	0	0	0.01892	0	25	45		
AIPL1	23746	broad.mit.edu	37	17	6337283	6337283	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:6337283A>G	ENST00000381129.3	-	2	312	c.232T>C	c.(232-234)Tcc>Ccc	p.S78P	AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000576776.1_Missense_Mutation_p.S78P|AIPL1_ENST00000570466.1_Missense_Mutation_p.S56P|AIPL1_ENST00000575265.1_Missense_Mutation_p.S78P|AIPL1_ENST00000574506.1_Missense_Mutation_p.S66P|AIPL1_ENST00000250087.5_Missense_Mutation_p.S78P|AIPL1_ENST00000571740.1_Missense_Mutation_p.S78P	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	78	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACCCGCATGGAGGTAAGCAGG	0.597																																						uc002gcp.2		NaN																	0					0						c.(232-234)TCC>CCC		aryl hydrocarbon receptor interacting							137.0	96.0	110.0					17																	6337283		2203	4300	6503	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6337283A>G	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.232T>C	17.37:g.6337283A>G	ENSP00000370521:p.Ser78Pro					AIPL1_uc002gcq.2_Intron|AIPL1_uc002gcr.2_Missense_Mutation_p.S78P|AIPL1_uc010clk.2_Missense_Mutation_p.S56P|AIPL1_uc010cll.2_Missense_Mutation_p.S78P|AIPL1_uc002gcs.2_Missense_Mutation_p.S78P	p.S78P	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	2	327	-			78			PPIase FKBP-type.		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.232T>C	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	A	18.57	3.653358	0.67472	.	.	ENSG00000129221	ENST00000381129;ENST00000250087;ENST00000444243	D;D	0.86097	-2.07;-2.07	5.05	5.05	0.67936	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (1);	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.83692	2.655	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.997;0.999;1.0;1.0	D;P;D;D;D	0.83275	0.996;0.885;0.996;0.982;0.995	D	0.90667	0.4595	10	0.28530	T	0.3	-36.3344	12.742	0.57257	1.0:0.0:0.0:0.0	.	78;56;78;78;78	Q659W3;Q659W4;F1T0C4;Q9NZN9-3;Q9NZN9	.;.;.;.;AIPL1_HUMAN	P	78	ENSP00000370521:S78P;ENSP00000250087:S78P	ENSP00000250087:S78P	S	-	1	0	AIPL1	6278007	1.000000	0.71417	0.999000	0.59377	0.293000	0.27360	7.027000	0.76463	1.882000	0.54519	0.528000	0.53228	TCC		0.597	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3		NM_014336		13	48	0	0	0	0.020292	0	13	48		
AATF	26574	broad.mit.edu	37	17	35343960	35343960	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:35343960C>T	ENST00000225402.5	+	5	1128	c.877C>T	c.(877-879)Cag>Tag	p.Q293*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	293	POLR2J binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GGTAGGTCTTCAGGAAGAGTT	0.413																																					NSCLC(49;901 1159 19183 41572 46244)	uc002hni.2		NaN																	0					0						c.(877-879)CAG>TAG		apoptosis antagonizing transcription factor							179.0	168.0	172.0					17																	35343960		2203	4300	6503	SO:0001587	stop_gained	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35343960C>T	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.877C>T	17.37:g.35343960C>T	ENSP00000225402:p.Gln293*					AATF_uc002hnj.2_RNA	p.Q293*	NM_012138	NP_036270	Q9NY61	AATF_HUMAN			5	1128	+		Breast(25;0.00607)	293			POLR2J binding.		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Nonsense_Mutation	SNP	ENST00000225402.5	37	c.877C>T	CCDS32632.1	.	.	.	.	.	.	.	.	.	.	C	40	8.022534	0.98616	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.96	5.96	0.96718	.	0.228496	0.47455	D	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-15.1364	18.5997	0.91244	0.0:1.0:0.0:0.0	.	.	.	.	X	293	.	ENSP00000225402:Q293X	Q	+	1	0	AATF	32418073	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.570000	0.73996	2.831000	0.97527	0.650000	0.86243	CAG		0.413	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1		NM_012138		23	70	0	0	0	0.021523	0	23	70		
CDC6	990	broad.mit.edu	37	17	38457718	38457718	+	Splice_Site	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:38457718A>G	ENST00000209728.4	+	11	1923		c.e11-1		CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GTTTCCTACCAGTTATATGAA	0.453																																						uc002huj.1		NaN																	0				ovary(2)|breast(1)	3						c.e11-2		cell division cycle 6 protein							147.0	156.0	153.0					17																	38457718		2203	4300	6503	SO:0001630	splice_region_variant	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38457718A>G	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1453-1A>G	17.37:g.38457718A>G							p.L485_splice	NM_001254	NP_001245	Q99741	CDC6_HUMAN			11	1663	+								Q8TB30	Splice_Site	SNP	ENST00000209728.4	37	c.1453_splice	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983696	0.53827	.	.	ENSG00000094804	ENST00000209728	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0097	0.71542	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC6	35711244	1.000000	0.71417	0.554000	0.28268	0.593000	0.36681	7.984000	0.88150	2.244000	0.73946	0.459000	0.35465	.		0.453	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			Intron	74	113	0	0	0	0.01441	0	74	113		
RNF213	57674	broad.mit.edu	37	17	78318808	78318808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr17:78318808C>T	ENST00000582970.1	+	29	6816	c.6673C>T	c.(6673-6675)Cag>Tag	p.Q2225*	RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q2274*|RNF213_ENST00000336301.6_Nonsense_Mutation_p.Q298*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2225					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCTGAATTATCAGCTCAGAGA	0.498																																						uc002jyh.1		NaN																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(892-894)CAG>TAG		ring finger protein 213							129.0	126.0	127.0					17																	78318808		2203	4300	6503	SO:0001587	stop_gained	57674							g.chr17:78318808C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6673C>T	17.37:g.78318808C>T	ENSP00000464087:p.Gln2225*						p.Q298*	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		4	1115	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	ENST00000582970.1	37	c.892C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	48	14.540833	0.99800	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.2535	0.93935	0.0:1.0:0.0:0.0	.	.	.	.	X	2225;2274;298	.	ENSP00000338218:Q298X	Q	+	1	0	RNF213	75933403	1.000000	0.71417	0.989000	0.46669	0.403000	0.30841	7.710000	0.84655	2.542000	0.85734	0.563000	0.77884	CAG		0.498	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914		120	141	0	0	0	0.01441	0	120	141		
PTPN2	5771	broad.mit.edu	37	18	12814236	12814236	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr18:12814236C>T	ENST00000309660.5	-	7	917	c.824G>A	c.(823-825)gGa>gAa	p.G275E	PTPN2_ENST00000327283.3_Missense_Mutation_p.G275E|PTPN2_ENST00000591497.1_Missense_Mutation_p.G246E|PTPN2_ENST00000591115.1_Missense_Mutation_p.G298E|PTPN2_ENST00000353319.4_Missense_Mutation_p.G275E	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	275	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				ACATTTTGCTCCTTCTATTAT	0.323																																						uc002krp.2		NaN																	0				skin(2)	2						c.(823-825)GGA>GAA		protein tyrosine phosphatase, non-receptor type							97.0	92.0	94.0					18																	12814236		2202	4300	6502	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12814236C>T	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.824G>A	18.37:g.12814236C>T	ENSP00000311857:p.Gly275Glu					PTPN2_uc002krl.2_Missense_Mutation_p.G275E|PTPN2_uc002krn.2_Missense_Mutation_p.G298E|PTPN2_uc002kro.2_Missense_Mutation_p.G275E|PTPN2_uc002krm.2_Missense_Mutation_p.G275E	p.G275E	NM_002828	NP_002819	P17706	PTN2_HUMAN			7	1018	-		Lung NSC(161;8.94e-06)	275			Tyrosine-protein phosphatase.		A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.824G>A	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926933	0.92319	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	T;T;T	0.04156	3.72;3.75;3.69	5.86	5.86	0.93980	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.244648	0.28683	N	0.014496	T	0.24044	0.0582	M	0.73753	2.245	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.969;0.993;0.997	D;D;P;D;D	0.74674	0.977;0.984;0.731;0.92;0.963	T	0.00050	-1.2196	10	0.87932	D	0	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	275;275;252;275;275	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	E	275;275;252;275	ENSP00000320298:G275E;ENSP00000320546:G275E;ENSP00000311857:G275E	ENSP00000311857:G275E	G	-	2	0	PTPN2	12804236	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.771000	0.95319	0.563000	0.77884	GGA		0.323	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3		NM_002828, NM_080422, NM_080423		4	51	0	0	0	0.009096	0	4	51		
INO80C	125476	broad.mit.edu	37	18	33077830	33077830	+	Silent	SNP	C	C	T	rs368532028		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr18:33077830C>T	ENST00000334598.7	-	1	125	c.9G>A	c.(7-9)gcG>gcA	p.A3A	INO80C_ENST00000590757.1_Silent_p.A3A|RP11-322E11.6_ENST00000589258.1_Silent_p.A3A|INO80C_ENST00000592173.1_Silent_p.A3A|INO80C_ENST00000441607.2_Silent_p.A3A|INO80C_ENST00000586489.1_5'Flank	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	3					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						TTGGAATTTGCGCCGCCATCG	0.607																																						uc002kyy.3		NaN																	0					0						c.(7-9)GCG>GCA		Ies6-similar protein isoform 2							31.0	30.0	30.0					18																	33077830		2203	4300	6503	SO:0001819	synonymous_variant	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33077830C>T		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.9G>A	18.37:g.33077830C>T						INO80C_uc002kyw.1_Silent_p.A3A|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Silent_p.A3A	p.A3A	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN			1	126	-			3					B4DUI4|E9PCS7|Q86WR1|Q8N994	Silent	SNP	ENST00000334598.7	37	c.9G>A	CCDS11914.1																																																																																				0.607	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1		NM_194281		15	23	0	0	0	0.007413	0	15	23		
DOT1L	84444	broad.mit.edu	37	19	2213964	2213964	+	Silent	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:2213964C>A	ENST00000398665.3	+	18	1812	c.1776C>A	c.(1774-1776)ctC>ctA	p.L592L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	592					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGCGCGCTCCGCGGCCAGA	0.672																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1774-1776)CTC>CTA		DOT1-like, histone H3 methyltransferase							21.0	24.0	23.0					19																	2213964		2029	4187	6216	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2213964C>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1776C>A	19.37:g.2213964C>A						DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	p.L592L	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	18	1812	+		Hepatocellular(1079;0.137)	592					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1776C>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	0.180	-1.063218	0.01950	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.76	-5.27	0.02763	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60801	-0.7191	4	.	.	.	-16.1906	13.2357	0.59969	0.0735:0.7258:0.1184:0.0823	.	.	.	.	Y	379	.	.	S	+	2	0	DOT1L	2164964	0.998000	0.40836	0.000000	0.03702	0.002000	0.02628	0.415000	0.21181	-1.537000	0.01736	-2.739000	0.00128	TCC		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		59	61	1	0	3.00063e-23	0.01441	3.11997e-23	59	61		
DOT1L	84444	broad.mit.edu	37	19	2222507	2222507	+	Silent	SNP	C	C	T	rs372739050		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:2222507C>T	ENST00000398665.3	+	24	3375	c.3339C>T	c.(3337-3339)gtC>gtT	p.V1113V		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1113					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGTCCGTCGCTGGCCTTT	0.687																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(3337-3339)GTC>GTT		DOT1-like, histone H3 methyltransferase		C		1,3511		0,1,1755	12.0	13.0	13.0		3339	-9.5	0.0	19		13	0,7516		0,0,3758	no	coding-synonymous	DOT1L	NM_032482.2		0,1,5513	TT,TC,CC		0.0,0.0285,0.0091		1113/1538	2222507	1,11027	1756	3758	5514	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222507C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3339C>T	19.37:g.2222507C>T						DOT1L_uc002lvc.1_Silent_p.V407V|DOT1L_uc002lve.1_3'UTR	p.V1113V	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3375	+		Hepatocellular(1079;0.137)	1113					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.3339C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	1.674	-0.508168	0.04231	2.85E-4	0.0	ENSG00000104885	ENST00000440640	.	.	.	4.74	-9.47	0.00594	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.33033	-0.9884	4	.	.	.	-22.6271	11.1611	0.48516	0.0:0.1148:0.2801:0.6051	.	.	.	.	L	900	.	.	S	+	2	0	DOT1L	2173507	0.002000	0.14202	0.003000	0.11579	0.227000	0.25037	-1.657000	0.01979	-2.932000	0.00300	-0.502000	0.04539	TCG		0.687	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		37	40	0	0	0	0.010771	0	37	40		
TJP3	27134	broad.mit.edu	37	19	3747941	3747941	+	Silent	SNP	C	C	T	rs142779832		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:3747941C>T	ENST00000541714.2	+	19	2934	c.2472C>T	c.(2470-2472)gaC>gaT	p.D824D	TJP3_ENST00000382008.3_Silent_p.D838D|TJP3_ENST00000539908.2_Silent_p.D788D|TJP3_ENST00000589378.1_Silent_p.D833D|TJP3_ENST00000262968.9_Silent_p.D857D|TJP3_ENST00000587686.1_Silent_p.D843D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	824					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTACACAGACGGCGAGGGGG	0.697																																						uc010xhv.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2569-2571)GAC>GAT		tight junction protein 3		C		0,4398		0,0,2199	29.0	28.0	28.0		2571	-2.7	1.0	19	dbSNP_134	28	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	TJP3	NM_014428.1		0,2,6496	TT,TC,CC		0.0233,0.0,0.0154		857/953	3747941	2,12994	2199	4299	6498	SO:0001819	synonymous_variant	27134					tight junction	protein binding	g.chr19:3747941C>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2472C>T	19.37:g.3747941C>T						TJP3_uc010xhs.1_Silent_p.D824D|TJP3_uc010xht.1_Silent_p.D788D|TJP3_uc010xhu.1_Silent_p.D833D|TJP3_uc010xhw.1_Silent_p.D843D	p.D857D	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2571	+			838					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	ENST00000541714.2	37	c.2571C>T	CCDS32873.2																																																																																				0.697	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1				31	60	0	0	0	0.010818	0	31	60		
PLIN4	729359	broad.mit.edu	37	19	4501319	4501319	+	IGR	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:4501319G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Missense_Mutation_p.D641N|HDGFRP2_ENST00000586684.1_Missense_Mutation_p.D641N	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTCCTCTGAAGACCTGCACGA	0.672																																						uc002mao.2		NaN																	0					0						c.(1906-1908)GAC>AAC		hepatoma-derived growth factor-related protein 2							46.0	58.0	54.0					19																	4501319		2058	4201	6259	SO:0001628	intergenic_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4501319G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4501319G>A						HDGFRP2_uc002map.2_Missense_Mutation_p.D636N|HDGFRP2_uc010dua.2_Intron|HDGFRP2_uc002maq.1_Missense_Mutation_p.D106N	p.D636N	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			16	1999	+			636					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1906G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179852	0.57800	.	.	ENSG00000167674	ENST00000301284	T	0.49432	0.78	3.96	3.96	0.45880	.	0.394292	0.25433	N	0.030703	T	0.42832	0.1220	N	0.19112	0.55	0.25344	N	0.988925	D;P	0.57257	0.979;0.455	P;B	0.53518	0.728;0.104	T	0.24012	-1.0172	10	0.42905	T	0.14	.	11.363	0.49655	0.0:0.0:1.0:0.0	.	636;641	Q7Z4V5-2;C9JEE1	.;.	N	641	ENSP00000301284:D641N	ENSP00000301284:D641N	D	+	1	0	AC011498.1	4452319	1.000000	0.71417	0.479000	0.27329	0.794000	0.44872	3.892000	0.56235	2.035000	0.60131	0.462000	0.41574	GAC		0.672	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1		XM_170901		50	81	0	0	0	0.01441	0	50	81		
RFX2	5990	broad.mit.edu	37	19	6007099	6007099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:6007099C>T	ENST00000303657.5	-	12	1475	c.1326G>A	c.(1324-1326)tgG>tgA	p.W442*	RFX2_ENST00000359161.3_Nonsense_Mutation_p.W442*|RFX2_ENST00000592546.1_Nonsense_Mutation_p.W417*|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTCCTCATCCACCTGAGGA	0.657																																					Colon(38;171 817 19800 47433 48051)	uc002meb.2		NaN																	0				breast(4)|ovary(1)|skin(1)	6						c.(1324-1326)TGG>TGA		regulatory factor X2 isoform a							76.0	75.0	75.0					19																	6007099		2203	4300	6503	SO:0001587	stop_gained	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6007099C>T		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1326G>A	19.37:g.6007099C>T	ENSP00000306335:p.Trp442*					RFX2_uc002mec.2_Nonsense_Mutation_p.W417*|RFX2_uc002med.1_3'UTR	p.W442*	NM_000635	NP_000626	P48378	RFX2_HUMAN			12	1595	-			442					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Nonsense_Mutation	SNP	ENST00000303657.5	37	c.1326G>A	CCDS12157.1	.	.	.	.	.	.	.	.	.	.	C	39	7.505791	0.98325	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	.	.	.	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9526	15.0855	0.72148	0.0:1.0:0.0:0.0	.	.	.	.	X	442;417;229	.	ENSP00000306335:W442X	W	-	3	0	RFX2	5958099	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	7.571000	0.82399	1.948000	0.56530	0.655000	0.94253	TGG		0.657	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1		NM_000635		67	98	0	0	0	0.01441	0	67	98		
GPR108	56927	broad.mit.edu	37	19	6735965	6735965	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:6735965C>G	ENST00000264080.7	-	3	271	c.245G>C	c.(244-246)gGg>gCg	p.G82A	TRIP10_ENST00000600428.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	82						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GAGACTGAACCCCACCTGGTG	0.562											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mfp.2		NaN																	0					0						c.(244-246)GGG>GCG		G protein-coupled receptor 108 isoform 1							31.0	35.0	34.0					19																	6735965		1868	4100	5968	SO:0001583	missense	56927					integral to membrane		g.chr19:6735965C>G		CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.245G>C	19.37:g.6735965C>G	ENSP00000264080:p.Gly82Ala		OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	636	GPR108_uc002mfn.2_5'UTR|GPR108_uc002mfo.3_5'UTR|GPR108_uc010duw.2_RNA	p.G82A	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN			3	291	-			82					B9EJD7	Missense_Mutation	SNP	ENST00000264080.7	37	c.245G>C	CCDS42479.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771451	0.69992	.	.	ENSG00000125734	ENST00000264080	T	0.77489	-1.1	4.23	4.23	0.50019	.	0.000000	0.64402	U	0.000018	D	0.87700	0.6243	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89354	0.3663	10	0.87932	D	0	-13.2605	12.4438	0.55639	0.0:1.0:0.0:0.0	.	82	Q9NPR9	GP108_HUMAN	A	82	ENSP00000264080:G82A	ENSP00000264080:G82A	G	-	2	0	GPR108	6686965	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.250000	0.58772	2.063000	0.61619	0.313000	0.20887	GGG		0.562	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2				14	47	0	0	0	0.028581	0	14	47		
MUC16	94025	broad.mit.edu	37	19	9076763	9076763	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:9076763C>T	ENST00000397910.4	-	3	10886	c.10683G>A	c.(10681-10683)atG>atA	p.M3561I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3562	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATGGTACTCATACCCACTT	0.542											OREG0007306	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(10681-10683)ATG>ATA		mucin 16							212.0	207.0	209.0					19																	9076763		2121	4231	6352	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076763C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10683G>A	19.37:g.9076763C>T	ENSP00000381008:p.Met3561Ile		OREG0007306	type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	654		p.M3561I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	10887	-			3562			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10683G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.788	-0.044199	0.07452	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	1.76	-2.68	0.06041	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.45702	-0.9243	8	0.87932	D	0	.	4.1985	0.10455	0.0:0.3607:0.4691:0.1702	.	3561	B5ME49	.	I	3561	ENSP00000381008:M3561I	ENSP00000381008:M3561I	M	-	3	0	MUC16	8937763	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.795000	0.04580	-0.566000	0.06054	0.313000	0.20887	ATG		0.542	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		14	143	0	0	0	0.024245	0	14	143		
ICAM5	7087	broad.mit.edu	37	19	10403332	10403332	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:10403332G>A	ENST00000221980.4	+	5	1069	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	336					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CAGCGTCTCCGAGGGGCAGAT	0.657																																						uc002mnu.3		NaN																	0				breast(3)	3						c.(1006-1008)GAG>AAG		intercellular adhesion molecule 5 precursor							33.0	33.0	33.0					19																	10403332		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10403332G>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1006G>A	19.37:g.10403332G>A	ENSP00000221980:p.Glu336Lys					ICAM5_uc002mnv.3_Missense_Mutation_p.E211K	p.E336K	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		5	1071	+			336			Extracellular (Potential).		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1006G>A	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173546	0.94807	.	.	ENSG00000105376	ENST00000221980	T	0.06449	3.3	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000009	T	0.18718	0.0449	M	0.87547	2.89	0.39272	D	0.9644	D	0.54047	0.964	P	0.47864	0.559	T	0.02378	-1.1168	10	0.52906	T	0.07	-31.479	15.2608	0.73621	0.0:0.0:1.0:0.0	.	336	Q9UMF0	ICAM5_HUMAN	K	336	ENSP00000221980:E336K	ENSP00000221980:E336K	E	+	1	0	ICAM5	10264332	0.999000	0.42202	0.956000	0.39512	0.651000	0.38670	3.599000	0.54045	2.686000	0.91538	0.561000	0.74099	GAG		0.657	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1		NM_003259		36	55	0	0	0	0.017118	0	36	55		
EPS15L1	58513	broad.mit.edu	37	19	16532171	16532171	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:16532171G>A	ENST00000248070.6	-	10	1048	c.909C>T	c.(907-909)ttC>ttT	p.F303F	EPS15L1_ENST00000597937.1_Silent_p.F303F|EPS15L1_ENST00000455140.2_Silent_p.F303F|EPS15L1_ENST00000594975.1_Silent_p.F303F|EPS15L1_ENST00000602009.1_Silent_p.F149F|EPS15L1_ENST00000535753.2_Silent_p.F303F	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	303	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCGAGTGCATGAAGATCTCCT	0.577																																						uc002ndz.1		NaN																	0				ovary(3)|skin(2)	5						c.(907-909)TTC>TTT		epidermal growth factor receptor pathway							142.0	119.0	127.0					19																	16532171		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16532171G>A	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.909C>T	19.37:g.16532171G>A						EPS15L1_uc002ndx.2_Silent_p.F303F|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.F193F|EPS15L1_uc010xpf.1_Silent_p.F206F|EPS15L1_uc002nea.1_Silent_p.F303F|EPS15L1_uc010eah.1_Silent_p.F303F|EPS15L1_uc002neb.1_Silent_p.F149F|EPS15L1_uc002nec.1_Silent_p.F303F	p.F303F	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			10	915	-			303			EH 3.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.909C>T	CCDS32944.1																																																																																				0.577	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1		NM_021235		48	43	0	0	0	0.01441	0	48	43		
FCHO1	23149	broad.mit.edu	37	19	17897393	17897393	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:17897393G>A	ENST00000596536.1	+	27	2720	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	FCHO1_ENST00000595033.1_Missense_Mutation_p.E763K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E813K|FCHO1_ENST00000600676.1_Missense_Mutation_p.E813K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E813K|FCHO1_ENST00000594202.1_Missense_Mutation_p.E813K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E820K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E813K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E813K	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	813	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAACCTGGAGGAGAAGCGGCT	0.612																																						uc010ebb.2		NaN																	0				breast(1)	1						c.(2437-2439)GAG>AAG		FCH domain only 1 isoform b							55.0	58.0	57.0					19																	17897393		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17897393G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2437G>A	19.37:g.17897393G>A	ENSP00000470731:p.Glu813Lys					FCHO1_uc002nhg.3_Missense_Mutation_p.E813K|FCHO1_uc002nhh.2_Missense_Mutation_p.E813K|FCHO1_uc010xpw.1_Missense_Mutation_p.E763K|FCHO1_uc002nhi.2_Missense_Mutation_p.E269K|FCHO1_uc002nhj.2_Missense_Mutation_p.E157K	p.E813K	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			26	2626	+			813					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2437G>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659688	0.67586	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.37915	1.17;1.17;1.17	3.83	3.83	0.44106	Muniscin C-terminal mu homology domain (1);	0.219201	0.37136	N	0.002230	T	0.46425	0.1392	L	0.36672	1.1	0.51233	D	0.999916	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.994	T	0.31138	-0.9954	10	0.38643	T	0.18	-23.8146	11.4151	0.49947	0.0:0.0:1.0:0.0	.	813;813	O14526;O14526-2	FCHO1_HUMAN;.	K	813	ENSP00000252771:E813K;ENSP00000373785:E813K;ENSP00000437978:E813K	ENSP00000252771:E813K	E	+	1	0	FCHO1	17758393	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	6.758000	0.74929	2.170000	0.68504	0.491000	0.48974	GAG		0.612	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2		NM_015122		17	25	0	0	0	0.00499	0	17	25		
ZNF155	7711	broad.mit.edu	37	19	44501575	44501575	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:44501575G>C	ENST00000270014.2	+	5	1694	c.1566G>C	c.(1564-1566)aaG>aaC	p.K522N	RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.K533N|ZNF155_ENST00000590615.1_Missense_Mutation_p.K522N|RP11-15A1.7_ENST00000589021.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	522					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(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GACGCTACAAGAGGCGCTTGA	0.403																																					NSCLC(61;554 1277 20909 42067 42312)	uc002oxy.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1564-1566)AAG>AAC		zinc finger protein 155							74.0	74.0	74.0					19																	44501575		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44501575G>C	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1566G>C	19.37:g.44501575G>C	ENSP00000270014:p.Lys522Asn					ZNF155_uc002oxz.1_Missense_Mutation_p.K522N|ZNF155_uc010xwt.1_Missense_Mutation_p.K533N|uc010ejc.1_RNA	p.K522N	NM_003445	NP_003436	Q12901	ZN155_HUMAN			5	1771	+		Prostate(69;0.0352)	522					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.1566G>C	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	G	1.551	-0.539131	0.04053	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.05925	3.38;3.37	2.52	0.083	0.14431	.	.	.	.	.	T	0.02649	0.0080	N	0.11651	0.15	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.002	T	0.48175	-0.9058	9	0.07990	T	0.79	.	4.8312	0.13441	0.0:0.2412:0.5115:0.2473	.	533;522	B4DM95;Q12901	.;ZN155_HUMAN	N	533;522	ENSP00000385163:K533N;ENSP00000270014:K522N	ENSP00000270014:K522N	K	+	3	2	ZNF155	49193415	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	0.082000	0.14847	-0.031000	0.13781	-0.304000	0.09214	AAG		0.403	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1		NM_003445		38	68	0	0	0	0.023175	0	38	68		
RPL18	6141	broad.mit.edu	37	19	49119427	49119427	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:49119427G>A	ENST00000549920.1	-	5	722	c.330C>T	c.(328-330)cgC>cgT	p.R110R	FAM83E_ENST00000263266.3_5'Flank|RPL18_ENST00000550645.1_Intron|FAM83E_ENST00000595110.1_5'Flank|RPL18_ENST00000552588.1_Silent_p.R81R|RPL18_ENST00000549273.1_Silent_p.R110R	NM_000979.3	NP_000970.1	Q07020	RL18_HUMAN	ribosomal protein L18	110					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		GGATGCGGCTGCGGGCCCGGC	0.667																																						uc002pjq.1		NaN																	0					0						c.(328-330)CGC>CGT		ribosomal protein L18							52.0	52.0	52.0					19																	49119427		2203	4300	6503	SO:0001819	synonymous_variant	6141				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr19:49119427G>A	L11566	CCDS12726.1, CCDS58669.1	19q13	2011-04-06				ENSG00000063177		"""L ribosomal proteins"""	10310	protein-coding gene	gene with protein product	"""60S ribosomal protein L18"""	604179				8218404	Standard	NM_000979		Approved	L18	uc002pjq.2	Q07020	OTTHUMG00000169760	ENST00000549920.1:c.330C>T	19.37:g.49119427G>A						FAM83E_uc002pjn.2_5'Flank|RPL18_uc002pjp.1_Silent_p.R58R|RPL18_uc010xzs.1_3'UTR	p.R110R	NM_000979	NP_000970	Q07020	RL18_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)	5	363	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	110					F8VWC5|Q8WTZ6	Silent	SNP	ENST00000549920.1	37	c.330C>T	CCDS12726.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978730	0.34942	.	.	ENSG00000063177	ENST00000084795;ENST00000546623	.	.	.	4.99	-4.76	0.03229	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.556	1.3782	0.02225	0.2606:0.3182:0.262:0.1592	.	.	.	.	X	112;89	.	.	Q	-	1	0	RPL18	53811239	0.654000	0.27367	0.987000	0.45799	0.963000	0.63663	-0.340000	0.07821	-0.466000	0.06943	0.467000	0.42956	CAG		0.667	RPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405732.2		NM_000979		76	86	0	0	0	0.01441	0	76	86		
PRKCG	5582	broad.mit.edu	37	19	54403679	54403679	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:54403679C>T	ENST00000263431.3	+	13	1662	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	PRKCG_ENST00000542049.1_Silent_p.Y347Y|PRKCG_ENST00000540413.1_Silent_p.Y460Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCAGGTTCTACGCGGCAGAAA	0.597																																						uc002qcq.1		NaN																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1378-1380)TAC>TAT		protein kinase C, gamma							58.0	60.0	59.0					19																	54403679		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403679C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1380C>T	19.37:g.54403679C>T						PRKCG_uc010yeg.1_Silent_p.Y460Y|PRKCG_uc010yeh.1_Silent_p.Y347Y	p.Y460Y	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	13	1662	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		460			Protein kinase.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.1380C>T	CCDS12867.1																																																																																				0.597	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3		NM_002739		25	92	0	0	0	0.00632	0	25	92		
HSPBP1	23640	broad.mit.edu	37	19	55773977	55773977	+	Nonstop_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:55773977C>G	ENST00000255631.5	-	9	1389	c.1079G>C	c.(1078-1080)tGa>tCa	p.*360S	HSPBP1_ENST00000376343.3_Nonstop_Mutation_p.*258S|HSPBP1_ENST00000587922.1_Nonstop_Mutation_p.*360S|HSPBP1_ENST00000433386.2_Nonstop_Mutation_p.*360S	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	0					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTGGTTTCACCGATCCAT	0.622																																						uc002qjx.2		NaN																	0					0						c.(1216-1218)TGA>TCA		hsp70-interacting protein							72.0	55.0	61.0					19																	55773977		2203	4300	6503	SO:0001578	stop_lost	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55773977C>G		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.1079G>C	19.37:g.55773977C>G						HSPBP1_uc002qjy.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkb.2_3'UTR|HSPBP1_uc002qka.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkd.2_Nonstop_Mutation_p.*360S|HSPBP1_uc002qkc.2_Nonstop_Mutation_p.*360S	p.*406S	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	7	1327	-			406					B3KQP0|B4DG11|O95351|Q6ZNU5	Nonstop_Mutation	SNP	ENST00000255631.5	37	c.1217G>C	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831860	0.32421	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1048	0.72312	0.0:1.0:0.0:0.0	.	.	.	.	S	360;360;258	.	.	X	-	2	2	HSPBP1	60465789	1.000000	0.71417	0.999000	0.59377	0.565000	0.35776	3.492000	0.53259	2.238000	0.73509	0.305000	0.20034	TGA		0.622	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1		NM_012267		14	21	0	0	0	0.024245	0	14	21		
ZNF667	63934	broad.mit.edu	37	19	56969551	56969551	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:56969551C>A	ENST00000504904.3	-	6	945	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF667_ENST00000342634.3_Nonsense_Mutation_p.E169*|ZNF667_ENST00000292069.6_Nonsense_Mutation_p.E76*|ZNF667_ENST00000591790.1_Nonsense_Mutation_p.E76*			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	76	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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTTACTGGCTCTACCATCCAG	0.473																																						uc002qnd.2		NaN																	0				pancreas(1)	1						c.(226-228)GAG>TAG		zinc finger protein 667							115.0	96.0	103.0					19																	56969551		2203	4300	6503	SO:0001587	stop_gained	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56969551C>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.226G>T	19.37:g.56969551C>A	ENSP00000439402:p.Glu76*					ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Nonsense_Mutation_p.E76*|ZNF667_uc010etm.2_5'UTR	p.E76*	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	4	388	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	76			KRAB.		B2RMS6|B9EK36|Q6B093|Q9H807	Nonsense_Mutation	SNP	ENST00000504904.3	37	c.226G>T	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364395	0.95877	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	.	.	.	3.95	2.92	0.33932	.	0.507507	0.16561	N	0.209059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-3.8776	7.5226	0.27637	0.0:0.8841:0.0:0.1159	.	.	.	.	X	169;76;76	.	ENSP00000292069:E76X	E	-	1	0	ZNF667	61661363	0.000000	0.05858	0.011000	0.14972	0.925000	0.55904	0.244000	0.18124	1.260000	0.44134	0.491000	0.48974	GAG		0.473	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1		NM_022103		18	40	1	0	6.49762e-13	0.006122	6.68014e-13	18	40		
ZNF548	147694	broad.mit.edu	37	19	57910375	57910375	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:57910375C>T	ENST00000366197.5	+	3	970	c.720C>T	c.(718-720)ttC>ttT	p.F240F	ZNF548_ENST00000336128.7_Silent_p.F252F|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCCAATTTCATGAAACATC	0.393																																						uc002qom.2		NaN																	0				breast(1)	1						c.(718-720)TTC>TTT		zinc finger protein 548							47.0	48.0	47.0					19																	57910375		2158	4278	6436	SO:0001819	synonymous_variant	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910375C>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.720C>T	19.37:g.57910375C>T						ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Silent_p.F243F	p.F240F	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	970	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	240			C2H2-type 2.		Q96M05	Silent	SNP	ENST00000366197.5	37	c.720C>T	CCDS46209.1																																																																																				0.393	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1		NM_152909		23	37	0	0	0	0.014323	0	23	37		
EMILIN1	11117	broad.mit.edu	37	2	27301966	27301966	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:27301966C>G	ENST00000380320.4	+	1	532	c.33C>G	c.(31-33)ctC>ctG	p.L11L		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	11					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCTACCTCTGCTGCCTGC	0.726																																						uc002rii.3		NaN																	0				pancreas(1)	1						c.(31-33)CTC>CTG		elastin microfibril interfacer 1 precursor							9.0	13.0	12.0					2																	27301966		2099	4143	6242	SO:0001819	synonymous_variant	11117				cell adhesion	collagen		g.chr2:27301966C>G	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.33C>G	2.37:g.27301966C>G						EMILIN1_uc010eyq.1_Silent_p.L11L	p.L11L	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			1	461	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		11					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Silent	SNP	ENST00000380320.4	37	c.33C>G	CCDS1733.1																																																																																				0.726	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1		NM_007046		15	15	0	0	0	0.010504	0	15	15		
EMILIN1	11117	broad.mit.edu	37	2	27302012	27302012	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:27302012C>G	ENST00000380320.4	+	1	578	c.79C>G	c.(79-81)Cga>Gga	p.R27G		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	27					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCCTCCTCGAGGTTTCAG	0.716																																						uc002rii.3		NaN																	0				pancreas(1)	1						c.(79-81)CGA>GGA		elastin microfibril interfacer 1 precursor							9.0	12.0	11.0					2																	27302012		2174	4269	6443	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27302012C>G	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.79C>G	2.37:g.27302012C>G	ENSP00000369677:p.Arg27Gly					EMILIN1_uc010eyq.1_Missense_Mutation_p.R27G	p.R27G	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			1	507	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		27					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.79C>G	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840222	0.51057	.	.	ENSG00000138080	ENST00000380320	T	0.64438	-0.1	4.59	3.69	0.42338	.	0.343115	0.24328	N	0.039482	T	0.45498	0.1345	L	0.27053	0.805	0.33287	D	0.56299	P	0.47034	0.889	B	0.36989	0.238	T	0.59621	-0.7420	10	0.45353	T	0.12	-9.2588	12.5297	0.56106	0.0:0.8303:0.1697:0.0	.	27	Q9Y6C2	EMIL1_HUMAN	G	27	ENSP00000369677:R27G	ENSP00000369677:R27G	R	+	1	2	EMILIN1	27155516	1.000000	0.71417	0.969000	0.41365	0.510000	0.34073	3.008000	0.49544	1.029000	0.39812	0.462000	0.41574	CGA		0.716	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1		NM_007046		16	14	0	0	0	0.006122	0	16	14		
REEP1	65055	broad.mit.edu	37	2	86459784	86459784	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:86459784T>A	ENST00000165698.5	-	6	702	c.559A>T	c.(559-561)Atg>Ttg	p.M187L	REEP1_ENST00000538924.1_Missense_Mutation_p.M194L|REEP1_ENST00000535845.1_Missense_Mutation_p.M160L|REEP1_ENST00000541910.1_Missense_Mutation_p.R108S|REEP1_ENST00000473407.1_5'Flank|REEP1_ENST00000540790.1_Missense_Mutation_p.M166L	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	187					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTCCTGGACATCTTAGGCTGG	0.647																																						uc002srh.3		NaN																	0					0						c.(559-561)ATG>TTG		receptor accessory protein 1 isoform 2							58.0	48.0	51.0					2																	86459784		2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459784T>A	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.559A>T	2.37:g.86459784T>A	ENSP00000165698:p.Met187Leu					REEP1_uc010ytg.1_Missense_Mutation_p.M166L|REEP1_uc010yth.1_Missense_Mutation_p.M160L|REEP1_uc010yti.1_Missense_Mutation_p.R108S	p.M187L	NM_022912	NP_075063	Q9H902	REEP1_HUMAN			6	703	-			187					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.559A>T	CCDS1989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.28|15.28	2.786691|2.786691	0.49997|0.49997	.|.	.|.	ENSG00000068615|ENSG00000068615	ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790|ENST00000541910;ENST00000437769	D;D;T;T|D;D	0.86366|0.94758	-2.08;-2.11;-1.25;-1.24|-3.51;-3.45	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.207326|.	0.51477|.	D|.	0.000083|.	D|D	0.89125|0.89125	0.6626|0.6626	L|L	0.36672|0.36672	1.1|1.1	0.28137|0.28137	N|N	0.929955|0.929955	B;B;B|P	0.02656|0.43094	0.0;0.0;0.0|0.799	B;B;B|B	0.04013|0.35931	0.0;0.001;0.0|0.214	D|D	0.83873|0.83873	0.0275|0.0275	10|9	0.21540|0.37606	T|T	0.41|0.19	.|.	8.4542|8.4542	0.32888|0.32888	0.0:0.0871:0.0:0.9129|0.0:0.0871:0.0:0.9129	.|.	160;166;187|108	B7Z5R9;F5H7Z9;Q9H902|B7Z4D7	.;.;REEP1_HUMAN|.	L|S	187;194;160;166|108	ENSP00000165698:M187L;ENSP00000438346:M194L;ENSP00000437567:M160L;ENSP00000443831:M166L|ENSP00000442681:R108S;ENSP00000401140:R108S	ENSP00000165698:M187L|ENSP00000401140:R108S	M|R	-|-	1|3	0|2	REEP1|REEP1	86313295|86313295	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.004000|2.004000	0.40854|0.40854	2.205000|2.205000	0.71048|0.71048	0.533000|0.533000	0.62120|0.62120	ATG|AGA		0.647	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2		NM_022912		25	31	0	0	0	0.027356	0	25	31		
SH3RF3	344558	broad.mit.edu	37	2	110015235	110015235	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:110015235C>T	ENST00000309415.6	+	4	1135	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	379							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CACCAAGAAACGCCACTCCTT	0.597																																						uc010ywt.1		NaN																	0				ovary(1)	1						c.(1135-1137)CGC>TGC		SH3 domain containing ring finger 3							54.0	64.0	61.0					2																	110015235		2201	4300	6501	SO:0001583	missense	344558						zinc ion binding	g.chr2:110015235C>T	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1135C>T	2.37:g.110015235C>T	ENSP00000309186:p.Arg379Cys						p.R379C	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			4	1135	+			379					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1135C>T		.	.	.	.	.	.	.	.	.	.	C	22.2	4.262258	0.80358	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.10005	2.92;2.92	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.33990	0.0882	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.08493	-1.0719	9	0.66056	D	0.02	-33.004	18.1439	0.89649	0.0:1.0:0.0:0.0	.	379	Q8TEJ3	SH3R3_HUMAN	C	379	ENSP00000414997:R379C;ENSP00000309186:R379C	ENSP00000309186:R379C	R	+	1	0	SH3RF3	109381667	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.338000	0.59316	2.522000	0.85027	0.561000	0.74099	CGC		0.597	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001099289		16	40	0	0	0	0.024245	0	16	40		
CCDC93	54520	broad.mit.edu	37	2	118731529	118731529	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:118731529G>C	ENST00000376300.2	-	11	980	c.843C>G	c.(841-843)ctC>ctG	p.L281L	CCDC93_ENST00000319432.5_Silent_p.L280L|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	281										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CAGCAGAGCAGAGTCCCACAA	0.542																																						uc002tlj.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(841-843)CTC>CTG		coiled-coil domain containing 93							62.0	57.0	59.0					2																	118731529		2203	4300	6503	SO:0001819	synonymous_variant	54520							g.chr2:118731529G>C	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.843C>G	2.37:g.118731529G>C						CCDC93_uc010fld.1_Silent_p.L281L	p.L281L	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			11	969	-			281			Potential.		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Silent	SNP	ENST00000376300.2	37	c.843C>G	CCDS2121.2																																																																																				0.542	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1		NM_019044		11	17	0	0	0	0.016723	0	11	17		
UBXN4	23190	broad.mit.edu	37	2	136519444	136519444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:136519444C>T	ENST00000272638.9	+	6	876	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	UBXN4_ENST00000490163.1_Intron	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	189					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ATGCTCAGATCAGAGACCTGC	0.388																																						uc002tur.2		NaN																	0				skin(2)	2						c.(565-567)CAG>TAG		UBX domain containing 2							57.0	63.0	61.0					2																	136519444		1866	4093	5959	SO:0001587	stop_gained	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136519444C>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.565C>T	2.37:g.136519444C>T	ENSP00000272638:p.Gln189*					UBXN4_uc002tus.2_Intron	p.Q189*	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			6	876	+			189			Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Nonsense_Mutation	SNP	ENST00000272638.9	37	c.565C>T	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661995	0.88251	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	.	.	.	5.12	3.2	0.36748	.	0.918303	0.09174	N	0.838444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	7.3921	0.26915	0.1879:0.6305:0.1816:0.0	.	.	.	.	X	189;171	.	ENSP00000272638:Q189X	Q	+	1	0	UBXN4	136235914	1.000000	0.71417	0.992000	0.48379	0.919000	0.55068	1.018000	0.30002	2.542000	0.85734	0.655000	0.94253	CAG		0.388	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1		NM_014607		19	26	0	0	0	0.016522	0	19	26		
FAP	2191	broad.mit.edu	37	2	163029727	163029727	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:163029727G>C	ENST00000188790.4	-	24	2246	c.2039C>G	c.(2038-2040)tCa>tGa	p.S680*	AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Nonsense_Mutation_p.S655*	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CATCACAGTTGAATTCTGGAA	0.348																																						uc002ucd.2		NaN																	0				ovary(3)	3						c.(2038-2040)TCA>TGA		fibroblast activation protein, alpha subunit							94.0	94.0	94.0					2																	163029727		2203	4300	6503	SO:0001587	stop_gained	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163029727G>C	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2039C>G	2.37:g.163029727G>C	ENSP00000188790:p.Ser680*					FAP_uc010fpc.2_Nonsense_Mutation_p.S229*|FAP_uc010zct.1_Nonsense_Mutation_p.S655*|FAP_uc010fpd.2_Nonsense_Mutation_p.S159*	p.S680*	NM_004460	NP_004451	Q12884	SEPR_HUMAN			24	2247	-			680			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000188790.4	37	c.2039C>G	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886513	0.72410	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.9466	20.024	0.97514	0.0:0.0:1.0:0.0	.	.	.	.	X	680;655	.	ENSP00000188790:S680X	S	-	2	0	FAP	162737973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.995000	0.93534	2.809000	0.96659	0.655000	0.94253	TCA		0.348	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2				34	55	0	0	0	0.019004	0	34	55		
UBR3	130507	broad.mit.edu	37	2	170917627	170917627	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr2:170917627G>A	ENST00000272793.5	+	34	4874	c.4824G>A	c.(4822-4824)ctG>ctA	p.L1608L	UBR3_ENST00000392631.1_Silent_p.L429L|UBR3_ENST00000418381.1_Silent_p.L1608L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1608					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AAGTATTACTGAGCTTTGTGA	0.318																																						uc010zdi.1		NaN																	0					0						c.(4822-4824)CTG>CTA		E3 ubiquitin-protein ligase UBR3							82.0	87.0	85.0					2																	170917627		2203	4298	6501	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170917627G>A	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4824G>A	2.37:g.170917627G>A						UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.L429L|UBR3_uc002uft.3_Silent_p.L465L|UBR3_uc010zdj.1_Silent_p.L299L|UBR3_uc002ufu.3_Silent_p.L114L	p.L1608L	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			34	4824	+			1608					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.4824G>A																																																																																					0.318	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2		NM_172070		8	90	0	0	0	0.004482	0	8	90		
CENPB	1059	broad.mit.edu	37	20	3765860	3765860	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:3765860T>A	ENST00000379751.4	-	1	1477	c.1271A>T	c.(1270-1272)gAa>gTa	p.E424V	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	424	Glu-rich (acidic).				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ctcctcctcttcctctccttc	0.582																																						uc002wjk.2		NaN																	0					0						c.(1270-1272)GAA>GTA		centromere protein B							134.0	105.0	115.0					20																	3765860		2198	4295	6493	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3765860T>A	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.1271A>T	20.37:g.3765860T>A	ENSP00000369075:p.Glu424Val					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.E424V	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	1478	-			424			Glu-rich (acidic).		Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.1271A>T	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	t	12.96	2.094764	0.36952	.	.	ENSG00000125817	ENST00000379751	T	0.09350	2.99	4.41	4.41	0.53225	.	.	.	.	.	T	0.15565	0.0375	N	0.14661	0.345	0.30946	N	0.725251	D	0.71674	0.998	D	0.73708	0.981	T	0.06215	-1.0839	9	0.37606	T	0.19	-7.1632	10.0663	0.42306	0.0:0.0:0.0:1.0	.	424	P07199	CENPB_HUMAN	V	424	ENSP00000369075:E424V	ENSP00000369075:E424V	E	-	2	0	CENPB	3713860	0.862000	0.29867	1.000000	0.80357	0.889000	0.51656	1.727000	0.38095	1.625000	0.50366	0.439000	0.28862	GAA		0.582	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2		NM_001810		18	37	0	0	0	0.00499	0	18	37		
CHD6	84181	broad.mit.edu	37	20	40049283	40049283	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:40049283C>G	ENST00000373233.3	-	31	6169	c.5992G>C	c.(5992-5994)Gaa>Caa	p.E1998Q		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1998					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCAAGGTTCTTTTAAAAGC	0.418																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5992-5994)GAA>CAA		chromodomain helicase DNA binding protein 6							99.0	99.0	99.0					20																	40049283		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049283C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5992G>C	20.37:g.40049283C>G	ENSP00000362330:p.Glu1998Gln						p.E1998Q	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	6170	-		Myeloproliferative disorder(115;0.00425)	1998					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.5992G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067337	0.55539	.	.	ENSG00000124177	ENST00000373233	D	0.86297	-2.1	5.96	5.96	0.96718	.	0.092067	0.47455	D	0.000225	D	0.86669	0.5988	L	0.57536	1.79	0.80722	D	1	P	0.39665	0.682	B	0.38985	0.287	D	0.86699	0.1928	10	0.52906	T	0.07	-10.5592	18.5813	0.91172	0.0:1.0:0.0:0.0	.	1998	Q8TD26	CHD6_HUMAN	Q	1998	ENSP00000362330:E1998Q	ENSP00000362330:E1998Q	E	-	1	0	CHD6	39482697	0.981000	0.34729	0.999000	0.59377	0.958000	0.62258	4.539000	0.60657	2.826000	0.97356	0.655000	0.94253	GAA		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				57	75	0	0	0	0.01441	0	57	75		
PCIF1	63935	broad.mit.edu	37	20	44569785	44569786	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44569785_44569786CC>GT	ENST00000372409.3	+	7	976_977	c.612_613CC>GT	c.(610-615)ctCCgc>ctGTgc	p.R205C		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	205					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGGAACTGCTCCGCTCTCAGCT	0.614																																						uc002xqs.2		NaN																	0				skin(1)	1						c.(610-615)CTCCGC>CTGTGC		phosphorylated CTD interacting factor 1																																				SO:0001583	missense	63935					nucleus		g.chr20:44569785_44569786CC>GT	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	Exception_encountered	20.37:g.44569785_44569786delinsGT	ENSP00000361486:p.Arg205Cys						p.R205C	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			7	926_927	+			205					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	DNP	ENST00000372409.3	37	c.612_613CC>GT	CCDS13388.1																																																																																				0.614	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1		NM_022104		67	97	0	0	0	0.004672	0	67	97		
CDH22	64405	broad.mit.edu	37	20	44815269	44815269	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:44815269C>T	ENST00000372262.3	-	9	2021	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	CDH22_ENST00000537909.1_Missense_Mutation_p.E541K	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	541	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTGGGAGCTTCAGGCACCAGG	0.592																																						uc002xrm.2		NaN																	0				ovary(4)|skin(1)	5						c.(1621-1623)GAA>AAA		cadherin 22 precursor							85.0	80.0	81.0					20																	44815269		2203	4300	6503	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44815269C>T	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1621G>A	20.37:g.44815269C>T	ENSP00000361336:p.Glu541Lys					CDH22_uc010ghk.1_Missense_Mutation_p.E541K	p.E541K	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN			9	2022	-		Myeloproliferative disorder(115;0.0122)	541			Cadherin 5.|Extracellular (Potential).		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1621G>A	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547158	0.65311	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.59772	0.24;0.24	4.42	4.42	0.53409	Cadherin (4);Cadherin-like (1);	0.122296	0.52532	D	0.000062	T	0.60805	0.2297	M	0.79614	2.46	0.46416	D	0.999031	B	0.16166	0.016	B	0.15052	0.012	T	0.64829	-0.6315	10	0.72032	D	0.01	.	15.9757	0.80063	0.0:1.0:0.0:0.0	.	541	Q9UJ99	CAD22_HUMAN	K	541	ENSP00000361336:E541K;ENSP00000437790:E541K	ENSP00000361336:E541K	E	-	1	0	CDH22	44248676	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	6.004000	0.70709	2.003000	0.58678	0.448000	0.29417	GAA		0.592	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1		NM_021248		60	67	0	0	0	0.01441	0	60	67		
RTFDC1	51507	broad.mit.edu	37	20	55049783	55049784	+	Missense_Mutation	DNP	GA	GA	AT	rs548721487		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr20:55049783_55049784GA>AT	ENST00000023939.4	+	3	321_322	c.214_215GA>AT	c.(214-216)GAa>ATa	p.E72I	snoU13_ENST00000459416.1_RNA|RTFDC1_ENST00000357348.5_Missense_Mutation_p.E102I|RTFDC1_ENST00000395881.3_Missense_Mutation_p.E72I	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	72																	CAAATCTGCAGAAAAGGCTCTT	0.381																																						uc002xxt.2		NaN																	0				ovary(1)	1						c.(214-216)GAA>ATA		hypothetical protein LOC51507																																				SO:0001583	missense	51507							g.chr20:55049783_55049784GA>AT	AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	Exception_encountered	20.37:g.55049783_55049784delinsAT	ENSP00000023939:p.Glu72Ile					C20orf43_uc010zzf.1_Missense_Mutation_p.E102I|C20orf43_uc002xxu.2_Missense_Mutation_p.E72I|C20orf43_uc002xxv.2_Missense_Mutation_p.E72I	p.E72I	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Colorectal(105;0.202)		3	321_322	+			72					E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Missense_Mutation	DNP	ENST00000023939.4	37	c.214_215GA>AT	CCDS13453.1																																																																																				0.381	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2		NM_016407		52	93	0	0	0	0.004672	0	52	93		
CLDN14	23562	broad.mit.edu	37	21	37833619	37833619	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:37833619G>A	ENST00000399137.1	-	3	1241	c.375C>T	c.(373-375)ttC>ttT	p.F125F	CLDN14_ENST00000399136.1_Silent_p.F125F|AP000695.4_ENST00000428667.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399139.1_Silent_p.F125F|AP000695.4_ENST00000454980.1_RNA|CLDN14_ENST00000342108.2_Silent_p.F125F|CLDN14_ENST00000399135.1_Silent_p.F125F	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	125					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						CGGCCAGGATGAAGAGGGTGC	0.647																																						uc002yvk.1		NaN																	0					0						c.(373-375)TTC>TTT		claudin 14							61.0	65.0	64.0					21																	37833619		2203	4300	6503	SO:0001819	synonymous_variant	23562				calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:37833619G>A	AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.375C>T	21.37:g.37833619G>A						CLDN14_uc002yvn.1_Silent_p.F125F|CLDN14_uc002yvo.1_Silent_p.F125F|CLDN14_uc002yvl.1_Silent_p.F125F|CLDN14_uc002yvm.1_Silent_p.F125F	p.F125F	NM_012130	NP_036262	O95500	CLD14_HUMAN			2	517	-			125			Helical; (Potential).			Silent	SNP	ENST00000399137.1	37	c.375C>T	CCDS13645.1																																																																																				0.647	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194697.1		NM_144492		78	146	0	0	0	0.01441	0	78	146		
HLCS	3141	broad.mit.edu	37	21	38126600	38126600	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:38126600C>T	ENST00000399120.1	-	12	3358	c.2128G>A	c.(2128-2130)Gac>Aac	p.D710N	HLCS_ENST00000336648.4_Missense_Mutation_p.D710N	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	710					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GAGTTGCCGTCCGGGTGCACA	0.637																																						uc010gnb.2		NaN																	0				ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(2128-2130)GAC>AAC		holocarboxylase synthetase	Biotin(DB00121)						62.0	52.0	56.0					21																	38126600		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38126600C>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.2128G>A	21.37:g.38126600C>T	ENSP00000382071:p.Asp710Asn					HLCS_uc002yvs.2_Missense_Mutation_p.D710N	p.D710N	NM_000411	NP_000402	P50747	BPL1_HUMAN			11	3329	-		Myeloproliferative disorder(46;0.0422)	710					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.2128G>A	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749510	0.89753	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	T;T	0.79247	-1.25;-1.25	6.02	6.02	0.97574	Biotin protein ligase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91949	0.5569	10	0.59425	D	0.04	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	710	P50747	BPL1_HUMAN	N	710	ENSP00000382071:D710N;ENSP00000338387:D710N	ENSP00000338387:D710N	D	-	1	0	HLCS	37048470	1.000000	0.71417	0.149000	0.22428	0.146000	0.21551	7.124000	0.77185	2.865000	0.98341	0.655000	0.94253	GAC		0.637	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2				8	41	0	0	0	0.00308	0	8	41		
DNMT3L	29947	broad.mit.edu	37	21	45681066	45681066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr21:45681066G>C	ENST00000418993.1	-	2	560	c.77C>G	c.(76-78)tCa>tGa	p.S26*	DNMT3L_ENST00000270172.3_Nonsense_Mutation_p.S26*	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	26					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AACGGAGCTTGAGAGCTCACT	0.597																																						uc002zeg.1		NaN																	0				skin(2)	2						c.(76-78)TCA>TGA		cytosine-5-methyltransferase 3-like protein							130.0	118.0	122.0					21																	45681066		2203	4300	6503	SO:0001587	stop_gained	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45681066G>C	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.77C>G	21.37:g.45681066G>C	ENSP00000412862:p.Ser26*					DNMT3L_uc002zeh.1_Nonsense_Mutation_p.S26*	p.S26*	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	2	561	-			26					E9PB42|Q9BUJ4	Nonsense_Mutation	SNP	ENST00000418993.1	37	c.77C>G	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.804041	0.70682	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	.	.	.	2.92	2.0	0.26442	.	0.418210	0.18797	U	0.130889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-0.0902	5.1749	0.15129	0.1724:0.0:0.8276:0.0	.	.	.	.	X	26	.	ENSP00000270172:S26X	S	-	2	0	DNMT3L	44505494	0.026000	0.19158	0.003000	0.11579	0.033000	0.12548	1.574000	0.36482	0.768000	0.33290	0.491000	0.48974	TCA		0.597	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1		NM_013369		108	148	0	0	0	0.01441	0	108	148		
MYH9	4627	broad.mit.edu	37	22	36708249	36708249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:36708249G>C	ENST00000216181.5	-	14	1803	c.1573C>G	c.(1573-1575)Ctg>Gtg	p.L525V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	525	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCAGGGCCAGAATGCCCGGG	0.637			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NaN		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1573-1575)CTG>GTG		myosin, heavy polypeptide 9, non-muscle							62.0	56.0	58.0					22																	36708249		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36708249G>C		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1573C>G	22.37:g.36708249G>C	ENSP00000216181:p.Leu525Val					MYH9_uc003aph.1_Missense_Mutation_p.L389V	p.L525V	NM_002473	NP_002464	P35579	MYH9_HUMAN			14	1804	-			525			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1573C>G	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158775	0.57368	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.80304	-1.36	4.44	3.4	0.38934	Myosin head, motor domain (3);	0.000000	0.64402	D	0.000003	D	0.89629	0.6770	M	0.91300	3.195	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.90048	0.4147	10	0.72032	D	0.01	.	8.2788	0.31887	0.2476:0.0:0.7524:0.0	.	525	P35579	MYH9_HUMAN	V	389;525	ENSP00000216181:L525V	ENSP00000216181:L525V	L	-	1	2	MYH9	35038195	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.235000	0.51328	2.188000	0.69820	0.462000	0.41574	CTG		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		12	138	0	0	0	0.024245	0	12	138		
SAMM50	25813	broad.mit.edu	37	22	44364695	44364695	+	Nonsense_Mutation	SNP	C	C	T	rs534986762		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:44364695C>T	ENST00000350028.4	+	4	476	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_5'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	107					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGACACATGTCAAGGTACATA	0.408																																						uc003bej.2		NaN																	0				skin(1)	1						c.(319-321)CAA>TAA		sorting and assembly machinery component 50							101.0	104.0	103.0					22																	44364695		2203	4300	6503	SO:0001587	stop_gained	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44364695C>T	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.319C>T	22.37:g.44364695C>T	ENSP00000345445:p.Gln107*					SAMM50_uc011aqd.1_5'UTR	p.Q107*	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN			4	516	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	107					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Nonsense_Mutation	SNP	ENST00000350028.4	37	c.319C>T	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444379	0.63178	.	.	ENSG00000100347	ENST00000350028	.	.	.	4.92	4.92	0.64577	.	0.363846	0.31145	N	0.008171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-13.3823	13.2588	0.60093	0.0:0.8407:0.1593:0.0	.	.	.	.	X	107	.	ENSP00000345445:Q107X	Q	+	1	0	SAMM50	42696028	0.875000	0.30112	0.976000	0.42696	0.144000	0.21451	1.097000	0.30988	2.436000	0.82500	0.563000	0.77884	CAA		0.408	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2		NM_015380		16	83	0	0	0	0.00499	0	16	83		
CAND2	23066	broad.mit.edu	37	3	12858614	12858614	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:12858614C>T	ENST00000456430.2	+	10	2224	c.2183C>T	c.(2182-2184)tCt>tTt	p.S728F	CAND2_ENST00000295989.5_Missense_Mutation_p.S635F	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	728					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCAGCCTCTTTGGTGGAG	0.652																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2		NaN																	0				skin(3)|pancreas(1)	4						c.(2182-2184)TCT>TTT		TBP-interacting protein isoform 1							25.0	28.0	27.0					3																	12858614		2161	4261	6422	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858614C>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2183C>T	3.37:g.12858614C>T	ENSP00000387641:p.Ser728Phe					CAND2_uc003bxj.2_Missense_Mutation_p.S635F	p.S728F	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			10	2232	+			728					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2183C>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631753	0.29068	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.47869	0.83;0.83	4.8	2.88	0.33553	Armadillo-like helical (1);Armadillo-type fold (1);	0.371780	0.27306	N	0.019972	T	0.54711	0.1875	M	0.74881	2.28	0.80722	D	1	P;P	0.46220	0.865;0.874	B;P	0.47528	0.418;0.549	T	0.58814	-0.7570	10	0.59425	D	0.04	-7.4782	12.7231	0.57154	0.0:0.682:0.318:0.0	.	728;635	O75155;O75155-2	CAND2_HUMAN;.	F	635;728	ENSP00000295989:S635F;ENSP00000387641:S728F	ENSP00000295989:S635F	S	+	2	0	CAND2	12833614	0.789000	0.28775	0.005000	0.12908	0.378000	0.30076	3.196000	0.51020	0.465000	0.27167	0.561000	0.74099	TCT		0.652	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4		XM_371617		65	81	0	0	0	0.01441	0	65	81		
CBLB	868	broad.mit.edu	37	3	105400433	105400433	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr3:105400433G>C	ENST00000264122.4	-	16	2639	c.2318C>G	c.(2317-2319)tCt>tGt	p.S773C	CBLB_ENST00000405772.1_Missense_Mutation_p.S773C|CBLB_ENST00000394027.3_Intron|CBLB_ENST00000407712.1_Intron|CBLB_ENST00000403724.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	773	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CACGGGATCAGAGGCTGAATC	0.423			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NaN		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(2317-2319)TCT>TGT		Cas-Br-M (murine) ecotropic retroviral							118.0	107.0	111.0					3																	105400433		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105400433G>C	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2318C>G	3.37:g.105400433G>C	ENSP00000264122:p.Ser773Cys					CBLB_uc003dwa.2_Intron|CBLB_uc011bhi.1_Intron|CBLB_uc003dwd.1_Missense_Mutation_p.S773C|CBLB_uc003dwe.1_3'UTR	p.S773C	NM_170662	NP_733762	Q13191	CBLB_HUMAN			16	2640	-			773			Pro-rich.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.2318C>G	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258440	0.39896	.	.	ENSG00000114423	ENST00000264122;ENST00000405772	D;D	0.84660	-1.85;-1.88	5.96	4.91	0.64330	.	0.194905	0.44285	D	0.000470	T	0.73361	0.3577	N	0.08118	0	0.80722	D	1	B	0.28512	0.214	B	0.27170	0.077	T	0.74578	-0.3619	10	0.87932	D	0	-27.4806	16.0544	0.80788	0.0743:0.0:0.9257:0.0	.	773	Q13191	CBLB_HUMAN	C	773	ENSP00000264122:S773C;ENSP00000384938:S773C	ENSP00000264122:S773C	S	-	2	0	CBLB	106883123	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.432000	0.44784	2.830000	0.97506	0.585000	0.79938	TCT		0.423	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2		NM_170662		36	74	0	0	0	0.025465	0	36	74		
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	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				27	24	0	0	0	0.00632	0	27	24		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq;WGS			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		25	6	0	0	0	0.01441	0	25	6		
LRPAP1	4043	broad.mit.edu	37	4	3516518	3516518	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:3516518G>A	ENST00000500728.2	-	7	1118	c.972C>T	c.(970-972)caC>caT	p.H324H	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	324	LDL receptor binding. {ECO:0000255}.				extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CCAGCAGGGCGTGCTTCTCGC	0.672																																						uc003ghi.2		NaN																	0				ovary(1)|skin(1)	2						c.(970-972)CAC>CAT		low density lipoprotein receptor-related protein							68.0	61.0	64.0					4																	3516518		2203	4298	6501	SO:0001819	synonymous_variant	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3516518G>A		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.972C>T	4.37:g.3516518G>A							p.H324H	NM_002337	NP_002328	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	7	1057	-			324			LDL receptor binding (Potential).		D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	c.972C>T	CCDS3371.1																																																																																				0.672	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4				21	153	0	0	0	0.012213	0	21	153		
SH3TC1	54436	broad.mit.edu	37	4	8224616	8224616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:8224616G>A	ENST00000245105.3	+	10	1229	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	SH3TC1_ENST00000539824.1_Missense_Mutation_p.E312K	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	388										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ATTCTTCAGCGAGGGCTGCTT	0.488																																					NSCLC(145;2298 2623 35616 37297)	uc003gkv.3		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(1162-1164)GAG>AAG		SH3 domain and tetratricopeptide repeats 1							79.0	75.0	76.0					4																	8224616		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8224616G>A	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.1162G>A	4.37:g.8224616G>A	ENSP00000245105:p.Glu388Lys					SH3TC1_uc003gkw.3_Missense_Mutation_p.E312K|SH3TC1_uc003gkx.3_RNA	p.E388K	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN			10	1263	+			388					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.1162G>A	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	G	0.591	-0.833001	0.02713	.	.	ENSG00000125089	ENST00000382516;ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.75704	-0.96;-0.96;0.02	4.31	-0.428	0.12306	.	0.337752	0.28225	N	0.016134	T	0.55577	0.1929	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.36672	-0.9738	10	0.06891	T	0.86	-10.7083	6.1461	0.20287	0.3192:0.1404:0.5404:0.0	.	388	Q8TE82	S3TC1_HUMAN	K	126;388;312;217;170	ENSP00000245105:E388K;ENSP00000441045:E312K;ENSP00000426035:E170K	ENSP00000245105:E388K	E	+	1	0	SH3TC1	8275516	0.496000	0.26059	0.000000	0.03702	0.389000	0.30415	0.705000	0.25675	-0.011000	0.14247	-0.254000	0.11334	GAG		0.488	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2		NM_018986		40	53	0	0	0	0.023175	0	40	53		
SPATA18	132671	broad.mit.edu	37	4	52945953	52945953	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:52945953C>T	ENST00000295213.4	+	9	1597	c.1223C>T	c.(1222-1224)cCt>cTt	p.P408L	SPATA18_ENST00000419395.2_Missense_Mutation_p.P376L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	408					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATTTCATTCCCTCCTGTCGTT	0.438																																						uc003gzl.2		NaN																	0				ovary(2)|skin(2)	4						c.(1222-1224)CCT>CTT		spermatogenesis associated 18 homolog							295.0	274.0	281.0					4																	52945953		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945953C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1223C>T	4.37:g.52945953C>T	ENSP00000295213:p.Pro408Leu					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.P376L|SPATA18_uc003gzk.1_Missense_Mutation_p.P408L	p.P408L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		9	1501	+			408					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1223C>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154749	0.78114	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.41758	0.99;3.68	5.55	5.55	0.83447	.	0.156269	0.64402	D	0.000018	T	0.64193	0.2576	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.956;0.956;0.999	T	0.65096	-0.6251	10	0.87932	D	0	-20.0761	17.0466	0.86505	0.0:1.0:0.0:0.0	.	376;408;408	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	L	408;376	ENSP00000295213:P408L;ENSP00000415309:P376L	ENSP00000295213:P408L	P	+	2	0	SPATA18	52640710	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	6.683000	0.74533	2.894000	0.99253	0.655000	0.94253	CCT		0.438	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2		NM_145263		128	159	0	0	0	0.01441	0	128	159		
FRAS1	80144	broad.mit.edu	37	4	79403578	79403578	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:79403578C>G	ENST00000264895.6	+	58	9081	c.8641C>G	c.(8641-8643)Ccg>Gcg	p.P2881A		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2877	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACTCAGTATCCGGTAATTGA	0.453																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(8641-8643)CCG>GCG		Fraser syndrome 1							227.0	227.0	227.0					4																	79403578		1930	4138	6068	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403578C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8641C>G	4.37:g.79403578C>G	ENSP00000264895:p.Pro2881Ala						p.P2881A	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			58	9081	+			2876			Calx-beta 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8641C>G	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.575989|4.575989	0.86645|0.86645	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.26067|.	1.76|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.056023|.	0.64402|.	D|.	0.000001|.	D|D	0.85137|0.85137	0.5628|0.5628	M|M	0.88241|0.88241	2.94|2.94	0.80722|0.80722	D|D	1|1	P|.	0.36909|.	0.573|.	B|.	0.42995|.	0.404|.	D|D	0.86099|0.86099	0.1555|0.1555	10|5	0.87932|.	D|.	0|.	.|.	20.3088|20.3088	0.98641|0.98641	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2881|.	E9PHH6|.	.|.	A|C	2881|1109	ENSP00000264895:P2881A|.	ENSP00000264895:P2881A|.	P|S	+|+	1|2	0|0	FRAS1|FRAS1	79622602|79622602	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.529000|7.529000	0.81952|0.81952	2.805000|2.805000	0.96524|0.96524	0.579000|0.579000	0.79373|0.79373	CCG|TCC		0.453	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					93	130	0	0	0	0.01441	0	93	130		
EGF	1950	broad.mit.edu	37	4	110866376	110866376	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:110866376G>A	ENST00000265171.5	+	5	1330	c.885G>A	c.(883-885)ctG>ctA	p.L295L	EGF_ENST00000503392.1_Silent_p.L295L|EGF_ENST00000509793.1_Silent_p.L295L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	295					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TTGGTGAACTGAAAGTAGTGC	0.458																																						uc003hzy.3		NaN																	0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(883-885)CTG>CTA		epidermal growth factor precursor	Sulindac(DB00605)						119.0	96.0	104.0					4																	110866376		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110866376G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.885G>A	4.37:g.110866376G>A						EGF_uc011cfu.1_Silent_p.L295L|EGF_uc011cfv.1_Silent_p.L295L	p.L295L	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	5	1337	+		Hepatocellular(203;0.0893)	295			Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.885G>A	CCDS3689.1																																																																																				0.458	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1				15	19	0	0	0	0.00499	0	15	19		
SEC24D	9871	broad.mit.edu	37	4	119736285	119736285	+	Silent	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:119736285G>A	ENST00000280551.6	-	6	937	c.699C>T	c.(697-699)ggC>ggT	p.G233G	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Silent_p.G234G			O94855	SC24D_HUMAN	SEC24 family member D	233	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ACAGTTGTGCGCCTGCCATCT	0.512																																						uc003ici.3		NaN																	0					0						c.(697-699)GGC>GGT		Sec24-related protein D							56.0	58.0	57.0					4																	119736285		2203	4300	6503	SO:0001819	synonymous_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119736285G>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.699C>T	4.37:g.119736285G>A						SEC24D_uc003icj.3_Silent_p.G234G|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA	p.G233G	NM_014822	NP_055637	O94855	SC24D_HUMAN			6	971	-			233			Pro-rich.		Q8IYI7	Silent	SNP	ENST00000280551.6	37	c.699C>T	CCDS3710.1																																																																																				0.512	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4				45	38	0	0	0	0.009718	0	45	38		
TBC1D9	23158	broad.mit.edu	37	4	141578845	141578845	+	Silent	SNP	T	T	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:141578845T>C	ENST00000442267.2	-	12	2117	c.2043A>G	c.(2041-2043)ctA>ctG	p.L681L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	681	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACTGAGAAATAGTGTGAGGA	0.483																																						uc010ioj.2		NaN																	0				ovary(1)	1						c.(2041-2043)CTA>CTG		TBC1 domain family, member 9 (with GRAM domain)							169.0	165.0	167.0					4																	141578845		2042	4199	6241	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141578845T>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2043A>G	4.37:g.141578845T>C							p.L681L	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			12	2315	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	681			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.2043A>G	CCDS47136.1																																																																																				0.483	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1		NM_015130		61	60	0	0	0	0.01441	0	61	60		
ADAM29	11086	broad.mit.edu	37	4	175898670	175898670	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:175898670G>A	ENST00000359240.3	+	5	2664	c.1994G>A	c.(1993-1995)gGc>gAc	p.G665D	ADAM29_ENST00000445694.1_Missense_Mutation_p.G665D|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.G665D|ADAM29_ENST00000404450.4_Missense_Mutation_p.G665D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	665					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTGACAGTGGCCCACCCCCT	0.393																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NaN																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1993-1995)GGC>GAC		ADAM metallopeptidase domain 29 preproprotein							40.0	41.0	41.0					4																	175898670		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898670G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1994G>A	4.37:g.175898670G>A	ENSP00000352177:p.Gly665Asp					ADAM29_uc003iud.2_Missense_Mutation_p.G665D|ADAM29_uc010irr.2_Missense_Mutation_p.G665D|ADAM29_uc011cki.1_Missense_Mutation_p.G665D	p.G665D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2664	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	665			Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1994G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220432	0.58560	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	3.08	3.08	0.35506	.	0.000000	0.36591	U	0.002506	D	0.88855	0.6550	M	0.83953	2.67	0.35661	D	0.812532	D	0.89917	1.0	D	0.87578	0.998	D	0.91974	0.5589	9	.	.	.	.	12.3835	0.55320	0.0:0.0:1.0:0.0	.	665	Q9UKF5	ADA29_HUMAN	D	665	ENSP00000352177:G665D;ENSP00000414544:G665D;ENSP00000384229:G665D;ENSP00000423517:G665D	.	G	+	2	0	ADAM29	176135245	1.000000	0.71417	0.958000	0.39756	0.660000	0.38997	7.449000	0.80643	2.032000	0.59987	0.643000	0.83706	GGC		0.393	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding					29	27	0	0	0	0.008361	0	29	27		
FAT1	2195	broad.mit.edu	37	4	187541182	187541182	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr4:187541182G>C	ENST00000441802.2	-	10	6767	c.6558C>G	c.(6556-6558)ttC>ttG	p.F2186L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2186	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGCACTGTAGAAAGGTTTTT	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6556-6558)TTC>TTG		FAT tumor suppressor 1 precursor							81.0	80.0	80.0					4																	187541182		1977	4155	6132	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541182G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6558C>G	4.37:g.187541182G>C	ENSP00000406229:p.Phe2186Leu	HNSCC(5;0.00058)					p.F2186L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6746	-			2186			Extracellular (Potential).|Cadherin 20.			Missense_Mutation	SNP	ENST00000441802.2	37	c.6558C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175814	0.38413	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.02974	4.09	5.05	5.05	0.67936	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.06280	0.0162	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.60786	-0.7194	10	0.10902	T	0.67	.	18.5902	0.91208	0.0:0.0:1.0:0.0	.	2186	Q14517	FAT1_HUMAN	L	2186;2188	ENSP00000406229:F2186L	ENSP00000260147:F2188L	F	-	3	2	FAT1	187778176	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	2.352000	0.44080	2.619000	0.88677	0.655000	0.94253	TTC		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		62	72	0	0	0	0.01441	0	62	72		
EXOC3	11336	broad.mit.edu	37	5	454125	454125	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:454125G>C	ENST00000512944.1	+	4	1194	c.1005G>C	c.(1003-1005)gaG>gaC	p.E335D	EXOC3_ENST00000315013.5_Missense_Mutation_p.E335D	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	346					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)				breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AAGCCAATGAGATCGTGAGCC	0.542																																						uc003jba.2		NaN																	0					0						c.(1003-1005)GAG>GAC		Sec6 protein							27.0	27.0	27.0					5																	454125		2062	4191	6253	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:454125G>C	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.1005G>C	5.37:g.454125G>C	ENSP00000425587:p.Glu335Asp						p.E335D	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	1133	+		Ovarian(839;0.0563)	346					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.1005G>C	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322109	0.60634	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.05382	3.45;3.45	5.8	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	L	0.45352	1.415	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.17228	-1.0376	10	0.11485	T	0.65	-38.0198	11.4339	0.50058	0.1719:0.0:0.8281:0.0	.	346	O60645	EXOC3_HUMAN	D	335;335;345	ENSP00000425587:E335D;ENSP00000323377:E335D	ENSP00000323377:E335D	E	+	3	2	EXOC3	507125	1.000000	0.71417	0.999000	0.59377	0.420000	0.31355	1.614000	0.36911	1.460000	0.47911	0.462000	0.41574	GAG		0.542	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1		NM_007277		11	19	0	0	0	0.020292	0	11	19		
PRLR	5618	broad.mit.edu	37	5	35065622	35065622	+	Missense_Mutation	SNP	C	C	G	rs372649639		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:35065622C>G	ENST00000382002.5	-	10	1864	c.1438G>C	c.(1438-1440)Gaa>Caa	p.E480Q	PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.E379Q|PRLR_ENST00000342362.5_Missense_Mutation_p.E379Q|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	480					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TGGAAGCTTTCTACCTCCCTC	0.498																																						uc003jjm.2		NaN																	0				ovary(2)|skin(1)	3						c.(1438-1440)GAA>CAA		prolactin receptor precursor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						93.0	102.0	99.0					5																	35065622		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065622C>G		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1438G>C	5.37:g.35065622C>G	ENSP00000371432:p.Glu480Gln					PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Missense_Mutation_p.E379Q	p.E480Q	NM_000949	NP_000940	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1968	-	all_lung(31;3.83e-05)		480			Cytoplasmic (Potential).		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1438G>C	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	2.824	-0.244188	0.05906	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.88509	-2.39;-1.47;-2.39	5.07	3.27	0.37495	.	0.914869	0.09677	N	0.770259	D	0.92740	0.7692	M	0.86651	2.83	0.09310	N	1	P;P	0.50443	0.615;0.935	B;P	0.52627	0.439;0.704	T	0.82566	-0.0393	10	0.40728	T	0.16	-0.7777	10.5979	0.45349	0.0:0.8431:0.0:0.1569	.	480;379	P16471;P16471-2	PRLR_HUMAN;.	Q	379;480;379	ENSP00000339213:E379Q;ENSP00000371432:E480Q;ENSP00000422556:E379Q	ENSP00000339213:E379Q	E	-	1	0	PRLR	35101379	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.302000	0.19192	0.718000	0.32166	-0.140000	0.14226	GAA		0.498	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2				52	77	0	0	0	0.01441	0	52	77		
SLCO4C1	353189	broad.mit.edu	37	5	101585389	101585389	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:101585389G>A	ENST00000310954.6	-	9	1859	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAAAGCAGGGAGAAAAATAT	0.418																																						uc003knm.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1573-1575)CCC>TCC		solute carrier organic anion transporter family,							84.0	82.0	82.0					5																	101585389		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101585389G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1573C>T	5.37:g.101585389G>A	ENSP00000309741:p.Pro525Ser						p.P525S	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	9	1860	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	525			Kazal-like.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.1573C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007881	0.75046	.	.	ENSG00000173930	ENST00000310954	T	0.04317	3.65	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.178809	0.39985	N	0.001205	T	0.21718	0.0523	M	0.83223	2.63	0.41555	D	0.988598	D	0.56287	0.975	D	0.67382	0.951	T	0.00189	-1.1938	10	0.59425	D	0.04	.	12.9603	0.58453	0.0:0.0:0.8379:0.1621	.	525	Q6ZQN7	SO4C1_HUMAN	S	525	ENSP00000309741:P525S	ENSP00000309741:P525S	P	-	1	0	SLCO4C1	101613288	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.568000	0.53820	2.535000	0.85469	0.460000	0.39030	CCC		0.418	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1		NM_180991		18	27	0	0	0	0.00499	0	18	27		
PCDHA11	56138	broad.mit.edu	37	5	140249093	140249093	+	Silent	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:140249093C>G	ENST00000398640.2	+	1	405	c.405C>G	c.(403-405)ctC>ctG	p.L135L	PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	135					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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTCGCTCAGAGAACAAA	0.517																																						uc003lia.2		NaN																	0				breast(1)	1						c.(403-405)CTC>CTG		protocadherin alpha 11 isoform 1 precursor							102.0	117.0	112.0					5																	140249093		2203	4300	6503	SO:0001819	synonymous_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140249093C>G	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.405C>G	5.37:g.140249093C>G						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_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Silent_p.L135L	p.L135L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1263	+			135			Extracellular (Potential).		B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.405C>G	CCDS47284.1																																																																																				0.517	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2		NM_018902		202	261	0	0	0	0.01441	0	202	261		
ADAM19	8728	broad.mit.edu	37	5	156946865	156946865	+	Silent	SNP	G	G	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:156946865G>T	ENST00000517905.1	-	6	626	c.582C>A	c.(580-582)acC>acA	p.T194T	ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Silent_p.T196T|ADAM19_ENST00000257527.4_Silent_p.T194T			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	194					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGCTTCTTGGTCTGTTGTG	0.542																																						uc003lwz.2		NaN																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(580-582)ACC>ACA		ADAM metallopeptidase domain 19 preproprotein							92.0	98.0	96.0					5																	156946865		2203	4300	6503	SO:0001819	synonymous_variant	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156946865G>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.582C>A	5.37:g.156946865G>T						ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.T125T	p.T194T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		6	646	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	194					Q9BZL5|Q9UHP2	Silent	SNP	ENST00000517905.1	37	c.582C>A																																																																																					0.542	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1		NM_033274		53	91	1	0	3.07002e-29	0.01441	3.24747e-29	53	91		
PANK3	79646	broad.mit.edu	37	5	167986163	167986163	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:167986163C>T	ENST00000239231.6	-	6	1253		c.e6-1		PANK3_ENST00000520504.1_Splice_Site|MIR103A1_ENST00000362165.1_RNA	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3						coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		TGTTTATTTTCTAAAAGAAAA	0.249																																						uc003lzz.1		NaN																	0				ovary(1)	1						c.e6-1		pantothenate kinase 3							32.0	31.0	32.0					5																	167986163		2198	4295	6493	SO:0001630	splice_region_variant	79646				coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity	g.chr5:167986163C>T	AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.937-1G>A	5.37:g.167986163C>T						MIR103-1AS_hsa-mir-103-1-as|MI0007261_5'Flank	p.K313_splice	NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)	6	1237	-	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)						D3DQL1|Q53FJ9|Q7RTX4	Splice_Site	SNP	ENST00000239231.6	37	c.937_splice	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464582	0.84425	.	.	ENSG00000120137	ENST00000239231	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5726	0.91142	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PANK3	167918741	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	.		0.249	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2		NM_024594	Intron	29	19	0	0	0	0.00632	0	29	19		
OR2Y1	134083	broad.mit.edu	37	5	180167034	180167034	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr5:180167034C>G	ENST00000307832.2	-	1	65	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCCATCTTCAAAACTGGTG	0.438																																						uc003mmf.1		NaN																	0				central_nervous_system(1)	1						c.(25-27)GAA>CAA		olfactory receptor, family 2, subfamily Y,							40.0	43.0	42.0					5																	180167034		2202	4297	6499	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180167034C>G	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.25G>C	5.37:g.180167034C>G	ENSP00000312403:p.Glu9Gln						p.E9Q	NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	25	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	9			Extracellular (Potential).		B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.25G>C	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	c	2.347	-0.349848	0.05173	.	.	ENSG00000174339	ENST00000307832	T	0.00575	6.46	4.27	-4.91	0.03085	.	8.159260	0.00397	N	0.000041	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.47302	-0.9128	10	0.20519	T	0.43	.	3.3741	0.07232	0.1061:0.2112:0.4444:0.2383	.	9	Q8NGV0	OR2Y1_HUMAN	Q	9	ENSP00000312403:E9Q	ENSP00000312403:E9Q	E	-	1	0	OR2Y1	180099640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.059000	0.01393	-0.791000	0.04486	-0.693000	0.03709	GAA		0.438	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2		XM_068682		23	37	0	0	0	0.01892	0	23	37		
SERPINB6	5269	broad.mit.edu	37	6	2954877	2954877	+	Missense_Mutation	SNP	C	C	T	rs146252067		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:2954877C>T	ENST00000380520.1	-	3	2373	c.379G>A	c.(379-381)Gta>Ata	p.V127I	SERPINB6_ENST00000380546.3_Missense_Mutation_p.V127I|SERPINB6_ENST00000380524.1_Missense_Mutation_p.V127I|SERPINB6_ENST00000335686.5_Missense_Mutation_p.V127I|SERPINB6_ENST00000380529.1_Missense_Mutation_p.V127I|SERPINB6_ENST00000380539.1_Missense_Mutation_p.V127I			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	127					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GACTTCTCTACGGCGCTGATA	0.393																																						uc003muk.2		NaN																	0					0						c.(379-381)GTA>ATA		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)	C	ILE/VAL,ILE/VAL	1,4405		0,1,2202	174.0	164.0	167.0		379,379	-10.4	0.0	6	dbSNP_134	167	0,8600		0,0,4300	no	missense,missense	SERPINB6	NM_001195291.1,NM_004568.5	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	127/377,127/377	2954877	1,13005	2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2954877C>T	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.379G>A	6.37:g.2954877C>T	ENSP00000369891:p.Val127Ile					SERPINB6_uc003mui.2_Missense_Mutation_p.V10I|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.V127I|SERPINB6_uc003mum.2_Missense_Mutation_p.V127I|SERPINB6_uc003mun.2_Missense_Mutation_p.V127I|SERPINB6_uc003muo.2_Missense_Mutation_p.V127I	p.V127I	NM_004568	NP_004559	P35237	SPB6_HUMAN			3	2374	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	127					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.379G>A	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	C	7.081	0.570151	0.13560	2.27E-4	0.0	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.22	-10.4	0.00318	Serpin domain (3);	0.867247	0.10576	N	0.658528	T	0.52869	0.1761	N	0.17838	0.53	0.09310	N	1	B	0.21309	0.054	B	0.29942	0.109	T	0.58901	-0.7554	10	0.62326	D	0.03	.	11.9954	0.53198	0.5609:0.3542:0.0:0.0848	.	127	P35237	SPB6_HUMAN	I	127	ENSP00000369896:V127I;ENSP00000369891:V127I;ENSP00000338358:V127I;ENSP00000369901:V127I;ENSP00000369912:V127I;ENSP00000369919:V127I	ENSP00000338358:V127I	V	-	1	0	SERPINB6	2899876	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.846000	0.00095	-3.720000	0.00116	-0.188000	0.12872	GTA		0.393	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1				49	74	0	0	0	0.01441	0	49	74		
GCNT2	2651	broad.mit.edu	37	6	10621627	10621627	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:10621627C>T	ENST00000379597.3	+	2	1525	c.969C>T	c.(967-969)ctC>ctT	p.L323L	GCNT2_ENST00000316170.3_Silent_p.L321L|GCNT2_ENST00000495262.1_Silent_p.L323L|GCNT2_ENST00000265012.4_Silent_p.L323L|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000410107.1_Silent_p.L37L			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	323					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGGAAACCTCAGAGCTATAA	0.507																																						uc010joo.2		NaN																	0				ovary(2)	2						c.(967-969)CTC>CTT		glucosaminyl (N-acetyl) transferase 2,							95.0	82.0	86.0					6																	10621627		2203	4300	6503	SO:0001819	synonymous_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10621627C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.969C>T	6.37:g.10621627C>T						GCNT2_uc010jol.2_Silent_p.L37L|GCNT2_uc010jom.2_RNA|GCNT2_uc010jop.2_RNA|GCNT2_uc003mza.2_RNA|GCNT2_uc003mzc.3_Silent_p.L322L|GCNT2_uc003mzd.2_Silent_p.L321L|GCNT2_uc003mze.2_Silent_p.L323L	p.L323L	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	4	1520	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	323			Lumenal (Potential).			Silent	SNP	ENST00000379597.3	37	c.969C>T	CCDS34338.1																																																																																				0.507	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3		NM_145649		18	28	0	0	0	0.010504	0	18	28		
ZKSCAN3	80317	broad.mit.edu	37	6	28333766	28333766	+	Missense_Mutation	SNP	C	C	T	rs530750921		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:28333766C>T	ENST00000377255.3	+	7	1618	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.L293F|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.L441F	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	441					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AAGTTCACATCTCCTGAGACA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21118	0.0		0.0	False		,,,				2504	0.0					uc003nle.3		NaN																	0				skin(2)	2						c.(1321-1323)CTC>TTC		zinc finger with KRAB and SCAN domains 3							76.0	77.0	76.0					6																	28333766		2203	4300	6503	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333766C>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.1321C>T	6.37:g.28333766C>T	ENSP00000366465:p.Leu441Phe					ZKSCAN3_uc010jrc.2_Missense_Mutation_p.L441F|ZKSCAN3_uc003nlf.3_Missense_Mutation_p.L293F|uc010jrd.2_5'Flank	p.L441F	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			6	1537	+			441			C2H2-type 5.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.1321C>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	18.13	3.556223	0.65425	.	.	ENSG00000189298	ENST00000252211;ENST00000341464;ENST00000377255	T;T;T	0.40476	1.03;1.03;1.03	3.97	3.97	0.46021	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44767	0.1309	L	0.41824	1.3	0.30035	N	0.813132	D	0.89917	1.0	D	0.91635	0.999	T	0.34079	-0.9843	9	0.56958	D	0.05	.	14.9853	0.71342	0.0:1.0:0.0:0.0	.	441	Q9BRR0	ZKSC3_HUMAN	F	441;293;441	ENSP00000252211:L441F;ENSP00000341883:L293F;ENSP00000366465:L441F	ENSP00000252211:L441F	L	+	1	0	ZKSCAN3	28441745	0.969000	0.33509	1.000000	0.80357	0.998000	0.95712	2.883000	0.48554	2.047000	0.60756	0.655000	0.94253	CTC		0.498	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3		NM_024493		26	35	0	0	0	0.024334	0	26	35		
DXO	1797	broad.mit.edu	37	6	31938495	31938495	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:31938495C>G	ENST00000375349.3	-	4	1111	c.700G>C	c.(700-702)Gag>Cag	p.E234Q	DXO_ENST00000375356.3_Missense_Mutation_p.E234Q|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000337523.5_Missense_Mutation_p.E234Q			O77932	DXO_HUMAN	decapping exoribonuclease	234					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										CAGTCTACCTCCCCTGAGAAG	0.617																																						uc003nyo.1		NaN																	0					0						c.(700-702)GAG>CAG		DOM-3 homolog Z							52.0	58.0	56.0					6																	31938495		1510	2708	4218	SO:0001583	missense	1797						identical protein binding|metal ion binding|nucleotide binding	g.chr6:31938495C>G	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.700G>C	6.37:g.31938495C>G	ENSP00000364498:p.Glu234Gln					DOM3Z_uc003nyp.1_Missense_Mutation_p.E234Q|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.E234Q|DOM3Z_uc003nys.1_3'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	p.E234Q	NM_005510	NP_005501	O77932	DOM3Z_HUMAN			3	1234	-			234				GDP (By similarity).	A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	c.700G>C	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435043	0.83885	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.54279	0.58;0.58;0.58	4.84	4.84	0.62591	.	0.052600	0.85682	D	0.000000	T	0.67711	0.2922	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.71513	-0.4570	10	0.62326	D	0.03	-18.4174	16.8726	0.86044	0.0:1.0:0.0:0.0	.	234	O77932	DOM3Z_HUMAN	Q	234	ENSP00000337759:E234Q;ENSP00000364498:E234Q;ENSP00000364505:E234Q	ENSP00000337759:E234Q	E	-	1	0	DOM3Z	32046474	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.004000	0.76317	2.516000	0.84829	0.561000	0.74099	GAG		0.617	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3				85	105	0	0	0	0.01441	0	85	105		
DXO	1797	broad.mit.edu	37	6	31938905	31938905	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:31938905C>G	ENST00000375349.3	-	3	787	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	DXO_ENST00000375356.3_Missense_Mutation_p.E126Q|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000337523.5_Missense_Mutation_p.E126Q			O77932	DXO_HUMAN	decapping exoribonuclease	126					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										ACTATGGCCTCTGCCAGCCAG	0.592																																						uc003nyo.1		NaN																	0					0						c.(376-378)GAG>CAG		DOM-3 homolog Z							54.0	57.0	56.0					6																	31938905		1510	2708	4218	SO:0001583	missense	1797						identical protein binding|metal ion binding|nucleotide binding	g.chr6:31938905C>G	AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.376G>C	6.37:g.31938905C>G	ENSP00000364498:p.Glu126Gln					DOM3Z_uc003nyp.1_Missense_Mutation_p.E126Q|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.E126Q|DOM3Z_uc003nys.1_Missense_Mutation_p.E126Q|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank	p.E126Q	NM_005510	NP_005501	O77932	DOM3Z_HUMAN			2	910	-			126					A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	ENST00000375349.3	37	c.376G>C	CCDS4732.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950936	0.34471	.	.	ENSG00000204348	ENST00000337523;ENST00000375349;ENST00000375356	T;T;T	0.18657	2.2;2.2;2.2	4.91	4.91	0.64330	.	0.440276	0.22780	N	0.055722	T	0.06142	0.0159	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.15464	-1.0436	10	0.38643	T	0.18	-11.1894	17.0168	0.86421	0.0:1.0:0.0:0.0	.	126;126	F8WC68;O77932	.;DOM3Z_HUMAN	Q	126	ENSP00000337759:E126Q;ENSP00000364498:E126Q;ENSP00000364505:E126Q	ENSP00000337759:E126Q	E	-	1	0	DOM3Z	32046884	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.607000	0.46300	2.541000	0.85698	0.561000	0.74099	GAG		0.592	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3				44	74	0	0	0	0.01441	0	44	74		
HLA-DRB1	3123	broad.mit.edu	37	6	32551898	32551898	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:32551898C>T	ENST00000360004.5	-	2	463	c.358G>A	c.(358-360)Gtg>Atg	p.V120M		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	120	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CGCCGCTGCACTGTGAAGCTC	0.622										Multiple Myeloma(14;0.17)																												uc003obp.3		NaN																	0				skin(1)	1						c.(358-360)GTG>ATG		major histocompatibility complex, class II, DR							27.0	26.0	27.0					6																	32551898		2131	4218	6349	SO:0001583	missense	3123	Rheumatoid_Arthritis|Sj_gren_syndrome			antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32551898C>T	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.358G>A	6.37:g.32551898C>T	ENSP00000353099:p.Val120Met	Multiple Myeloma(14;0.17)				HLA-DRB1_uc011dqa.1_Translation_Start_Site|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_RNA|HLA-DRB1_uc011dqb.1_5'Flank|HLA-DRB1_uc011dqc.1_Translation_Start_Site	p.V120M	NM_002124	NP_002115	P01911	2B1F_HUMAN			2	401	-			120			Beta-1.|Extracellular (Potential).		P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	c.358G>A	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.082507	0.36758	.	.	ENSG00000196126	ENST00000360004	T	0.00299	8.22	3.34	-1.09	0.09904	MHC class II, beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);Immunoglobulin-like fold (1);	0.219434	0.22442	U	0.060001	T	0.00210	0.0006	M	0.91140	3.18	0.09310	N	1	D	0.62365	0.991	P	0.51742	0.678	T	0.34850	-0.9812	10	0.87932	D	0	.	8.339	0.32232	0.1554:0.2559:0.5887:0.0	.	120	P01911	2B1F_HUMAN	M	120	ENSP00000353099:V120M	ENSP00000353099:V120M	V	-	1	0	HLA-DRB1	32659876	0.000000	0.05858	0.087000	0.20705	0.004000	0.04260	-0.247000	0.08866	-0.117000	0.11872	0.397000	0.26171	GTG		0.622	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3		NM_002124		7	15	0	0	0	0.00308	0	7	15		
BAI3	577	broad.mit.edu	37	6	70098735	70098735	+	Silent	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:70098735G>C	ENST00000370598.1	+	32	5342	c.4521G>C	c.(4519-4521)ctG>ctC	p.L1507L	BAI3_ENST00000238918.8_Silent_p.L713L|BAI3_ENST00000546190.1_Silent_p.L471L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1507					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGAAGTGTCTGAATTTGCCTC	0.418																																						uc003pev.3		NaN																	0				lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(4519-4521)CTG>CTC		brain-specific angiogenesis inhibitor 3							96.0	83.0	87.0					6																	70098735		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70098735G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4521G>C	6.37:g.70098735G>C						BAI3_uc010kak.2_Silent_p.L1507L|BAI3_uc011dxx.1_Silent_p.L713L	p.L1507L	NM_001704	NP_001695	O60242	BAI3_HUMAN			32	4969	+		all_lung(197;0.212)	1507			Cytoplasmic (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.4521G>C	CCDS4968.1																																																																																				0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1				28	28	0	0	0	0.009535	0	28	28		
ASF1A	25842	broad.mit.edu	37	6	119221997	119221997	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:119221997C>T	ENST00000229595.5	+	2	370	c.176C>T	c.(175-177)tCt>tTt	p.S59F	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	59	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GTTTTAGACTCTGTTTTAGTG	0.358																																						uc011ebn.1		NaN																	0					0						c.(175-177)TCT>TTT		ASF1 anti-silencing function 1 homolog A							263.0	257.0	259.0					6																	119221997		1850	4091	5941	SO:0001583	missense	25842				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding	g.chr6:119221997C>T	AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.176C>T	6.37:g.119221997C>T	ENSP00000229595:p.Ser59Phe						p.S59F	NM_014034	NP_054753	Q9Y294	ASF1A_HUMAN		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)	2	513	+		all_cancers(87;0.122)|all_epithelial(87;0.179)	59			Interaction with histone H3, CHAF1B, and HIRA.		Q6IA08|Q9P014	Missense_Mutation	SNP	ENST00000229595.5	37	c.176C>T	CCDS47469.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295830	0.95574	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84642	0.5517	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84509	0.0621	9	0.52906	T	0.07	-10.8287	20.8794	0.99867	0.0:1.0:0.0:0.0	.	59	Q9Y294	ASF1A_HUMAN	F	59	.	ENSP00000229595:S59F	S	+	2	0	ASF1A	119263696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCT		0.358	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361910.1		NM_014034		82	110	0	0	0	0.01441	0	82	110		
STX11	8676	broad.mit.edu	37	6	144508138	144508138	+	Missense_Mutation	SNP	C	C	T	rs483352901		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr6:144508138C>T	ENST00000367568.4	+	2	557	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	125				HSAVAR -> ALGSGG (in Ref. 1; AAD02107). {ECO:0000305}.	cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.A125G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		TCGGCAGTGGCGCGCATTTCG	0.672									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(373-375)GCG>GTG		syntaxin 11							19.0	18.0	18.0					6																	144508138		2202	4298	6500	SO:0001583	missense	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508138C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.374C>T	6.37:g.144508138C>T	ENSP00000356540:p.Ala125Val						p.A125V	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	566	+			125	HSAVAR -> ALGSGG (in Ref. 1; AAD02107).				E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.374C>T	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806402	0.31961	.	.	ENSG00000135604	ENST00000367568	T	0.15603	2.41	5.87	5.01	0.66863	t-SNARE (1);Syntaxin, N-terminal (2);	0.050973	0.85682	D	0.000000	T	0.08846	0.0219	L	0.46670	1.46	0.50813	D	0.999891	B	0.28291	0.206	B	0.29785	0.107	T	0.06162	-1.0842	10	0.33141	T	0.24	-19.0421	14.7499	0.69516	0.0:0.9302:0.0:0.0698	.	125	O75558	STX11_HUMAN	V	125	ENSP00000356540:A125V	ENSP00000356540:A125V	A	+	2	0	STX11	144549831	1.000000	0.71417	0.999000	0.59377	0.196000	0.23810	2.760000	0.47581	1.498000	0.48600	0.655000	0.94253	GCG		0.672	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1				28	39	0	0	0	0.00632	0	28	39		
FBXL18	80028	broad.mit.edu	37	7	5541202	5541202	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:5541202A>G	ENST00000382368.3	-	3	821	c.698T>C	c.(697-699)tTc>tCc	p.F233S	FBXL18_ENST00000453700.3_Missense_Mutation_p.F233S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	233									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCGCGCATAGAAGACCCGCAG	0.642																																						uc003soo.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(697-699)TTC>TCC		F-box and leucine-rich repeat protein 18							30.0	37.0	35.0					7																	5541202		2044	4170	6214	SO:0001583	missense	80028							g.chr7:5541202A>G	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.698T>C	7.37:g.5541202A>G	ENSP00000371805:p.Phe233Ser					FBXL18_uc003son.3_Missense_Mutation_p.F233S	p.F233S	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	792	-		Ovarian(82;0.0607)	233					Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.698T>C	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.71|17.71	3.456119|3.456119	0.63401|0.63401	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700|ENST00000458142	T;T|.	0.62364|.	0.09;0.03|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53351|0.53351	0.1791|0.1791	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.50617|0.50617	-0.8807|-0.8807	10|5	0.48119|.	T|.	0.1|.	.|.	14.6055|14.6055	0.68475|0.68475	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	233;233|.	F5H4Z4;Q96ME1-4|.	.;.|.	S|P	233|117	ENSP00000371805:F233S;ENSP00000444797:F233S|.	ENSP00000311990:F233S|.	F|S	-|-	2|1	0|0	FBXL18|FBXL18	5507728|5507728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.574000|0.574000	0.36063|0.36063	9.271000|9.271000	0.95698|0.95698	2.044000|2.044000	0.60594|0.60594	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.642	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1		NM_024963		13	87	0	0	0	0.013537	0	13	87		
SP4	6671	broad.mit.edu	37	7	21550696	21550696	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:21550696C>G	ENST00000222584.3	+	6	2382	c.2164C>G	c.(2164-2166)Ctc>Gtc	p.L722V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	722					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAGTGATCATCTCTCCAAACA	0.413																																						uc003sva.2		NaN																	0				ovary(3)|skin(2)	5						c.(2164-2166)CTC>GTC		Sp4 transcription factor							109.0	102.0	104.0					7																	21550696		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21550696C>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2164C>G	7.37:g.21550696C>G	ENSP00000222584:p.Leu722Val					SP4_uc003svb.2_Missense_Mutation_p.L409V	p.L722V	NM_003112	NP_003103	Q02446	SP4_HUMAN			6	2345	+			722			C2H2-type 3.		O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.2164C>G	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086101	0.76642	.	.	ENSG00000105866	ENST00000222584	T	0.12255	2.7	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.02860	-1.1101	10	0.87932	D	0	.	18.8428	0.92190	0.0:1.0:0.0:0.0	.	722	Q02446	SP4_HUMAN	V	722	ENSP00000222584:L722V	ENSP00000222584:L722V	L	+	1	0	SP4	21517221	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.487000	0.81328	2.465000	0.83290	0.585000	0.79938	CTC		0.413	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2		NM_003112		38	41	0	0	0	0.019004	0	38	41		
OSBPL3	26031	broad.mit.edu	37	7	24911608	24911608	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:24911608C>T	ENST00000313367.2	-	3	628	c.177G>A	c.(175-177)ctG>ctA	p.L59L	OSBPL3_ENST00000352860.1_Silent_p.L59L|OSBPL3_ENST00000431825.2_Silent_p.L59L|OSBPL3_ENST00000409069.1_Silent_p.L59L|OSBPL3_ENST00000396431.1_Silent_p.L59L|OSBPL3_ENST00000396429.1_Silent_p.L59L|OSBPL3_ENST00000353930.1_Silent_p.L59L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	59	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCTCTTTTTCAGCAAAAATC	0.502																																						uc003sxf.2		NaN																	0				skin(1)	1						c.(175-177)CTG>CTA		oxysterol-binding protein-like protein 3 isoform							102.0	91.0	95.0					7																	24911608		2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24911608C>T	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.177G>A	7.37:g.24911608C>T						OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.L59L|OSBPL3_uc003sxh.2_Silent_p.L59L|OSBPL3_uc003sxi.2_Silent_p.L59L	p.L59L	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			3	582	-			59			PH.		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.177G>A	CCDS5390.1																																																																																				0.502	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2				28	61	0	0	0	0.008361	0	28	61		
POLM	27434	broad.mit.edu	37	7	44113402	44113402	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:44113402G>A	ENST00000242248.5	-	9	1395	c.1294C>T	c.(1294-1296)Ctc>Ttc	p.L432F	POLM_ENST00000492971.1_5'Flank|POLM_ENST00000395831.3_Missense_Mutation_p.L352F|POLM_ENST00000335195.6_Missense_Mutation_p.L395F	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	432					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GTCCAACCGAGCAGGGCGAAA	0.657								DNA polymerases (catalytic subunits)																														uc003tjt.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1294-1296)CTC>TTC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase mu							39.0	47.0	44.0					7																	44113402		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44113402G>A	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1294C>T	7.37:g.44113402G>A	ENSP00000242248:p.Leu432Phe					POLM_uc003tjw.1_Missense_Mutation_p.L51F|POLM_uc003tju.2_Missense_Mutation_p.L395F|POLM_uc003tjx.2_Missense_Mutation_p.L352F|POLM_uc003tjv.2_RNA|POLM_uc011kbt.1_Missense_Mutation_p.L82F	p.L432F	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN			9	1386	-			432					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.1294C>T	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015457	0.93404	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.53640	0.61;0.61;0.61	5.75	5.75	0.90469	DNA-directed DNA polymerase X (1);	0.064536	0.64402	D	0.000006	T	0.74465	0.3720	M	0.90759	3.145	0.33551	D	0.59611	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.84426	0.0574	10	0.87932	D	0	-28.7403	15.5026	0.75713	0.0:0.0:1.0:0.0	.	352;395;432	Q86WQ9;Q6P5X8;Q9NP87	.;.;DPOLM_HUMAN	F	395;432;352	ENSP00000335141:L395F;ENSP00000242248:L432F;ENSP00000379174:L352F	ENSP00000242248:L432F	L	-	1	0	POLM	44079927	1.000000	0.71417	0.740000	0.30986	0.874000	0.50279	6.176000	0.71955	2.722000	0.93159	0.650000	0.86243	CTC		0.657	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1		NM_013284		31	140	0	0	0	0.012213	0	31	140		
ASL	435	broad.mit.edu	37	7	65553885	65553885	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:65553885C>T	ENST00000304874.9	+	11	912	c.810C>T	c.(808-810)ttC>ttT	p.F270F	ASL_ENST00000380839.4_Silent_p.F244F|ASL_ENST00000395332.3_Silent_p.F270F|ASL_ENST00000395331.3_Silent_p.F270F|AC068533.7_ENST00000450043.1_Missense_Mutation_p.R39C	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	270					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	AATTCAGCTTCGTGCAGCTCT	0.617																																						uc003tuo.2		NaN																	0				breast(2)	2						c.(808-810)TTC>TTT		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						89.0	69.0	76.0					7																	65553885		2203	4300	6503	SO:0001819	synonymous_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65553885C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.810C>T	7.37:g.65553885C>T						ASL_uc003tup.2_Silent_p.F270F|ASL_uc003tur.2_Silent_p.F244F|ASL_uc003tuq.2_Silent_p.F270F	p.F270F	NM_000048	NP_000039	P04424	ARLY_HUMAN			11	921	+			270					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	c.810C>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	c	9.450	1.090356	0.20471	.	.	ENSG00000249319	ENST00000450043	.	.	.	5.82	-8.87	0.00792	.	.	.	.	.	T	0.51041	0.1651	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.60672	-0.7217	4	.	.	.	.	11.6383	0.51217	0.0:0.4983:0.1668:0.3349	.	.	.	.	C	39	.	.	R	+	1	0	AC068533.7	65191320	0.147000	0.22687	0.770000	0.31555	0.873000	0.50193	-0.588000	0.05774	-1.513000	0.01789	-0.459000	0.05422	CGT		0.617	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2		NM_000048		38	41	0	0	0	0.017118	0	38	41		
AGFG2	3268	broad.mit.edu	37	7	100151029	100151029	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:100151029C>T	ENST00000300176.4	+	4	613	c.491C>T	c.(490-492)cCt>cTt	p.P164L	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	164					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTCCACCCCTGTGCAGGGC	0.547																																						uc003uvf.2		NaN																	0				central_nervous_system(1)	1						c.(490-492)CCT>CTT		ArfGAP with FG repeats 2							93.0	94.0	94.0					7																	100151029		2203	4300	6503	SO:0001583	missense	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100151029C>T	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.491C>T	7.37:g.100151029C>T	ENSP00000300176:p.Pro164Leu					AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Silent_p.L26L	p.P164L	NM_006076	NP_006067	O95081	AGFG2_HUMAN			4	627	+			164					O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	c.491C>T	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598844	0.66332	.	.	ENSG00000106351	ENST00000300176	T	0.25579	1.79	5.0	5.0	0.66597	.	0.121122	0.64402	D	0.000018	T	0.47395	0.1443	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.24333	-1.0163	10	0.42905	T	0.14	-36.0199	16.2313	0.82344	0.0:1.0:0.0:0.0	.	164	O95081	AGFG2_HUMAN	L	164	ENSP00000300176:P164L	ENSP00000300176:P164L	P	+	2	0	AGFG2	99988965	0.351000	0.24887	0.926000	0.36857	0.877000	0.50540	2.385000	0.44371	2.783000	0.95769	0.644000	0.83932	CCT		0.547	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1		NM_006076		66	96	0	0	0	0.01441	0	66	96		
ELP3	55140	broad.mit.edu	37	8	27995406	27995406	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:27995406G>C	ENST00000256398.8	+	10	1475	c.1098G>C	c.(1096-1098)caG>caC	p.Q366H	ELP3_ENST00000537665.1_Missense_Mutation_p.Q247H|ELP3_ENST00000521015.1_Missense_Mutation_p.Q352H|ELP3_ENST00000380353.4_Missense_Mutation_p.Q274H|ELP3_ENST00000542181.1_Missense_Mutation_p.Q237H|ELP3_ENST00000524103.1_Missense_Mutation_p.Q294H	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	366					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		ACCGAGTACAGAGGTAGTGTG	0.408																																						uc003xgo.3		NaN																	0					0						c.(1096-1098)CAG>CAC		elongation protein 3 homolog							62.0	59.0	60.0					8																	27995406		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27995406G>C		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1098G>C	8.37:g.27995406G>C	ENSP00000256398:p.Gln366His					ELP3_uc003xgn.3_Missense_Mutation_p.Q351H|ELP3_uc011laq.1_Missense_Mutation_p.Q294H|ELP3_uc011lar.1_Missense_Mutation_p.Q274H|ELP3_uc011las.1_Missense_Mutation_p.Q247H|ELP3_uc011lat.1_Missense_Mutation_p.Q247H	p.Q366H	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	10	1246	+		Ovarian(32;0.0218)	366					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.1098G>C	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522736	0.64747	.	.	ENSG00000134014	ENST00000521015;ENST00000256398;ENST00000542181;ENST00000524103;ENST00000537665;ENST00000380353	.	.	.	5.63	2.9	0.33743	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	H	0.97440	4.005	0.54753	D	0.999988	P;P	0.49253	0.833;0.921	P;P	0.51453	0.592;0.67	T	0.81466	-0.0920	9	0.72032	D	0.01	-14.6579	9.3678	0.38234	0.2336:0.0:0.7664:0.0	.	247;366	B4DE19;Q9H9T3	.;ELP3_HUMAN	H	352;366;237;294;247;274	.	ENSP00000256398:Q366H	Q	+	3	2	ELP3	28051325	1.000000	0.71417	0.999000	0.59377	0.828000	0.46876	2.411000	0.44600	0.337000	0.23665	-0.150000	0.13652	CAG		0.408	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2		NM_018091		11	13	0	0	0	0.008291	0	11	13		
CYP7A1	1581	broad.mit.edu	37	8	59404977	59404977	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:59404977C>G	ENST00000301645.3	-	5	1287	c.1150G>C	c.(1150-1152)Gat>Cat	p.D384H		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	384					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATGATGTCATCTTTTCGGATG	0.468									Neonatal Giant Cell Hepatitis																													uc003xtm.3		NaN																	0				ovary(1)	1						c.(1150-1152)GAT>CAT		cytochrome P450, family 7, subfamily A,							178.0	156.0	164.0					8																	59404977		2203	4300	6503	SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404977C>G	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1150G>C	8.37:g.59404977C>G	ENSP00000301645:p.Asp384His						p.D384H	NM_000780	NP_000771	P22680	CP7A1_HUMAN			5	1213	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	384					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1150G>C	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925963	0.92319	.	.	ENSG00000167910	ENST00000301645	T	0.70749	-0.51	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.85474	0.5705	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.85613	0.1259	10	0.87932	D	0	-28.0212	20.6634	0.99662	0.0:1.0:0.0:0.0	.	384	P22680	CP7A1_HUMAN	H	384	ENSP00000301645:D384H	ENSP00000301645:D384H	D	-	1	0	CYP7A1	59567531	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.085000	0.71343	2.894000	0.99253	0.655000	0.94253	GAT		0.468	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1		NM_000780		52	73	0	0	0	0.01441	0	52	73		
CNBD1	168975	broad.mit.edu	37	8	87878760	87878760	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:87878760C>G	ENST00000518476.1	+	1	88	c.37C>G	c.(37-39)Cac>Gac	p.H13D		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	13										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TATTTTGTCTCACATGACAGC	0.443																																						uc003ydy.2		NaN																	0				ovary(3)	3						c.(37-39)CAC>GAC		cyclic nucleotide binding domain containing 1							109.0	100.0	103.0					8																	87878760		1960	4153	6113	SO:0001583	missense	168975							g.chr8:87878760C>G	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.37C>G	8.37:g.87878760C>G	ENSP00000430073:p.His13Asp						p.H13D	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			1	85	+			13						Missense_Mutation	SNP	ENST00000518476.1	37	c.37C>G	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	C	7.876	0.729195	0.15507	.	.	ENSG00000176571	ENST00000518476	T	0.18174	2.23	4.78	2.78	0.32641	.	0.313116	0.23268	N	0.050049	T	0.12518	0.0304	L	0.44542	1.39	0.19575	N	0.999962	P	0.43750	0.816	B	0.34590	0.186	T	0.17776	-1.0358	10	0.87932	D	0	.	9.3394	0.38071	0.3903:0.6097:0.0:0.0	.	13	Q8NA66	CNBD1_HUMAN	D	13	ENSP00000430073:H13D	ENSP00000430073:H13D	H	+	1	0	CNBD1	87947876	0.030000	0.19436	0.684000	0.30055	0.191000	0.23601	0.517000	0.22832	1.315000	0.45114	0.563000	0.77884	CAC		0.443	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2		NM_173538		12	13	0	0	0	0.016723	0	12	13		
TP53INP1	94241	broad.mit.edu	37	8	95953097	95953097	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:95953097C>G	ENST00000342697.4	-	2	480	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Missense_Mutation_p.E25Q|TP53INP1_ENST00000448464.2_Missense_Mutation_p.E25Q	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	25	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TCTTCTTTCTCATTGAATTCT	0.398																																						uc003yhg.2		NaN																	0					0						c.(73-75)GAG>CAG		tumor protein p53 inducible nuclear protein 1							185.0	160.0	169.0					8																	95953097		2203	4300	6503	SO:0001583	missense	94241				apoptosis	PML body		g.chr8:95953097C>G	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.73G>C	8.37:g.95953097C>G	ENSP00000344215:p.Glu25Gln					C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Missense_Mutation_p.E25Q	p.E25Q	NM_033285	NP_150601	Q96A56	T53I1_HUMAN			2	457	-	Breast(36;8.75e-07)		25			Glu-rich.		B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.73G>C	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239196	0.79800	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.50548	0.74;0.74;0.74	5.88	5.01	0.66863	.	0.138062	0.64402	D	0.000004	T	0.68723	0.3032	M	0.78049	2.395	0.51012	D	0.999908	D;D	0.76494	0.997;0.999	D;D	0.71656	0.922;0.974	T	0.73272	-0.4035	10	0.62326	D	0.03	-8.753	15.2303	0.73383	0.0:0.9326:0.0:0.0674	.	25;25	Q96A56-2;Q96A56	.;T53I1_HUMAN	Q	25	ENSP00000390063:E25Q;ENSP00000344215:E25Q;ENSP00000368052:E25Q	ENSP00000344215:E25Q	E	-	1	0	TP53INP1	96022273	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.905000	0.69893	1.502000	0.48669	0.561000	0.74099	GAG		0.398	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1				37	57	0	0	0	0.023175	0	37	57		
TG	7038	broad.mit.edu	37	8	134042190	134042190	+	Silent	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:134042190C>T	ENST00000220616.4	+	41	7201	c.7161C>T	c.(7159-7161)ggC>ggT	p.G2387G	TG_ENST00000377869.1_Silent_p.G2330G|TG_ENST00000519543.1_Silent_p.G520G|TG_ENST00000542445.1_Silent_p.G757G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2387					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGACCGTGGCGGGGCTGATG	0.647																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7159-7161)GGC>GGT		thyroglobulin precursor							62.0	62.0	62.0					8																	134042190		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042190C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7161C>T	8.37:g.134042190C>T						TG_uc010mdw.2_Silent_p.G1146G|TG_uc011ljb.1_Silent_p.G756G|TG_uc011ljc.1_Silent_p.G520G	p.G2387G	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7202	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2387					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.7161C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	9.182	1.023836	0.19433	.	.	ENSG00000042832	ENST00000519178;ENST00000518108	.	.	.	5.13	-7.78	0.01223	.	.	.	.	.	T	0.43787	0.1263	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.46665	-0.9175	4	.	.	.	.	5.456	0.16590	0.0899:0.2668:0.0895:0.5538	.	.	.	.	W	843;183	.	.	R	+	1	2	TG	134111372	0.000000	0.05858	0.225000	0.23894	0.923000	0.55619	-3.663000	0.00400	-1.665000	0.01477	-0.663000	0.03849	CGG		0.647	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		6	50	0	0	0	0.006214	0	6	50		
MAPK15	225689	broad.mit.edu	37	8	144803972	144803972	+	Silent	SNP	G	G	A	rs201444449	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:144803972G>A	ENST00000338033.4	+	13	1499	c.1380G>A	c.(1378-1380)gcG>gcA	p.A460A	RP11-429J17.5_ENST00000527908.1_RNA	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	460					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCAGGCTGCGGCTCAGGTGG	0.687													g|||	2	0.000399361	0.0015	0.0	5008	,	,		12966	0.0		0.0	False		,,,				2504	0.0					uc003yzj.2		NaN																	0				lung(2)	2						c.(1378-1380)GCG>GCA		mitogen-activated protein kinase 15							35.0	45.0	42.0					8																	144803972		2002	4136	6138	SO:0001819	synonymous_variant	225689				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding	g.chr8:144803972G>A	AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"""Mitogen-activated protein kinase cascade / Kinases"""	24667	protein-coding gene	gene with protein product	"""extracellular signal regulated kinase 8"""					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1380G>A	8.37:g.144803972G>A							p.A460A	NM_139021	NP_620590	Q8TD08	MK15_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		13	1421	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		460					Q2TCF9|Q8N362	Silent	SNP	ENST00000338033.4	37	c.1380G>A	CCDS6409.2																																																																																				0.687	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000300348.1		NM_139021		14	130	0	0	0	0.016723	0	14	130		
ZNF16	7564	broad.mit.edu	37	8	146171568	146171568	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr8:146171568C>T	ENST00000276816.4	-	3	211	c.25G>A	c.(25-27)Gag>Aag	p.E9K	ZNF16_ENST00000394909.2_Missense_Mutation_p.E9K	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	9					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|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(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCTGCCTCCTCACGGCGAGTT	0.592																																						uc003zet.2		NaN																	0				ovary(5)	5						c.(25-27)GAG>AAG		zinc finger protein 16							60.0	54.0	56.0					8																	146171568		2203	4299	6502	SO:0001583	missense	7564				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146171568C>T	X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.25G>A	8.37:g.146171568C>T	ENSP00000276816:p.Glu9Lys					ZNF16_uc003zeu.2_Missense_Mutation_p.E9K	p.E9K	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)	3	212	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	9					B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	ENST00000276816.4	37	c.25G>A	CCDS6437.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719674	0.30503	.	.	ENSG00000170631	ENST00000276816;ENST00000394909;ENST00000532351;ENST00000527811	T;T;T;T	0.53857	3.0;3.0;4.49;0.6	3.08	-3.46	0.04767	.	.	.	.	.	T	0.19366	0.0465	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	9	0.02654	T	1	.	0.9455	0.01365	0.1661:0.2371:0.1637:0.4331	.	9	P17020	ZNF16_HUMAN	K	9	ENSP00000276816:E9K;ENSP00000378369:E9K;ENSP00000434321:E9K;ENSP00000432755:E9K	ENSP00000276816:E9K	E	-	1	0	ZNF16	146142372	0.000000	0.05858	0.001000	0.08648	0.718000	0.41266	-0.414000	0.07114	-0.941000	0.03700	0.655000	0.94253	GAG		0.592	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382978.1		NM_006958		52	57	0	0	0	0.01441	0	52	57		
CNTLN	54875	broad.mit.edu	37	9	17466028	17466028	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:17466028C>T	ENST00000380647.3	+	22	3665	c.3581C>T	c.(3580-3582)tCa>tTa	p.S1194L	CNTLN_ENST00000262360.5_Missense_Mutation_p.S1194L|CNTLN_ENST00000425824.1_Missense_Mutation_p.S1194L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1194					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TCAATTGATTCACTAAAGCAA	0.299																																						uc003zmz.2		NaN																	0				pancreas(1)	1						c.(3577-3579)TCA>TTA		centlein isoform 1							88.0	82.0	84.0					9																	17466028		1828	4072	5900	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17466028C>T	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3581C>T	9.37:g.17466028C>T	ENSP00000370021:p.Ser1194Leu					CNTLN_uc003zmy.2_Missense_Mutation_p.S1194L|CNTLN_uc010mio.2_Missense_Mutation_p.S873L	p.S1193L	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	22	3604	+			1194			Potential.		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3578C>T	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589204	0.86851	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.55588	0.51;0.51;0.81	5.74	5.74	0.90152	.	.	.	.	.	T	0.73125	0.3547	M	0.71581	2.175	0.47547	D	0.999456	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71656	0.974;0.974;0.974	T	0.74213	-0.3738	9	0.66056	D	0.02	.	19.9329	0.97127	0.0:1.0:0.0:0.0	.	1194;1194;1194	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	L	1194	ENSP00000370021:S1194L;ENSP00000392798:S1194L;ENSP00000262360:S1194L	ENSP00000262360:S1194L	S	+	2	0	CNTLN	17456028	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.982000	0.70532	2.714000	0.92807	0.650000	0.86243	TCA		0.299	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3		NM_017738		27	6	0	0	0	0.027356	0	27	6		
ZNF658	26149	broad.mit.edu	37	9	40773179	40773179	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:40773179G>C	ENST00000602553.1	-	5	2390	c.2096C>G	c.(2095-2097)tCa>tGa	p.S699*	ZNF658_ENST00000377626.3_Nonsense_Mutation_p.S699*|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	699					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(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTGAGGGCTGAATTATGGGC	0.408																																						uc004abs.2		NaN																	0				ovary(1)	1						c.(2095-2097)TCA>TGA		zinc finger protein 658							88.0	100.0	96.0					9																	40773179		2120	4192	6312	SO:0001587	stop_gained	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773179G>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2096C>G	9.37:g.40773179G>C	ENSP00000473484:p.Ser699*					ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Nonsense_Mutation_p.S699*	p.S699*	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2248	-			699			C2H2-type 12.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Nonsense_Mutation	SNP	ENST00000602553.1	37	c.2096C>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	g	35	5.515592	0.96402	.	.	ENSG00000196409	ENST00000377626	.	.	.	1.87	1.87	0.25490	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	9.8105	0.40820	0.0:0.0:1.0:0.0	.	.	.	.	X	699	.	ENSP00000366853:S699X	S	-	2	0	ZNF658	40763179	0.000000	0.05858	0.004000	0.12327	0.990000	0.78478	0.342000	0.19926	1.374000	0.46228	0.518000	0.50308	TCA		0.408	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1		NM_033160		35	145	0	0	0	0.007835	0	35	145		
GOLGA2	2801	broad.mit.edu	37	9	131019750	131019750	+	Missense_Mutation	SNP	C	C	T	rs200657891	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:131019750C>T	ENST00000421699.2	-	25	2704	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E886K|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	898					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCATGCCACTCGTTGCGGTCG	0.662																																						uc011maw.1		NaN																	0				ovary(1)	1						c.(2692-2694)GAG>AAG		Golgi autoantigen, golgin subfamily a, 2							53.0	51.0	52.0					9																	131019750		2203	4300	6503	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131019750C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2692G>A	9.37:g.131019750C>T	ENSP00000416097:p.Glu898Lys					GOLGA2_uc010mxw.2_Missense_Mutation_p.E221K|GOLGA2_uc004buh.2_Intron	p.E898K	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			25	2705	-			898					Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2692G>A	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	16.96	3.265545	0.59431	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.36340	1.26	4.8	1.65	0.23941	.	0.166704	0.52532	N	0.000074	T	0.51517	0.1679	M	0.67953	2.075	0.42790	D	0.993899	D;D	0.89917	1.0;0.997	D;P	0.72982	0.979;0.9	T	0.46275	-0.9203	10	0.40728	T	0.16	.	9.3934	0.38388	0.0:0.6534:0.2709:0.0757	.	898;516	Q08379;Q08379-2	GOGA2_HUMAN;.	K	898;182	ENSP00000416097:E898K	ENSP00000342692:E182K	E	-	1	0	GOLGA2	130059571	0.955000	0.32602	0.003000	0.11579	0.001000	0.01503	2.143000	0.42187	0.410000	0.25675	-0.300000	0.09419	GAG		0.662	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486		47	7	0	0	0	0.01441	0	47	7		
SPIN4	139886	broad.mit.edu	37	X	62570437	62570437	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:62570437C>G	ENST00000335144.3	-	1	781	c.262G>C	c.(262-264)Gaa>Caa	p.E88Q	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Missense_Mutation_p.E70Q	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	88					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CGGTGCAGTTCTAGTCCATAC	0.488																																						uc004dvf.2		NaN																	0				ovary(1)|lung(1)	2						c.(262-264)GAA>CAA		spindlin family, member 4							52.0	51.0	52.0					X																	62570437		1999	4155	6154	SO:0001583	missense	139886				gamete generation			g.chrX:62570437C>G	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.262G>C	X.37:g.62570437C>G	ENSP00000334163:p.Glu88Gln						p.E88Q	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			1	782	-			88					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.262G>C	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	.	23.0	4.365132	0.82463	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.43294	0.95;0.95	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.71206	2.165	0.58432	D	0.999991	D	0.59767	0.986	P	0.52514	0.701	T	0.58429	-0.7638	10	0.49607	T	0.09	-65.1513	14.4289	0.67236	0.0:1.0:0.0:0.0	.	88	Q56A73	SPIN4_HUMAN	Q	70;88	ENSP00000364018:E70Q;ENSP00000334163:E88Q	ENSP00000334163:E88Q	E	-	1	0	SPIN4	62487162	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.428000	0.73383	2.203000	0.70933	0.422000	0.28245	GAA		0.488	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001012968		7	18	0	0	0	0.001984	0	7	18		
TAF1	6872	broad.mit.edu	37	X	70621446	70621446	+	Silent	SNP	A	A	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:70621446A>G	ENST00000373790.4	+	25	3903	c.3852A>G	c.(3850-3852)caA>caG	p.Q1284Q	TAF1_ENST00000449580.1_Silent_p.Q1284Q|TAF1_ENST00000423759.1_Silent_p.Q1305Q|TAF1_ENST00000276072.3_Silent_p.Q1305Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1284					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTATTATCAAACAAATGCGC	0.438																																						uc004dzu.3		NaN																	0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(3850-3852)CAA>CAG		TBP-associated factor 1 isoform 2							104.0	90.0	95.0					X																	70621446		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70621446A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3852A>G	X.37:g.70621446A>G						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.Q1305Q|TAF1_uc004dzv.3_Silent_p.Q458Q	p.Q1284Q	NM_138923	NP_620278	P21675	TAF1_HUMAN			25	3903	+	Renal(35;0.156)	all_lung(315;0.000321)	1284					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.3852A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	9.759	1.169687	0.21621	.	.	ENSG00000147133	ENST00000483985	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	T	0.71467	0.3343	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70887	-0.4750	4	.	.	.	.	15.024	0.71653	1.0:0.0:0.0:0.0	.	.	.	.	R	195	.	.	K	+	2	0	TAF1	70538171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.743000	0.55104	1.931000	0.55961	0.439000	0.28862	AAA		0.438	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2		NM_004606		17	60	0	0	0	0.028581	0	17	60		
ITM2A	9452	broad.mit.edu	37	X	78616969	78616969	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:78616969C>T	ENST00000373298.2	-	5	703	c.560G>A	c.(559-561)aGa>aAa	p.R187K	ITM2A_ENST00000434584.2_Missense_Mutation_p.R143K|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	187	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGCAGATATCTGCCACTCTA	0.343																																						uc004edh.2		NaN																	0				lung(2)	2						c.(559-561)AGA>AAA		integral membrane protein 2A							53.0	47.0	49.0					X																	78616969		2201	4297	6498	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78616969C>T	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.560G>A	X.37:g.78616969C>T	ENSP00000362395:p.Arg187Lys					ITM2A_uc011mqr.1_Missense_Mutation_p.R143K	p.R187K	NM_004867	NP_004858	O43736	ITM2A_HUMAN			5	895	-			187			BRICHOS.		B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.560G>A	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	C	3.367	-0.129222	0.06753	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.77750	-1.12;-1.12	4.5	-1.78	0.07957	BRICHOS (2);	0.275526	0.35970	N	0.002872	T	0.44808	0.1311	N	0.02011	-0.69	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38478	-0.9659	10	0.31617	T	0.26	-17.4096	6.552	0.22440	0.0:0.2226:0.5219:0.2554	.	143;187	B4E062;O43736	.;ITM2A_HUMAN	K	187;143	ENSP00000362395:R187K;ENSP00000415533:R143K	ENSP00000362395:R187K	R	-	2	0	ITM2A	78503625	1.000000	0.71417	0.101000	0.21167	0.022000	0.10575	2.459000	0.45023	-0.178000	0.10672	-0.503000	0.04515	AGA		0.343	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1		NM_004867		11	26	0	0	0	0.008291	0	11	26		
MCTS1	28985	broad.mit.edu	37	X	119739341	119739341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:119739341G>A	ENST00000371317.5	+	2	348	c.91G>A	c.(91-93)Gag>Aag	p.E31K	MCTS1_ENST00000371315.3_Missense_Mutation_p.E32K|MCTS1_ENST00000487133.1_3'UTR	NM_014060.2	NP_054779.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	31					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|formation of translation preinitiation complex (GO:0001731)|IRES-dependent translational initiation (GO:0002192)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|ribosome disassembly (GO:0032790)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TCAATTGATAGAGCAATTTCC	0.338																																						uc004esx.2		NaN																	0					0						c.(91-93)GAG>AAG		malignant T cell amplified sequence 1 isoform 1							99.0	100.0	100.0					X																	119739341		2203	4297	6500	SO:0001583	missense	28985				cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding	g.chrX:119739341G>A	AB034206	CCDS14601.1, CCDS48160.1	Xq24	2008-05-14			ENSG00000232119	ENSG00000232119			23357	protein-coding gene	gene with protein product		300587				9766643	Standard	NM_014060		Approved	MCT-1	uc011mub.2	Q9ULC4	OTTHUMG00000022303	ENST00000371317.5:c.91G>A	X.37:g.119739341G>A	ENSP00000360367:p.Glu31Lys					MCTS1_uc011mub.1_Missense_Mutation_p.E32K	p.E31K	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN			2	439	+			31					B4DGY2|Q502X6	Missense_Mutation	SNP	ENST00000371317.5	37	c.91G>A	CCDS14601.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.446501	0.43429	.	.	ENSG00000232119	ENST00000371317;ENST00000371315	T;T	0.47528	0.85;0.84	4.92	4.05	0.47172	.	0.158059	0.52532	D	0.000063	T	0.44808	0.1311	M	0.66939	2.045	0.53688	D	0.999977	B;B	0.15930	0.015;0.004	B;B	0.17979	0.02;0.011	T	0.38824	-0.9643	9	.	.	.	0.0	11.9697	0.53058	0.0883:0.0:0.9117:0.0	.	32;31	Q9ULC4-3;Q9ULC4	.;MCTS1_HUMAN	K	31;32	ENSP00000360367:E31K;ENSP00000360365:E32K	.	E	+	1	0	MCTS1	119623369	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.840000	0.86819	2.040000	0.60383	0.513000	0.50165	GAG		0.338	MCTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058110.1		NM_014060		75	9	0	0	0	0.01441	0	75	9		
F8	2157	broad.mit.edu	37	X	154194885	154194885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:154194885C>G	ENST00000360256.4	-	8	1287	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	363					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATAGTCTTCCGCTTCTTCA	0.413																																						uc004fmt.2		NaN																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(1087-1089)GAA>CAA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						184.0	144.0	158.0					X																	154194885		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154194885C>G	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1087G>C	X.37:g.154194885C>G	ENSP00000353393:p.Glu363Gln						p.E363Q	NM_000132	NP_000123	P00451	FA8_HUMAN			8	1258	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		363					Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1087G>C	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	6.863	0.528644	0.13127	.	.	ENSG00000185010	ENST00000360256	D	0.98822	-5.16	4.92	3.14	0.36123	.	0.254353	0.38164	N	0.001786	D	0.95494	0.8536	M	0.65975	2.015	0.09310	N	1	P	0.45902	0.868	B	0.30251	0.113	D	0.89149	0.3522	10	0.20519	T	0.43	-2.745	6.3315	0.21272	0.0:0.6703:0.1487:0.181	.	363	P00451	FA8_HUMAN	Q	363	ENSP00000353393:E363Q	ENSP00000353393:E363Q	E	-	1	0	F8	153848079	0.470000	0.25854	0.001000	0.08648	0.420000	0.31355	1.797000	0.38804	0.420000	0.25954	0.529000	0.55759	GAA		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4				44	6	0	0	0	0.011902	0	44	6		
CASZ1	54897	broad.mit.edu	37	1	10714109	10714109	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:10714109delG	ENST00000377022.3	-	11	2322	c.2005delC	c.(2005-2007)cacfs	p.H669fs	CASZ1_ENST00000344008.5_Frame_Shift_Del_p.H669fs|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	669					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGGATGCAGTGGAAGTGGTTG	0.607																																						uc001aro.2		NaN																	0				skin(1)	1						c.(2005-2007)CACfs		castor homolog 1, zinc finger isoform a							109.0	101.0	103.0					1																	10714109		2203	4300	6503	SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10714109delG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2005delC	1.37:g.10714109delG	ENSP00000366221:p.His669fs					CASZ1_uc001arp.1_Frame_Shift_Del_p.H669fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.H693fs	p.H669fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	11	2325	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	669			C2H2-type 3.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.2005delC	CCDS41246.1																																																																																				0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2		NM_017766		12	249	NaN	NaN	NaN	NaN	NaN	12	249	---	---
FBXO44	93611	broad.mit.edu	37	1	11721281	11721282	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr1:11721281_11721282insC	ENST00000251547.5	+	6	801_802	c.719_720insC	c.(718-723)ggcccgfs	p.GP240fs	FBXO44_ENST00000251546.4_Frame_Shift_Ins_p.P199fs|FBXO44_ENST00000376770.1_Frame_Shift_Ins_p.GP240fs|FBXO44_ENST00000376768.1_Frame_Shift_Ins_p.P231fs|FBXO6_ENST00000376753.4_5'Flank|FBXO44_ENST00000376760.1_Frame_Shift_Ins_p.P199fs|FBXO44_ENST00000376762.4_Frame_Shift_Ins_p.P199fs	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	240	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTGGTACGGCCCGAGGGTCA	0.634																																						uc001asm.2		NaN																	0				ovary(1)	1						c.(718-720)GGCfs		F-box protein 44 isoform 1																																				SO:0001589	frameshift_variant	93611				protein catabolic process	SCF ubiquitin ligase complex	protein binding	g.chr1:11721281_11721282insC	AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.722dupC	1.37:g.11721284_11721284dupC	ENSP00000251547:p.Gly240fs					FBXO44_uc001ask.2_Frame_Shift_Ins_p.R198fs|FBXO44_uc001asl.2_Frame_Shift_Ins_p.G240fs|FBXO44_uc001asn.2_Frame_Shift_Ins_p.R198fs|FBXO44_uc010oar.1_Frame_Shift_Ins_p.R230fs|FBXO44_uc010oas.1_Frame_Shift_Ins_p.G100fs|FBXO6_uc001aso.2_5'Flank	p.G240fs	NM_033182	NP_149438	Q9H4M3	FBX44_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	6	845_846	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	240			FBA.		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Frame_Shift_Ins	INS	ENST00000251547.5	37	c.719_720insC	CCDS132.1																																																																																				0.634	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1		NM_183412		7	275	NaN	NaN	NaN	NaN	NaN	7	275	---	---
GATA3	2625	broad.mit.edu	37	10	8115929	8115929	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr10:8115929delA	ENST00000346208.3	+	6	1730	c.1275delA	c.(1273-1275)ccafs	p.P425fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.P426fs			P23771	GATA3_HUMAN	GATA binding protein 3	425				P -> A (in Ref. 4; AAA35870). {ECO:0000305}.	anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.S427fs*>20(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TGCACCCGCCATCCAGCCTGT	0.662			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															uc001ika.2		NaN		Rec	yes		10	10p15	2625	F|N|S	GATA binding protein 3	yes	HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)	E			breast		1	Insertion - Frameshift(1)		breast(1)	breast(17)|ovary(3)|central_nervous_system(2)	22						c.(1273-1275)CCAfs		GATA binding protein 3 isoform 2							93.0	78.0	83.0					10																	8115929		2203	4300	6503	SO:0001589	frameshift_variant	2625				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr10:8115929delA	X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1275delA	10.37:g.8115929delA	ENSP00000341619:p.Pro425fs					GATA3_uc001ijz.2_Frame_Shift_Del_p.P426fs	p.P425fs	NM_002051	NP_002042	P23771	GATA3_HUMAN			6	1832	+			425	P -> A (in Ref. 4; AAA35870).				Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	ENST00000346208.3	37	c.1275delA	CCDS7083.1																																																																																				0.662	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1		NM_001002295		47	106	NaN	NaN	NaN	NaN	NaN	47	106	---	---
SSH3	54961	broad.mit.edu	37	11	67077296	67077312	+	Frame_Shift_Del	DEL	CACAGTGCTGGCCTATG	CACAGTGCTGGCCTATG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr11:67077296_67077312delCACAGTGCTGGCCTATG	ENST00000308127.4	+	12	1444_1460	c.1266_1282delCACAGTGCTGGCCTATG	c.(1264-1284)gccacagtgctggcctatgccfs	p.ATVLAYA422fs	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Frame_Shift_Del_p.ATVLAYA422fs	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	422	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTCAGCGGCCACAGTGCTGGCCTATGCCATGAAGCA	0.664																																						uc001okj.2		NaN																	0				ovary(1)	1						c.(1264-1284)GCCACAGTGCTGGCCTATGCCfs		slingshot homolog 3																																				SO:0001589	frameshift_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67077296_67077312delCACAGTGCTGGCCTATG	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1266_1282delCACAGTGCTGGCCTATG	11.37:g.67077296_67077312delCACAGTGCTGGCCTATG	ENSP00000312081:p.Ala422fs					SSH3_uc001okk.2_RNA|SSH3_uc001okl.2_Frame_Shift_Del_p.A276fs	p.A422fs	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		12	1444_1460	+			422_428			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Frame_Shift_Del	DEL	ENST00000308127.4	37	c.1266_1282delCACAGTGCTGGCCTATG	CCDS8157.1																																																																																				0.664	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1		NM_018276		58	247	NaN	NaN	NaN	NaN	NaN	58	247	---	---
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr15:59182564_59182565delCT	ENST00000380516.2	-	15	2081_2082	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	665	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475																																						uc002afp.2		NaN																	0				ovary(1)	1						c.(1993-1995)GAGfs		modulator of estrogen induced transcription																																				SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59182564_59182565delCT	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1994_1995delAG	15.37:g.59182574_59182575delCT	ENSP00000369887:p.Glu665fs					SLTM_uc002afn.2_Frame_Shift_Del_p.E207fs|SLTM_uc002afo.2_Frame_Shift_Del_p.E647fs|SLTM_uc002afq.2_Frame_Shift_Del_p.E234fs|SLTM_uc010bgd.2_Frame_Shift_Del_p.E234fs	p.E665fs	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			15	2082_2083	-			665			Arg/Glu-rich.|Potential.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.1994_1995delAG	CCDS10168.2																																																																																				0.475	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1		NM_024755		7	202	NaN	NaN	NaN	NaN	NaN	7	202	---	---
NPIPA1	9284	broad.mit.edu	37	16	15045471	15045471	+	Splice_Site	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr16:15045471delG	ENST00000328085.6	+	8	642		c.e8-1		NPIPA1_ENST00000472413.1_Splice_Site	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											TGGCCCTACAGGTCAGAATGG	0.483																																						uc002dcy.3		NaN																	0					0						c.e8-1		nuclear pore complex interacting protein							6.0	5.0	5.0					16																	15045471		884	1747	2631	SO:0001630	splice_region_variant	9284				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		g.chr16:15045471delG	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.643-1G>-	16.37:g.15045471delG						NPIP_uc002dcx.3_Splice_Site	p.V215_splice	NM_006985	NP_008916	Q9UND3	NPIP_HUMAN			8	643	+								O15102	Splice_Site	DEL	ENST00000328085.6	37	c.643_splice	CCDS10557.1																																																																																				0.483	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207326.2		NM_006985	Intron	17	4	NaN	NaN	NaN	NaN	NaN	17	4	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						uc002oim.2		NaN																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(358-363)CCCTCC>CCC		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_uc002oil.1_In_Frame_Del_p.S128del	p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	363_365	+	all_cancers(60;3.4e-06)		128			Ser-rich.		Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.359_361delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1		XM_351191		7	109	NaN	NaN	NaN	NaN	NaN	7	109	---	---
LILRB3	11025	broad.mit.edu	37	19	54723027	54723029	+	In_Frame_Del	DEL	CGT	CGT	-	rs201888124|rs61734492	byFrequency	TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr19:54723027_54723029delCGT	ENST00000391750.1	-	9	1531_1533	c.1395_1397delACG	c.(1393-1398)cgacgt>cgt	p.465_466RR>R	LILRB3_ENST00000245620.9_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000346401.6_In_Frame_Del_p.477_478RR>R|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000270464.5_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000424807.1_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_In_Frame_Del_p.465_466RR>R|LILRA6_ENST00000440558.2_In_Frame_Del_p.465_466RR>R|LILRB3_ENST00000407860.2_In_Frame_Del_p.482_483RR>R			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	465					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGCTGACGTCggaggagga	0.606														6	0.00119808	0.0008	0.0	5008	,	,		17374	0.0		0.005	False		,,,				2504	0.0					uc002qef.1		NaN																	0				skin(2)|ovary(1)	3						c.(1393-1398)CGACGT>CGT		leukocyte immunoglobulin-like receptor,			,	94,4170		14,66,2052					,	-5.6	0.0			131	715,7539		61,593,3473	no	coding,coding	LILRB3	NM_006864.2,NM_001081450.1	,	75,659,5525	A1A1,A1R,RR		8.6625,2.2045,6.4627	,	,		809,11709				SO:0001651	inframe_deletion	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54723027_54723029delCGT	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1395_1397delACG	19.37:g.54723027_54723029delCGT	ENSP00000375630:p.Arg466del					LILRB3_uc002qee.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeh.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_In_Frame_Del_p.465_466RR>R|LILRA6_uc002qek.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc010erh.1_In_Frame_Del_p.482_483RR>R|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_In_Frame_Del_p.465_466RR>R|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qep.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qeq.1_In_Frame_Del_p.465_466RR>R|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_In_Frame_Del_p.465_466RR>R	p.465_466RR>R	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	8	1506_1508	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		465_466			Cytoplasmic (Potential).		C9J1P3|C9JIP1|O15471|Q86U49	In_Frame_Del	DEL	ENST00000391750.1	37	c.1395_1397delACG	CCDS33105.1																																																																																				0.606	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5		NM_006864		11	103	NaN	NaN	NaN	NaN	NaN	11	103	---	---
CELSR1	9620	broad.mit.edu	37	22	46790119	46790120	+	Frame_Shift_Ins	INS	-	-	G	rs142032661		TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr22:46790119_46790120insG	ENST00000262738.3	-	14	5882_5883	c.5883_5884insC	c.(5881-5886)cccgtcfs	p.V1962fs		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1962	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTCCACAGACGGGGTTCCCCC	0.569																																						uc003bhw.1		NaN																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(5881-5886)CCCGTCfs		cadherin EGF LAG seven-pass G-type receptor 1																																				SO:0001589	frameshift_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46790119_46790120insG	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.5884dupC	22.37:g.46790123_46790123dupG	ENSP00000262738:p.Val1962fs					CELSR1_uc011arc.1_Frame_Shift_Ins_p.P282fs	p.P1961fs	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	14	5883_5884	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1961_1962			Extracellular (Potential).|EGF-like 7; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Ins	INS	ENST00000262738.3	37	c.5883_5884insC	CCDS14076.1																																																																																				0.569	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		8	139	NaN	NaN	NaN	NaN	NaN	8	139	---	---
MICALL2	79778	broad.mit.edu	37	7	1474248	1474249	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr7:1474248_1474249insT	ENST00000297508.7	-	17	2873_2874	c.2698_2699insA	c.(2698-2700)agcfs	p.S900fs	MICALL2_ENST00000405088.4_Frame_Shift_Ins_p.S688fs|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	900	Mediates interaction with RAB13 and is required for transition from the closed to the opened conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGAGGGGCTGCTTTTGCTTTTT	0.639																																						uc003skj.3		NaN																	0				central_nervous_system(1)	1						c.(2698-2700)AGCfs		MICAL-like 2 isoform 1																																				SO:0001589	frameshift_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1474248_1474249insT	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2699dupA	7.37:g.1474252_1474252dupT	ENSP00000297508:p.Ser900fs					MICALL2_uc003skh.3_Frame_Shift_Ins_p.K107fs|MICALL2_uc003ski.3_Frame_Shift_Ins_p.K385fs	p.S900fs	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	17	2845_2846	-		Ovarian(82;0.0253)	900					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Frame_Shift_Ins	INS	ENST00000297508.7	37	c.2698_2699insA	CCDS5324.1																																																																																				0.639	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2		NM_182924		7	238	NaN	NaN	NaN	NaN	NaN	7	238	---	---
PSIP1	11168	broad.mit.edu	37	9	15479597	15479609	+	Frame_Shift_Del	DEL	CGTCCTCTTTTAG	CGTCCTCTTTTAG	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chr9:15479597_15479609delCGTCCTCTTTTAG	ENST00000380733.4	-	7	876_888	c.533_545delCTAAAAGAGGACG	c.(532-546)cctaaaagaggacgafs	p.PKRGR178fs	PSIP1_ENST00000380738.4_Frame_Shift_Del_p.PKRGR178fs|PSIP1_ENST00000380716.4_Frame_Shift_Del_p.PKRGR178fs|PSIP1_ENST00000380715.1_Frame_Shift_Del_p.PKRGR178fs|PSIP1_ENST00000397519.2_Frame_Shift_Del_p.PKRGR178fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	178					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ACCTGCAGGTCGTCCTCTTTTAGGACTCACTTT	0.362																																						uc003zlv.3		NaN																	0				breast(1)	1						c.(532-546)CCTAAAAGAGGACGAfs		PC4 and SFRS1 interacting protein 1 isoform 2																																				SO:0001589	frameshift_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15479597_15479609delCGTCCTCTTTTAG	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.533_545delCTAAAAGAGGACG	9.37:g.15479597_15479609delCGTCCTCTTTTAG	ENSP00000370109:p.Pro178fs					PSIP1_uc003zlw.3_Frame_Shift_Del_p.P178fs|PSIP1_uc003zlz.3_Frame_Shift_Del_p.P178fs|PSIP1_uc003zma.3_Frame_Shift_Del_p.P169fs|PSIP1_uc003zly.2_Frame_Shift_Del_p.P178fs	p.P178fs	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	7	863_875	-			178_182					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Del	DEL	ENST00000380733.4	37	c.533_545delCTAAAAGAGGACG	CCDS6479.1																																																																																				0.362	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		NM_033222		10	17	NaN	NaN	NaN	NaN	NaN	10	17	---	---
KDM6A	7403	broad.mit.edu	37	X	44950110	44950110	+	Splice_Site	DEL	G	G	-			TCGA-DK-A1AG-01A-11D-A13W-08	TCGA-DK-A1AG-10A-01D-A13W-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	7d2a22eb-7344-4cba-ad7d-94c3f9ef3d7c	709c4655-20e7-46e3-b4c1-920c180abd6f	g.chrX:44950110delG	ENST00000377967.4	+	26	3919		c.e26+1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						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						AAATGATTAAGTAAGTCTTTT	0.348			"""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.e26+1		ubiquitously transcribed tetratricopeptide							140.0	126.0	131.0					X																	44950110		2203	4300	6503	SO:0001630	splice_region_variant	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:44950110delG	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.3878+1G>-	X.37:g.44950110delG						KDM6A_uc011mkz.1_Splice_Site_p.K1345_splice|KDM6A_uc011mla.1_Splice_Site_p.K1248_splice|KDM6A_uc011mlb.1_Splice_Site_p.K1300_splice|KDM6A_uc011mlc.1_Splice_Site_p.K997_splice|KDM6A_uc011mld.1_Splice_Site_p.K932_splice	p.K1293_splice	NM_021140	NP_066963	O15550	KDM6A_HUMAN			26	4253	+								Q52LL9|Q5JVQ7	Splice_Site	DEL	ENST00000377967.4	37	c.3878_splice	CCDS14265.1																																																																																				0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140	Intron	39	5	NaN	NaN	NaN	NaN	NaN	39	5	---	---
