#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
TAS1R3	83756	broad.mit.edu	37	1	1268732	1268732	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:1268732G>A	ENST00000339381.5	+	5	1605	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	525					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E525K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		TGTGGACTGCGAGGCGGGCAG	0.692																																						uc010nyk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1573-1575)GAG>AAG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						23.0	25.0	25.0					1																	1268732		2194	4293	6487	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268732G>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1573G>A	1.37:g.1268732G>A	ENSP00000344411:p.Glu525Lys						p.E525K	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	5	1573	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	525			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1573G>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.506439	0.00992	.	.	ENSG00000169962	ENST00000339381	D	0.89343	-2.5	4.42	0.324	0.15898	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.529823	0.19216	N	0.119815	T	0.67126	0.2860	N	0.04043	-0.29	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.53373	-0.8448	10	0.14252	T	0.57	.	1.4763	0.02427	0.4321:0.2338:0.2192:0.1149	.	525	Q7RTX0	TS1R3_HUMAN	K	525	ENSP00000344411:E525K	ENSP00000344411:E525K	E	+	1	0	TAS1R3	1258595	0.000000	0.05858	0.996000	0.52242	0.105000	0.19272	-0.169000	0.09911	0.109000	0.17891	-1.914000	0.00519	GAG		0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1				4	11	0	0	0	0.009096	0	4	11		
CCDC27	148870	broad.mit.edu	37	1	3670737	3670737	+	Missense_Mutation	SNP	G	G	A	rs370107628		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:3670737G>A	ENST00000294600.2	+	2	458	c.374G>A	c.(373-375)cGa>cAa	p.R125Q		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	125								p.R125Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ATGGAACTTCGAAGGGTCTTC	0.592																																						uc001akv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(373-375)CGA>CAA		coiled-coil domain containing 27		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	140.0	135.0	136.0		374	0.2	0.0	1		136	0,8600		0,0,4300	no	missense	CCDC27	NM_152492.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	125/657	3670737	1,13005	2203	4300	6503	SO:0001583	missense	148870							g.chr1:3670737G>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.374G>A	1.37:g.3670737G>A	ENSP00000294600:p.Arg125Gln						p.R125Q	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	2	455	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	125					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.374G>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904324	0.17760	2.27E-4	0.0	ENSG00000162592	ENST00000294600	T	0.23950	1.88	3.18	0.219	0.15274	.	0.205183	0.23789	N	0.044544	T	0.13114	0.0318	L	0.32530	0.975	0.09310	N	1	P	0.51057	0.941	B	0.35859	0.212	T	0.22068	-1.0227	10	0.87932	D	0	-7.3928	5.2864	0.15704	0.4059:0.0:0.5941:0.0	.	125	Q2M243	CCD27_HUMAN	Q	125	ENSP00000294600:R125Q	ENSP00000294600:R125Q	R	+	2	0	CCDC27	3660597	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.696000	0.25541	0.057000	0.16193	0.603000	0.83216	CGA		0.592	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1		NM_152492		27	139	0	0	0	0.00632	0	27	139		
AJAP1	55966	broad.mit.edu	37	1	4772146	4772146	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:4772146G>A	ENST00000378191.4	+	2	597	c.216G>A	c.(214-216)gcG>gcA	p.A72A	AJAP1_ENST00000378190.3_Silent_p.A72A|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	72					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A72A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACAGCCAGCGCGGGTCCCGG	0.771																																						uc001alm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)	1						c.(214-216)GCG>GCA		adherens junction associated protein 1							9.0	13.0	12.0					1																	4772146		1651	3572	5223	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772146G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.216G>A	1.37:g.4772146G>A						AJAP1_uc001aln.2_Silent_p.A72A	p.A72A	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	597	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	72			Extracellular (Potential).		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.216G>A	CCDS54.1																																																																																				0.771	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3		NM_018836		5	17	0	0	0	0.000602	0	5	17		
SPATA21	374955	broad.mit.edu	37	1	16735685	16735685	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:16735685C>T	ENST00000335496.1	-	7	1083	c.601G>A	c.(601-603)Gag>Aag	p.E201K	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.E178K	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	201							calcium ion binding (GO:0005509)	p.E201K(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGGCTCTGCTCTTCCGGCTCC	0.627																																						uc001ayn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(601-603)GAG>AAG		spermatogenesis associated 21							72.0	58.0	63.0					1																	16735685		2203	4300	6503	SO:0001583	missense	374955						calcium ion binding	g.chr1:16735685C>T		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.601G>A	1.37:g.16735685C>T	ENSP00000335612:p.Glu201Lys					SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.E178K	p.E201K	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	7	1084	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	201			Potential.		B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.601G>A	CCDS172.1	.	.	.	.	.	.	.	.	.	.	c	16.15	3.041502	0.55003	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.67523	-0.27;-0.24	4.0	1.53	0.23141	.	0.525074	0.16016	N	0.233542	T	0.57431	0.2053	L	0.34521	1.04	0.09310	N	1	P;P	0.44139	0.827;0.734	P;B	0.46543	0.52;0.257	T	0.48692	-0.9013	10	0.52906	T	0.07	.	7.4427	0.27192	0.283:0.5629:0.1541:0.0	.	178;201	F5GXP5;Q7Z572	.;SPT21_HUMAN	K	201;178	ENSP00000335612:E201K;ENSP00000440046:E178K	ENSP00000335612:E201K	E	-	1	0	SPATA21	16608272	0.004000	0.15560	0.002000	0.10522	0.151000	0.21798	1.579000	0.36536	0.424000	0.26061	0.443000	0.29094	GAG		0.627	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2		NM_198546		3	36	0	0	0	0.004672	0	3	36		
PADI2	11240	broad.mit.edu	37	1	17413062	17413062	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:17413062G>C	ENST00000375486.4	-	7	851	c.788C>G	c.(787-789)tCa>tGa	p.S263*	PADI2_ENST00000444885.2_Missense_Mutation_p.Q182E|PADI2_ENST00000375481.1_Nonsense_Mutation_p.S263*	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	263					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.S263*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GACCAGGCCTGAGAAGCCCTC	0.652																																						uc001baf.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(787-789)TCA>TGA		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						42.0	43.0	43.0					1																	17413062		2203	4300	6503	SO:0001587	stop_gained	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17413062G>C	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.788C>G	1.37:g.17413062G>C	ENSP00000364635:p.Ser263*					PADI2_uc010ocm.1_Missense_Mutation_p.Q182E|PADI2_uc001bag.1_Nonsense_Mutation_p.S263*	p.S263*	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	7	870	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	263					Q96DA7|Q9UPN2	Nonsense_Mutation	SNP	ENST00000375486.4	37	c.788C>G	CCDS177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.335102|5.335102	0.95758|0.95758	.|.	.|.	ENSG00000117115|ENSG00000117115	ENST00000444885|ENST00000375486;ENST00000375481	T|.	0.04970|.	3.52|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.929431	.|0.09240	.|N	.|0.829354	T|.	0.37785|.	0.1016|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.11235|.	0.004|.	B|.	0.14023|.	0.01|.	T|.	0.23154|.	-1.0196|.	8|.	0.22706|0.23302	T|T	0.39|0.38	0.119|0.119	12.1938|12.1938	0.54286|0.54286	0.0:0.0:0.8293:0.1707|0.0:0.0:0.8293:0.1707	.|.	182|.	B4DIU3|.	.|.	E|X	182|263	ENSP00000405894:Q182E|.	ENSP00000405894:Q182E|ENSP00000364630:S263X	Q|S	-|-	1|2	0|0	PADI2|PADI2	17285649|17285649	0.026000|0.026000	0.19158|0.19158	0.692000|0.692000	0.30179|0.30179	0.974000|0.974000	0.67602|0.67602	2.156000|2.156000	0.42310|0.42310	2.359000|2.359000	0.80004|0.80004	0.460000|0.460000	0.39030|0.39030	CAG|TCA		0.652	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1				6	33	0	0	0	0.001984	0	6	33		
PQLC2	54896	broad.mit.edu	37	1	19653820	19653820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:19653820G>A	ENST00000375153.3	+	7	1358	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PQLC2_ENST00000400548.2_Missense_Mutation_p.E175K|PQLC2_ENST00000375155.3_Missense_Mutation_p.E240K	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	240	PQ-loop 2.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)	p.E240K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAAAACCCCGAGGAGGGCCA	0.637																																						uc001bby.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(718-720)GAG>AAG		PQ loop repeat containing 2 isoform 1							63.0	59.0	61.0					1																	19653820		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19653820G>A	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.718G>A	1.37:g.19653820G>A	ENSP00000364295:p.Glu240Lys					PQLC2_uc001bbz.2_Missense_Mutation_p.E175K|PQLC2_uc001bca.2_Missense_Mutation_p.E240K|PQLC2_uc001bcb.2_Missense_Mutation_p.E129K|PQLC2_uc001bcc.2_Missense_Mutation_p.E129K	p.E240K	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	8	1070	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	240			PQ-loop 2.|Extracellular (Potential).		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.718G>A	CCDS195.2	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346509	0.61073	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548	D;D;D	0.98178	-4.77;-4.77;-4.77	5.16	5.16	0.70880	.	0.313519	0.38164	N	0.001787	D	0.96225	0.8769	M	0.69185	2.1	0.45490	D	0.998459	P	0.44044	0.825	B	0.32583	0.148	D	0.95812	0.8842	10	0.24483	T	0.36	-6.2215	16.1396	0.81513	0.0:0.0:1.0:0.0	.	240	Q6ZP29	PQLC2_HUMAN	K	240;240;175	ENSP00000364297:E240K;ENSP00000364295:E240K;ENSP00000383395:E175K	ENSP00000364295:E240K	E	+	1	0	PQLC2	19526407	1.000000	0.71417	0.990000	0.47175	0.957000	0.61999	5.536000	0.67180	2.414000	0.81942	0.484000	0.47621	GAG		0.637	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1		NM_017765		14	41	0	0	0	0.003163	0	14	41		
EIF4G3	8672	broad.mit.edu	37	1	21307591	21307591	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:21307591G>A	ENST00000264211.8	-	3	354	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	EIF4G3_ENST00000356916.3_Silent_p.L65L|EIF4G3_ENST00000374935.3_Silent_p.L54L|EIF4G3_ENST00000602326.1_Silent_p.L61L|EIF4G3_ENST00000400422.1_Silent_p.L54L|EIF4G3_ENST00000374937.3_Silent_p.L61L|EIF4G3_ENST00000374927.4_Silent_p.L54L	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	54					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L54L(1)|p.L61L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGCATGGGCAGATGGTTAACC	0.517																																						uc001bec.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)	1						c.(160-162)CTG>TTG		eukaryotic translation initiation factor 4							128.0	107.0	114.0					1																	21307591		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21307591G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.160C>T	1.37:g.21307591G>A						EIF4G3_uc010odj.1_Silent_p.L54L|EIF4G3_uc009vpz.2_Silent_p.L54L|EIF4G3_uc001bed.2_Silent_p.L54L|EIF4G3_uc001bef.2_Silent_p.L54L|EIF4G3_uc001bee.2_Silent_p.L61L|EIF4G3_uc001beg.2_Silent_p.L54L|EIF4G3_uc010odk.1_Silent_p.L54L|EIF4G3_uc001beh.2_Silent_p.L65L	p.L54L	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	4	416	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	54					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.160C>T	CCDS214.1																																																																																				0.517	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		13	45	0	0	0	0.001855	0	13	45		
ARID1A	8289	broad.mit.edu	37	1	27087921	27087921	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:27087921C>T	ENST00000324856.7	+	6	2579	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	ARID1A_ENST00000457599.2_Silent_p.I736I|ARID1A_ENST00000374152.2_Silent_p.I353I|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	736					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.I736I(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGGACAGCATCATGCATCCTT	0.547			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - coding silent(1)		urinary_tract(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2206-2208)ATC>ATT		AT rich interactive domain 1A isoform a							96.0	87.0	90.0					1																	27087921		2203	4300	6503	SO:0001819	synonymous_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087921C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2208C>T	1.37:g.27087921C>T						ARID1A_uc001bmt.1_Silent_p.I736I|ARID1A_uc001bmu.1_Silent_p.I736I|ARID1A_uc001bmw.1_Silent_p.I353I	p.I736I	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	6	2581	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	736					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.2208C>T	CCDS285.1																																																																																				0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		13	40	0	0	0	0.004007	0	13	40		
WASF2	10163	broad.mit.edu	37	1	27744801	27744801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:27744801G>A	ENST00000430629.2	-	4	603	c.388C>T	c.(388-390)Cct>Tct	p.P130S	WASF2_ENST00000536657.1_Missense_Mutation_p.P130S	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	130					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)	p.P130S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AGAGGGGGAGGAGTATCACAG	0.423																																						uc001bof.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(388-390)CCT>TCT		WAS protein family, member 2							103.0	101.0	102.0					1																	27744801		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27744801G>A	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.388C>T	1.37:g.27744801G>A	ENSP00000396211:p.Pro130Ser					WASF2_uc010ofl.1_Missense_Mutation_p.P130S	p.P130S	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	4	604	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	130					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.388C>T	CCDS304.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449566	0.63178	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.39997	1.05;1.05	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.919;0.997	T	0.80034	-0.1551	10	0.87932	D	0	-3.1405	18.7332	0.91744	0.0:0.0:1.0:0.0	.	130;130	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	S	130	ENSP00000396211:P130S;ENSP00000439883:P130S	ENSP00000396211:P130S	P	-	1	0	WASF2	27617388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.281000	0.95811	2.519000	0.84933	0.655000	0.94253	CCT		0.423	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1		NM_006990		9	28	0	0	0	0.004482	0	9	28		
OPRD1	4985	broad.mit.edu	37	1	29185686	29185686	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:29185686G>T	ENST00000234961.2	+	2	690	c.448G>T	c.(448-450)Gtc>Ttc	p.V150F		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	150					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)	p.V150F(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTACATCGCTGTCTGCCACCC	0.577																																						uc001brf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(448-450)GTC>TTC		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						129.0	98.0	109.0					1																	29185686		2203	4300	6503	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29185686G>T	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.448G>T	1.37:g.29185686G>T	ENSP00000234961:p.Val150Phe						p.V150F	NM_000911	NP_000902	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	2	690	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	150			Cytoplasmic (Potential).		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.448G>T	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570745	0.86542	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.77750	-1.12	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.92280	0.7551	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94854	0.8016	10	0.87932	D	0	.	14.8953	0.70639	0.0:0.0:1.0:0.0	.	150	P41143	OPRD_HUMAN	F	150	ENSP00000234961:V150F	ENSP00000234961:V150F	V	+	1	0	OPRD1	29058273	1.000000	0.71417	0.981000	0.43875	0.975000	0.68041	9.657000	0.98554	2.375000	0.81037	0.462000	0.41574	GTC		0.577	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1		NM_000911		10	40	1	0	4.68919e-08	0.008291	4.93976e-08	10	40		
MACF1	23499	broad.mit.edu	37	1	39797292	39797292	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:39797292C>G	ENST00000372915.3	+	36	5134	c.5047C>G	c.(5047-5049)Caa>Gaa	p.Q1683E	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.Q1678E|MACF1_ENST00000289893.4_Missense_Mutation_p.Q118E|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.Q1715E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1683					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q118E(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCTTTTCATCAAGGCCTCAT	0.413																																						uc010oiu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(352-354)CAA>GAA		microfilament and actin filament cross-linker							85.0	86.0	86.0					1																	39797292		2200	4300	6500	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797292C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.5047C>G	1.37:g.39797292C>G	ENSP00000362006:p.Gln1683Glu					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.Q118E	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	483	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1683			Plectin 2.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.352C>G		.	.	.	.	.	.	.	.	.	.	C	11.64	1.698576	0.30142	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.74315	-0.83;-0.83	5.53	4.56	0.56223	.	0.384243	0.23180	N	0.051038	T	0.61337	0.2339	L	0.31526	0.94	0.58432	D	0.99999	B	0.06786	0.001	B	0.08055	0.003	T	0.60697	-0.7212	10	0.62326	D	0.03	.	9.1952	0.37224	0.1278:0.5834:0.2888:0.0	.	1683	Q9UPN3	MACF1_HUMAN	E	1683;118	ENSP00000362006:Q1683E;ENSP00000289893:Q118E	ENSP00000289893:Q118E	Q	+	1	0	MACF1	39569879	0.079000	0.21365	0.999000	0.59377	0.980000	0.70556	0.577000	0.23758	2.597000	0.87782	0.557000	0.71058	CAA		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		5	551	0	0	0	0.000602	0	5	551		
MACF1	23499	broad.mit.edu	37	1	39827347	39827347	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:39827347C>T	ENST00000372915.3	+	48	12871	c.12784C>T	c.(12784-12786)Cag>Tag	p.Q4262*	MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2195*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2195*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2195*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.Q4257*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q2697*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2195*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4294*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4262					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q2195*(1)|p.Q2697*(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAACAGATCCAGGTGAGGAT	0.458																																						uc010oiu.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(8089-8091)CAG>TAG		microfilament and actin filament cross-linker							67.0	68.0	67.0					1																	39827347		2203	4300	6503	SO:0001587	stop_gained	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39827347C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12784C>T	1.37:g.39827347C>T	ENSP00000362006:p.Gln4262*					MACF1_uc010ois.1_Nonsense_Mutation_p.Q2195*|MACF1_uc001cda.1_Nonsense_Mutation_p.Q2103*|MACF1_uc001cdc.1_Nonsense_Mutation_p.Q1282*|MACF1_uc001cdb.1_Nonsense_Mutation_p.Q1282*	p.Q2697*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	8220	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4262			LRR 15.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.8089C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.769184|9.769184	0.99259|0.99259	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.64402	.|D	.|0.000014	T|.	0.71745|.	0.3376|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69217|.	-0.5203|.	4|.	.|0.40728	.|T	.|0.16	.|.	15.1351|15.1351	0.72558|0.72558	0.1413:0.8587:0.0:0.0|0.1413:0.8587:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1328|2195;4262;2195;2195;2195;2697	.|.	.|ENSP00000289893:Q2697X	P|Q	+|+	2|1	0|0	MACF1|MACF1	39599934|39599934	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.953000|2.953000	0.49105|0.49105	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	CCA|CAG		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		299	46	0	0	0	0.00361	0	299	46		
TRIT1	54802	broad.mit.edu	37	1	40310268	40310268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40310268C>T	ENST00000316891.5	-	9	1065	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000541099.1_5'UTR|TRIT1_ENST00000372818.1_Missense_Mutation_p.D325N|TRIT1_ENST00000441669.2_Missense_Mutation_p.D269N|TRIT1_ENST00000537440.1_Missense_Mutation_p.D47N|TRIT1_ENST00000537223.1_Missense_Mutation_p.D47N|TRIT1_ENST00000545233.1_Missense_Mutation_p.D105N	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	351					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|tRNA dimethylallyltransferase activity (GO:0052381)	p.D351N(1)		breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCGAGACATCAGATACCTCT	0.433																																						uc010oiz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1051-1053)GAT>AAT		tRNA isopentenyltransferase 1 precursor							71.0	66.0	68.0					1																	40310268		2203	4300	6503	SO:0001583	missense	54802				tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity	g.chr1:40310268C>T	AF074918	CCDS30681.1	1p34.2	2012-10-05			ENSG00000043514	ENSG00000043514	2.5.1.8		20286	protein-coding gene	gene with protein product						11111046, 15870694	Standard	NM_017646		Approved	FLJ20061, IPT	uc021olz.1	Q9H3H1	OTTHUMG00000009245	ENST00000316891.5:c.1051G>A	1.37:g.40310268C>T	ENSP00000321810:p.Asp351Asn					TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.D47N|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.D105N|TRIT1_uc001ceh.3_Missense_Mutation_p.D105N|TRIT1_uc009vvv.2_Missense_Mutation_p.D184N|TRIT1_uc001cei.3_Missense_Mutation_p.D105N|TRIT1_uc001ceq.2_Missense_Mutation_p.D47N|TRIT1_uc001cek.2_Missense_Mutation_p.D47N|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.D269N|TRIT1_uc001cen.2_Missense_Mutation_p.D105N|TRIT1_uc001ceo.2_Missense_Mutation_p.D105N|TRIT1_uc001cep.2_Missense_Mutation_p.D105N	p.D351N	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		9	1065	-	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	351					A1A4X7|Q3T7B5|Q5QPK5|Q5QPK6|Q6IAC9|Q96FJ3|Q96L45|Q9NXT7	Missense_Mutation	SNP	ENST00000316891.5	37	c.1051G>A	CCDS30681.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710566	0.89112	.	.	ENSG00000043514	ENST00000046894;ENST00000372825;ENST00000441669;ENST00000316891;ENST00000372818;ENST00000534869;ENST00000545233;ENST00000537440;ENST00000537223	T;T	0.57436	0.74;0.4	6.04	6.04	0.98038	.	0.081669	0.85682	D	0.000000	T	0.67192	0.2867	M	0.71871	2.18	0.80722	D	1	B;P;D;D	0.58970	0.188;0.938;0.984;0.973	B;P;P;P	0.54460	0.109;0.664;0.753;0.685	T	0.61471	-0.7056	10	0.30078	T	0.28	-19.722	20.5792	0.99380	0.0:1.0:0.0:0.0	.	351;325;269;47	Q9H3H1;Q9H3H1-4;Q9H3H1-5;Q3T7B5	MOD5_HUMAN;.;.;.	N	325;269;263;351;325;244;105;47;47	ENSP00000321810:D351N;ENSP00000361905:D325N	ENSP00000046894:D325N	D	-	1	0	TRIT1	40082855	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.565000	0.73974	2.873000	0.98535	0.561000	0.74099	GAT		0.433	TRIT1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025627.2		NM_017646		6	265	0	0	0	0.001984	0	6	265		
CCDC30	728621	broad.mit.edu	37	1	43011099	43011099	+	Missense_Mutation	SNP	G	G	C	rs12746482		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:43011099G>C	ENST00000340612.4	+	3	274	c.274G>C	c.(274-276)Gaa>Caa	p.E92Q	CCDC30_ENST00000428554.2_Missense_Mutation_p.E92Q|CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E92Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	92						extracellular vesicular exosome (GO:0070062)		p.E92Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCTTTCACAAGAATTTGCACA	0.289																																						uc009vwk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(274-276)GAA>CAA		coiled-coil domain containing 30							51.0	58.0	56.0					1																	43011099		2199	4298	6497	SO:0001583	missense	728621							g.chr1:43011099G>C	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.274G>C	1.37:g.43011099G>C	ENSP00000340378:p.Glu92Gln					CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Intron	p.E92Q	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN			4	384	+			92			Potential.		Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	c.274G>C	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184450	0.38609	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000342022	T;T;T	0.50813	0.73;0.73;0.73	4.71	3.73	0.42828	.	0.358568	0.29059	N	0.013278	T	0.37812	0.1017	L	0.43152	1.355	0.80722	D	1	P	0.46142	0.873	B	0.40066	0.318	T	0.19289	-1.0310	10	0.32370	T	0.25	.	11.6466	0.51265	0.0:0.1975:0.8025:0.0	.	92	Q5VVM6	CCD30_HUMAN	Q	92	ENSP00000397035:E92Q;ENSP00000340378:E92Q;ENSP00000339280:E92Q	ENSP00000340378:E92Q	E	+	1	0	CCDC30	42783686	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.693000	0.37742	2.156000	0.67533	0.462000	0.41574	GAA		0.289	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3		NM_025030		5	412	0	0	0	0.000602	0	5	412		
ELAVL4	1996	broad.mit.edu	37	1	50666507	50666507	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:50666507C>T	ENST00000371823.4	+	7	1024	c.800C>T	c.(799-801)tCt>tTt	p.S267F	ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000371821.1_Missense_Mutation_p.S272F|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000357083.4_Intron	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	267					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S267F(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GTCCCCCCTTCTGCTTGTCCC	0.522																																						uc001csb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(799-801)TCT>TTT		ELAV-like 4 isoform 1							131.0	138.0	136.0					1																	50666507		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666507C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.800C>T	1.37:g.50666507C>T	ENSP00000360888:p.Ser267Phe					ELAVL4_uc001cry.3_Intron|ELAVL4_uc001crz.3_Intron|ELAVL4_uc001csa.3_Intron|ELAVL4_uc001csc.3_Intron|ELAVL4_uc010omz.1_Intron	p.S267F	NM_021952	NP_068771	P26378	ELAV4_HUMAN			7	1068	+			267					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.800C>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872028	0.51695	.	.	ENSG00000162374	ENST00000371823;ENST00000371821	T;T	0.10005	2.93;2.92	5.37	5.37	0.77165	.	0.146929	0.42964	D	0.000621	T	0.05456	0.0144	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.11329	0.006	T	0.31138	-0.9954	10	0.49607	T	0.09	.	6.4677	0.21991	0.0:0.7933:0.0:0.2067	.	267	P26378	ELAV4_HUMAN	F	267;272	ENSP00000360888:S267F;ENSP00000360886:S272F	ENSP00000360886:S272F	S	+	2	0	ELAVL4	50439094	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.971000	0.40530	2.780000	0.95670	0.655000	0.94253	TCT		0.522	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1		NM_021952		16	60	0	0	0	0.00499	0	16	60		
TTC39A	22996	broad.mit.edu	37	1	51778567	51778567	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:51778567C>G	ENST00000447632.2	-	3	246	c.198G>C	c.(196-198)gaG>gaC	p.E66D	TTC39A_ENST00000262675.7_Missense_Mutation_p.E38D|TTC39A_ENST00000371747.3_Missense_Mutation_p.E65D|TTC39A_ENST00000413473.2_Missense_Mutation_p.E69D|TTC39A_ENST00000371750.5_Missense_Mutation_p.E66D|TTC39A_ENST00000451380.1_Missense_Mutation_p.E65D|TTC39A_ENST00000262676.5_Missense_Mutation_p.E62D			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	66								p.0?(2)|p.E38D(1)|p.E66D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGGCCTGCATCTCCAGGATGG	0.542																																						uc001csl.2		NaN																	4	Substitution - Missense(2)|Whole gene deletion(2)		urinary_tract(2)|thyroid(1)|central_nervous_system(1)	skin(1)	1						c.(196-198)GAG>GAC		tetratricopeptide repeat domain 39A isoform 2							268.0	264.0	265.0					1																	51778567		2137	4249	6386	SO:0001583	missense	22996						binding	g.chr1:51778567C>G	AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.198G>C	1.37:g.51778567C>G	ENSP00000393952:p.Glu66Asp					TTC39A_uc001csk.2_Missense_Mutation_p.E66D|TTC39A_uc010ond.1_Missense_Mutation_p.E38D|TTC39A_uc010one.1_Missense_Mutation_p.E65D|TTC39A_uc010onf.1_Missense_Mutation_p.E69D|TTC39A_uc001csn.2_Missense_Mutation_p.E65D|TTC39A_uc001cso.1_Missense_Mutation_p.E62D|TTC39A_uc009vyy.1_Missense_Mutation_p.E38D	p.E66D	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN			3	303	-			66					B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	ENST00000447632.2	37	c.198G>C		.	.	.	.	.	.	.	.	.	.	C	16.76	3.213404	0.58452	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925;ENST00000380849;ENST00000401051;ENST00000532836;ENST00000527205	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	4.76	2.47	0.30058	.	0.056122	0.64402	D	0.000002	T	0.53769	0.1817	M	0.72479	2.2	0.43263	D	0.995201	B;B;P;D;P;P;P	0.69078	0.391;0.445;0.929;0.997;0.929;0.697;0.913	B;B;P;D;P;B;P	0.65874	0.185;0.281;0.808;0.939;0.808;0.281;0.708	T	0.53767	-0.8392	10	0.54805	T	0.06	-8.3833	4.6899	0.12776	0.0:0.5597:0.0:0.4403	.	69;65;38;62;65;66;66	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	D	66;69;38;65;66;65;62;38;65;38;38;69;38;93	ENSP00000393952:E66D;ENSP00000406144:E69D;ENSP00000262675:E38D;ENSP00000397207:E65D;ENSP00000360815:E66D;ENSP00000360812:E65D;ENSP00000262676:E62D;ENSP00000408532:E38D;ENSP00000405803:E65D;ENSP00000388995:E38D;ENSP00000370230:E38D;ENSP00000383830:E69D;ENSP00000434483:E38D;ENSP00000432453:E93D	ENSP00000262675:E38D	E	-	3	2	TTC39A	51551155	0.992000	0.36948	1.000000	0.80357	0.962000	0.63368	0.205000	0.17356	1.171000	0.42768	0.313000	0.20887	GAG		0.542	TTC39A-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000022434.2				32	136	0	0	0	0.010818	0	32	136		
FAM73A	374986	broad.mit.edu	37	1	78249010	78249010	+	Missense_Mutation	SNP	C	C	G	rs146841294	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:78249010C>G	ENST00000370791.3	+	2	201	c.169C>G	c.(169-171)Ctg>Gtg	p.L57V	FAM73A_ENST00000443751.2_Intron	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	57						integral component of membrane (GO:0016021)		p.L57V(1)		breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGATCTTCCTCTGACTTGGTA	0.358																																						uc001dhx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(169-171)CTG>GTG		hypothetical protein LOC374986							141.0	135.0	137.0					1																	78249010		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78249010C>G		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.169C>G	1.37:g.78249010C>G	ENSP00000359827:p.Leu57Val					FAM73A_uc010ork.1_Missense_Mutation_p.L57V|FAM73A_uc010orl.1_Intron	p.L57V	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	2	201	+			57					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.169C>G	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	1.747	-0.490113	0.04322	.	.	ENSG00000180488	ENST00000370791	T	0.21361	2.01	5.47	2.5	0.30297	.	0.218448	0.39834	N	0.001259	T	0.02304	0.0071	N	0.04880	-0.145	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.43572	-0.9383	10	0.02654	T	1	-4.3998	10.4093	0.44282	0.0:0.5368:0.3925:0.0708	.	57;57	B7ZLZ8;Q8NAN2	.;FA73A_HUMAN	V	57	ENSP00000359827:L57V	ENSP00000359827:L57V	L	+	1	2	FAM73A	78021598	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.551000	0.36233	0.332000	0.23536	0.561000	0.74099	CTG		0.358	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1		NM_198549		21	325	0	0	0	0.002299	0	21	325		
LPHN2	23266	broad.mit.edu	37	1	82456581	82456581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:82456581C>G	ENST00000370728.1	+	25	4777	c.4132C>G	c.(4132-4134)Ctt>Gtt	p.L1378V	LPHN2_ENST00000370721.1_Missense_Mutation_p.L1303V|LPHN2_ENST00000319517.6_Missense_Mutation_p.L1322V|LPHN2_ENST00000335786.5_Missense_Mutation_p.L1335V|LPHN2_ENST00000370725.1_Missense_Mutation_p.L1393V|LPHN2_ENST00000370727.1_Missense_Mutation_p.L1350V|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.L1322V|LPHN2_ENST00000370723.1_Missense_Mutation_p.L1380V|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.L1350V|LPHN2_ENST00000370730.1_Missense_Mutation_p.L1335V|LPHN2_ENST00000394879.1_Missense_Mutation_p.L1380V|LPHN2_ENST00000370717.2_Missense_Mutation_p.L1393V			O95490	LPHN2_HUMAN	latrophilin 2	1378					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.L1393V(1)|p.L1322V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATGCCCAATCTTAGAGACTC	0.507																																						uc001dit.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(3964-3966)CTT>GTT		latrophilin 2 precursor							88.0	86.0	87.0					1																	82456581		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456581C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4132C>G	1.37:g.82456581C>G	ENSP00000359763:p.Leu1378Val					LPHN2_uc001dis.2_Missense_Mutation_p.L302V|LPHN2_uc001diu.2_Missense_Mutation_p.L1322V|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.L949V	p.L1322V	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	21	4145	+			1378			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3964C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.52|16.52|16.52	3.145126|3.145126|3.145126	0.57044|0.57044|0.57044	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	.|D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.88586|.	.|-1.96;-1.97;-2.4;-2.35;-1.89;-1.82;-2.29;-2.29;-1.89;-1.82;-2.35;-2.4|.	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.71609|0.71609|0.71609	0.3360|0.3360|0.3360	M|M|M	0.74881|0.74881|0.74881	2.28|2.28|2.28	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;0.997|.	.|D;D|.	.|0.91635|.	.|0.999;0.987|.	T|T|T	0.71397|0.71397|0.71397	-0.4605|-0.4605|-0.4605	5|10|5	.|0.62326|.	.|D|.	.|0.03|.	.|.|.	18.8839|18.8839|18.8839	0.92367|0.92367|0.92367	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|1322;302|.	.|O95490-2;B3KVU1|.	.|.;.|.	M|V|C	1269|1303;1378;1335;1350;1393;1380;1322;1322;1393;1380;1350;1335|389	.|ENSP00000359756:L1303V;ENSP00000359763:L1378V;ENSP00000359765:L1335V;ENSP00000359762:L1350V;ENSP00000359760:L1393V;ENSP00000359758:L1380V;ENSP00000353006:L1322V;ENSP00000322270:L1322V;ENSP00000359752:L1393V;ENSP00000378344:L1380V;ENSP00000271029:L1350V;ENSP00000337306:L1335V|.	.|ENSP00000271029:L1350V|.	I|L|S	+|+|+	3|1|2	3|0|0	LPHN2|LPHN2|LPHN2	82229169|82229169|82229169	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.256000|0.256000|0.256000	0.24389|0.24389|0.24389	0.986000|0.986000|0.986000	0.74619|0.74619|0.74619	5.513000|5.513000|5.513000	0.67037|0.67037|0.67037	2.467000|2.467000|2.467000	0.83353|0.83353|0.83353	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	ATC|CTT|TCT		0.507	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		3	88	0	0	0	0.004672	0	3	88		
CLCA1	1179	broad.mit.edu	37	1	86954697	86954697	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:86954697C>T	ENST00000234701.3	+	9	1552	c.1201C>T	c.(1201-1203)Cca>Tca	p.P401S	CLCA1_ENST00000394711.1_Missense_Mutation_p.P401S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	401	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.P401S(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GAAGAAATATCCAACTGATGG	0.433																																						uc001dlt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1201-1203)CCA>TCA		chloride channel accessory 1 precursor							127.0	116.0	120.0					1																	86954697		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86954697C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1201C>T	1.37:g.86954697C>T	ENSP00000234701:p.Pro401Ser					CLCA1_uc001dls.1_Missense_Mutation_p.P340S	p.P401S	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	8	1330	+		Lung NSC(277;0.239)	401			VWFA.		B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.1201C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.450662	0.00175	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.13307	2.6;2.6	5.7	-0.12	0.13539	von Willebrand factor, type A (3);	0.712151	0.13674	N	0.370663	T	0.01454	0.0047	L	0.28608	0.87	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.14578	0.01;0.011	T	0.45818	-0.9235	10	0.02654	T	1	-1.0463	0.5598	0.00677	0.2192:0.312:0.2063:0.2625	.	401;164	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	S	401;401;114	ENSP00000234701:P401S;ENSP00000378200:P401S	ENSP00000234701:P401S	P	+	1	0	CLCA1	86727285	0.000000	0.05858	0.107000	0.21349	0.052000	0.14988	-1.270000	0.02831	0.058000	0.16222	-0.253000	0.11424	CCA		0.433	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1		NM_001285		43	50	0	0	0	0.011902	0	43	50		
CLCA1	1179	broad.mit.edu	37	1	86961284	86961284	+	Missense_Mutation	SNP	G	G	A	rs376517239		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:86961284G>A	ENST00000234701.3	+	13	2390	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	CLCA1_ENST00000394711.1_Missense_Mutation_p.G680E			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	680					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.G680E(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCTCTGGGAGGAGTTAACGCA	0.463																																						uc001dlt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2038-2040)GGA>GAA		chloride channel accessory 1 precursor							98.0	95.0	96.0					1																	86961284		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86961284G>A		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.2039G>A	1.37:g.86961284G>A	ENSP00000234701:p.Gly680Glu						p.G680E	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	12	2168	+		Lung NSC(277;0.239)	680					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.2039G>A	CCDS709.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502789	0.44558	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.02812	4.15;4.15	5.69	5.69	0.88448	.	0.198796	0.44688	D	0.000431	T	0.04318	0.0119	M	0.72118	2.19	0.35890	D	0.829583	D	0.64830	0.994	D	0.65140	0.932	T	0.41016	-0.9532	10	0.07990	T	0.79	-20.8824	9.1187	0.36773	0.1558:0.0:0.8442:0.0	.	680	A8K7I4	CLCA1_HUMAN	E	680	ENSP00000234701:G680E;ENSP00000378200:G680E	ENSP00000234701:G680E	G	+	2	0	CLCA1	86733872	0.991000	0.36638	0.978000	0.43139	0.557000	0.35523	2.376000	0.44292	2.840000	0.97914	0.655000	0.94253	GGA		0.463	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1		NM_001285		9	74	0	0	0	0.008291	0	9	74		
BRDT	676	broad.mit.edu	37	1	92446495	92446495	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:92446495G>A	ENST00000362005.3	+	11	1928	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	BRDT_ENST00000399546.2_Missense_Mutation_p.E504K|BRDT_ENST00000370389.2_Missense_Mutation_p.E431K|BRDT_ENST00000394530.3_Missense_Mutation_p.E458K|BRDT_ENST00000402388.1_Missense_Mutation_p.E504K	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	504	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.E504K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATCTGAAGATGAAGATAATGC	0.333																																						uc001dok.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	stomach(2)|ovary(1)|lung(1)	4						c.(1510-1512)GAA>AAA		testis-specific bromodomain protein							73.0	73.0	73.0					1																	92446495		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446495G>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1510G>A	1.37:g.92446495G>A	ENSP00000354568:p.Glu504Lys					BRDT_uc001dol.3_Missense_Mutation_p.E504K|BRDT_uc010osz.1_Missense_Mutation_p.E508K|BRDT_uc009wdf.2_Missense_Mutation_p.E431K|BRDT_uc010ota.1_Missense_Mutation_p.E458K|BRDT_uc010otb.1_Missense_Mutation_p.E458K|BRDT_uc001dom.3_Missense_Mutation_p.E504K	p.E504K	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	1859	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	504					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1510G>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072828	0.76415	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.86	4.95	0.65309	.	0.097549	0.45126	D	0.000386	T	0.39886	0.1095	M	0.89287	3.02	0.48087	D	0.999589	B;B;P;D	0.65815	0.125;0.125;0.777;0.995	B;B;B;D	0.79108	0.041;0.041;0.282;0.992	T	0.53380	-0.8447	10	0.87932	D	0	-21.8885	15.2633	0.73640	0.0675:0.0:0.9325:0.0	.	458;458;508;504	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	K	504;431;504;458;504	ENSP00000354568:E504K;ENSP00000359416:E431K;ENSP00000387822:E504K;ENSP00000378038:E458K;ENSP00000384051:E504K	ENSP00000354568:E504K	E	+	1	0	BRDT	92219083	1.000000	0.71417	0.995000	0.50966	0.656000	0.38851	6.295000	0.72744	1.477000	0.48234	0.585000	0.79938	GAA		0.333	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189		9	82	0	0	0	0.006214	0	9	82		
VANGL1	81839	broad.mit.edu	37	1	116206759	116206759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:116206759G>C	ENST00000355485.2	+	4	953	c.682G>C	c.(682-684)Gat>Cat	p.D228H	VANGL1_ENST00000369510.4_Missense_Mutation_p.D226H|VANGL1_ENST00000310260.3_Missense_Mutation_p.D228H|VANGL1_ENST00000369509.1_Missense_Mutation_p.D228H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	228					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)		p.D228H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCCCTTGTGGATGCCCTCCT	0.557																																						uc001efv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(682-684)GAT>CAT		vang-like 1							140.0	137.0	138.0					1																	116206759		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206759G>C	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.682G>C	1.37:g.116206759G>C	ENSP00000347672:p.Asp228His					VANGL1_uc009wgy.1_Missense_Mutation_p.D226H|VANGL1_uc001efw.1_Missense_Mutation_p.D228H	p.D228H	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	953	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	228			Helical; Name=4; (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.682G>C	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159407	0.78226	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94481	0.7693	10	0.87932	D	0	-1.5441	20.2921	0.98543	0.0:0.0:1.0:0.0	.	226;228	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	H	228;226;228;228	ENSP00000347672:D228H;ENSP00000358523:D226H;ENSP00000310800:D228H;ENSP00000358522:D228H	ENSP00000310800:D228H	D	+	1	0	VANGL1	116008282	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	9.476000	0.97823	2.879000	0.98667	0.650000	0.86243	GAT		0.557	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1				18	67	0	0	0	0.010504	0	18	67		
MTMR11	10903	broad.mit.edu	37	1	149905798	149905798	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:149905798C>G	ENST00000439741.2	-	8	971	c.721G>C	c.(721-723)Gac>Cac	p.D241H	MTMR11_ENST00000406732.3_Missense_Mutation_p.D213H|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.D169H|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	241	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.D241H(1)|p.D169H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCTCACTGTCCAGAATTCGG	0.493																																						uc001etl.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(721-723)GAC>CAC		myotubularin related protein 11 isoform a							157.0	142.0	147.0					1																	149905798		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149905798C>G	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.721G>C	1.37:g.149905798C>G	ENSP00000391668:p.Asp241His					MTMR11_uc001etm.1_Missense_Mutation_p.D169H|MTMR11_uc010pbm.1_Missense_Mutation_p.D213H|MTMR11_uc010pbn.1_Missense_Mutation_p.D83H	p.D241H	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		8	972	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		241			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.721G>C	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114558	0.77210	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.95307	-3.67;-3.02;-3.67	5.29	5.29	0.74685	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.109084	0.64402	D	0.000013	D	0.94798	0.8320	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.998;1.0	D	0.95526	0.8599	10	0.87932	D	0	.	16.4725	0.84115	0.0:1.0:0.0:0.0	.	83;213;169;241	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	H	169;241;213;83	ENSP00000358136:D169H;ENSP00000391668:D241H;ENSP00000383948:D213H	ENSP00000358136:D169H	D	-	1	0	MTMR11	148172422	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.419000	0.66435	2.761000	0.94854	0.655000	0.94253	GAC		0.493	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_181873		55	194	0	0	0	0.00361	0	55	194		
OTUD7B	56957	broad.mit.edu	37	1	149916075	149916075	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:149916075C>T	ENST00000369135.4	-	12	2507	c.2213G>A	c.(2212-2214)cGa>cAa	p.R738Q		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	738					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R738Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGGGTAGGGTCGCCCAGGAGG	0.642																																						uc001etn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|skin(1)	3						c.(2212-2214)CGA>CAA		zinc finger protein Cezanne							29.0	31.0	30.0					1																	149916075		1978	4140	6118	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916075C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2213G>A	1.37:g.149916075C>T	ENSP00000358131:p.Arg738Gln						p.R738Q	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2569	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		738					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.2213G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706121	0.30232	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.30182	1.54	4.56	4.56	0.56223	.	0.295511	0.33496	N	0.004856	T	0.14485	0.0350	L	0.40543	1.245	0.41798	D	0.9899	D	0.60575	0.988	B	0.41440	0.357	T	0.02098	-1.1214	9	.	.	.	-2.4752	12.6888	0.56962	0.0:1.0:0.0:0.0	.	738	Q6GQQ9	OTU7B_HUMAN	Q	738	ENSP00000358131:R738Q	.	R	-	2	0	OTUD7B	148182699	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.341000	0.43983	2.376000	0.81061	0.455000	0.32223	CGA		0.642	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3		NM_020205		22	58	0	0	0	0.00278	0	22	58		
ANP32E	81611	broad.mit.edu	37	1	150193030	150193030	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:150193030C>T	ENST00000314136.8	-	7	1139	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	ANP32E_ENST00000369116.4_Missense_Mutation_p.R125Q|ANP32E_ENST00000369119.3_Missense_Mutation_p.R209Q|ANP32E_ENST00000533654.1_3'UTR|ANP32E_ENST00000436748.2_Missense_Mutation_p.R216Q|ANP32E_ENST00000369114.5_Missense_Mutation_p.R138Q|ANP32E_ENST00000369115.2_Missense_Mutation_p.R125Q	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	257	Asp/Glu-rich (highly acidic).|ZID domain.				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)	p.R257Q(1)		breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			TTCAGCATCTCGTTTCCTCTT	0.383																																						uc001etw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(769-771)CGA>CAA		acidic (leucine-rich) nuclear phosphoprotein 32							346.0	327.0	333.0					1																	150193030		2203	4300	6503	SO:0001583	missense	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150193030C>T	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.770G>A	1.37:g.150193030C>T	ENSP00000324074:p.Arg257Gln					ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.R209Q|ANP32E_uc010pbv.1_Missense_Mutation_p.R216Q|ANP32E_uc001etv.3_Missense_Mutation_p.R256Q	p.R257Q	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1140	-	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)		257			Asp/Glu-rich (highly acidic).		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	c.770G>A	CCDS946.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851906	0.71719	.	.	ENSG00000143401	ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369114;ENST00000369115	T;T;T;T	0.41065	1.01;1.34;2.05;8.1	5.87	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	N	0.19112	0.55	0.54753	D	0.999986	P;B	0.36249	0.545;0.123	B;B	0.22386	0.039;0.005	T	0.08493	-1.0719	10	0.72032	D	0.01	.	14.6287	0.68640	0.0:0.9302:0.0:0.0698	.	216;257	E9PEA6;Q9BTT0	.;AN32E_HUMAN	Q	257;209;125;216;89;138;125	ENSP00000324074:R257Q;ENSP00000358115:R209Q;ENSP00000393718:R216Q;ENSP00000358110:R138Q	ENSP00000324074:R257Q	R	-	2	0	ANP32E	148459654	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.369000	0.73109	1.626000	0.50381	0.655000	0.94253	CGA		0.383	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1		NM_030920		38	317	0	0	0	0.00874	0	38	317		
CIART	148523	broad.mit.edu	37	1	150259343	150259343	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:150259343G>A	ENST00000290363.5	+	5	1584	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	C1orf51_ENST00000369094.1_Missense_Mutation_p.D291N|C1orf51_ENST00000369095.1_Missense_Mutation_p.D379N	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		379					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)	p.D379N(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	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)			AGTTGCTGCTGATGCTCATCT	0.458																																						uc001euh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1135-1137)GAT>AAT		hypothetical protein LOC148523							80.0	72.0	75.0					1																	150259343		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259343G>A																												ENST00000290363.5:c.1135G>A	1.37:g.150259343G>A	ENSP00000290363:p.Asp379Asn					C1orf51_uc001eui.2_Missense_Mutation_p.D291N|C1orf51_uc001euj.2_Missense_Mutation_p.D379N	p.D379N	NM_144697	NP_653298	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1271	+	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)		379					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.1135G>A	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	6.215	0.407741	0.11754	.	.	ENSG00000159208	ENST00000369095;ENST00000369094;ENST00000290363	.	.	.	5.27	2.34	0.29019	.	0.665350	0.13937	N	0.352491	T	0.12561	0.0305	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.27536	-1.0071	8	.	.	.	-5.9641	5.3121	0.15835	0.1801:0.1666:0.6533:0.0	.	379	Q8N365	CA051_HUMAN	N	379;291;379	.	.	D	+	1	0	C1orf51	148525967	0.001000	0.12720	0.000000	0.03702	0.054000	0.15201	0.928000	0.28831	0.355000	0.24131	-0.254000	0.11334	GAT		0.458	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1				20	74	0	0	0	0.002299	0	20	74		
THEM4	117145	broad.mit.edu	37	1	151861806	151861806	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:151861806G>A	ENST00000368814.3	-	3	679	c.330C>T	c.(328-330)ctC>ctT	p.L110L	THEM4_ENST00000477437.1_5'UTR	NM_053055.4	NP_444283.2	Q5T1C6	THEM4_HUMAN	thioesterase superfamily member 4	110					epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein kinase B signaling (GO:0043491)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	cell projection (GO:0042995)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.L110L(1)		endometrium(1)|large_intestine(4)|lung(3)|urinary_tract(1)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTGGTGAAGAGCTGGGCCT	0.438																																						uc001ezj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(328-330)CTC>CTT		thioesterase superfamily member 4							89.0	87.0	88.0					1																	151861806		2203	4300	6503	SO:0001819	synonymous_variant	117145				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|ruffle membrane		g.chr1:151861806G>A	AJ313515	CCDS1006.1	1q21.3	2008-02-05			ENSG00000159445	ENSG00000159445			17947	protein-coding gene	gene with protein product	"""C-terminal modulator protein"""	606388				11598301	Standard	NM_053055		Approved	CTMP	uc001ezj.2	Q5T1C6	OTTHUMG00000013049	ENST00000368814.3:c.330C>T	1.37:g.151861806G>A						THEM4_uc001ezk.1_RNA	p.L110L	NM_053055	NP_444283	Q5T1C6	THEM4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	509	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		110					B2RBX2|Q96KR2	Silent	SNP	ENST00000368814.3	37	c.330C>T	CCDS1006.1																																																																																				0.438	THEM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036615.1		NM_053055		10	116	0	0	0	0.006214	0	10	116		
HRNR	388697	broad.mit.edu	37	1	152192570	152192570	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:152192570C>T	ENST00000368801.2	-	3	1610	c.1535G>A	c.(1534-1536)gGt>gAt	p.G512D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	512					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G512D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGATGAACCTGCACTAGA	0.572																																						uc001ezt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(1534-1536)GGT>GAT		hornerin							287.0	272.0	277.0					1																	152192570		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192570C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1535G>A	1.37:g.152192570C>T	ENSP00000357791:p.Gly512Asp						p.G512D	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1611	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		512			5.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1535G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	3.681	-0.065498	0.07273	.	.	ENSG00000197915	ENST00000368801	T	0.01613	4.73	2.11	0.0255	0.14146	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.20459	0.045	B	0.10450	0.005	T	0.38714	-0.9648	9	0.11794	T	0.64	.	5.9288	0.19128	0.0:0.6681:0.0:0.3319	.	512	Q86YZ3	HORN_HUMAN	D	512	ENSP00000357791:G512D	ENSP00000357791:G512D	G	-	2	0	HRNR	150459194	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.398000	0.20899	0.209000	0.20645	-0.374000	0.07098	GGT		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868		120	236	0	0	0	0.00361	0	120	236		
DENND4B	9909	broad.mit.edu	37	1	153906268	153906268	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:153906268C>G	ENST00000361217.4	-	20	3439	c.3021G>C	c.(3019-3021)ctG>ctC	p.L1007L	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1007					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L895L(1)|p.L1007L(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTCCCCTGTCAGGCTCAGGT	0.647																																						uc001fdd.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(3019-3021)CTG>CTC		DENN/MADD domain containing 4B							12.0	14.0	13.0					1																	153906268		1872	4060	5932	SO:0001819	synonymous_variant	9909							g.chr1:153906268C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3021G>C	1.37:g.153906268C>G						uc001fdc.1_Intron	p.L1007L	NM_014856	NP_055671	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		20	3422	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1007					Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.3021G>C	CCDS44228.1																																																																																				0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806		8	13	0	0	0	0.00308	0	8	13		
UBAP2L	9898	broad.mit.edu	37	1	154223614	154223614	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:154223614G>C	ENST00000361546.2	+	12	1353	c.1311G>C	c.(1309-1311)gaG>gaC	p.E437D	UBAP2L_ENST00000271877.7_Missense_Mutation_p.E448D|UBAP2L_ENST00000343815.6_Missense_Mutation_p.E437D|UBAP2L_ENST00000428931.1_Missense_Mutation_p.E437D			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	437					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.E437D(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTTCAGGAGAAGTCACCTG	0.532																																						uc001fep.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)	2						c.(1309-1311)GAG>GAC		ubiquitin associated protein 2-like isoform a							109.0	109.0	109.0					1																	154223614		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154223614G>C	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1311G>C	1.37:g.154223614G>C	ENSP00000355343:p.Glu437Asp					UBAP2L_uc009wot.2_Missense_Mutation_p.E437D|UBAP2L_uc010pek.1_Missense_Mutation_p.E429D|UBAP2L_uc010pel.1_Missense_Mutation_p.E447D|UBAP2L_uc010pen.1_Missense_Mutation_p.E351D	p.E437D	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		13	1478	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		437					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.1311G>C	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651914	0.67472	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.65	3.63	0.41609	.	0.162865	0.52532	D	0.000067	T	0.03477	0.0100	N	0.14661	0.345	0.36491	D	0.868423	B;B;B;B;B	0.10296	0.002;0.003;0.003;0.003;0.002	B;B;B;B;B	0.12156	0.003;0.007;0.007;0.007;0.003	T	0.22730	-1.0208	10	0.44086	T	0.13	-8.4433	12.2864	0.54795	0.1575:0.0:0.8425:0.0	.	351;448;430;437;437	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	D	437;437;448;437	ENSP00000345308:E437D;ENSP00000389445:E437D;ENSP00000271877:E448D;ENSP00000355343:E437D	ENSP00000271877:E448D	E	+	3	2	UBAP2L	152490238	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.634000	0.37123	1.602000	0.50124	0.655000	0.94253	GAG		0.532	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1		NM_014847		15	128	0	0	0	0.004007	0	15	128		
ASH1L	55870	broad.mit.edu	37	1	155319163	155319163	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:155319163C>T	ENST00000368346.3	-	19	8163	c.7524G>A	c.(7522-7524)gtG>gtA	p.V2508V	MIR555_ENST00000384987.1_RNA|ASH1L_ENST00000392403.3_Silent_p.V2503V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2508	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.V2503V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAAAAGCTTCCACTGTCTTAT	0.383																																						uc009wqq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(7522-7524)GTG>GTA		absent, small, or homeotic 1-like							95.0	94.0	94.0					1																	155319163		2203	4300	6503	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155319163C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7524G>A	1.37:g.155319163C>T						RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.V2503V|MIR555_hsa-mir-555|MI0003561_5'Flank	p.V2508V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		19	8004	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2508			Bromo.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.7524G>A																																																																																					0.383	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		24	58	0	0	0	0.002299	0	24	58		
KIAA0907	22889	broad.mit.edu	37	1	155896471	155896471	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:155896471G>A	ENST00000368321.3	-	6	700	c.677C>T	c.(676-678)tCa>tTa	p.S226L	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Missense_Mutation_p.S226L|SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S226L	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	226							RNA binding (GO:0003723)	p.S226L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACATACCCCTGACTGGAAGGG	0.473																																						uc001fmi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(676-678)TCA>TTA		hypothetical protein LOC22889							119.0	108.0	112.0					1																	155896471		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155896471G>A	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.677C>T	1.37:g.155896471G>A	ENSP00000357304:p.Ser226Leu					KIAA0907_uc001fmj.1_Missense_Mutation_p.S226L|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.S226L|KIAA0907_uc001fmm.2_Intron|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.S226L	p.S226L	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		6	701	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		226					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.677C>T	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289054	0.80914	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.4	5.4	0.78164	.	0.148567	0.47455	D	0.000231	T	0.70037	0.3178	M	0.64404	1.975	0.58432	D	0.999999	D;P;P;P	0.67145	0.996;0.73;0.571;0.892	D;B;B;B	0.62955	0.909;0.28;0.301;0.443	T	0.64997	-0.6275	9	0.33940	T	0.23	-15.2386	18.9618	0.92680	0.0:0.0:1.0:0.0	.	226;226;226;226	Q7Z7F0-4;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;K0907_HUMAN	L	226	.	ENSP00000357302:S226L	S	-	2	0	KIAA0907	154163095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.870000	0.87175	2.822000	0.97130	0.650000	0.86243	TCA		0.473	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1		NM_014949		23	59	0	0	0	0.008361	0	23	59		
MEF2D	4209	broad.mit.edu	37	1	156446809	156446809	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:156446809G>A	ENST00000348159.4	-	7	1330	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	MEF2D_ENST00000464356.2_Missense_Mutation_p.H283Y|MEF2D_ENST00000368240.2_Missense_Mutation_p.H284Y|MEF2D_ENST00000353795.3_Missense_Mutation_p.H238Y|MEF2D_ENST00000340875.5_Missense_Mutation_p.H283Y|MEF2D_ENST00000360595.3_Missense_Mutation_p.H284Y	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	284					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H284Y(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTACCAAGTGATGCATTAAC	0.607																																						uc001fpc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(850-852)CAC>TAC		myocyte enhancer factor 2D							80.0	75.0	77.0					1																	156446809		2203	4300	6503	SO:0001583	missense	4209				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr1:156446809G>A	BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.850C>T	1.37:g.156446809G>A	ENSP00000271555:p.His284Tyr					MEF2D_uc001fpb.2_Missense_Mutation_p.H284Y|MEF2D_uc001fpd.2_Missense_Mutation_p.H284Y|MEF2D_uc001fpe.1_Missense_Mutation_p.H284Y|MEF2D_uc009wsa.2_RNA	p.H284Y	NM_005920	NP_005911	Q14814	MEF2D_HUMAN			7	1240	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		284					D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	c.850C>T	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125189	0.37533	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.4	5.4	0.78164	.	0.064498	0.64402	D	0.000007	T	0.37892	0.1020	L	0.36672	1.1	0.42689	D	0.993574	D;D;D	0.63880	0.993;0.965;0.988	D;P;P	0.70227	0.968;0.579;0.836	T	0.15578	-1.0432	10	0.54805	T	0.06	-22.3115	17.7508	0.88432	0.0:0.0:1.0:0.0	.	289;284;284	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	Y	284;283;284;238;284;283	ENSP00000271555:H284Y;ENSP00000343159:H283Y;ENSP00000357223:H284Y;ENSP00000344705:H238Y;ENSP00000353803:H284Y;ENSP00000388505:H283Y	ENSP00000343159:H283Y	H	-	1	0	MEF2D	154713433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.537000	0.73847	2.524000	0.85096	0.655000	0.94253	CAC		0.607	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2		NM_005920		7	61	0	0	0	0.001984	0	7	61		
CD1A	909	broad.mit.edu	37	1	158226807	158226807	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:158226807G>A	ENST00000289429.5	+	4	1369	c.836G>A	c.(835-837)cGg>cAg	p.R279Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	279	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.R279Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CTGTCCTGTCGGGTGAAGCAC	0.612																																						uc001frt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|skin(1)	3						c.(835-837)CGG>CAG		CD1A antigen precursor	Antithymocyte globulin(DB00098)						83.0	77.0	79.0					1																	158226807		2203	4300	6503	SO:0001583	missense	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158226807G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.836G>A	1.37:g.158226807G>A	ENSP00000289429:p.Arg279Gln						p.R279Q	NM_001763	NP_001754	P06126	CD1A_HUMAN			4	1369	+	all_hematologic(112;0.0378)		279			Extracellular (Potential).|Ig-like.		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	c.836G>A	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320750	0.41096	.	.	ENSG00000158477	ENST00000289429	T	0.02812	4.15	3.84	1.94	0.25998	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.221369	0.23003	N	0.053047	T	0.02304	0.0071	L	0.45137	1.4	0.09310	N	1	D	0.76494	0.999	P	0.59221	0.854	T	0.44065	-0.9352	10	0.54805	T	0.06	-15.6093	6.0141	0.19592	0.2415:0.0:0.7585:0.0	.	279	P06126	CD1A_HUMAN	Q	279	ENSP00000289429:R279Q	ENSP00000289429:R279Q	R	+	2	0	CD1A	156493431	0.000000	0.05858	0.008000	0.14137	0.385000	0.30292	-0.203000	0.09438	0.406000	0.25560	0.491000	0.48974	CGG		0.612	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2		NM_001763		13	50	0	0	0	0.001368	0	13	50		
COPA	1314	broad.mit.edu	37	1	160282929	160282929	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:160282929G>T	ENST00000241704.7	-	10	1100	c.871C>A	c.(871-873)Cat>Aat	p.H291N	COPA_ENST00000368069.3_Missense_Mutation_p.H291N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	291					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.H291N(2)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACGATCATGGTCTCTGCGG	0.403																																						uc009wti.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(871-873)CAT>AAT		coatomer protein complex, subunit alpha isoform							106.0	96.0	99.0					1																	160282929		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160282929G>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.871C>A	1.37:g.160282929G>T	ENSP00000241704:p.His291Asn					COPA_uc001fvv.3_Missense_Mutation_p.H291N|COPA_uc009wtj.1_Missense_Mutation_p.H237N	p.H291N	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		10	1265	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		291					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.871C>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752976	0.31046	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.80653	2.66;-1.4	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047969	0.85682	D	0.000000	T	0.51618	0.1685	N	0.11927	0.2	0.80722	D	1	B;B	0.13145	0.004;0.007	B;B	0.17979	0.005;0.02	T	0.52881	-0.8516	10	0.12766	T	0.61	-15.4035	17.5449	0.87858	0.0:0.0:1.0:0.0	.	291;291	P53621;P53621-2	COPA_HUMAN;.	N	291	ENSP00000357048:H291N;ENSP00000241704:H291N	ENSP00000241704:H291N	H	-	1	0	COPA	158549553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.282000	0.95840	2.541000	0.85698	0.650000	0.86243	CAT		0.403	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1		NM_004371		11	53	1	0	6.40141e-05	0.010729	6.5925e-05	11	53		
FCGR3A	2214	broad.mit.edu	37	1	161600882	161600882	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:161600882C>T	ENST00000540048.1	-	1	35	c.3G>A	c.(1-3)atG>atA	p.M1I	FCGR3B_ENST00000367964.2_Start_Codon_SNP_p.M1I|FCGR3B_ENST00000531221.1_Missense_Mutation_p.M37I|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000294800.3_Start_Codon_SNP_p.M1I			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	1					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M1I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAGCTGCCACATGATGCCAC	0.542																																						uc009wul.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1-3)ATG>ATA		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						71.0	69.0	70.0					1																	161600882		2191	4295	6486	SO:0001582	initiator_codon_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161600882C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.3G>A	1.37:g.161600882C>T	ENSP00000444971:p.Met1Ile						p.M1I	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	277	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		1					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.3G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.394164|3.394164	0.62066|0.62066	.|.	.|.	ENSG00000203747;ENSG00000162747;ENSG00000162747;ENSG00000162747|ENSG00000162747	ENST00000540048;ENST00000367964;ENST00000294800;ENST00000531221|ENST00000421702	T;T;T;T|.	0.01430|.	4.9;4.91;4.91;5.03|.	2.66|2.66	2.66|2.66	0.31614|0.31614	.|.	1.777940|.	0.02842|.	N|.	0.128075|.	T|T	0.44912|0.44912	0.1316|0.1316	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.70227|.	0.968|.	T|T	0.40701|0.40701	-0.9549|-0.9549	9|4	0.66056|.	D|.	0.02|.	.|.	8.8994|8.8994	0.35485|0.35485	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1|.	O75015|.	FCG3B_HUMAN|.	I|M	1;1;1;37|23	ENSP00000444971:M1I;ENSP00000356941:M1I;ENSP00000294800:M1I;ENSP00000433642:M37I|.	ENSP00000444971:M1I|.	M|V	-|-	3|1	0|0	FCGR3A;FCGR3B|FCGR3B	159867506|159867506	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.313000|0.313000	0.28021|0.28021	2.953000|2.953000	0.49105|0.49105	1.493000|1.493000	0.48517|0.48517	0.393000|0.393000	0.25936|0.25936	ATG|GTG		0.542	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_000569	Missense_Mutation	7	27	0	0	0	0.004482	0	7	27		
ZBTB37	84614	broad.mit.edu	37	1	173839952	173839952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:173839952C>T	ENST00000367701.5	+	2	780	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	ZBTB37_ENST00000367704.1_Nonsense_Mutation_p.Q197*|ZBTB37_ENST00000427304.1_Nonsense_Mutation_p.Q197*|ZBTB37_ENST00000432989.1_Nonsense_Mutation_p.Q197*|ZBTB37_ENST00000367702.1_Nonsense_Mutation_p.Q197*			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q197*(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CACCAGCCCTCAGATCATTGA	0.552																																						uc009wwp.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(589-591)CAG>TAG		zinc finger and BTB domain containing 37 isoform							53.0	53.0	53.0					1																	173839952		2203	4300	6503	SO:0001587	stop_gained	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839952C>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.589C>T	1.37:g.173839952C>T	ENSP00000356674:p.Gln197*					GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Nonsense_Mutation_p.Q197*|ZBTB37_uc001gjq.3_Nonsense_Mutation_p.Q197*|ZBTB37_uc001gjr.2_Nonsense_Mutation_p.Q197*	p.Q197*	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			3	865	+			197					Q5TC80|Q96M87|Q9BQ88	Nonsense_Mutation	SNP	ENST00000367701.5	37	c.589C>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	36	5.884065	0.97062	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	.	.	.	5.9	5.9	0.94986	.	0.279924	0.41396	D	0.000897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	20.2723	0.98479	0.0:1.0:0.0:0.0	.	.	.	.	X	197;197;197;197;105;197	.	ENSP00000356674:Q197X	Q	+	1	0	ZBTB37	172106575	1.000000	0.71417	0.967000	0.41034	0.850000	0.48378	4.830000	0.62745	2.793000	0.96121	0.563000	0.77884	CAG		0.552	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2		NM_032522		12	43	0	0	0	0.00245	0	12	43		
ZBTB37	84614	broad.mit.edu	37	1	173839957	173839957	+	Silent	SNP	C	C	T	rs376032662		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:173839957C>T	ENST00000367701.5	+	2	785	c.594C>T	c.(592-594)atC>atT	p.I198I	ZBTB37_ENST00000367704.1_Silent_p.I198I|ZBTB37_ENST00000427304.1_Silent_p.I198I|ZBTB37_ENST00000432989.1_Silent_p.I198I|ZBTB37_ENST00000367702.1_Silent_p.I198I			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I198I(2)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GCCCTCAGATCATTGAACCAA	0.557																																						uc009wwp.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(592-594)ATC>ATT		zinc finger and BTB domain containing 37 isoform		C	,	1,4405	2.1+/-5.4	0,1,2202	54.0	54.0	54.0		594,594	-6.6	0.9	1		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZBTB37	NM_001122770.1,NM_032522.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	198/504,198/362	173839957	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839957C>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.594C>T	1.37:g.173839957C>T						GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Silent_p.I198I|ZBTB37_uc001gjq.3_Silent_p.I198I|ZBTB37_uc001gjr.2_Silent_p.I198I	p.I198I	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			3	870	+			198					Q5TC80|Q96M87|Q9BQ88	Silent	SNP	ENST00000367701.5	37	c.594C>T	CCDS44278.1																																																																																				0.557	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2		NM_032522		11	40	0	0	0	0.001855	0	11	40		
XPR1	9213	broad.mit.edu	37	1	180775291	180775291	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:180775291G>C	ENST00000367590.4	+	5	739	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	XPR1_ENST00000367589.3_Missense_Mutation_p.E181Q	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	181					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.E181Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGCTCACGTAGAGGTGGCCCC	0.398																																						uc001goi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(541-543)GAG>CAG		xenotropic and polytropic retrovirus receptor							88.0	88.0	88.0					1																	180775291		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180775291G>C	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.541G>C	1.37:g.180775291G>C	ENSP00000356562:p.Glu181Gln					XPR1_uc009wxm.2_Missense_Mutation_p.E181Q|XPR1_uc009wxn.2_Missense_Mutation_p.E181Q	p.E181Q	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			5	733	+			181			Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.541G>C	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646272	0.87958	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T	0.48201	0.82	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.70552	0.3237	M	0.83312	2.635	0.80722	D	1	D;P	0.60575	0.988;0.781	D;B	0.63793	0.918;0.41	T	0.73924	-0.3829	10	0.52906	T	0.07	-12.8591	18.5413	0.91029	0.0:0.0:1.0:0.0	.	181;181	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	Q	181	ENSP00000356562:E181Q	ENSP00000356561:E181Q	E	+	1	0	XPR1	179041914	1.000000	0.71417	0.995000	0.50966	0.833000	0.47200	9.731000	0.98807	2.487000	0.83934	0.484000	0.47621	GAG		0.398	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736		9	71	0	0	0	0.004482	0	9	71		
ASPM	259266	broad.mit.edu	37	1	197112229	197112229	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:197112229C>G	ENST00000367409.4	-	3	1409	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E385Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	385					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.E385Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTAACTGACTCTGATTCTAGA	0.289																																						uc001gtu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(2)	6						c.(1153-1155)GAG>CAG		asp (abnormal spindle)-like, microcephaly							55.0	60.0	58.0					1																	197112229		2183	4276	6459	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112229C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.1153G>C	1.37:g.197112229C>G	ENSP00000356379:p.Glu385Gln					ASPM_uc001gtv.2_Missense_Mutation_p.E385Q|ASPM_uc001gtw.3_Intron	p.E385Q	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			3	1410	-			385					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.1153G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353233	0.24512	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58060	0.36;1.64	5.45	3.52	0.40303	.	0.814404	0.11200	N	0.588950	T	0.50086	0.1595	M	0.64404	1.975	0.09310	N	1	B;B	0.18013	0.012;0.025	B;B	0.10450	0.004;0.005	T	0.41395	-0.9511	10	0.39692	T	0.17	.	10.9618	0.47389	0.0:0.7986:0.1299:0.0715	.	385;385	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	Q	385	ENSP00000356379:E385Q;ENSP00000294732:E385Q	ENSP00000294732:E385Q	E	-	1	0	ASPM	195378852	0.235000	0.23794	0.224000	0.23877	0.657000	0.38888	1.514000	0.35834	0.742000	0.32697	-0.293000	0.09583	GAG		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136		11	58	0	0	0	0.001855	0	11	58		
RAB29	8934	broad.mit.edu	37	1	205741642	205741642	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:205741642G>C	ENST00000367139.3	-	3	481	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	RAB7L1_ENST00000414729.1_Missense_Mutation_p.Q60E|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000235932.4_Missense_Mutation_p.Q60E|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000437324.2_5'UTR	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN		60					cell differentiation (GO:0030154)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|positive regulation of intracellular protein transport (GO:0090316)|protein transport (GO:0015031)|retrograde transport, plasma membrane to Golgi (GO:0035526)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q60E(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCCACAGCTGAAGCCGCACT	0.383																																					Pancreas(25;658 872 27763 34889 38531)	uc001hdf.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(178-180)CAG>GAG		RAB7, member RAS oncogene family-like 1 isoform							156.0	169.0	164.0					1																	205741642		2203	4300	6503	SO:0001583	missense	8934				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr1:205741642G>C																												ENST00000367139.3:c.178C>G	1.37:g.205741642G>C	ENSP00000356107:p.Gln60Glu					RAB7L1_uc009xbp.2_5'UTR|RAB7L1_uc001hde.3_Missense_Mutation_p.Q60E|RAB7L1_uc010prr.1_Intron|RAB7L1_uc009xbq.2_Intron	p.Q60E	NM_003929	NP_003920	O14966	RAB7L_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	518	-	Breast(84;0.0799)		60					B4E1K3|C9JE77	Missense_Mutation	SNP	ENST00000367139.3	37	c.178C>G	CCDS1459.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943878	0.73672	.	.	ENSG00000117280	ENST00000367139;ENST00000235932;ENST00000414729	T;T;T	0.76316	-1.01;-1.01;-1.01	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	M	0.75150	2.29	0.43032	D	0.994603	P	0.51147	0.942	D	0.66602	0.945	D	0.88894	0.3348	10	0.87932	D	0	-7.4105	16.6897	0.85318	0.0:0.0:1.0:0.0	.	60	O14966	RAB7L_HUMAN	E	60	ENSP00000356107:Q60E;ENSP00000235932:Q60E;ENSP00000402910:Q60E	ENSP00000235932:Q60E	Q	-	1	0	RAB7L1	204008265	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	8.686000	0.91250	2.479000	0.83701	0.561000	0.74099	CAG		0.383	RAB7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087732.1				92	102	0	0	0	0.00361	0	92	102		
USH2A	7399	broad.mit.edu	37	1	216243607	216243607	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:216243607C>T	ENST00000307340.3	-	30	6271	c.5885G>A	c.(5884-5886)aGa>aAa	p.R1962K	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.R1962K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1962	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R1962K(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTGCGGACTCTTGAGGGAGT	0.428										HNSCC(13;0.011)																												uc001hku.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5884-5886)AGA>AAA		usherin isoform B							100.0	90.0	93.0					1																	216243607		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243607C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5885G>A	1.37:g.216243607C>T	ENSP00000305941:p.Arg1962Lys	HNSCC(13;0.011)					p.R1962K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6272	-			1962			Extracellular (Potential).|Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5885G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765458	0.31228	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56103	0.48;0.48	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.138018	0.32753	N	0.005700	T	0.53899	0.1825	M	0.75447	2.3	0.32081	N	0.593106	B	0.16166	0.016	B	0.15052	0.012	T	0.58301	-0.7660	10	0.09084	T	0.74	.	19.9024	0.96993	0.0:1.0:0.0:0.0	.	1962	O75445	USH2A_HUMAN	K	1962	ENSP00000305941:R1962K;ENSP00000355910:R1962K	ENSP00000305941:R1962K	R	-	2	0	USH2A	214310230	1.000000	0.71417	0.615000	0.29064	0.993000	0.82548	3.077000	0.50089	2.775000	0.95449	0.650000	0.86243	AGA		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		6	44	0	0	0	0.001168	0	6	44		
TLR5	7100	broad.mit.edu	37	1	223286345	223286345	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:223286345C>T	ENST00000540964.1	-	4	490	c.29G>A	c.(28-30)gGa>gAa	p.G10E	TLR5_ENST00000342210.6_Missense_Mutation_p.G10E			O60602	TLR5_HUMAN	toll-like receptor 5	10					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.G10E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GAGCACCACTCCTAGGAGAAG	0.517																																						uc001hnv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(28-30)GGA>GAA		toll-like receptor 5 precursor							41.0	42.0	42.0					1																	223286345		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223286345C>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.29G>A	1.37:g.223286345C>T	ENSP00000440643:p.Gly10Glu					TLR5_uc001hnw.1_Missense_Mutation_p.G10E	p.G10E	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	475	-			10					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.29G>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	3.169	-0.170490	0.06461	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210;ENST00000407096	T;T;T	0.37235	1.21;1.21;1.21	5.05	3.13	0.36017	.	0.306838	0.30584	N	0.009310	T	0.42653	0.1212	M	0.80746	2.51	0.09310	N	1	P	0.46987	0.888	B	0.44085	0.44	T	0.40194	-0.9576	10	0.19147	T	0.46	.	13.9756	0.64271	0.0:0.7124:0.2876:0.0	.	10	O60602	TLR5_HUMAN	E	10	ENSP00000440643:G10E;ENSP00000355846:G10E;ENSP00000340089:G10E	ENSP00000340089:G10E	G	-	2	0	TLR5	221352968	0.106000	0.21978	0.008000	0.14137	0.216000	0.24613	3.840000	0.55843	0.500000	0.27991	-0.165000	0.13383	GGA		0.517	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_003268		4	29	0	0	0	0.009096	0	4	29		
ACTA1	58	broad.mit.edu	37	1	229568092	229568092	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:229568092C>T	ENST00000366684.3	-	4	643	c.541G>A	c.(541-543)Gac>Aac	p.D181N	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	181			D -> G (in NEM3). {ECO:0000269|PubMed:15236405}.|D -> H (in NEM3).|D -> N (in NEM3).		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.D181N(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CCCGCCAGGTCCAGGCGCATG	0.682																																						uc001htm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0	GRCh37	CD071294|CM034502|CM034503	ACTA1	D|M		c.(541-543)GAC>AAC		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						39.0	37.0	38.0					1																	229568092		2203	4298	6501	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568092C>T	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.541G>A	1.37:g.229568092C>T	ENSP00000355645:p.Asp181Asn						p.D181N	NM_001100	NP_001091	P68133	ACTS_HUMAN			4	646	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	181		D -> H (in NEM3).|D -> G (in NEM3).|D -> N (in NEM3).			P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.541G>A	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959263	0.53400	.	.	ENSG00000143632	ENST00000366684;ENST00000366682	D	0.95238	-3.65	4.58	4.58	0.56647	.	0.125660	0.50627	D	0.000117	D	0.96473	0.8849	L	0.58925	1.835	0.80722	D	1	D	0.59767	0.986	D	0.79784	0.993	D	0.97128	0.9816	10	0.87932	D	0	.	17.5619	0.87910	0.0:1.0:0.0:0.0	.	181	P68133	ACTS_HUMAN	N	181;146	ENSP00000355645:D181N	ENSP00000355643:D146N	D	-	1	0	ACTA1	227634715	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.545000	0.82128	2.369000	0.80426	0.650000	0.86243	GAC		0.682	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1		NM_001100		5	35	0	0	0	0.000602	0	5	35		
ERO1LB	56605	broad.mit.edu	37	1	236390014	236390014	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:236390014G>C	ENST00000354619.5	-	11	939	c.738C>G	c.(736-738)ttC>ttG	p.F246L		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	246					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)	p.F246L(1)		NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TAAGCTTATAGAAGACTCTTT	0.318																																						uc001hxt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(736-738)TTC>TTG		endoplasmic reticulum oxidoreductin 1-Lbeta							68.0	74.0	72.0					1																	236390014		2198	4296	6494	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236390014G>C	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.738C>G	1.37:g.236390014G>C	ENSP00000346635:p.Phe246Leu						p.F246L	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		11	994	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	246					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.738C>G	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285984	0.80803	.	.	ENSG00000086619	ENST00000354619	T	0.55588	0.51	5.89	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	M	0.65498	2.005	0.80722	D	1	D	0.60575	0.988	D	0.63877	0.919	T	0.66846	-0.5820	10	0.87932	D	0	-18.98	8.0452	0.30545	0.101:0.0:0.7428:0.1562	.	246	Q86YB8	ERO1B_HUMAN	L	246	ENSP00000346635:F246L	ENSP00000346635:F246L	F	-	3	2	ERO1LB	234456637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.211000	0.42825	2.805000	0.96524	0.579000	0.79373	TTC		0.318	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1		NM_019891		21	59	0	0	0	0.010504	0	21	59		
ZNF695	57116	broad.mit.edu	37	1	247150452	247150452	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:247150452C>G	ENST00000339986.7	-	4	1512	c.1365G>C	c.(1363-1365)aaG>aaC	p.K455N	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	455					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.K455N(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-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)			TATGAATTCTCTTATGATTAG	0.373																																						uc009xgu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1363-1365)AAG>AAC		zinc finger protein SBZF3							54.0	57.0	56.0					1																	247150452		2102	4252	6354	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247150452C>G		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1365G>C	1.37:g.247150452C>G	ENSP00000341236:p.Lys455Asn					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	p.K455N	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	1510	-	all_cancers(71;4.01e-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)	455			C2H2-type 11.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.1365G>C	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660864	0.47572	.	.	ENSG00000197472	ENST00000339986	T	0.51817	0.69	0.642	0.642	0.17765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28067	0.0692	L	0.31664	0.95	0.19300	N	0.999976	B	0.33198	0.401	B	0.26517	0.07	T	0.21484	-1.0244	9	0.59425	D	0.04	.	2.9552	0.05874	0.0:0.6523:0.0:0.3477	.	455	Q8IW36	ZN695_HUMAN	N	455	ENSP00000341236:K455N	ENSP00000341236:K455N	K	-	3	2	ZNF695	245217075	0.000000	0.05858	0.014000	0.15608	0.856000	0.48823	-0.051000	0.11885	0.638000	0.30545	0.205000	0.17691	AAG		0.373	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5		NM_020394		30	22	0	0	0	0.008361	0	30	22		
PITRM1	10531	broad.mit.edu	37	10	3205933	3205933	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:3205933G>A	ENST00000224949.4	-	7	809	c.775C>T	c.(775-777)Cac>Tac	p.H259Y	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.H259Y|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.H227Y			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	259					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.H259Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTGCTTGGGTGATAGTGAGTG	0.463																																						uc010qah.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(679-681)CAC>TAC		SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;							128.0	127.0	127.0					10																	3205933		1953	4150	6103	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3205933G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.775C>T	10.37:g.3205933G>A	ENSP00000224949:p.His259Tyr					PITRM1_uc001igr.1_Missense_Mutation_p.H259Y|PITRM1_uc001igt.1_Missense_Mutation_p.H259Y|PITRM1_uc001igu.1_Missense_Mutation_p.H251Y|PITRM1_uc010qai.1_Missense_Mutation_p.H230Y|PITRM1_uc001igw.1_Missense_Mutation_p.H259Y|uc001igx.1_5'Flank	p.H227Y			E7ES23	E7ES23_HUMAN			6	711	-			227					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.679C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	18.39	3.613028	0.66672	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.08458	3.09;3.09;3.09	5.66	5.66	0.87406	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.45736	0.1357	H	0.96239	3.79	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.999;0.996;0.999;0.999;0.999	T	0.62576	-0.6825	10	0.87932	D	0	.	19.8283	0.96626	0.0:0.0:1.0:0.0	.	252;227;259;259;259;252	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	Y	259;252;259;227	ENSP00000224949:H259Y;ENSP00000370377:H259Y;ENSP00000401201:H227Y	ENSP00000224949:H259Y	H	-	1	0	PITRM1	3195933	1.000000	0.71417	0.993000	0.49108	0.175000	0.22909	9.158000	0.94723	2.694000	0.91930	0.650000	0.86243	CAC		0.463	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2				16	76	0	0	0	0.00499	0	16	76		
PITRM1	10531	broad.mit.edu	37	10	3205948	3205948	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:3205948G>A	ENST00000224949.4	-	7	794	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.H254Y|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.H222Y			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	254					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.H254Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGAGTGGCATGAAACTGCTTA	0.458																																						uc010qah.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(664-666)CAT>TAT		SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;							137.0	135.0	136.0					10																	3205948		1958	4154	6112	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3205948G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.760C>T	10.37:g.3205948G>A	ENSP00000224949:p.His254Tyr					PITRM1_uc001igr.1_Missense_Mutation_p.H254Y|PITRM1_uc001igt.1_Missense_Mutation_p.H254Y|PITRM1_uc001igu.1_Missense_Mutation_p.H246Y|PITRM1_uc010qai.1_Missense_Mutation_p.H225Y|PITRM1_uc001igw.1_Missense_Mutation_p.H254Y|uc001igx.1_5'Flank	p.H222Y			E7ES23	E7ES23_HUMAN			6	696	-			222					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.664C>T	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.432969	0.62844	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.07216	3.21;3.21;3.21	5.66	5.66	0.87406	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.71296	2.17	0.80722	D	1	P;D;D;D;D;D	0.89917	0.874;0.995;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.91635	0.545;0.971;0.994;0.999;0.999;0.999	T	0.00518	-1.1693	10	0.56958	D	0.05	.	19.8283	0.96626	0.0:0.0:1.0:0.0	.	247;222;254;254;254;247	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	Y	254;247;254;222	ENSP00000224949:H254Y;ENSP00000370377:H254Y;ENSP00000401201:H222Y	ENSP00000224949:H254Y	H	-	1	0	PITRM1	3195948	1.000000	0.71417	0.330000	0.25442	0.042000	0.13812	9.158000	0.94723	2.694000	0.91930	0.650000	0.86243	CAT		0.458	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2				15	72	0	0	0	0.004007	0	15	72		
SVIL	6840	broad.mit.edu	37	10	29820209	29820209	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:29820209G>C	ENST00000355867.4	-	10	2770	c.2018C>G	c.(2017-2019)tCa>tGa	p.S673*	SVIL_ENST00000375400.3_Nonsense_Mutation_p.S279*|SVIL_ENST00000375398.2_Nonsense_Mutation_p.S673*	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	673					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S673*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGAATGTGAAGTGCACCT	0.333																																						uc001iut.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(2017-2019)TCA>TGA		supervillin isoform 2							137.0	116.0	123.0					10																	29820209		2203	4300	6503	SO:0001587	stop_gained	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29820209G>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2018C>G	10.37:g.29820209G>C	ENSP00000348128:p.Ser673*					SVIL_uc001iuu.1_Nonsense_Mutation_p.S279*	p.S673*	NM_021738	NP_068506	O95425	SVIL_HUMAN			10	2771	-		Breast(68;0.103)	673					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Nonsense_Mutation	SNP	ENST00000355867.4	37	c.2018C>G	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	43	10.322944	0.99383	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	.	.	.	5.81	5.81	0.92471	.	0.580733	0.17661	N	0.166336	.	.	.	.	.	.	0.41423	D	0.987811	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.196	9.0164	0.36173	0.1229:0.0:0.8771:0.0	.	.	.	.	X	279;673;673	.	.	S	-	2	0	SVIL	29860215	0.997000	0.39634	0.110000	0.21437	0.060000	0.15804	4.467000	0.60155	2.738000	0.93877	0.655000	0.94253	TCA		0.333	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1				11	51	0	0	0	0.010729	0	11	51		
BMS1	9790	broad.mit.edu	37	10	43297618	43297618	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:43297618G>A	ENST00000374518.5	+	13	2344	c.2281G>A	c.(2281-2283)Gga>Aga	p.G761R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	761					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.G761R(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCGTGACTGGAAAGTGGGA	0.413																																						uc001jaj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2281-2283)GGA>AGA		BMS1-like, ribosome assembly protein							145.0	126.0	132.0					10																	43297618		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43297618G>A	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2281G>A	10.37:g.43297618G>A	ENSP00000363642:p.Gly761Arg						p.G761R	NM_014753	NP_055568	Q14692	BMS1_HUMAN			13	2639	+			761					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2281G>A	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010229	0.75046	.	.	ENSG00000165733	ENST00000374518	T	0.59364	0.27	5.83	5.83	0.93111	.	0.053838	0.85682	N	0.000000	T	0.52980	0.1768	L	0.39020	1.185	0.80722	D	1	B	0.25390	0.125	B	0.22386	0.039	T	0.50931	-0.8769	10	0.87932	D	0	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	761	Q14692	BMS1_HUMAN	R	761	ENSP00000363642:G761R	ENSP00000363642:G761R	G	+	1	0	BMS1	42617624	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.805000	0.75191	2.763000	0.94921	0.563000	0.77884	GGA		0.413	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2		NM_014753		5	36	0	0	0	0.001168	0	5	36		
MAPK8	5599	broad.mit.edu	37	10	49632597	49632597	+	Intron	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:49632597C>T	ENST00000374189.1	+	7	869				MAPK8_ENST00000360332.3_Intron|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374174.1_Intron|MAPK8_ENST00000374182.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)	p.I219I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAGAAATGATCAAAGGTGGTG	0.338																																						uc009xnz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(655-657)ATC>ATT		mitogen-activated protein kinase 8 isoform JNK1							200.0	185.0	190.0					10																	49632597		2203	4300	6503	SO:0001627	intron_variant	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49632597C>T	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.688+395C>T	10.37:g.49632597C>T						MAPK8_uc001jgl.2_Silent_p.I219I|MAPK8_uc001jgm.2_Silent_p.I219I|MAPK8_uc001jgo.2_Silent_p.I219I|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Silent_p.I219I|MAPK8_uc010qgk.1_Silent_p.I219I|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron	p.I219I	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	7	881	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	219			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Silent	SNP	ENST00000374189.1	37	c.657C>T	CCDS7224.1																																																																																				0.338	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1				6	66	0	0	0	0.001168	0	6	66		
ADAMTS14	140766	broad.mit.edu	37	10	72489913	72489913	+	Missense_Mutation	SNP	G	G	A	rs369181052		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:72489913G>A	ENST00000373207.1	+	6	1010	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R337H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R337H(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGGTGTGTCGCTGGGCACAC	0.662																																						uc001jrh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1009-1011)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	78.0	72.0	74.0		1010,1010	4.7	1.0	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	337/1224,337/1227	72489913	1,13005	2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489913G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1010G>A	10.37:g.72489913G>A	ENSP00000362303:p.Arg337His					ADAMTS14_uc001jrg.2_Missense_Mutation_p.R337H	p.R337H	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			6	1010	+			337			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.1010G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475196	0.84640	0.0	1.16E-4	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.63744	-0.06;-0.06	4.7	4.7	0.59300	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	L	0.55103	1.725	0.58432	D	0.999997	B;P	0.38455	0.403;0.632	B;B	0.34242	0.141;0.178	T	0.59542	-0.7435	10	0.33940	T	0.23	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	337;337	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	H	337	ENSP00000362304:R337H;ENSP00000362303:R337H	ENSP00000362303:R337H	R	+	2	0	ADAMTS14	72159919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.578000	0.98200	2.608000	0.88229	0.655000	0.94253	CGC		0.662	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722		9	49	0	0	0	0.008291	0	9	49		
PPP3CB	5532	broad.mit.edu	37	10	75214185	75214185	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:75214185C>T	ENST00000360663.5	-	10	1282	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	PPP3CB_ENST00000394822.2_Missense_Mutation_p.E409K|PPP3CB_ENST00000342558.3_Missense_Mutation_p.E391K|PPP3CB_ENST00000394828.2_Missense_Mutation_p.E391K|PPP3CB_ENST00000544628.1_Missense_Mutation_p.E19K|PPP3CB_ENST00000394829.2_Missense_Mutation_p.E391K|PPP3CB_ENST00000545874.1_Missense_Mutation_p.E305K			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	391					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)	p.E54K(1)|p.E391K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AACTGGTCTTCACCTTCAGTC	0.328																																						uc001jue.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1171-1173)GAA>AAA		protein phosphatase 3, catalytic subunit, beta							134.0	126.0	129.0					10																	75214185		2203	4296	6499	SO:0001583	missense	5532							g.chr10:75214185C>T	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1171G>A	10.37:g.75214185C>T	ENSP00000353881:p.Glu391Lys					PPP3CB_uc001juf.2_Missense_Mutation_p.E391K|PPP3CB_uc001jug.2_Missense_Mutation_p.E391K|PPP3CB_uc001jui.2_Missense_Mutation_p.E409K|PPP3CB_uc001juh.2_Missense_Mutation_p.E305K|PPP3CB_uc010qkj.1_Missense_Mutation_p.E19K	p.E391K	NM_021132	NP_066955	P16298	PP2BB_HUMAN			10	1306	-	Prostate(51;0.0119)		391					P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.1171G>A	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240856	0.79912	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394828;ENST00000394823;ENST00000544628;ENST00000430762;ENST00000342558;ENST00000545874;ENST00000394822	T;T;T;T;T;T;T	0.05649	3.44;3.41;3.41;3.44;3.44;3.41;3.44	5.99	5.99	0.97316	.	0.081643	0.50627	D	0.000105	T	0.13756	0.0333	L	0.49350	1.555	0.80722	D	1	P;B;B;P;B	0.44521	0.837;0.004;0.377;0.647;0.255	P;B;B;B;B	0.47941	0.562;0.008;0.211;0.207;0.104	T	0.01090	-1.1455	10	0.30854	T	0.27	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	409;305;391;391;391	P16298-2;F5H0F8;P16298-3;Q8N1F0;P16298	.;.;.;.;PP2BB_HUMAN	K	391;391;391;54;19;44;391;305;409	ENSP00000353881:E391K;ENSP00000378306:E391K;ENSP00000378305:E391K;ENSP00000437596:E19K;ENSP00000343147:E391K;ENSP00000439876:E305K;ENSP00000378299:E409K	ENSP00000343147:E391K	E	-	1	0	PPP3CB	74884191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	2.840000	0.97914	0.655000	0.94253	GAA		0.328	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1		NM_021132		11	55	0	0	0	0.008291	0	11	55		
SFTPD	6441	broad.mit.edu	37	10	81701777	81701777	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:81701777G>A	ENST00000372292.3	-	5	523	c.483C>T	c.(481-483)ctC>ctT	p.L161L		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	161	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)	p.L161L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TAGGGCCTGCGAGGCCTCTTG	0.622																																						uc001kbh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(481-483)CTC>CTT		pulmonary surfactant-associated protein D							79.0	78.0	78.0					10																	81701777		2203	4300	6503	SO:0001819	synonymous_variant	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81701777G>A	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.483C>T	10.37:g.81701777G>A						MBL1P_uc001kbf.2_Intron	p.L161L	NM_003019	NP_003010	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		5	526	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		161			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	ENST00000372292.3	37	c.483C>T	CCDS7362.1																																																																																				0.622	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1				20	79	0	0	0	0.008871	0	20	79		
HIF1AN	55662	broad.mit.edu	37	10	102304781	102304781	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:102304781C>G	ENST00000299163.6	+	4	751	c.651C>G	c.(649-651)atC>atG	p.I217M		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	217	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.I217M(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AACGATGCATCTTATTCCCTC	0.453																																						uc001krj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(649-651)ATC>ATG		hypoxia-inducible factor 1, alpha subunit							121.0	110.0	114.0					10																	102304781		2203	4300	6503	SO:0001583	missense	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102304781C>G	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.651C>G	10.37:g.102304781C>G	ENSP00000299163:p.Ile217Met						p.I217M	NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	4	726	+		Colorectal(252;0.234)	217			JmjC.|Interaction with HIF1A.|Interaction with VHL.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	ENST00000299163.6	37	c.651C>G	CCDS7498.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964731	0.74131	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	T;T	0.72051	-0.62;-0.62	5.82	3.81	0.43845	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.045751	0.85682	D	0.000000	T	0.73536	0.3599	L	0.49513	1.565	0.58432	D	0.999994	D	0.54397	0.966	P	0.56474	0.799	T	0.70868	-0.4755	10	0.42905	T	0.14	-23.8821	10.1202	0.42616	0.0:0.8293:0.0:0.1707	.	217	Q9NWT6	HIF1N_HUMAN	M	110;217;250	ENSP00000433360:I110M;ENSP00000299163:I217M	ENSP00000299163:I217M	I	+	3	3	HIF1AN	102294771	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.621000	0.46418	0.633000	0.30452	0.561000	0.74099	ATC		0.453	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5		NM_017902		3	91	0	0	0	0.000602	0	3	91		
GBF1	8729	broad.mit.edu	37	10	104119055	104119055	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:104119055C>T	ENST00000369983.3	+	11	1300	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	347					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S347L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAGTCCCAGTCAGCATCTGTG	0.537																																						uc001kux.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1039-1041)TCA>TTA		golgi-specific brefeldin A resistant guanine							162.0	132.0	142.0					10																	104119055		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104119055C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1040C>T	10.37:g.104119055C>T	ENSP00000359000:p.Ser347Leu					GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.S347L|GBF1_uc001kuz.1_Missense_Mutation_p.S348L	p.S347L	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	11	1280	+		Colorectal(252;0.0236)	347					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.1040C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216734	0.79352	.	.	ENSG00000107862	ENST00000369983	T	0.11495	2.77	5.63	5.63	0.86233	.	0.059089	0.64402	D	0.000001	T	0.28797	0.0714	M	0.66939	2.045	0.80722	D	1	B;D;B	0.64830	0.091;0.994;0.03	B;P;B	0.57911	0.039;0.829;0.046	T	0.00266	-1.1864	10	0.35671	T	0.21	-6.6673	19.6846	0.95976	0.0:1.0:0.0:0.0	.	347;347;347	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	L	347	ENSP00000359000:S347L	ENSP00000359000:S347L	S	+	2	0	GBF1	104109045	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	7.484000	0.81180	2.644000	0.89710	0.655000	0.94253	TCA		0.537	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1				20	40	0	0	0	0.008871	0	20	40		
XPNPEP1	7511	broad.mit.edu	37	10	111640657	111640657	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:111640657G>A	ENST00000502935.1	-	11	1193	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	XPNPEP1_ENST00000322238.8_Silent_p.I358I|XPNPEP1_ENST00000369680.4_Silent_p.I315I|XPNPEP1_ENST00000430337.1_5'Flank|XPNPEP1_ENST00000369683.1_Silent_p.I244I					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.I358I(1)|p.I315I(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TGGCGATGCAGATGGGGGTGT	0.567																																						uc001kyp.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|pancreas(1)	4						c.(943-945)ATC>ATT		X-prolyl aminopeptidase (aminopeptidase P) 1,							110.0	86.0	94.0					10																	111640657		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111640657G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1074C>T	10.37:g.111640657G>A						XPNPEP1_uc009xxt.1_Silent_p.I358I|XPNPEP1_uc001kyq.1_Silent_p.I244I|XPNPEP1_uc010qrb.1_Silent_p.I358I|XPNPEP1_uc010qra.1_Silent_p.I82I	p.I315I	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	11	1085	-		Breast(234;0.174)	315						Silent	SNP	ENST00000502935.1	37	c.945C>T	CCDS7560.2																																																																																				0.567	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2				4	19	0	0	0	0.009096	0	4	19		
ZDHHC6	64429	broad.mit.edu	37	10	114205095	114205095	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:114205095A>T	ENST00000369405.3	-	2	523	c.100T>A	c.(100-102)Tgt>Agt	p.C34S	ZDHHC6_ENST00000369404.3_Missense_Mutation_p.C34S|VTI1A_ENST00000432306.1_5'Flank|VTI1A_ENST00000393077.2_5'Flank	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	34					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.C34S(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		ATGGTAGAACATATTGCTATA	0.398																																						uc001kzv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(100-102)TGT>AGT		zinc finger, DHHC-type containing 6							133.0	120.0	125.0					10																	114205095		2203	4300	6503	SO:0001583	missense	64429					integral to membrane	acyltransferase activity|zinc ion binding	g.chr10:114205095A>T	AK025605	CCDS7574.1	10q26.11	2008-05-02			ENSG00000023041	ENSG00000023041		"""Zinc fingers, DHHC-type"""	19160	protein-coding gene	gene with protein product							Standard	NM_022494		Approved	ZNF376, FLJ21952	uc001kzv.3	Q9H6R6	OTTHUMG00000019062	ENST00000369405.3:c.100T>A	10.37:g.114205095A>T	ENSP00000358413:p.Cys34Ser					VTI1A_uc001kzy.2_5'Flank|VTI1A_uc001kzz.2_5'Flank|ZDHHC6_uc001kzw.2_Missense_Mutation_p.C34S|ZDHHC6_uc009xya.1_Missense_Mutation_p.C34S|VTI1A_uc001kzx.2_5'Flank	p.C34S	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN		Epithelial(162;0.0291)|all cancers(201;0.117)	2	524	-		Colorectal(252;0.198)	34			Helical; (Potential).		D3DRB6|Q53G45|Q96IV7|Q9H605	Missense_Mutation	SNP	ENST00000369405.3	37	c.100T>A	CCDS7574.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481192	0.44147	.	.	ENSG00000023041	ENST00000369405;ENST00000369404	T;T	0.63580	0.67;-0.05	5.84	3.48	0.39840	.	0.100265	0.64402	D	0.000001	T	0.54127	0.1839	L	0.56769	1.78	0.58432	D	0.999991	P;P	0.41848	0.763;0.651	B;B	0.39027	0.288;0.198	T	0.48917	-0.8992	10	0.40728	T	0.16	-24.1354	7.8753	0.29590	0.8094:0.0:0.0675:0.1232	.	34;34	Q9H6R6-2;Q9H6R6	.;ZDHC6_HUMAN	S	34	ENSP00000358413:C34S;ENSP00000358412:C34S	ENSP00000358412:C34S	C	-	1	0	ZDHHC6	114195085	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	9.040000	0.93783	0.458000	0.26988	-0.327000	0.08410	TGT		0.398	ZDHHC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050393.1		NM_022494		11	32	0	0	0	0.010729	0	11	32		
TDRD1	56165	broad.mit.edu	37	10	115947866	115947866	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:115947866C>T	ENST00000369280.1	+	2	736	c.276C>T	c.(274-276)atC>atT	p.I92I	TDRD1_ENST00000369281.2_Silent_p.I92I|TDRD1_ENST00000251864.2_Silent_p.I92I|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Silent_p.I92I			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	92					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.I92I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CGAATGGCATCAACGGAGAAG	0.398																																						uc001lbg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(274-276)ATC>ATT		tudor domain containing 1							74.0	80.0	78.0					10																	115947866		2203	4300	6503	SO:0001819	synonymous_variant	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115947866C>T	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.276C>T	10.37:g.115947866C>T						TDRD1_uc001lbf.2_Silent_p.I83I|TDRD1_uc001lbh.1_Silent_p.I83I|TDRD1_uc001lbi.1_Silent_p.I83I	p.I92I	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	2	429	+		Colorectal(252;0.172)|Breast(234;0.188)	92					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Silent	SNP	ENST00000369280.1	37	c.276C>T																																																																																					0.398	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2				13	51	0	0	0	0.001855	0	13	51		
ABLIM1	3983	broad.mit.edu	37	10	116361688	116361688	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:116361688C>G	ENST00000277895.5	-	2	374	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Missense_Mutation_p.E33Q|ABLIM1_ENST00000369252.4_Missense_Mutation_p.E33Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	93					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.E93Q(1)|p.E33Q(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ACAGGCTTCTCTGATGGGTGG	0.493																																						uc010qsg.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)	1						c.(277-279)GAG>CAG		actin-binding LIM protein 1 isoform a							89.0	84.0	86.0					10																	116361688		2203	4300	6503	SO:0001583	missense	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116361688C>G	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.277G>C	10.37:g.116361688C>G	ENSP00000277895:p.Glu93Gln					ABLIM1_uc010qsh.1_Missense_Mutation_p.E33Q|ABLIM1_uc010qsi.1_Missense_Mutation_p.E33Q|ABLIM1_uc010qsk.1_Missense_Mutation_p.E17Q|ABLIM1_uc009xyp.2_Missense_Mutation_p.E27Q|ABLIM1_uc001lbz.1_Missense_Mutation_p.E16Q	p.E93Q	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	2	376	-		Colorectal(252;0.0373)|Breast(234;0.231)	93					A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.277G>C	CCDS7590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.27|19.27	3.795264|3.795264	0.70452|0.70452	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369256;ENST00000369260;ENST00000277895|ENST00000392955	T;T;T|.	0.27720|.	1.65;1.65;1.65|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.628939|.	0.17017|.	N|.	0.190261|.	T|T	0.54886|0.54886	0.1886|0.1886	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;D;D;B;B;B|.	0.65815|.	0.152;0.995;0.962;0.014;0.052;0.228|.	B;P;P;B;B;B|.	0.62885|.	0.02;0.908;0.718;0.017;0.09;0.093|.	T|T	0.48547|0.48547	-0.9026|-0.9026	10|5	0.56958|.	D|.	0.05|.	.|.	19.7186|19.7186	0.96134|0.96134	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	17;33;33;93;33;93|.	B7Z4H1;F8W8M4;A6NKJ2;O14639;B3KVH2;A6NCD9|.	.;.;.;ABLM1_HUMAN;.;.|.	Q|H	93;33;33;33;93;17;17;17;93|28	ENSP00000358256:E33Q;ENSP00000433629:E33Q;ENSP00000277895:E93Q|.	ENSP00000277895:E93Q|.	E|Q	-|-	1|3	0|2	ABLIM1|ABLIM1	116351678|116351678	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.956000|0.956000	0.61745|0.61745	7.487000|7.487000	0.81328|0.81328	2.659000|2.659000	0.90383|0.90383	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.493	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3				5	39	0	0	0	0.001168	0	5	39		
ZRANB1	54764	broad.mit.edu	37	10	126631257	126631257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:126631257G>C	ENST00000359653.4	+	1	566	c.195G>C	c.(193-195)ttG>ttC	p.L65F	RP11-298J20.4_ENST00000508096.1_RNA|RP11-298J20.3_ENST00000449984.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	65					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L65F(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GTAGTCCTTTGATATGTCCAG	0.413																																						uc001lic.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(193-195)TTG>TTC		zinc finger, RAN-binding domain containing 1							146.0	135.0	139.0					10																	126631257		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126631257G>C	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.195G>C	10.37:g.126631257G>C	ENSP00000352676:p.Leu65Phe					ZRANB1_uc010qug.1_Missense_Mutation_p.L91F	p.L65F	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	1	566	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	65					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.195G>C	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212102	0.58452	.	.	ENSG00000019995	ENST00000359653	T	0.19669	2.13	5.81	3.8	0.43715	.	0.068238	0.56097	D	0.000029	T	0.36386	0.0965	L	0.51422	1.61	0.58432	D	0.999996	D	0.71674	0.998	D	0.83275	0.996	T	0.05733	-1.0867	10	0.48119	T	0.1	-35.3119	9.4606	0.38783	0.0712:0.2745:0.6543:0.0	.	65	Q9UGI0	ZRAN1_HUMAN	F	65	ENSP00000352676:L65F	ENSP00000352676:L65F	L	+	3	2	ZRANB1	126621247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.160000	0.31761	1.407000	0.46875	0.655000	0.94253	TTG		0.413	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1		NM_017580		35	69	0	0	0	0.003271	0	35	69		
DPYSL4	10570	broad.mit.edu	37	10	134013904	134013904	+	Missense_Mutation	SNP	G	G	C	rs145582956		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr10:134013904G>C	ENST00000338492.4	+	9	1020	c.856G>C	c.(856-858)Gac>Cac	p.D286H	DPYSL4_ENST00000368627.1_Missense_Mutation_p.D186H|DPYSL4_ENST00000368629.1_Missense_Mutation_p.D186H	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	286					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.D286H(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCTGGGCACCGACGGTTCACA	0.677																																						uc009ybb.2		NaN																	1	Substitution - Missense(1)	p.D286D(2)	urinary_tract(1)	central_nervous_system(2)	2						c.(856-858)GAC>CAC		dihydropyrimidinase-like 4							118.0	106.0	110.0					10																	134013904		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134013904G>C	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.856G>C	10.37:g.134013904G>C	ENSP00000339850:p.Asp286His						p.D286H	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	9	1010	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	286					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.856G>C	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.397104	0.25205	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.91295	-2.82;-2.82;-2.82	4.58	3.68	0.42216	Amidohydrolase 1 (1);	0.159118	0.53938	D	0.000058	D	0.93122	0.7810	H	0.95365	3.66	0.58432	D	0.999998	B	0.28419	0.211	B	0.33750	0.169	D	0.92680	0.6157	10	0.72032	D	0.01	-26.5398	10.1941	0.43043	0.0762:0.1364:0.7874:0.0	.	286	O14531	DPYL4_HUMAN	H	286;186;186	ENSP00000339850:D286H;ENSP00000357618:D186H;ENSP00000357616:D186H	ENSP00000339850:D286H	D	+	1	0	DPYSL4	133863894	1.000000	0.71417	0.136000	0.22124	0.093000	0.18481	3.573000	0.53856	1.307000	0.44944	0.555000	0.69702	GAC		0.677	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2				10	51	0	0	0	0.001855	0	10	51		
PDDC1	347862	broad.mit.edu	37	11	771391	771391	+	Silent	SNP	G	G	A	rs202147448		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:771391G>A	ENST00000319863.8	-	6	507	c.486C>T	c.(484-486)ttC>ttT	p.F162F	PDDC1_ENST00000442059.2_Silent_p.F112F|PDDC1_ENST00000524550.1_Silent_p.F126F|PDDC1_ENST00000397472.2_Silent_p.F162F|PDDC1_ENST00000526325.1_Missense_Mutation_p.S176L|PDDC1_ENST00000529966.1_5'UTR	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	162						extracellular vesicular exosome (GO:0070062)		p.F162F(1)		kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCGGGCGAAGCCGGGGG	0.701													g|||	1	0.000199681	0.0	0.0	5008	,	,		11548	0.0		0.001	False		,,,				2504	0.0					uc001lrc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(484-486)TTC>TTT		Parkinson disease 7 domain containing 1							12.0	16.0	15.0					11																	771391		2185	4289	6474	SO:0001819	synonymous_variant	347862					extracellular region		g.chr11:771391G>A	AK128653	CCDS7713.1	11p15.5	2005-10-26			ENSG00000177225	ENSG00000177225			26616	protein-coding gene	gene with protein product							Standard	XM_005252898		Approved	FLJ34283	uc001lrc.3	Q8NB37	OTTHUMG00000133315	ENST00000319863.8:c.486C>T	11.37:g.771391G>A						PDDC1_uc010qwm.1_Silent_p.F112F|PDDC1_uc001lrd.2_Silent_p.F162F|PDDC1_uc001lrf.1_Missense_Mutation_p.S140L|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Silent_p.F112F|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Silent_p.F126F|PDDC1_uc010qwq.1_Silent_p.F76F|PDDC1_uc010qwr.1_Silent_p.F162F|PDDC1_uc010qws.1_Silent_p.F112F	p.F162F	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	511	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	162					B7ZKW5|Q2NL76|Q6ZQY0|Q8NAE0	Silent	SNP	ENST00000319863.8	37	c.486C>T	CCDS7713.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	15.60|15.60	2.882427|2.882427	0.51908|0.51908	.|.	.|.	ENSG00000177225|ENSG00000177225	ENST00000465313|ENST00000526325	.|.	.|.	.|.	4.44|4.44	-2.98|-2.98	0.05513|0.05513	.|.	.|.	.|.	.|.	.|.	T|T	0.50120|0.50120	0.1597|0.1597	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.39396|0.39396	-0.9616|-0.9616	4|7	.|0.87932	.|D	.|0	-34.3214|-34.3214	11.3159|11.3159	0.49392|0.49392	0.801:0.0:0.199:0.0|0.801:0.0:0.199:0.0	.|.	.|140	.|Q8NB37-4	.|.	C|L	13|176	.|.	.|ENSP00000436204:S140L	R|S	-|-	1|2	0|0	PDDC1|PDDC1	761391|761391	0.997000|0.997000	0.39634|0.39634	0.989000|0.989000	0.46669|0.46669	0.679000|0.679000	0.39708|0.39708	0.366000|0.366000	0.20365|0.20365	-0.433000|-0.433000	0.07286|0.07286	0.462000|0.462000	0.41574|0.41574	CGC|TCG		0.701	PDDC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258051.2		NM_182612		9	13	0	0	0	0.006214	0	9	13		
OR51D1	390038	broad.mit.edu	37	11	4661760	4661760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:4661760C>T	ENST00000357605.2	+	1	816	c.740C>T	c.(739-741)gCa>gTa	p.A247V	OR51E1_ENST00000396952.5_5'Flank	NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A247V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGAGGGCAGCACTCAAGGCT	0.537																																						uc010qyk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(739-741)GCA>GTA		olfactory receptor, family 51, subfamily D,							185.0	166.0	172.0					11																	4661760		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661760C>T	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.740C>T	11.37:g.4661760C>T	ENSP00000350222:p.Ala247Val						p.A247V	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	740	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	247			Cytoplasmic (Potential).		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.740C>T	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910900	0.17833	.	.	ENSG00000197428	ENST00000357605	T	0.00107	8.72	4.58	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	0.156481	0.29900	N	0.010901	T	0.00144	0.0004	N	0.25485	0.75	0.21740	N	0.999566	B	0.26602	0.154	B	0.38880	0.284	T	0.18935	-1.0321	10	0.87932	D	0	.	7.1102	0.25386	0.0:0.6316:0.2743:0.094	.	247	Q8NGF3	O51D1_HUMAN	V	247	ENSP00000350222:A247V	ENSP00000350222:A247V	A	+	2	0	OR51D1	4618336	0.000000	0.05858	0.970000	0.41538	0.043000	0.13939	0.553000	0.23391	1.282000	0.44496	-0.251000	0.11542	GCA		0.537	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1		NM_001004751		9	73	0	0	0	0.004482	0	9	73		
NLRP10	338322	broad.mit.edu	37	11	7982182	7982182	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:7982182G>A	ENST00000328600.2	-	2	1138	c.977C>T	c.(976-978)tCc>tTc	p.S326F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	326	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.S326F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGTGAAATAGGAGCTGAAGTA	0.517																																						uc001mfv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(976-978)TCC>TTC		NLR family, pyrin domain containing 10							114.0	110.0	111.0					11																	7982182		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982182G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.977C>T	11.37:g.7982182G>A	ENSP00000327763:p.Ser326Phe						p.S326F	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	994	-			326			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.977C>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572564	0.28092	.	.	ENSG00000182261	ENST00000328600	T	0.78816	-1.21	5.11	-1.68	0.08212	NACHT nucleoside triphosphatase (1);	0.617666	0.13597	N	0.376158	T	0.79341	0.4429	M	0.70595	2.14	0.09310	N	1	P	0.52463	0.953	P	0.56865	0.808	T	0.68194	-0.5473	10	0.72032	D	0.01	.	3.0802	0.06260	0.3527:0.0:0.3391:0.3082	.	326	Q86W26	NAL10_HUMAN	F	326	ENSP00000327763:S326F	ENSP00000327763:S326F	S	-	2	0	NLRP10	7938758	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.104000	0.15313	0.012000	0.14892	-0.182000	0.12963	TCC		0.517	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821		22	55	0	0	0	0.00278	0	22	55		
TMEM41B	440026	broad.mit.edu	37	11	9304976	9304976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9304976C>G	ENST00000528080.1	-	7	1209	c.871G>C	c.(871-873)Gag>Cag	p.E291Q		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	291					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)		p.E291Q(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TATTTTTACTCAAATTTCTGC	0.333																																						uc001mhm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(871-873)GAG>CAG		transmembrane protein 41B isoform 1							46.0	48.0	47.0					11																	9304976		2201	4296	6497	SO:0001583	missense	440026					integral to membrane		g.chr11:9304976C>G	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.871G>C	11.37:g.9304976C>G	ENSP00000433126:p.Glu291Gln					TMEM41B_uc001mhn.1_Missense_Mutation_p.E291Q	p.E291Q	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1179	-			291					D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	ENST00000528080.1	37	c.871G>C	CCDS31424.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254425	0.59212	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	.	.	.	5.96	5.02	0.67125	.	0.049615	0.85682	D	0.000000	T	0.47673	0.1458	L	0.29908	0.895	0.80722	D	1	B	0.26876	0.162	B	0.28465	0.09	T	0.41215	-0.9521	9	0.39692	T	0.17	-0.0034	15.6088	0.76696	0.0:0.8639:0.1361:0.0	.	291	Q5BJD5	TM41B_HUMAN	Q	291	.	ENSP00000299596:E291Q	E	-	1	0	TMEM41B	9261552	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.783000	0.62403	2.832000	0.97577	0.655000	0.94253	GAG		0.333	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2				2	16	0	0	0	0.004672	0	2	16		
TMEM41B	440026	broad.mit.edu	37	11	9308127	9308127	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9308127C>G	ENST00000528080.1	-	6	919	c.581G>C	c.(580-582)aGa>aCa	p.R194T	TMEM41B_ENST00000527813.1_Intron	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	194					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)		p.R194T(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GAGATGTTCTCTATGACGTTC	0.303																																						uc001mhm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(580-582)AGA>ACA		transmembrane protein 41B isoform 1							115.0	119.0	118.0					11																	9308127		2201	4295	6496	SO:0001583	missense	440026					integral to membrane		g.chr11:9308127C>G	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.581G>C	11.37:g.9308127C>G	ENSP00000433126:p.Arg194Thr					TMEM41B_uc001mhn.1_Missense_Mutation_p.R194T	p.R194T	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	6	889	-			194					D3DQU9|E9PP29|Q15055|Q4G0P0	Missense_Mutation	SNP	ENST00000528080.1	37	c.581G>C	CCDS31424.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683440	0.88542	.	.	ENSG00000166471	ENST00000299596;ENST00000528080	T;T	0.65549	-0.16;-0.16	5.54	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.86953	2.85	0.80722	D	1	D	0.60160	0.987	P	0.62089	0.898	T	0.82884	-0.0236	10	0.44086	T	0.13	-20.3666	16.7955	0.85601	0.0:0.8711:0.1289:0.0	.	194	Q5BJD5	TM41B_HUMAN	T	194	ENSP00000299596:R194T;ENSP00000433126:R194T	ENSP00000299596:R194T	R	-	2	0	TMEM41B	9264703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.701000	0.84566	1.468000	0.48064	0.650000	0.86243	AGA		0.303	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2				25	127	0	0	0	0.004656	0	25	127		
IPO7	10527	broad.mit.edu	37	11	9450660	9450660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:9450660G>A	ENST00000379719.3	+	14	1650	c.1508G>A	c.(1507-1509)aGa>aAa	p.R503K	SNORA23_ENST00000365128.1_RNA|CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	503					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)	p.R503K(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTAACAAGAAGATGTCTGATT	0.373																																						uc001mho.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|breast(1)	2						c.(1507-1509)AGA>AAA		importin 7							87.0	84.0	85.0					11																	9450660		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9450660G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1508G>A	11.37:g.9450660G>A	ENSP00000369042:p.Arg503Lys						p.R503K	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	14	1650	+			503					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1508G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	7.319	0.616639	0.14129	.	.	ENSG00000205339	ENST00000379719	T	0.64618	-0.11	6.17	5.25	0.73442	Armadillo-like helical (1);Armadillo-type fold (1);	0.156244	0.64402	D	0.000016	T	0.29158	0.0725	N	0.00742	-1.23	0.35256	D	0.779116	B	0.02656	0.0	B	0.04013	0.001	T	0.45249	-0.9274	10	0.02654	T	1	.	17.6278	0.88097	0.0:0.1231:0.8768:0.0	.	503	O95373	IPO7_HUMAN	K	503	ENSP00000369042:R503K	ENSP00000369042:R503K	R	+	2	0	IPO7	9407236	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.360000	0.44151	1.597000	0.50072	0.655000	0.94253	AGA		0.373	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1		NM_006391		19	63	0	0	0	0.006122	0	19	63		
EIF4G2	1982	broad.mit.edu	37	11	10820632	10820632	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10820632G>C	ENST00000526148.1	-	21	3075	c.2565C>G	c.(2563-2565)ttC>ttG	p.F855L	EIF4G2_ENST00000396525.2_Missense_Mutation_p.F817L|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.F855L|EIF4G2_ENST00000339995.5_Missense_Mutation_p.F855L	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.F855L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCATGTCATAGAAGTGCACAA	0.348																																						uc001mjc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2563-2565)TTC>TTG		eukaryotic translation initiation factor 4							66.0	72.0	70.0					11																	10820632		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820632G>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2565C>G	11.37:g.10820632G>C	ENSP00000433664:p.Phe855Leu					EIF4G2_uc001mjb.2_Missense_Mutation_p.F649L|EIF4G2_uc009ygf.2_Missense_Mutation_p.F649L|EIF4G2_uc001mjd.2_Missense_Mutation_p.F817L	p.F855L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	21	2982	-			855			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2565C>G	CCDS31428.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.362|7.362	0.625025|0.625025	0.14257|0.14257	.|.	.|.	ENSG00000110321|ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839|ENST00000379653	T;T;T;T;T|.	0.71222|.	-0.55;-0.55;-0.55;-0.55;-0.55|.	6.07|6.07	2.97|2.97	0.34412|0.34412	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.17619|0.17619	0.0423|0.0423	N|N	0.00811|0.00811	-1.165|-1.165	.|.	.|.	.|.	B;P|.	0.36483|.	0.3;0.555|.	B;B|.	0.32762|.	0.152;0.152|.	T|T	0.26467|0.26467	-1.0102|-1.0102	9|5	0.02654|0.59425	T|D	1|0.04	-6.0023|-6.0023	11.2656|11.2656	0.49108|0.49108	0.2088:0.0:0.7912:0.0|0.2088:0.0:0.7912:0.0	.|.	855;928|.	P78344;B4DZF2|.	IF4G2_HUMAN;.|.	L|C	855;855;855;817;928;203|236	ENSP00000433664:F855L;ENSP00000433371:F855L;ENSP00000340281:F855L;ENSP00000379778:F817L;ENSP00000434815:F203L|.	ENSP00000340281:F855L|ENSP00000368974:S236C	F|S	-|-	3|2	2|0	EIF4G2|EIF4G2	10777208|10777208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	1.272000|1.272000	0.33109|0.33109	0.361000|0.361000	0.24292|0.24292	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.348	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		20	57	0	0	0	0.008871	0	20	57		
EIF4G2	1982	broad.mit.edu	37	11	10820954	10820954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10820954G>A	ENST00000526148.1	-	20	2852	c.2342C>T	c.(2341-2343)tCt>tTt	p.S781F	EIF4G2_ENST00000396525.2_Missense_Mutation_p.S743F|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.S781F|EIF4G2_ENST00000339995.5_Missense_Mutation_p.S781F	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S781F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTTCACTAGAAATGTACTG	0.423																																						uc001mjc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2341-2343)TCT>TTT		eukaryotic translation initiation factor 4							57.0	57.0	57.0					11																	10820954		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10820954G>A	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2342C>T	11.37:g.10820954G>A	ENSP00000433664:p.Ser781Phe					EIF4G2_uc001mjb.2_Missense_Mutation_p.S575F|EIF4G2_uc009ygf.2_Missense_Mutation_p.S575F|EIF4G2_uc001mjd.2_Missense_Mutation_p.S743F	p.S781F	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	20	2759	-			781			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2342C>T	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402090	0.42613	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	6.07	6.07	0.98685	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.217265	0.49916	D	0.000135	T	0.12475	0.0303	N	0.08118	0	0.44345	D	0.997235	B;B	0.16603	0.01;0.018	B;B	0.10450	0.003;0.005	T	0.18745	-1.0327	9	0.45353	T	0.12	-6.7807	20.6593	0.99626	0.0:0.0:1.0:0.0	.	781;854	P78344;B4DZF2	IF4G2_HUMAN;.	F	781;781;781;743;854;129;163	ENSP00000433664:S781F;ENSP00000433371:S781F;ENSP00000340281:S781F;ENSP00000379778:S743F	ENSP00000340281:S781F	S	-	2	0	EIF4G2	10777530	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.558000	0.67319	2.885000	0.99019	0.655000	0.94253	TCT		0.423	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		12	32	0	0	0	0.001368	0	12	32		
EIF4G2	1982	broad.mit.edu	37	11	10821742	10821742	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10821742G>T	ENST00000526148.1	-	18	2524	c.2014C>A	c.(2014-2016)Cct>Act	p.P672T	EIF4G2_ENST00000396525.2_Missense_Mutation_p.P634T|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P672T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P672T	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.P672T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGAAGAGAGGAAAATGGGTG	0.408																																						uc001mjc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2014-2016)CCT>ACT		eukaryotic translation initiation factor 4							86.0	83.0	84.0					11																	10821742		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821742G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2014C>A	11.37:g.10821742G>T	ENSP00000433664:p.Pro672Thr					EIF4G2_uc001mjb.2_Missense_Mutation_p.P466T|EIF4G2_uc009ygf.2_Missense_Mutation_p.P466T|EIF4G2_uc001mjd.2_Missense_Mutation_p.P634T	p.P672T	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	18	2431	-			672						Missense_Mutation	SNP	ENST00000526148.1	37	c.2014C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055127	0.93793	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.95	5.95	0.96441	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69424	0.3109	M	0.80183	2.485	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70357	-0.4894	9	0.62326	D	0.03	-6.7077	20.3747	0.98911	0.0:0.0:1.0:0.0	.	672;745	P78344;B4DZF2	IF4G2_HUMAN;.	T	672;672;672;634;745;69;54	ENSP00000433664:P672T;ENSP00000433371:P672T;ENSP00000340281:P672T;ENSP00000379778:P634T;ENSP00000434815:P69T	ENSP00000340281:P672T	P	-	1	0	EIF4G2	10778318	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.732000	0.98816	2.817000	0.96982	0.563000	0.77884	CCT		0.408	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		15	40	1	0	7.93312e-07	0.00245	8.31893e-07	15	40		
EIF4G2	1982	broad.mit.edu	37	11	10825066	10825066	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:10825066C>T	ENST00000526148.1	-	9	1284	c.774G>A	c.(772-774)atG>atA	p.M258I	EIF4G2_ENST00000525995.1_5'Flank|EIF4G2_ENST00000396525.2_Missense_Mutation_p.M258I|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M258I|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M258I	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.M258I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCACTGTCCTCATTATCTGAC	0.403																																						uc001mjc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(772-774)ATG>ATA		eukaryotic translation initiation factor 4							166.0	151.0	156.0					11																	10825066		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10825066C>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.774G>A	11.37:g.10825066C>T	ENSP00000433664:p.Met258Ile					EIF4G2_uc001mjb.2_Missense_Mutation_p.M52I|EIF4G2_uc009ygf.2_Missense_Mutation_p.M52I|EIF4G2_uc001mjd.2_Missense_Mutation_p.M258I|EIF4G2_uc001mjf.1_Missense_Mutation_p.M52I|SNORD97_uc009yge.2_5'Flank	p.M258I	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	9	1191	-			258			MIF4G.			Missense_Mutation	SNP	ENST00000526148.1	37	c.774G>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526347	0.85600	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000531416;ENST00000532082	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	6.07	6.07	0.98685	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.33792	1.035	0.49051	D	0.999745	B;B;B	0.30326	0.234;0.276;0.145	B;B;B	0.33196	0.099;0.159;0.078	T	0.03829	-1.1000	9	0.52906	T	0.07	-8.5202	20.6593	0.99626	0.0:1.0:0.0:0.0	.	258;258;331	P78344-2;P78344;B4DZF2	.;IF4G2_HUMAN;.	I	258;258;258;258;331;258;258	ENSP00000433664:M258I;ENSP00000433371:M258I;ENSP00000340281:M258I;ENSP00000379778:M258I;ENSP00000431583:M258I;ENSP00000433121:M258I	ENSP00000340281:M258I	M	-	3	0	EIF4G2	10781642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.885000	0.99019	0.655000	0.94253	ATG		0.403	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		10	56	0	0	0	0.010729	0	10	56		
PLEKHA7	144100	broad.mit.edu	37	11	16812671	16812671	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:16812671G>A	ENST00000355661.3	-	20	2831	c.2821C>T	c.(2821-2823)Ctg>Ttg	p.L941L	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000448080.2_Silent_p.L942L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.L941L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	941	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.L941L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCTCTTGGCAGAGGCGGCACA	0.637																																						uc001mmo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(2821-2823)CTG>TTG		pleckstrin homology domain containing, family A							30.0	34.0	33.0					11																	16812671		2200	4294	6494	SO:0001819	synonymous_variant	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16812671G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2821C>T	11.37:g.16812671G>A						PLEKHA7_uc010rcu.1_Silent_p.L942L|PLEKHA7_uc001mmm.2_Silent_p.L44L|PLEKHA7_uc010rcv.1_Silent_p.L516L|PLEKHA7_uc001mmn.2_Silent_p.L650L	p.L941L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN			20	2836	-			941			Pro-rich.		B4DK33|B4DWC3|Q86VZ7	Silent	SNP	ENST00000355661.3	37	c.2821C>T	CCDS31434.1																																																																																				0.637	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058		7	29	0	0	0	0.001984	0	7	29		
KIF18A	81930	broad.mit.edu	37	11	28045346	28045346	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:28045346T>A	ENST00000263181.6	-	16	2846	c.2556A>T	c.(2554-2556)aaA>aaT	p.K852N		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	852					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)	p.K852N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTCGAACACGTTTGGCAAATC	0.323																																						uc001msc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2554-2556)AAA>AAT		kinesin family member 18A							147.0	134.0	138.0					11																	28045346		2201	4299	6500	SO:0001583	missense	81930				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	g.chr11:28045346T>A	AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2556A>T	11.37:g.28045346T>A	ENSP00000263181:p.Lys852Asn						p.K852N	NM_031217	NP_112494	Q8NI77	KI18A_HUMAN			16	2738	-			852					Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	ENST00000263181.6	37	c.2556A>T	CCDS7867.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031065	0.75504	.	.	ENSG00000121621	ENST00000263181	T	0.79554	-1.28	5.56	-0.0133	0.13985	.	0.000000	0.85682	D	0.000000	T	0.81093	0.4751	L	0.36672	1.1	0.48696	D	0.999699	D	0.71674	0.998	D	0.78314	0.991	T	0.77879	-0.2423	10	0.66056	D	0.02	.	7.7486	0.28883	0.0:0.4748:0.0:0.5252	.	852	Q8NI77	KI18A_HUMAN	N	852	ENSP00000263181:K852N	ENSP00000263181:K852N	K	-	3	2	KIF18A	28001922	0.997000	0.39634	1.000000	0.80357	0.783000	0.44284	0.017000	0.13399	0.112000	0.17975	0.533000	0.62120	AAA		0.323	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3		NM_031217		6	44	0	0	0	0.001984	0	6	44		
CAT	847	broad.mit.edu	37	11	34470812	34470812	+	Missense_Mutation	SNP	G	G	A	rs148918137	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:34470812G>A	ENST00000241052.4	+	2	229	c.140G>A	c.(139-141)cGt>cAt	p.R47H		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	47					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R47H(1)		breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	GTAGGGCCCCGTGGGCCCCTT	0.473																																						uc001mvm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(139-141)CGT>CAT		catalase	Fomepizole(DB01213)	G	HIS/ARG	0,4404		0,0,2202	91.0	92.0	92.0		140	3.1	0.1	11	dbSNP_134	92	2,8594	2.2+/-6.3	0,2,4296	no	missense	CAT	NM_001752.3	29	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	benign	47/528	34470812	2,12998	2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34470812G>A	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.140G>A	11.37:g.34470812G>A	ENSP00000241052:p.Arg47His					CAT_uc009ykc.1_RNA	p.R47H	NM_001752	NP_001743	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	2	223	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	47					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.140G>A	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187028	0.94923	0.0	2.33E-4	ENSG00000121691	ENST00000241052	D	0.92647	-3.08	6.02	3.12	0.35913	Catalase domain (1);Catalase, N-terminal (2);	0.178850	0.47852	D	0.000201	D	0.95903	0.8666	M	0.92923	3.36	0.58432	D	0.999999	D	0.67145	0.996	D	0.63957	0.92	D	0.94726	0.7905	10	0.87932	D	0	-11.011	8.8117	0.34971	0.1288:0.0:0.7473:0.1239	.	47	P04040	CATA_HUMAN	H	47	ENSP00000241052:R47H	ENSP00000241052:R47H	R	+	2	0	CAT	34427388	0.995000	0.38212	0.061000	0.19648	0.705000	0.40729	4.138000	0.58017	0.420000	0.25954	0.655000	0.94253	CGT		0.473	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2		NM_001752		17	72	0	0	0	0.004007	0	17	72		
PSMC3	5702	broad.mit.edu	37	11	47446777	47446777	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:47446777C>G	ENST00000298852.3	-	3	337	c.180G>C	c.(178-180)ttG>ttC	p.L60F	PSMC3_ENST00000602866.1_Missense_Mutation_p.L44F|PSMC3_ENST00000530912.1_Intron	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L60F(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGGTGACTCTCAACACTTCAC	0.473																																						uc001nfh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(178-180)TTG>TTC		proteasome 26S ATPase subunit 3							203.0	175.0	185.0					11																	47446777		2201	4298	6499	SO:0001583	missense	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47446777C>G	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.180G>C	11.37:g.47446777C>G	ENSP00000298852:p.Leu60Phe					PSMC3_uc009ylr.1_Intron	p.L60F	NM_002804	NP_002795	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	3	374	-			60					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	c.180G>C	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748552	0.69533	.	.	ENSG00000165916	ENST00000298852;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651;ENST00000527906;ENST00000526993;ENST00000531653;ENST00000528362	D	0.94376	-3.41	5.5	-1.9	0.07665	.	0.305294	0.30949	N	0.008547	D	0.86986	0.6065	L	0.47716	1.5	0.54753	D	0.999986	B	0.30511	0.282	B	0.26614	0.071	T	0.77256	-0.2655	10	0.59425	D	0.04	-11.2601	6.978	0.24688	0.1119:0.4472:0.0:0.441	.	60	P17980	PRS6A_HUMAN	F	60;25;25;25;25;25;68;44;44	ENSP00000298852:L60F	ENSP00000298852:L60F	L	-	3	2	PSMC3	47403353	0.925000	0.31364	0.994000	0.49952	0.972000	0.66771	0.102000	0.15272	-0.006000	0.14370	-0.266000	0.10368	TTG		0.473	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2		NM_002804		15	89	0	0	0	0.00245	0	15	89		
PTPRJ	5795	broad.mit.edu	37	11	48134415	48134415	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:48134415C>G	ENST00000418331.2	+	3	584	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	PTPRJ_ENST00000440289.2_Missense_Mutation_p.Q78E|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	78					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.Q78E(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGAACACCTCAGGTGGAAAC	0.468																																						uc001ngp.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(232-234)CAG>GAG		protein tyrosine phosphatase, receptor type, J							112.0	106.0	108.0					11																	48134415		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48134415C>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.232C>G	11.37:g.48134415C>G	ENSP00000400010:p.Gln78Glu					PTPRJ_uc001ngo.3_Missense_Mutation_p.Q78E	p.Q78E	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			3	587	+			78			Extracellular (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.232C>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	6.037	0.375223	0.11409	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000527952	T;T	0.37058	2.58;1.22	1.98	-3.97	0.04094	.	.	.	.	.	T	0.12860	0.0312	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.001;0.01	B;B	0.08055	0.0;0.003	T	0.18524	-1.0334	9	0.25751	T	0.34	.	0.7926	0.01060	0.392:0.2633:0.1942:0.1505	.	78;78	Q12913;Q6P4H4	PTPRJ_HUMAN;.	E	78	ENSP00000400010:Q78E;ENSP00000409733:Q78E	ENSP00000278456:Q78E	Q	+	1	0	PTPRJ	48090991	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.285000	0.01153	-1.107000	0.03004	0.205000	0.17691	CAG		0.468	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1				19	44	0	0	0	0.008871	0	19	44		
FOLH1	2346	broad.mit.edu	37	11	49229913	49229913	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:49229913G>A	ENST00000256999.2	-	1	309	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	FOLH1_ENST00000533034.1_5'UTR|FOLH1_ENST00000340334.7_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.R17C|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	17					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R17C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CAGCGCGGGCGGCGCGCGGTG	0.711																																						uc001ngy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(49-51)CGC>TGC		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						7.0	9.0	8.0					11																	49229913		2109	4161	6270	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49229913G>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.49C>T	11.37:g.49229913G>A	ENSP00000256999:p.Arg17Cys					FOLH1_uc001ngz.2_Missense_Mutation_p.R17C|FOLH1_uc009yly.2_5'UTR|FOLH1_uc009ylz.2_5'UTR|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_5'UTR	p.R17C	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			1	310	-			17			Cytoplasmic (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.49C>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716841	0.48622	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000389724	T;T	0.38887	1.11;1.14	4.19	2.09	0.27110	.	1.297700	0.05712	U	0.596148	T	0.38692	0.1050	N	0.08118	0	0.41873	D	0.990288	D;D	0.76494	0.999;0.999	P;P	0.56916	0.809;0.65	T	0.37314	-0.9711	10	0.66056	D	0.02	.	8.5547	0.33474	0.0:0.0:0.5797:0.4203	.	17;17	Q04609-8;Q04609	.;FOLH1_HUMAN	C	17	ENSP00000256999:R17C;ENSP00000349129:R17C	ENSP00000256999:R17C	R	-	1	0	FOLH1	49186489	0.894000	0.30519	0.461000	0.27105	0.316000	0.28119	1.560000	0.36331	1.078000	0.41014	0.591000	0.81541	CGC		0.711	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1		NM_004476		3	7	0	0	0	0.004672	0	3	7		
OR5M10	390167	broad.mit.edu	37	11	56344784	56344784	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:56344784C>G	ENST00000526812.2	-	1	479	c.414G>C	c.(412-414)aaG>aaC	p.K138N		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K138N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGCAAATGTTCTTGGACATCC	0.468																																						uc001niz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(412-414)AAG>AAC		olfactory receptor, family 5, subfamily M,							187.0	176.0	180.0					11																	56344784		2012	4196	6208	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344784C>G	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.414G>C	11.37:g.56344784C>G	ENSP00000436004:p.Lys138Asn						p.K138N	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	414	-			138			Cytoplasmic (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.414G>C	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113361	0.37339	.	.	ENSG00000254834	ENST00000526812	T	0.21361	2.01	4.04	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14960	0.0361	N	0.21240	0.645	0.09310	N	1	P	0.34892	0.474	B	0.37780	0.258	T	0.21449	-1.0245	9	0.41790	T	0.15	.	7.9883	0.30224	0.0:0.6076:0.3016:0.0909	.	138	Q6IEU7	OR5MA_HUMAN	N	138	ENSP00000436004:K138N	ENSP00000436004:K138N	K	-	3	2	OR5M10	56101360	0.000000	0.05858	0.030000	0.17652	0.070000	0.16714	-1.692000	0.01918	0.405000	0.25532	0.632000	0.83419	AAG		0.468	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1		NM_001004741		4	91	0	0	0	0.000602	0	4	91		
OR9I1	219954	broad.mit.edu	37	11	57886441	57886441	+	Missense_Mutation	SNP	C	C	T	rs139300657		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:57886441C>T	ENST00000302610.1	-	1	475	c.476G>A	c.(475-477)cGt>cAt	p.R159H	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R159H(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCAAGTGGTACGCAGGATGGC	0.542													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20976	0.0		0.0	False		,,,				2504	0.0					uc001nml.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(475-477)CGT>CAT		olfactory receptor, family 9, subfamily I,		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	57.0	55.0	56.0		476	4.0	1.0	11	dbSNP_134	56	5,8587	4.3+/-15.6	0,5,4291	yes	missense	OR9I1	NM_001005211.1	29	0,6,6491	TT,TC,CC		0.0582,0.0227,0.0462	benign	159/315	57886441	6,12988	2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886441C>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.476G>A	11.37:g.57886441C>T	ENSP00000302606:p.Arg159His					OR9Q1_uc001nmj.2_Intron	p.R159H	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	476	-		Breast(21;0.0589)	159			Helical; Name=4; (Potential).		Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.476G>A	CCDS31542.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.672	-0.801673	0.02841	2.27E-4	5.82E-4	ENSG00000172377	ENST00000302610	T	0.00017	9.1	4.96	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000341	T	0.00039	0.0001	N	0.01277	-0.915	0.09310	N	0.999993	B	0.33857	0.429	B	0.29176	0.099	T	0.03933	-1.0991	10	0.02654	T	1	-4.4557	7.1379	0.25539	0.0:0.7432:0.0:0.2568	.	159	Q8NGQ6	OR9I1_HUMAN	H	159	ENSP00000302606:R159H	ENSP00000302606:R159H	R	-	2	0	OR9I1	57643017	0.000000	0.05858	0.988000	0.46212	0.650000	0.38633	0.034000	0.13776	1.433000	0.47394	0.460000	0.39030	CGT		0.542	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1		NM_001005211		7	53	0	0	0	0.001984	0	7	53		
OR1S2	219958	broad.mit.edu	37	11	57970695	57970695	+	Missense_Mutation	SNP	C	C	G	rs368857095		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:57970695C>G	ENST00000302592.6	-	1	958	c.959G>C	c.(958-960)aGa>aCa	p.R320T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R320T(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGAAATTTTTCTATTGATGAG	0.428																																						uc010rkb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(958-960)AGA>ACA		olfactory receptor, family 1, subfamily S,		C	THR/ARG	1,4401	2.1+/-5.4	0,1,2200	129.0	132.0	131.0		959	-0.9	0.0	11		131	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR1S2	NM_001004459.1	71	0,2,6495	GG,GC,CC		0.0116,0.0227,0.0154	benign	320/326	57970695	2,12992	2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970695C>G	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.959G>C	11.37:g.57970695C>G	ENSP00000305469:p.Arg320Thr						p.R320T	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	959	-		Breast(21;0.0589)	320			Cytoplasmic (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.959G>C	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852130	0.32699	2.27E-4	1.16E-4	ENSG00000197887	ENST00000302592	T	0.39592	1.07	4.8	-0.859	0.10685	.	0.595822	0.15070	N	0.282289	T	0.29914	0.0748	L	0.46614	1.455	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.24835	-1.0149	10	0.66056	D	0.02	.	4.7137	0.12884	0.1495:0.3372:0.0:0.5133	.	320	Q8NGQ3	OR1S2_HUMAN	T	320	ENSP00000305469:R320T	ENSP00000305469:R320T	R	-	2	0	OR1S2	57727271	0.000000	0.05858	0.000000	0.03702	0.480000	0.33159	-1.334000	0.02665	-0.020000	0.14032	-0.136000	0.14681	AGA		0.428	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2		NM_001004459		10	97	0	0	0	0.008291	0	10	97		
CCDC86	79080	broad.mit.edu	37	11	60617418	60617418	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:60617418G>T	ENST00000227520.5	+	3	948	c.894G>T	c.(892-894)aaG>aaT	p.K298N	CCDC86_ENST00000545580.1_Missense_Mutation_p.K42N|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	298					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K298N(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						TCCAGGAGAAGAAACAGCGCC	0.607																																						uc001nqa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(892-894)AAG>AAT		coiled-coil domain containing 86							65.0	65.0	65.0					11																	60617418		2203	4299	6502	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60617418G>T	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.894G>T	11.37:g.60617418G>T	ENSP00000227520:p.Lys298Asn					CCDC86_uc001nqb.2_Missense_Mutation_p.K42N	p.K298N	NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN			3	1063	+			298			Potential.		B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.894G>T	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072235	0.55646	.	.	ENSG00000110104	ENST00000227520;ENST00000545580	T;T	0.78924	0.52;-1.22	4.67	3.75	0.43078	.	0.000000	0.85682	D	0.000000	D	0.86797	0.6019	M	0.86097	2.795	0.50813	D	0.999891	D	0.89917	1.0	D	0.87578	0.998	D	0.86558	0.1839	10	0.72032	D	0.01	-31.4185	7.3846	0.26874	0.1956:0.0:0.8044:0.0	.	298	Q9H6F5	CCD86_HUMAN	N	298;42	ENSP00000227520:K298N;ENSP00000440906:K42N	ENSP00000227520:K298N	K	+	3	2	CCDC86	60373994	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	0.551000	0.23361	1.181000	0.42912	0.462000	0.41574	AAG		0.607	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1		NM_024098		5	18	1	0	0.00198382	0.001984	0.0020249	5	18		
FADS1	3992	broad.mit.edu	37	11	61580081	61580081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:61580081C>T	ENST00000350997.7	-	3	778	c.546G>A	c.(544-546)atG>atA	p.M182I	FADS2_ENST00000574708.1_Intron|FADS1_ENST00000541683.1_5'Flank|FADS1_ENST00000542506.1_Missense_Mutation_p.M41I|FADS1_ENST00000433932.1_Missense_Mutation_p.M41I|MIR1908_ENST00000410394.1_RNA	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	125					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.M125I(1)		central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTTGGCCTTCATGAGCCCCA	0.552																																						uc010rlm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(544-546)ATG>ATA		fatty acid desaturase 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						59.0	63.0	62.0					11																	61580081		2074	4218	6292	SO:0001583	missense	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61580081C>T		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.546G>A	11.37:g.61580081C>T	ENSP00000322229:p.Met182Ile					FADS1_uc001nsh.2_Missense_Mutation_p.M41I|FADS1_uc010rln.1_Missense_Mutation_p.M41I	p.M182I	NM_013402	NP_037534	O60427	FADS1_HUMAN			3	674	-			125			Helical; (Potential).		A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Missense_Mutation	SNP	ENST00000350997.7	37	c.546G>A	CCDS8011.2	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041509	0.55003	.	.	ENSG00000149485	ENST00000350997;ENST00000412725;ENST00000433932;ENST00000542506;ENST00000540767;ENST00000545245;ENST00000545405;ENST00000421879;ENST00000544696;ENST00000466716;ENST00000544309;ENST00000539419;ENST00000448607	T;T;T;T;T;T;T;T;T;T	0.57907	0.37;2.01;2.01;1.57;1.57;1.59;1.57;0.94;0.94;0.97	5.58	5.58	0.84498	.	.	.	.	.	T	0.39306	0.1073	N	0.22421	0.69	0.80722	D	1	B	0.18461	0.028	B	0.15484	0.013	T	0.27739	-1.0065	9	0.87932	D	0	-30.9301	11.2609	0.49083	0.1404:0.7239:0.1358:0.0	.	125	O60427	FADS1_HUMAN	I	182;41;41;41;41;41;41;41;41;41;41;41;41	ENSP00000322229:M182I;ENSP00000405087:M41I;ENSP00000441403:M41I;ENSP00000441871:M41I;ENSP00000442170:M41I;ENSP00000440652:M41I;ENSP00000416043:M41I;ENSP00000443037:M41I;ENSP00000446270:M41I;ENSP00000439790:M41I	ENSP00000322229:M182I	M	-	3	0	FADS1	61336657	0.976000	0.34144	1.000000	0.80357	0.997000	0.91878	0.761000	0.26489	2.793000	0.96121	0.655000	0.94253	ATG		0.552	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2		NM_013402		6	23	0	0	0	0.00308	0	6	23		
C11orf48	79081	broad.mit.edu	37	11	62437250	62437250	+	Missense_Mutation	SNP	G	G	C	rs199556999		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:62437250G>C	ENST00000431002.2	-	1	1987	c.254C>G	c.(253-255)cCg>cGg	p.P85R	C11orf48_ENST00000354588.3_Missense_Mutation_p.P59R|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000532208.1_Missense_Mutation_p.P59R|C11orf83_ENST00000377953.3_5'Flank			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	85								p.P59R(1)		endometrium(1)|lung(5)|urinary_tract(1)	7						CACAATAGACGGCAGATGGGA	0.532																																						uc001nue.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(175-177)CCG>CGG		hypothetical protein LOC79081							132.0	128.0	129.0					11																	62437250		2202	4299	6501	SO:0001583	missense	79081							g.chr11:62437250G>C	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.254C>G	11.37:g.62437250G>C	ENSP00000416856:p.Pro85Arg					C11orf48_uc001nuf.2_Missense_Mutation_p.P59R|C11orf48_uc010rmd.1_Missense_Mutation_p.P59R|C11orf83_uc001nui.3_5'Flank	p.P59R	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN			3	611	-			85					Q96NA4	Missense_Mutation	SNP	ENST00000431002.2	37	c.176C>G		.	.	.	.	.	.	.	.	.	.	G	5.121	0.207993	0.09704	.	.	ENSG00000162194	ENST00000354588;ENST00000431002;ENST00000532208;ENST00000377954;ENST00000526490	.	.	.	4.33	2.43	0.29744	.	0.000000	0.35466	N	0.003193	T	0.33265	0.0857	N	0.19112	0.55	0.27184	N	0.960582	D;P	0.55800	0.973;0.933	P;P	0.57548	0.823;0.706	T	0.08785	-1.0705	9	0.87932	D	0	-3.222	5.9925	0.19474	0.0985:0.0:0.7191:0.1823	.	59;59	B4DYP8;Q9BQE6-2	.;.	R	59;85;59;84;59	.	ENSP00000346600:P59R	P	-	2	0	C11orf48	62193826	1.000000	0.71417	0.353000	0.25747	0.045000	0.14185	1.883000	0.39658	0.548000	0.28955	-0.336000	0.08194	CCG		0.532	C11orf48-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000395233.1		NM_024099		6	111	0	0	0	0.001984	0	6	111		
NXF1	10482	broad.mit.edu	37	11	62569095	62569095	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:62569095C>G	ENST00000532297.1	-	8	1277	c.648G>C	c.(646-648)atG>atC	p.M216I	NXF1_ENST00000294172.2_Missense_Mutation_p.M216I|NXF1_ENST00000531709.2_Missense_Mutation_p.M216I|NXF1_ENST00000531131.1_Missense_Mutation_p.M79I|NXF1_ENST00000439713.2_Missense_Mutation_p.M216I			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	216					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M216I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCGTTTGCTCATGATCAGCT	0.493																																						uc001nvf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)	3						c.(646-648)ATG>ATC		nuclear RNA export factor 1 isoform 1							176.0	177.0	177.0					11																	62569095		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62569095C>G	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.648G>C	11.37:g.62569095C>G	ENSP00000436679:p.Met216Ile					NXF1_uc001nvg.1_Missense_Mutation_p.M216I|NXF1_uc009yog.1_Missense_Mutation_p.M259I|NXF1_uc010rmh.1_Missense_Mutation_p.M79I	p.M216I	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			7	784	-			216			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.648G>C	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388003	0.82902	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.46	5.46	0.80206	.	0.038502	0.85682	D	0.000000	T	0.69824	0.3154	M	0.66506	2.035	0.80722	D	1	P;B;D;P	0.60575	0.9;0.451;0.988;0.871	D;B;D;B	0.68192	0.913;0.215;0.956;0.324	T	0.68146	-0.5486	10	0.39692	T	0.17	-30.8666	16.8154	0.85733	0.0:1.0:0.0:0.0	.	79;259;229;216	B4E227;E9PIN3;Q59E96;Q9UBU9	.;.;.;NXF1_HUMAN	I	216;216;259;216	ENSP00000294172:M216I;ENSP00000436679:M216I;ENSP00000435742:M259I;ENSP00000408864:M216I	ENSP00000294172:M216I	M	-	3	0	NXF1	62325671	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.866000	0.75506	2.573000	0.86826	0.655000	0.94253	ATG		0.493	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2		NM_006362		23	80	0	0	0	0.012319	0	23	80		
RTN3	10313	broad.mit.edu	37	11	63487538	63487538	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:63487538G>A	ENST00000377819.5	+	3	1718	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	RTN3_ENST00000339997.4_Missense_Mutation_p.E503K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E410K|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	522					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E503K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AATTCAGGCTGAAAAACCTGT	0.368																																						uc001nxq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1564-1566)GAA>AAA		reticulon 3 isoform b							40.0	44.0	42.0					11																	63487538		2199	4297	6496	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487538G>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1564G>A	11.37:g.63487538G>A	ENSP00000367050:p.Glu522Lys					RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.E503K|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.E410K|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron	p.E522K	NM_201428	NP_958831	O95197	RTN3_HUMAN			3	1751	+			522					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1564G>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	8.800	0.932662	0.18131	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.18016	2.24;2.24;2.24	5.83	3.96	0.45880	.	1.278720	0.05326	N	0.527435	T	0.14787	0.0357	L	0.27053	0.805	0.31535	N	0.660734	B;B;B	0.23377	0.084;0.051;0.084	B;B;B	0.22601	0.04;0.018;0.04	T	0.22103	-1.0226	10	0.40728	T	0.16	-10.1754	8.2127	0.31492	0.0833:0.1572:0.7595:0.0	.	410;522;503	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	K	522;503;410	ENSP00000367050:E522K;ENSP00000344106:E503K;ENSP00000442733:E410K	ENSP00000344106:E503K	E	+	1	0	RTN3	63244114	0.768000	0.28519	0.069000	0.20011	0.092000	0.18411	2.707000	0.47143	0.813000	0.34350	0.655000	0.94253	GAA		0.368	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1		NM_006054		3	32	0	0	0	0.009096	0	3	32		
KCNK4	50801	broad.mit.edu	37	11	64067068	64067068	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64067068C>G	ENST00000539216.1	+	6	1412	c.1052C>G	c.(1051-1053)tCg>tGg	p.S351W	KCNK4_ENST00000538767.1_Silent_p.L235L|TEX40_ENST00000539943.1_5'Flank|TEX40_ENST00000328404.6_5'Flank|KCNK4_ENST00000394525.2_Missense_Mutation_p.S351W|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Missense_Mutation_p.S351W			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	351					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.S351W(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GACGAGTCCTCGGATACGCAG	0.746																																						uc001nzj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1051-1053)TCG>TGG		TRAAK							25.0	30.0	28.0					11																	64067068		2179	4254	6433	SO:0001583	missense	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64067068C>G	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.1052C>G	11.37:g.64067068C>G	ENSP00000444948:p.Ser351Trp					KCNK4_uc001nzk.1_Silent_p.L235L|KCNK4_uc010rnk.1_Missense_Mutation_p.S179W|KCNK4_uc001nzl.1_Silent_p.L235L|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.S351W|KCNK4_uc001nzo.2_Missense_Mutation_p.S351W|KCNK4_uc001nzp.1_Missense_Mutation_p.S237W|C11orf20_uc009ypm.2_5'Flank	p.S351W	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN			7	1375	+			351			Cytoplasmic (Potential).		B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.1052C>G	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543937	0.86022	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.26373	1.74;1.74;1.74	3.95	3.95	0.45737	.	1.122750	0.06866	N	0.799982	T	0.42810	0.1219	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.18903	-1.0322	10	0.72032	D	0.01	.	13.9257	0.63961	0.0:1.0:0.0:0.0	.	377;351	Q9NYG8-2;Q9NYG8	.;KCNK4_HUMAN	W	351;376;351;413;351	ENSP00000402797:S351W;ENSP00000378033:S351W;ENSP00000444948:S351W	ENSP00000378033:S351W	S	+	2	0	KCNK4	63823644	1.000000	0.71417	0.992000	0.48379	0.880000	0.50808	4.955000	0.63638	2.233000	0.73108	0.561000	0.74099	TCG		0.746	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1		NM_033311		11	32	0	0	0	0.00245	0	11	32		
ATG2A	23130	broad.mit.edu	37	11	64669472	64669472	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64669472C>T	ENST00000377264.3	-	29	4193	c.4081G>A	c.(4081-4083)Gag>Aag	p.E1361K	ATG2A_ENST00000421419.2_Missense_Mutation_p.E1363K	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1361					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E1361K(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGCAGAACTCATCACTGTCC	0.622																																						uc001obx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(4081-4083)GAG>AAG		autophagy related 2A							151.0	130.0	138.0					11																	64669472		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64669472C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4081G>A	11.37:g.64669472C>T	ENSP00000366475:p.Glu1361Lys					ATG2A_uc001obw.2_Missense_Mutation_p.E126K	p.E1361K	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			29	4196	-			1361					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.4081G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692178	0.88735	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.42900	0.96;0.96	4.39	4.39	0.52855	.	0.068363	0.56097	D	0.000027	T	0.48732	0.1516	L	0.54323	1.7	0.54753	D	0.999985	D;D	0.60575	0.979;0.988	B;P	0.50659	0.444;0.647	T	0.53788	-0.8389	10	0.59425	D	0.04	.	14.8309	0.70149	0.0:1.0:0.0:0.0	.	1361;1363	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	K	1363;1361	ENSP00000410522:E1363K;ENSP00000366475:E1361K	ENSP00000366475:E1361K	E	-	1	0	ATG2A	64426048	1.000000	0.71417	0.996000	0.52242	0.715000	0.41141	6.525000	0.73795	2.172000	0.68678	0.563000	0.77884	GAG		0.622	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104		9	74	0	0	0	0.006214	0	9	74		
C11orf85	283129	broad.mit.edu	37	11	64708057	64708057	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:64708057A>C	ENST00000301896.5	-	9	608	c.535T>G	c.(535-537)Tcc>Gcc	p.S179A	C11orf85_ENST00000530444.1_Missense_Mutation_p.V122G|C11orf85_ENST00000536065.1_Missense_Mutation_p.V94G|C11orf85_ENST00000432175.1_Missense_Mutation_p.S179A	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	179								p.S179A(1)		breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTGTTTCTGGACATCAGTGAT	0.408																																						uc001ocb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(535-537)TCC>GCC		hypothetical protein LOC283129							164.0	145.0	152.0					11																	64708057		2201	4297	6498	SO:0001583	missense	283129							g.chr11:64708057A>C	AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.535T>G	11.37:g.64708057A>C	ENSP00000301896:p.Ser179Ala					C11orf85_uc001occ.1_RNA|C11orf85_uc001ocd.1_Missense_Mutation_p.V122G	p.S179A	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN			8	609	-			179					B3KS99	Missense_Mutation	SNP	ENST00000301896.5	37	c.535T>G	CCDS31603.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.322|6.322	0.427536|0.427536	0.11987|0.11987	.|.	.|.	ENSG00000168070|ENSG00000168070	ENST00000301896;ENST00000432175|ENST00000532617;ENST00000530444;ENST00000536065	.|.	.|.	.|.	4.69|4.69	0.598|0.598	0.17512|0.17512	.|.	1.266470|.	0.05527|.	N|.	0.563275|.	T|T	0.33294|0.33294	0.0858|0.0858	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B|B	0.13145|0.27882	0.007|0.192	B|B	0.12156|0.27170	0.007|0.077	T|T	0.35325|0.35325	-0.9793|-0.9793	9|8	0.02654|0.87932	T|D	1|0	-6.3188|-6.3188	4.7087|4.7087	0.12861|0.12861	0.5089:0.3862:0.1048:0.0|0.5089:0.3862:0.1048:0.0	.|.	179|122	Q3KP22|E9PPE5	CK085_HUMAN|.	A|G	179|21;122;94	.|.	ENSP00000301896:S179A|ENSP00000434568:V122G	S|V	-|-	1|2	0|0	C11orf85|C11orf85	64464633|64464633	0.061000|0.061000	0.20836|0.20836	0.252000|0.252000	0.24328|0.24328	0.058000|0.058000	0.15608|0.15608	-0.017000|-0.017000	0.12590|0.12590	0.320000|0.320000	0.23234|0.23234	0.528000|0.528000	0.53228|0.53228	TCC|GTC		0.408	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385477.1		NM_001037225		17	78	0	0	0	0.008871	0	17	78		
FIBP	9158	broad.mit.edu	37	11	65651873	65651873	+	Missense_Mutation	SNP	C	C	T	rs543932342		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:65651873C>T	ENST00000338369.2	-	9	1127	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	FIBP_ENST00000426652.2_5'Flank|FIBP_ENST00000357519.4_Missense_Mutation_p.D332N|FIBP_ENST00000533045.1_Missense_Mutation_p.R324Q	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	339					fibroblast growth factor receptor signaling pathway (GO:0008543)|platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)	p.D339N(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CGGAAGCCATCGAGGGAGTGG	0.627											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		18724	0.0		0.0	False		,,,				2504	0.0					uc001ogd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1015-1017)GAT>AAT		FGF intracellular binding protein isoform a							58.0	52.0	54.0					11																	65651873		2201	4296	6497	SO:0001583	missense	9158				fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding	g.chr11:65651873C>T	AF010187	CCDS8118.1, CCDS8119.1	11q13.1	2006-06-15			ENSG00000172500	ENSG00000172500			3705	protein-coding gene	gene with protein product		608296				9806903	Standard	NM_004214		Approved	FGFIBP	uc001ogd.3	O43427	OTTHUMG00000166846	ENST00000338369.2:c.1015G>A	11.37:g.65651873C>T	ENSP00000344572:p.Asp339Asn		OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085	FIBP_uc009yqu.2_Missense_Mutation_p.R324Q|FIBP_uc001oge.2_Missense_Mutation_p.D332N	p.D339N	NM_198897	NP_942600	O43427	FIBP_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	9	1136	-			339					A8K0J7|Q27Q85|Q6IBQ3|Q9HD65	Missense_Mutation	SNP	ENST00000338369.2	37	c.1015G>A	CCDS8119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.94|18.94	3.729908|3.729908	0.69074|0.69074	.|.	.|.	ENSG00000172500|ENSG00000172500	ENST00000338369;ENST00000357519|ENST00000533045	T;T|T	0.24908|0.50813	1.83;1.83|0.73	4.06|4.06	4.06|4.06	0.47325|0.47325	.|.	0.054097|.	0.64402|.	D|.	0.000001|.	T|T	0.43100|0.43100	0.1232|0.1232	L|L	0.58101|0.58101	1.795|1.795	0.32608|0.32608	N|N	0.52504|0.52504	B;B|B	0.31290|0.24651	0.272;0.318|0.108	B;B|B	0.28638|0.11329	0.034;0.092|0.006	T|T	0.50311|0.50311	-0.8843|-0.8843	10|9	0.66056|0.23302	D|T	0.02|0.38	-9.523|-9.523	14.1212|14.1212	0.65189|0.65189	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	332;339|324	O43427-2;O43427|E9PSD3	.;FIBP_HUMAN|.	N|Q	339;332|324	ENSP00000344572:D339N;ENSP00000350124:D332N|ENSP00000434043:R324Q	ENSP00000344572:D339N|ENSP00000434043:R324Q	D|R	-|-	1|2	0|0	FIBP|FIBP	65408449|65408449	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	5.241000|5.241000	0.65384|0.65384	2.268000|2.268000	0.75426|0.75426	0.555000|0.555000	0.69702|0.69702	GAT|CGA		0.627	FIBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000391575.2		NM_198897		4	25	0	0	0	0.000602	0	4	25		
RBM4B	83759	broad.mit.edu	37	11	66436149	66436149	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:66436149C>T	ENST00000525754.1	-	2	1694	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	RP11-658F2.8_ENST00000550837.1_RNA|RP11-658F2.8_ENST00000548810.1_RNA|RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.M342I|RBM4B_ENST00000529195.2_5'UTR			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	342	Interaction with TNPO3. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M342I(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CATACCGGGCCATGTCATACA	0.517																																						uc001oja.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1024-1026)ATG>ATA		RNA binding motif protein 4B							65.0	61.0	63.0					11																	66436149		2200	4295	6495	SO:0001583	missense	83759				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding	g.chr11:66436149C>T	AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	28842	protein-coding gene	gene with protein product			"""RNA binding motif protein 30"""	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.1026G>A	11.37:g.66436149C>T	ENSP00000433071:p.Met342Ile					RBM4B_uc001ojb.2_Missense_Mutation_p.M342I	p.M342I	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN			2	1695	-			342			Interaction with TNPO3 (By similarity).		B3KT83	Missense_Mutation	SNP	ENST00000525754.1	37	c.1026G>A	CCDS8149.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344152	0.41498	.	.	ENSG00000173914	ENST00000525754;ENST00000310046	T;T	0.22539	1.95;1.95	6.16	6.16	0.99307	.	0.259962	0.42053	D	0.000774	T	0.18964	0.0455	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.01666	-1.1300	10	0.41790	T	0.15	.	13.9086	0.63853	0.0:0.848:0.152:0.0	.	342	Q9BQ04	RBM4B_HUMAN	I	342	ENSP00000433071:M342I;ENSP00000310471:M342I	ENSP00000310471:M342I	M	-	3	0	RBM4B	66192725	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.809000	0.47971	2.937000	0.99478	0.650000	0.86243	ATG		0.517	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393851.1		NM_031492		12	32	0	0	0	0.00245	0	12	32		
CPT1A	1374	broad.mit.edu	37	11	68525189	68525189	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:68525189G>A	ENST00000265641.5	-	19	2399	c.2245C>T	c.(2245-2247)Cgc>Tgc	p.R749C	CPT1A_ENST00000539743.1_Missense_Mutation_p.R749C|CPT1A_ENST00000376618.2_Intron|CPT1A_ENST00000540367.1_Intron	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	749					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.R749C(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTCCAAAGCGATGAGAATCC	0.398																																						uc001oog.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(2245-2247)CGC>TGC		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						101.0	98.0	99.0					11																	68525189		2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68525189G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2245C>T	11.37:g.68525189G>A	ENSP00000265641:p.Arg749Cys					CPT1A_uc001oof.3_Intron|CPT1A_uc009ysj.2_Intron	p.R749C	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		19	2415	-	Esophageal squamous(3;3.28e-14)		749			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.2245C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711190	0.48517	.	.	ENSG00000110090	ENST00000265641;ENST00000538308;ENST00000539743	D;D	0.91295	-2.82;-2.82	5.0	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.96706	0.8925	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.97662	1.0161	10	0.87932	D	0	.	13.3623	0.60663	0.0754:0.0:0.9246:0.0	.	749	P50416	CPT1A_HUMAN	C	749	ENSP00000265641:R749C;ENSP00000446108:R749C	ENSP00000265641:R749C	R	-	1	0	CPT1A	68281765	1.000000	0.71417	0.970000	0.41538	0.144000	0.21451	5.352000	0.66028	1.468000	0.48064	0.563000	0.77884	CGC		0.398	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2		NM_001876		8	74	0	0	0	0.00308	0	8	74		
IGHMBP2	3508	broad.mit.edu	37	11	68703931	68703931	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:68703931C>T	ENST00000255078.3	+	13	2094	c.1983C>T	c.(1981-1983)caC>caT	p.H661H		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	661	SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.H661H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTTCCAGCCACGCTGCCACCA	0.597																																						uc001ook.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1981-1983)CAC>CAT		immunoglobulin mu binding protein 2							50.0	54.0	53.0					11																	68703931		2200	4294	6494	SO:0001819	synonymous_variant	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68703931C>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1983C>T	11.37:g.68703931C>T						IGHMBP2_uc001ool.1_Silent_p.H285H|IGHMBP2_uc001oom.1_Silent_p.H239H	p.H661H	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	2085	+			661			SS DNA-binding (By similarity).		A0PJD2|Q00443|Q14177	Silent	SNP	ENST00000255078.3	37	c.1983C>T	CCDS8187.1																																																																																				0.597	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1		NM_002180		18	72	0	0	0	0.008871	0	18	72		
CCND1	595	broad.mit.edu	37	11	69456203	69456203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:69456203C>T	ENST00000227507.2	+	1	349	c.122C>T	c.(121-123)tCg>tTg	p.S41L	CCND1_ENST00000536559.1_Missense_Mutation_p.S41L	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	41	Cyclin N-terminal.				canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.S41L(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGCGCGCCCTCGGTGTCCTAC	0.652			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	uc001opa.2		NaN		Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	IGH@|FSTL3		CLL|B-ALL|breast		1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(121-123)TCG>TTG		cyclin D1	Arsenic trioxide(DB01169)						96.0	91.0	93.0					11																	69456203		2200	4294	6494	SO:0001583	missense	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69456203C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.122C>T	11.37:g.69456203C>T	ENSP00000227507:p.Ser41Leu	Multiple Myeloma(6;0.086)					p.S41L	NM_053056	NP_444284	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		1	331	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		41			Cyclin N-terminal.		Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.122C>T	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112380	0.77210	.	.	ENSG00000110092	ENST00000227507;ENST00000542897;ENST00000539241;ENST00000536559;ENST00000535993	T;T	0.17054	2.72;2.3	4.06	4.06	0.47325	Cyclin, N-terminal (1);Cyclin-like (1);	0.249082	0.34986	N	0.003532	T	0.21022	0.0506	L	0.54965	1.715	0.53688	D	0.999977	P	0.45715	0.865	B	0.41510	0.359	T	0.07947	-1.0746	10	0.59425	D	0.04	.	16.5905	0.84764	0.0:1.0:0.0:0.0	.	41	P24385	CCND1_HUMAN	L	41	ENSP00000227507:S41L;ENSP00000438482:S41L	ENSP00000227507:S41L	S	+	2	0	CCND1	69165384	0.998000	0.40836	0.997000	0.53966	0.986000	0.74619	3.985000	0.56930	1.967000	0.57214	0.549000	0.68633	TCG		0.652	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2		NM_053056		15	63	0	0	0	0.006122	0	15	63		
IL18BP	10068	broad.mit.edu	37	11	71715792	71715792	+	IGR	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:71715792C>T	ENST00000393703.4	+	0	1788				NUMA1_ENST00000358965.6_Missense_Mutation_p.R1953Q|NUMA1_ENST00000393695.3_Missense_Mutation_p.R1967Q|NUMA1_ENST00000351960.6_Missense_Mutation_p.R831Q	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)	p.R1967Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CATGCTGGCTCGGCGCAGGGT	0.627																																						uc001orl.1		NaN								T					RARA		APL		1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(5899-5901)CGA>CAA		nuclear mitotic apparatus protein 1							45.0	45.0	45.0					11																	71715792		2200	4293	6493	SO:0001628	intergenic_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71715792C>T	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715792C>T						IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R149Q|NUMA1_uc009ysw.1_Missense_Mutation_p.R1534Q|NUMA1_uc001ork.1_Missense_Mutation_p.R831Q|NUMA1_uc001orm.1_Missense_Mutation_p.R1953Q	p.R1967Q	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			24	6072	-			1967					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	c.5900G>A	CCDS8206.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.243171|5.243171	0.95272|0.95272	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T;T	.|0.33865	.|1.39;1.8;1.79	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.44902	.|D	.|0.000410	T|T	0.51787|0.51787	0.1695|0.1695	L|L	0.32530|0.32530	0.975|0.975	0.41494|0.41494	D|D	0.988244|0.988244	.|D;D;D;D	.|0.89917	.|0.998;1.0;0.998;0.99	.|P;D;P;P	.|0.87578	.|0.905;0.998;0.905;0.712	T|T	0.54925|0.54925	-0.8220|-0.8220	5|10	.|0.72032	.|D	.|0.01	.|.	18.5904|18.5904	0.91210|0.91210	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1973;1953;1967;831	.|Q4LE64;Q14980-2;Q14980;Q9BTE9	.|.;.;NUMA1_HUMAN;.	K|Q	816|831;1953;1967;1516;940	.|ENSP00000260051:R831Q;ENSP00000351851:R1953Q;ENSP00000377298:R1967Q	.|ENSP00000260051:R831Q	E|R	-|-	1|2	0|0	NUMA1|NUMA1	71393440|71393440	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.497000|2.497000	0.45354|0.45354	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.627	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2		NM_173042		17	27	0	0	0	0.00499	0	17	27		
P2RY2	5029	broad.mit.edu	37	11	72945966	72945966	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:72945966C>T	ENST00000311131.2	+	3	1229	c.762C>T	c.(760-762)ttC>ttT	p.F254F	P2RY2_ENST00000393597.2_Silent_p.F254F|P2RY2_ENST00000393596.2_Silent_p.F254F	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	254					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.F254F(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TGGCTGTCTTCGCCCTCTGCT	0.652																																						uc001otj.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|endometrium(1)	ovary(2)|lung(1)|skin(1)	4						c.(760-762)TTC>TTT		purinergic receptor P2Y2	Suramin(DB04786)						113.0	101.0	105.0					11																	72945966		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945966C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.762C>T	11.37:g.72945966C>T						P2RY2_uc001otk.2_Silent_p.F254F|P2RY2_uc001otl.2_Silent_p.F254F	p.F254F	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	1095	+			254			Helical; Name=6; (Potential).		B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.762C>T	CCDS8219.1																																																																																				0.652	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1		NM_176072		4	42	0	0	0	0.009096	0	4	42		
P2RY2	5029	broad.mit.edu	37	11	72945972	72945972	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:72945972C>G	ENST00000311131.2	+	3	1235	c.768C>G	c.(766-768)ctC>ctG	p.L256L	P2RY2_ENST00000393597.2_Silent_p.L256L|P2RY2_ENST00000393596.2_Silent_p.L256L	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	256					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.L256L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TCTTCGCCCTCTGCTTCCTGC	0.647																																						uc001otj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(766-768)CTC>CTG		purinergic receptor P2Y2	Suramin(DB04786)						115.0	103.0	107.0					11																	72945972		2200	4293	6493	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945972C>G	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.768C>G	11.37:g.72945972C>G						P2RY2_uc001otk.2_Silent_p.L256L|P2RY2_uc001otl.2_Silent_p.L256L	p.L256L	NM_002564	NP_002555	P41231	P2RY2_HUMAN			3	1101	+			256			Helical; Name=6; (Potential).		B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.768C>G	CCDS8219.1																																																																																				0.647	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1		NM_176072		3	44	0	0	0	0.004672	0	3	44		
PAAF1	80227	broad.mit.edu	37	11	73627688	73627688	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:73627688G>A	ENST00000310571.3	+	9	971	c.918G>A	c.(916-918)ctG>ctA	p.L306L	PAAF1_ENST00000536003.1_Silent_p.L289L|PAAF1_ENST00000376384.5_Silent_p.L289L|PAAF1_ENST00000535604.1_Silent_p.L191L|PAAF1_ENST00000544552.1_Silent_p.L289L|PAAF1_ENST00000544909.1_Silent_p.L307L|PAAF1_ENST00000541951.1_Silent_p.L191L	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	306					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.L306L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TTTATCAGCTGGATGTGAGGA	0.423																																						uc001ouk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(916-918)CTG>CTA		proteasomal ATPase-associated factor 1							122.0	109.0	114.0					11																	73627688		2200	4293	6493	SO:0001819	synonymous_variant	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73627688G>A	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.918G>A	11.37:g.73627688G>A						PAAF1_uc001oul.1_Silent_p.L289L|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.L289L|PAAF1_uc001oun.1_5'Flank	p.L306L	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			9	952	+	Breast(11;7.42e-05)		306			WD 4.		A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Silent	SNP	ENST00000310571.3	37	c.918G>A	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810503	0.32053	.	.	ENSG00000175575	ENST00000540659	.	.	.	5.24	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.7574	8.9834	0.35979	0.0787:0.0:0.7735:0.1478	.	.	.	.	X	116	.	.	W	+	2	0	PAAF1	73305336	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.894000	0.48640	0.578000	0.29487	-0.182000	0.12963	TGG		0.423	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1		NM_025155		4	41	0	0	0	0.000602	0	4	41		
SYTL2	54843	broad.mit.edu	37	11	85445395	85445395	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:85445395G>A	ENST00000528231.1	-	6	1251	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SYTL2_ENST00000316356.4_Missense_Mutation_p.S326F|SYTL2_ENST00000524452.1_Missense_Mutation_p.S325F|SYTL2_ENST00000527523.1_Missense_Mutation_p.S277F|SYTL2_ENST00000389960.4_Missense_Mutation_p.S325F	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	325					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.S326F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGCTCCAGGGAGTTTGGGGA	0.448																																						uc010rth.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(973-975)TCC>TTC		synaptotagmin-like 2 isoform g							106.0	108.0	107.0					11																	85445395		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85445395G>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.974C>T	11.37:g.85445395G>A	ENSP00000431701:p.Ser325Phe					SYTL2_uc010rtg.1_Missense_Mutation_p.S326F|SYTL2_uc010rti.1_Missense_Mutation_p.S325F|SYTL2_uc010rtj.1_Missense_Mutation_p.S277F|SYTL2_uc001pbf.3_Missense_Mutation_p.S325F|SYTL2_uc010rtf.1_Missense_Mutation_p.S183F	p.S325F	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	6	1250	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	325					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.974C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914373	0.33815	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.32023	1.52;1.59;1.57;1.47;1.52	6.06	5.15	0.70609	.	.	.	.	.	T	0.45418	0.1341	L	0.56769	1.78	0.25125	N	0.990618	D;P;P;P;D	0.56521	0.976;0.951;0.903;0.883;0.971	P;P;P;P;P	0.59948	0.86;0.632;0.728;0.724;0.866	T	0.31806	-0.9930	8	.	.	.	.	9.417	0.38528	0.072:0.0:0.7837:0.1442	.	277;325;325;326;183	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	F	325;326;325;277;325	ENSP00000374610:S325F;ENSP00000318803:S326F;ENSP00000431701:S325F;ENSP00000434010:S277F;ENSP00000435238:S325F	.	S	-	2	0	SYTL2	85123043	0.270000	0.24152	0.050000	0.19076	0.063000	0.16089	2.756000	0.47549	2.880000	0.98712	0.650000	0.86243	TCC		0.448	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927		23	83	0	0	0	0.00333	0	23	83		
HEPHL1	341208	broad.mit.edu	37	11	93778980	93778980	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:93778980G>A	ENST00000315765.9	+	2	320	c.312G>A	c.(310-312)ttG>ttA	p.L104L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	104	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.L104L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCCCATCTTGAGGGCCGAAG	0.468																																						uc001pep.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(310-312)TTG>TTA		hephaestin-like 1 precursor							75.0	75.0	75.0					11																	93778980		1876	4103	5979	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93778980G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.312G>A	11.37:g.93778980G>A							p.L104L	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			2	469	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	104			Plastocyanin-like 1.|Extracellular (Potential).		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.312G>A	CCDS44710.1																																																																																				0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947		10	22	0	0	0	0.008291	0	10	22		
HEPHL1	341208	broad.mit.edu	37	11	93844129	93844129	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:93844129G>A	ENST00000315765.9	+	18	3114	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1036	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.E1040K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCAAACCATTGAACTGTTTGC	0.438																																						uc001pep.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(3106-3108)GAA>AAA		hephaestin-like 1 precursor							89.0	89.0	89.0					11																	93844129		2087	4241	6328	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93844129G>A	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3106G>A	11.37:g.93844129G>A	ENSP00000313699:p.Glu1036Lys					uc001pen.1_Intron	p.E1036K	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			18	3263	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	1036			Extracellular (Potential).|Plastocyanin-like 6.		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.3106G>A	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278018	0.95459	.	.	ENSG00000181333	ENST00000315765	D	0.99674	-6.36	5.97	5.97	0.96955	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	L	0.55743	1.74	0.52099	D	0.999946	P	0.41498	0.752	P	0.48654	0.585	D	0.99889	1.1129	10	0.38643	T	0.18	-13.8097	20.4363	0.99089	0.0:0.0:1.0:0.0	.	1036	Q6MZM0	HPHL1_HUMAN	K	1036	ENSP00000313699:E1036K	ENSP00000313699:E1036K	E	+	1	0	HEPHL1	93483777	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.394000	0.79862	2.840000	0.97914	0.655000	0.94253	GAA		0.438	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2		XM_291947		9	14	0	0	0	0.008291	0	9	14		
MMP8	4317	broad.mit.edu	37	11	102584518	102584518	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:102584518C>G	ENST00000236826.3	-	9	1359	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	421					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.E421Q(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ACTTTACTCTCTATTCCTGGA	0.348																																						uc001phe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(1)	4						c.(1261-1263)GAG>CAG		matrix metalloproteinase 8 preproprotein							182.0	182.0	182.0					11																	102584518		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584518C>G	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1261G>C	11.37:g.102584518C>G	ENSP00000236826:p.Glu421Gln					MMP8_uc010rut.1_Nonstop_Mutation_p.*304Y|MMP8_uc010ruu.1_Missense_Mutation_p.E398Q	p.E421Q	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	9	1360	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	421			Hemopexin-like 3.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.1261G>C	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.081|0.081	-1.183650|-1.183650	0.01620|0.01620	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000236826;ENST00000544383|ENST00000534942	T|.	0.02709|.	4.19|.	5.5|5.5	-1.25|-1.25	0.09405|0.09405	Hemopexin/matrixin (2);|.	1.744600|.	0.02849|.	N|.	0.128847|.	T|T	0.41719|0.41719	0.1171|0.1171	L|L	0.58810|0.58810	1.83|1.83	0.09310|0.09310	N|N	1|1	P;P|.	0.43909|.	0.821;0.578|.	P;B|.	0.54372|.	0.75;0.361|.	T|T	0.44772|0.44772	-0.9306|-0.9306	10|6	0.66056|0.66056	D|D	0.02|0.02	.|.	5.6134|5.6134	0.17418|0.17418	0.0:0.4544:0.2434:0.3022|0.0:0.4544:0.2434:0.3022	.|.	421;421|.	A8K9E4;P22894|.	.;MMP8_HUMAN|.	Q|T	421;398|304	ENSP00000236826:E421Q|.	ENSP00000236826:E421Q|ENSP00000440388:R304T	E|R	-|-	1|2	0|0	MMP8|MMP8	102089728|102089728	0.003000|0.003000	0.15002|0.15002	0.003000|0.003000	0.11579|0.11579	0.188000|0.188000	0.23474|0.23474	0.033000|0.033000	0.13754|0.13754	0.022000|0.022000	0.15160|0.15160	-0.300000|-0.300000	0.09419|0.09419	GAG|AGA		0.348	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1		NM_002424		14	71	0	0	0	0.003163	0	14	71		
GUCY1A2	2977	broad.mit.edu	37	11	106849346	106849346	+	Splice_Site	SNP	G	G	A	rs529533537		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:106849346G>A	ENST00000526355.2	-	3	954	c.486C>T	c.(484-486)ctC>ctT	p.L162L	GUCY1A2_ENST00000282249.2_Splice_Site_p.L162L|GUCY1A2_ENST00000347596.2_Splice_Site_p.L162L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	162					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.L162L(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTAATATACCGAGTATATTAG	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		16504	0.0		0.0	False		,,,				2504	0.001					uc001pjg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8						c.(484-486)CTC>CTT		guanylate cyclase 1, soluble, alpha 2							78.0	77.0	77.0					11																	106849346		2200	4297	6497	SO:0001630	splice_region_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106849346G>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.487+1C>T	11.37:g.106849346G>A						GUCY1A2_uc010rvo.1_Silent_p.L162L|GUCY1A2_uc009yxn.1_Silent_p.L162L	p.L162L	NM_000855	NP_000846	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	3	876	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	162					A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.486C>T	CCDS8335.1																																																																																				0.368	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			Silent	3	22	0	0	0	0.009096	0	3	22		
TTC12	54970	broad.mit.edu	37	11	113210177	113210177	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113210177G>C	ENST00000529221.1	+	10	912	c.807G>C	c.(805-807)ctG>ctC	p.L269L	TTC12_ENST00000314756.3_Silent_p.L269L|TTC12_ENST00000393020.1_Silent_p.L269L|TTC12_ENST00000483239.2_Silent_p.L275L	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	269								p.L269L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTGAGATCCTGACTGAAATGA	0.498																																						uc001pnu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(805-807)CTG>CTC		tetratricopeptide repeat domain 12							112.0	106.0	108.0					11																	113210177		2201	4296	6497	SO:0001819	synonymous_variant	54970						binding	g.chr11:113210177G>C	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.807G>C	11.37:g.113210177G>C						TTC12_uc001pnv.2_Silent_p.L275L|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.L119L	p.L269L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	10	912	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	269					Q8N5H9|Q9NWY3	Silent	SNP	ENST00000529221.1	37	c.807G>C	CCDS8360.2																																																																																				0.498	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2		NM_017868		11	52	0	0	0	0.001368	0	11	52		
CLDN25	644672	broad.mit.edu	37	11	113650985	113650985	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113650985C>G	ENST00000453129.2	+	1	517	c.468C>G	c.(466-468)atC>atG	p.I156M		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.I156M(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCCTGACATCATACCTCGGT	0.582																																						uc009yyw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(466-468)ATC>ATG		claudin 25							79.0	83.0	82.0					11																	113650985		1978	4143	6121	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650985C>G		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.468C>G	11.37:g.113650985C>G	ENSP00000396304:p.Ile156Met						p.I156M	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	468	+			156			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000453129.2	37	c.468C>G	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525770	0.27299	.	.	ENSG00000228607	ENST00000453129	T	0.62105	0.05	5.08	0.237	0.15475	.	.	.	.	.	T	0.67850	0.2937	M	0.77820	2.39	0.22521	N	0.999029	P	0.46784	0.884	P	0.50537	0.643	T	0.58457	-0.7633	9	0.40728	T	0.16	.	9.315	0.37928	0.0:0.4164:0.0:0.5836	.	156	C9JDP6	CLD25_HUMAN	M	156	ENSP00000396304:I156M	ENSP00000396304:I156M	I	+	3	3	CLDN25	113156195	0.095000	0.21747	0.989000	0.46669	0.213000	0.24496	-0.736000	0.04882	-0.118000	0.11851	-0.822000	0.03109	ATC		0.582	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1		NM_001101389		6	26	0	0	0	0.001168	0	6	26		
CLDN25	644672	broad.mit.edu	37	11	113651015	113651015	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:113651015C>G	ENST00000453129.2	+	1	547	c.498C>G	c.(496-498)ctC>ctG	p.L166L		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L166L(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GAGGTGCCCTCTACTTGGGCT	0.557																																						uc009yyw.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(496-498)CTC>CTG		claudin 25							83.0	88.0	86.0					11																	113651015		1993	4161	6154	SO:0001819	synonymous_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113651015C>G		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.498C>G	11.37:g.113651015C>G							p.L166L	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	498	+			166			Helical; (Potential).			Silent	SNP	ENST00000453129.2	37	c.498C>G	CCDS44736.1																																																																																				0.557	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1		NM_001101389		10	17	0	0	0	0.006214	0	10	17		
APOA5	116519	broad.mit.edu	37	11	116661323	116661323	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:116661323C>G	ENST00000227665.4	-	3	656	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.E208Q			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	208					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.E208Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CGGTGCAGCTCCTGCACGTGG	0.706																																						uc001ppr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(622-624)GAG>CAG		apolipoprotein AV precursor							12.0	15.0	14.0					11																	116661323		2166	4239	6405	SO:0001583	missense	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661323C>G	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.622G>C	11.37:g.116661323C>G	ENSP00000227665:p.Glu208Gln					ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.E208Q|APOA5_uc009yzf.2_Missense_Mutation_p.E208Q|APOA5_uc009yzg.2_Missense_Mutation_p.E234Q	p.E208Q	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	630	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	208					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	ENST00000227665.4	37	c.622G>C	CCDS8376.2	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002478	0.54254	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.75260	-0.92;-0.92	4.84	3.92	0.45320	Apolipoprotein/apolipophorin (1);	0.271346	0.26048	N	0.026647	T	0.75170	0.3813	M	0.80982	2.52	0.40286	D	0.978459	P;B	0.36162	0.54;0.262	B;B	0.36845	0.234;0.182	T	0.77222	-0.2667	10	0.45353	T	0.12	-18.7071	13.3397	0.60538	0.0:0.842:0.158:0.0	.	205;208	B0YIW1;Q6Q788	.;APOA5_HUMAN	Q	208	ENSP00000227665:E208Q;ENSP00000445002:E208Q	ENSP00000227665:E208Q	E	-	1	0	APOA5	116166533	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.254000	0.51477	1.245000	0.43885	0.650000	0.86243	GAG		0.706	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2				9	14	0	0	0	0.006214	0	9	14		
UBE4A	9354	broad.mit.edu	37	11	118267074	118267074	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118267074G>C	ENST00000431736.2	+	20	3213	c.3141G>C	c.(3139-3141)caG>caC	p.Q1047H	RP11-770J1.5_ENST00000531742.1_5'Flank|UBE4A_ENST00000545354.1_Missense_Mutation_p.Q512H|UBE4A_ENST00000252108.3_Missense_Mutation_p.Q1040H					ubiquitination factor E4A									p.Q1047H(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCATGGACCAGATCCGGCCAA	0.418																																						uc001psw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(3118-3120)CAG>CAC		ubiquitination factor E4A							98.0	94.0	95.0					11																	118267074		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118267074G>C	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3141G>C	11.37:g.118267074G>C	ENSP00000387362:p.Gln1047His					UBE4A_uc001psv.2_Missense_Mutation_p.Q1047H	p.Q1040H	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	20	3249	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1040			U-box.			Missense_Mutation	SNP	ENST00000431736.2	37	c.3120G>C	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606695	0.87157	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.50548	0.75;0.74	5.29	4.38	0.52667	Zinc finger, RING/FYVE/PHD-type (1);U box domain (2);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.83483	2.645	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.981;0.963	T	0.74134	-0.3763	10	0.59425	D	0.04	-9.113	13.7638	0.62981	0.0736:0.0:0.9264:0.0	.	1040;1047	Q14139;Q14139-2	UBE4A_HUMAN;.	H	1040;1047;512	ENSP00000252108:Q1040H;ENSP00000387362:Q1047H	ENSP00000252108:Q1040H	Q	+	3	2	UBE4A	117772284	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.773000	0.85462	1.218000	0.43458	0.650000	0.86243	CAG		0.418	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1		NM_004788		6	60	0	0	0	0.006214	0	6	60		
UBE4A	9354	broad.mit.edu	37	11	118267125	118267125	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118267125G>C	ENST00000431736.2	+	20	3264	c.3192G>C	c.(3190-3192)gaG>gaC	p.E1064D	RP11-770J1.5_ENST00000531742.1_5'Flank|UBE4A_ENST00000545354.1_Missense_Mutation_p.E529D|UBE4A_ENST00000252108.3_Missense_Mutation_p.E1057D					ubiquitination factor E4A									p.E1064D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTTGCAGAGAGGAAACAAC	0.438																																						uc001psw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(3169-3171)GAG>GAC		ubiquitination factor E4A							84.0	82.0	83.0					11																	118267125		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118267125G>C	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.3192G>C	11.37:g.118267125G>C	ENSP00000387362:p.Glu1064Asp					UBE4A_uc001psv.2_Missense_Mutation_p.E1064D	p.E1057D	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	20	3300	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	1057						Missense_Mutation	SNP	ENST00000431736.2	37	c.3171G>C	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415157	0.42817	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T	0.51817	0.69;0.69	5.24	1.05	0.20165	U box domain (1);	0.196730	0.45606	D	0.000355	T	0.27967	0.0689	N	0.17901	0.54	0.40865	D	0.983868	B;B	0.11235	0.004;0.001	B;B	0.16289	0.015;0.004	T	0.06285	-1.0835	10	0.23302	T	0.38	-11.6387	9.0061	0.36113	0.3175:0.0:0.6825:0.0	.	1057;1064	Q14139;Q14139-2	UBE4A_HUMAN;.	D	1057;1064;529	ENSP00000252108:E1057D;ENSP00000387362:E1064D	ENSP00000252108:E1057D	E	+	3	2	UBE4A	117772335	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	1.032000	0.30178	-0.070000	0.12908	0.650000	0.86243	GAG		0.438	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1		NM_004788		7	48	0	0	0	0.006214	0	7	48		
MFRP	83552	broad.mit.edu	37	11	119212379	119212379	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:119212379G>C	ENST00000530681.1	-	13	1763	c.1619C>G	c.(1618-1620)tCt>tGt	p.S540C	C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000360167.4_Missense_Mutation_p.S422C|MFRP_ENST00000449574.2_Missense_Mutation_p.S540C|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Missense_Mutation_p.S540C	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	540	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S540C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CTGGCAGACAGAGCGGCAAGG	0.647																																						uc001pwj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1618-1620)TCT>TGT		membrane frizzled-related protein							31.0	37.0	35.0					11																	119212379		2199	4295	6494	SO:0001583	missense	83552					collagen		g.chr11:119212379G>C	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1619C>G	11.37:g.119212379G>C	ENSP00000456533:p.Ser540Cys					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S422C	p.S540C	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	13	1779	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1619C>G	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756067	0.89843	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.59364	0.27;0.27;0.27	4.89	4.89	0.63831	Frizzled domain (4);	0.061502	0.64402	D	0.000003	T	0.81626	0.4862	M	0.92604	3.325	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.969	D	0.86621	0.1879	10	0.66056	D	0.02	-16.1228	17.6759	0.88230	0.0:0.0:1.0:0.0	.	422;540	B4DHN8;Q9BY79	.;MFRP_HUMAN	C	540;540;422	ENSP00000450509:S540C;ENSP00000391664:S540C;ENSP00000353291:S422C	ENSP00000353291:S422C	S	-	2	0	MFRP	118717589	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.380000	0.79704	2.249000	0.74217	0.561000	0.74099	TCT		0.647	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1		NM_031433		14	26	0	0	0	0.001855	0	14	26		
OR10G9	219870	broad.mit.edu	37	11	123893845	123893845	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:123893845C>A	ENST00000375024.1	+	1	126	c.126C>A	c.(124-126)ctC>ctA	p.L42L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L42L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAACCTCCTCATCCTGCTGG	0.572																																						uc010sad.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)	2						c.(124-126)CTC>CTA		olfactory receptor, family 10, subfamily G,							107.0	98.0	101.0					11																	123893845		2201	4296	6497	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893845C>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.126C>A	11.37:g.123893845C>A							p.L42L	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	126	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	42			Helical; Name=1; (Potential).			Silent	SNP	ENST00000375024.1	37	c.126C>A	CCDS31703.1																																																																																				0.572	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1		NM_001001953		25	62	1	0	3.1745e-13	0.008361	3.38548e-13	25	62		
OR10G7	390265	broad.mit.edu	37	11	123909583	123909583	+	Silent	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:123909583G>T	ENST00000330487.5	-	1	134	c.126C>A	c.(124-126)ctC>ctA	p.L42L		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L42L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCAGCAGGATGAGGAGGTTCC	0.577																																						uc001pzq.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(124-126)CTC>CTA		olfactory receptor, family 10, subfamily G,							46.0	43.0	44.0					11																	123909583		2200	4291	6491	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909583G>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.126C>A	11.37:g.123909583G>T							p.L42L	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	126	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	42			Helical; Name=1; (Potential).		Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.126C>A	CCDS31705.1																																																																																				0.577	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1		NM_001004463		5	54	1	0	5.18039e-06	0.00308	5.39136e-06	5	54		
VWA5A	4013	broad.mit.edu	37	11	124012328	124012328	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:124012328G>C	ENST00000456829.2	+	16	2154	c.1903G>C	c.(1903-1905)Gac>Cac	p.D635H	VWA5A_ENST00000392748.1_Missense_Mutation_p.D635H|VWA5A_ENST00000360334.4_Silent_p.L396L	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	635								p.D635H(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTTACACTCTGACCGTCCTCC	0.463																																						uc001pzu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1903-1905)GAC>CAC		BCSC-1 isoform 1							194.0	174.0	181.0					11																	124012328		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124012328G>C	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1903G>C	11.37:g.124012328G>C	ENSP00000407726:p.Asp635His					VWA5A_uc001pzt.2_Missense_Mutation_p.D635H	p.D635H	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			16	2112	+			635					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1903G>C	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	4.303	0.055537	0.08291	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04015	3.73;3.73	2.28	-1.82	0.07857	.	14.393000	0.00166	N	0.000000	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41324	-0.9515	10	0.44086	T	0.13	.	0.2856	0.00251	0.2126:0.1925:0.3068:0.288	.	635	O00534	VMA5A_HUMAN	H	635	ENSP00000407726:D635H;ENSP00000376504:D635H	ENSP00000376504:D635H	D	+	1	0	VWA5A	123517538	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.573000	0.05874	-0.398000	0.07679	0.205000	0.17691	GAC		0.463	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1		NM_014622		25	47	0	0	0	0.005443	0	25	47		
OR8D1	283159	broad.mit.edu	37	11	124179832	124179832	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:124179832G>C	ENST00000357821.2	-	1	901	c.831C>G	c.(829-831)ttC>ttG	p.F277L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F277L(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCGTGGTGTAGAACACAGAGG	0.453																																						uc010sag.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(829-831)TTC>TTG		olfactory receptor, family 8, subfamily D,							111.0	107.0	108.0					11																	124179832		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124179832G>C	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.831C>G	11.37:g.124179832G>C	ENSP00000350474:p.Phe277Leu						p.F277L	NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	831	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	277			Helical; Name=7; (Potential).		B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.831C>G	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.724776	0.30593	.	.	ENSG00000196341	ENST00000357821	T	0.00032	8.88	4.29	-4.61	0.03380	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	U	0.001755	T	0.00241	0.0007	L	0.57536	1.79	0.09310	N	1	D	0.61697	0.99	P	0.62491	0.903	T	0.50320	-0.8842	10	0.72032	D	0.01	.	4.5775	0.12241	0.1813:0.1834:0.5347:0.1006	.	277	Q8WZ84	OR8D1_HUMAN	L	277	ENSP00000350474:F277L	ENSP00000350474:F277L	F	-	3	2	OR8D1	123685042	0.000000	0.05858	0.291000	0.24904	0.010000	0.07245	-2.821000	0.00749	-0.597000	0.05813	-0.363000	0.07495	TTC		0.453	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1		NM_001002917		22	30	0	0	0	0.002299	0	22	30		
ACAD8	27034	broad.mit.edu	37	11	134131719	134131719	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:134131719G>A	ENST00000281182.4	+	9	1133	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ACAD8_ENST00000537423.1_Missense_Mutation_p.E266K|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.E216K	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	343					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)	p.E343*(1)|p.E343K(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	TCTGCAGGAGGAGAGGAAGGA	0.567																																					GBM(65;238 1125 33403 41853 48889)	uc001qhk.2		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|lung(1)		0						c.(1027-1029)GAG>AAG		acyl-Coenzyme A dehydrogenase family, member 8							138.0	102.0	114.0					11																	134131719		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134131719G>A	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.1027G>A	11.37:g.134131719G>A	ENSP00000281182:p.Glu343Lys					ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.E266K|ACAD8_uc001qhl.2_Missense_Mutation_p.E216K	p.E343K	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	9	1088	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	343					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.1027G>A	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	G	1.758	-0.487560	0.04352	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000374752	D;D;D	0.95821	-3.82;-3.82;-3.82	5.69	4.78	0.61160	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.534779	0.21110	N	0.080019	D	0.84023	0.5381	N	0.00996	-1.065	0.36811	D	0.88588	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.80405	-0.1396	10	0.05620	T	0.96	.	16.5046	0.84266	0.0:0.1387:0.8613:0.0	.	266;216;343	B7Z5W4;Q6ZWP6;Q9UKU7	.;.;ACAD8_HUMAN	K	343;266;216	ENSP00000281182:E343K;ENSP00000443763:E266K;ENSP00000363884:E216K	ENSP00000281182:E343K	E	+	1	0	ACAD8	133636929	1.000000	0.71417	0.640000	0.29408	0.005000	0.04900	4.421000	0.59848	1.395000	0.46643	0.561000	0.74099	GAG		0.567	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1		NM_014384		14	27	0	0	0	0.00245	0	14	27		
GLB1L2	89944	broad.mit.edu	37	11	134244148	134244148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:134244148G>T	ENST00000535456.2	+	17	1893	c.1705G>T	c.(1705-1707)Gag>Tag	p.E569*	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Nonsense_Mutation_p.E569*|GLB1L2_ENST00000389881.3_Nonsense_Mutation_p.E569*	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	569					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)	p.E569*(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTGAAGCTGGAGGTTGGTAA	0.567																																						uc001qhp.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1705-1707)GAG>TAG		galactosidase, beta 1-like 2 precursor							184.0	150.0	161.0					11																	134244148		2201	4297	6498	SO:0001587	stop_gained	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134244148G>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1705G>T	11.37:g.134244148G>T	ENSP00000444628:p.Glu569*					GLB1L2_uc009zdg.1_RNA	p.E569*	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	17	1893	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	569					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Nonsense_Mutation	SNP	ENST00000535456.2	37	c.1705G>T	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.999841|5.999841	0.97189|0.97189	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.113972|.	0.64402|.	D|.	0.000011|.	.|T	.|0.65386	.|0.2686	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69950	.|-0.5006	.|3	0.07175|.	T|.	0.84|.	-39.5319|-39.5319	13.9749|13.9749	0.64265|0.64265	0.0:0.1521:0.8479:0.0|0.0:0.1521:0.8479:0.0	.|.	.|.	.|.	.|.	X|V	569|507	.|.	ENSP00000344659:E569X|.	E|G	+|+	1|2	0|0	GLB1L2|GLB1L2	133749358|133749358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	2.778000|2.778000	0.47726|0.47726	2.608000|2.608000	0.88229|0.88229	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.567	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2		NM_138342		6	86	1	0	3.59834e-05	0.001168	3.71684e-05	6	86		
SLC6A13	6540	broad.mit.edu	37	12	331745	331745	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:331745G>A	ENST00000343164.4	-	13	1520	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S	SLC6A13_ENST00000539668.1_Intron|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P398S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	490					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P490S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGATAAGAGGCCATGGCCTG	0.478																																						uc001qic.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1468-1470)CCT>TCT		solute carrier family 6 (neurotransmitter							94.0	80.0	85.0					12																	331745		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:331745G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1468C>T	12.37:g.331745G>A	ENSP00000339260:p.Pro490Ser					SLC6A13_uc009zdj.1_Missense_Mutation_p.P480S|SLC6A13_uc010sdl.1_Missense_Mutation_p.P398S	p.P490S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		13	1521	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		490			Helical; Name=11; (Potential).		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.1468C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801756	0.31869	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.73789	-0.78;-0.78	5.39	5.39	0.77823	.	0.105920	0.64402	D	0.000003	T	0.70037	0.3178	L	0.52364	1.645	0.41589	D	0.988787	B;B;B	0.21225	0.04;0.053;0.031	B;B;B	0.37144	0.05;0.242;0.242	T	0.63703	-0.6577	10	0.21540	T	0.41	.	7.8563	0.29485	0.1239:0.1473:0.7288:0.0	.	398;469;490	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	S	398;469;490	ENSP00000407104:P398S;ENSP00000339260:P490S	ENSP00000318097:P469S	P	-	1	0	SLC6A13	202006	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	1.872000	0.39549	2.527000	0.85204	0.561000	0.74099	CCT		0.478	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1		NM_016615		9	11	0	0	0	0.001368	0	9	11		
KCNA1	3736	broad.mit.edu	37	12	5021802	5021802	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:5021802G>C	ENST00000382545.3	+	2	2365	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	420					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.E420Q(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CCGAGAAACTGAGGGGGAAGA	0.527																																						uc001qnh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1258-1260)GAG>CAG		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						242.0	244.0	243.0					12																	5021802		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021802G>C	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1258G>C	12.37:g.5021802G>C	ENSP00000371985:p.Glu420Gln						p.E420Q	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2363	+			420					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.1258G>C	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474008	0.63737	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.96459	-4.02	5.16	5.16	0.70880	.	0.051570	0.85682	D	0.000000	D	0.97155	0.9070	M	0.84219	2.685	0.80722	D	1	P	0.41546	0.754	P	0.47346	0.544	D	0.97746	1.0211	10	0.72032	D	0.01	.	18.1875	0.89796	0.0:0.0:1.0:0.0	.	420	Q09470	KCNA1_HUMAN	Q	420	ENSP00000371985:E420Q	ENSP00000228858:E420Q	E	+	1	0	KCNA1	4892063	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.840000	0.97914	0.655000	0.94253	GAG		0.527	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2		NM_000217		6	569	0	0	0	0.001984	0	6	569		
CHD4	1108	broad.mit.edu	37	12	6710690	6710690	+	Silent	SNP	G	G	T	rs200100295		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:6710690G>T	ENST00000357008.2	-	6	727	c.564C>A	c.(562-564)ctC>ctA	p.L188L	CHD4_ENST00000544484.1_Silent_p.L185L|CHD4_ENST00000544040.1_Silent_p.L181L|CHD4_ENST00000309577.6_Silent_p.L188L	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	188					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.L188L(2)		central_nervous_system(2)	2						TGGCAGCAATGAGGGGTCTGG	0.438																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(2)	2						c.(562-564)CTC>CTA		chromodomain helicase DNA binding protein 4							214.0	239.0	231.0					12																	6710690		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6710690G>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.564C>A	12.37:g.6710690G>T						CHD4_uc001qpn.2_Silent_p.L181L|CHD4_uc001qpp.2_Silent_p.L185L	p.L188L	NM_001273	NP_001264	Q14839	CHD4_HUMAN			6	728	-			188					Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.564C>A	CCDS8552.1																																																																																				0.438	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273		345	360	1	0	8.96267e-189	0.00361	9.61779e-189	345	360		
CD163	9332	broad.mit.edu	37	12	7647847	7647847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:7647847C>T	ENST00000359156.4	-	6	1452	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	CD163_ENST00000541972.1_Missense_Mutation_p.G405E|CD163_ENST00000396620.3_Missense_Mutation_p.G417E|CD163_ENST00000432237.2_Missense_Mutation_p.G417E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	417	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.G417E(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GAGTGCAGATCCACATCCCAG	0.468																																						uc001qsz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1249-1251)GGA>GAA		CD163 antigen isoform a							184.0	156.0	166.0					12																	7647847		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7647847C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1250G>A	12.37:g.7647847C>T	ENSP00000352071:p.Gly417Glu					CD163_uc001qta.3_Missense_Mutation_p.G417E|CD163_uc009zfw.2_Missense_Mutation_p.G417E	p.G417E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			6	1378	-			417			SRCR 4.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1250G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534525	0.85812	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.01	5.01	0.66863	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.258959	0.31772	N	0.007085	T	0.57007	0.2024	L	0.58583	1.82	0.53005	D	0.999962	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.57866	-0.7737	10	0.72032	D	0.01	.	16.2131	0.82185	0.0:1.0:0.0:0.0	.	417;417;417	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	E	417;405;417;417	ENSP00000352071:G417E;ENSP00000444071:G405E;ENSP00000379863:G417E;ENSP00000403885:G417E	ENSP00000352071:G417E	G	-	2	0	CD163	7539114	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.105000	0.77031	2.776000	0.95493	0.650000	0.86243	GGA		0.468	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2		NM_004244, NM_203416		13	96	0	0	0	0.00245	0	13	96		
A2M	2	broad.mit.edu	37	12	9229475	9229475	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:9229475C>G	ENST00000318602.7	-	28	3716	c.3409G>C	c.(3409-3411)Gaa>Caa	p.E1137Q	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1137					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.E1137Q(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGGTCCCCTTCTTGTGCTGTC	0.512																																						uc001qvk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(4)|skin(1)	5						c.(3409-3411)GAA>CAA		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						121.0	123.0	122.0					12																	9229475		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9229475C>G	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3409G>C	12.37:g.9229475C>G	ENSP00000323929:p.Glu1137Gln					A2M_uc001qvj.1_Missense_Mutation_p.E179Q|A2M_uc009zgk.1_Missense_Mutation_p.E987Q	p.E1137Q	NM_000014	NP_000005	P01023	A2MG_HUMAN			28	3522	-			1137					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3409G>C	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	C	2.587	-0.296158	0.05532	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.28255	1.62	5.49	2.17	0.27698	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.740328	0.12830	N	0.435731	T	0.25344	0.0616	L	0.41573	1.285	0.09310	N	1	B	0.28128	0.201	B	0.33799	0.17	T	0.27872	-1.0061	10	0.18710	T	0.47	.	9.6063	0.39634	0.0:0.632:0.0:0.368	.	1137	P01023	A2MG_HUMAN	Q	1137;1152	ENSP00000323929:E1137Q	ENSP00000323929:E1137Q	E	-	1	0	A2M	9120742	0.001000	0.12720	0.021000	0.16686	0.005000	0.04900	0.169000	0.16641	0.678000	0.31325	-0.350000	0.07774	GAA		0.512	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2		NM_000014		12	115	0	0	0	0.001855	0	12	115		
TAS2R8	50836	broad.mit.edu	37	12	10959334	10959334	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:10959334C>T	ENST00000240615.2	-	1	558	c.246G>A	c.(244-246)caG>caA	p.Q82Q		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	82					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.Q82Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATGACTATCTGTTGTTTAT	0.343																																						uc010shh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(244-246)CAG>CAA		taste receptor, type 2, member 8							98.0	96.0	97.0					12																	10959334		2203	4300	6503	SO:0001819	synonymous_variant	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959334C>T	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.246G>A	12.37:g.10959334C>T							p.Q82Q	NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN			1	246	-			82			Extracellular (Potential).		Q4KN29|Q645Y2	Silent	SNP	ENST00000240615.2	37	c.246G>A	CCDS8632.1																																																																																				0.343	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1				10	66	0	0	0	0.006214	0	10	66		
TAS2R42	353164	broad.mit.edu	37	12	11339184	11339184	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:11339184G>A	ENST00000334266.1	-	1	359	c.360C>T	c.(358-360)ctC>ctT	p.L120L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	120					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L120L(1)		breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ACCTCAGCCAGAGGAAAAGGG	0.398																																					Melanoma(15;352 722 10077 19546 48810)	uc001qzr.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(358-360)CTC>CTT		taste receptor, type 2, member 42							70.0	68.0	69.0					12																	11339184		2203	4300	6503	SO:0001819	synonymous_variant	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11339184G>A	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.360C>T	12.37:g.11339184G>A						PRB4_uc001qzf.1_Intron	p.L120L	NM_181429	NP_852094	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	360	-			120			Helical; Name=4; (Potential).		A2RRP4|Q645X0	Silent	SNP	ENST00000334266.1	37	c.360C>T	CCDS31747.1																																																																																				0.398	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1		NM_181429		13	27	0	0	0	0.003163	0	13	27		
HEBP1	50865	broad.mit.edu	37	12	13142262	13142262	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:13142262G>A	ENST00000014930.4	-	2	324	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	HEBP1_ENST00000536942.1_Missense_Mutation_p.R56W	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	56					circadian rhythm (GO:0007623)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	heme binding (GO:0020037)	p.R56W(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		ATTGCTTCCCGTAGAGCCTCA	0.542																																						uc001rbd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(166-168)CGG>TGG		heme binding protein 1							201.0	151.0	168.0					12																	13142262		2203	4300	6503	SO:0001583	missense	50865				circadian rhythm	extracellular region		g.chr12:13142262G>A	AF117615	CCDS31749.1	12p13.2	2014-01-30			ENSG00000013583	ENSG00000013583		"""Endogenous ligands"""	17176	protein-coding gene	gene with protein product		605826				10640688	Standard	NM_015987		Approved	HEBP, HBP	uc001rbd.3	Q9NRV9	OTTHUMG00000168771	ENST00000014930.4:c.166C>T	12.37:g.13142262G>A	ENSP00000014930:p.Arg56Trp					HEBP1_uc001rbf.2_Missense_Mutation_p.R56W	p.R56W	NM_015987	NP_057071	Q9NRV9	HEBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.153)	2	339	-		Prostate(47;0.183)	56					A8K1G2|Q9Y5Z5	Missense_Mutation	SNP	ENST00000014930.4	37	c.166C>T	CCDS31749.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638157	0.67130	.	.	ENSG00000013583	ENST00000014930;ENST00000536942	T;T	0.23754	1.89;1.89	6.02	1.69	0.24217	Regulatory factor, effector, bacterial (1);	0.389996	0.27749	N	0.018006	T	0.41026	0.1141	M	0.62723	1.935	0.19575	N	0.999964	D	0.71674	0.998	D	0.65140	0.932	T	0.14448	-1.0472	10	0.54805	T	0.06	-10.7345	9.6625	0.39962	0.0723:0.0:0.4353:0.4924	.	56	Q9NRV9	HEBP1_HUMAN	W	56	ENSP00000014930:R56W;ENSP00000441678:R56W	ENSP00000014930:R56W	R	-	1	2	HEBP1	13033529	0.642000	0.27260	0.959000	0.39883	0.965000	0.64279	1.080000	0.30779	0.425000	0.26087	0.650000	0.86243	CGG		0.542	HEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401001.1				38	105	0	0	0	0.005524	0	38	105		
SLCO1B3	28234	broad.mit.edu	37	12	21028360	21028360	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:21028360C>G	ENST00000381545.3	+	9	1138	c.919C>G	c.(919-921)Caa>Gaa	p.Q307E	LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.Q307E|LST3_ENST00000540229.1_Missense_Mutation_p.Q307E|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.Q307E	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	307					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.Q307E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGATAGAAATCAAACAGCTAA	0.303																																						uc001rek.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(919-921)CAA>GAA		solute carrier organic anion transporter family,							54.0	54.0	54.0					12																	21028360		2202	4300	6502	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028360C>G		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.919C>G	12.37:g.21028360C>G	ENSP00000370956:p.Gln307Glu					SLCO1B3_uc001rel.2_Missense_Mutation_p.Q307E|SLCO1B3_uc010sil.1_Missense_Mutation_p.Q307E|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.Q132E	p.Q307E	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN			8	1045	+	Esophageal squamous(101;0.149)		307			Cytoplasmic (Potential).		E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.919C>G	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	9.081	0.999345	0.19121	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	3.9	3.0	0.34707	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.866650	0.01582	N	0.021134	T	0.47097	0.1427	L	0.42529	1.33	0.28150	N	0.929449	D;B;B	0.55172	0.97;0.004;0.004	P;B;B	0.53450	0.726;0.017;0.017	T	0.26677	-1.0096	9	.	.	.	.	9.4554	0.38751	0.0:0.8969:0.0:0.1031	.	307;307;307	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	E	307;307;307;131;307	ENSP00000261196:Q307E;ENSP00000370956:Q307E;ENSP00000451758:Q307E;ENSP00000443225:Q131E;ENSP00000441269:Q307E	.	Q	+	1	0	SLCO1B3;RP11-545J16.1	20919627	0.005000	0.15991	0.003000	0.11579	0.013000	0.08279	0.868000	0.27982	0.869000	0.35703	0.454000	0.30748	CAA		0.303	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1		NM_019844		15	58	0	0	0	0.004007	0	15	58		
ERGIC2	51290	broad.mit.edu	37	12	29498381	29498381	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:29498381C>T	ENST00000360150.4	-	11	895	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	274					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)		p.E274K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)					CTTACCCTTTCTGTCACAGAA	0.323																																						uc001riv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(820-822)GAA>AAA		PTX1 protein	Arsenic trioxide(DB01169)						144.0	135.0	138.0					12																	29498381		1796	4068	5864	SO:0001583	missense	51290				vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus		g.chr12:29498381C>T	AF216751	CCDS41765.1	12p11.22	2006-02-08							30208	protein-coding gene	gene with protein product		612236				11445006, 12932305	Standard	NM_016570		Approved	PTX1, Erv41	uc001riv.3	Q96RQ1		ENST00000360150.4:c.820G>A	12.37:g.29498381C>T	ENSP00000353270:p.Glu274Lys					ERGIC2_uc001riw.2_RNA	p.E274K	NM_016570	NP_057654	Q96RQ1	ERGI2_HUMAN			11	953	-	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)		274			Lumenal (Potential).		A6NHH6|Q53GY2|Q8N2Q9|Q9BVV9|Q9NZA3	Missense_Mutation	SNP	ENST00000360150.4	37	c.820G>A	CCDS41765.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.420186|5.420186	0.96111|0.96111	.|.	.|.	ENSG00000087502|ENSG00000087502	ENST00000360150;ENST00000201023|ENST00000548909	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Domain of unknown function DUF1692 (1);|.	0.045596|.	0.85682|.	D|.	0.000000|.	T|T	0.75744|0.75744	0.3891|0.3891	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.65443|.	0.935|.	T|T	0.73503|0.73503	-0.3962|-0.3962	9|5	0.41790|.	T|.	0.15|.	.|.	18.0409|18.0409	0.89318|0.89318	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	274|.	Q96RQ1|.	ERGI2_HUMAN|.	K|K	274;282|83	.|.	ENSP00000201023:E282K|.	E|R	-|-	1|2	0|0	ERGIC2|ERGIC2	29389648|29389648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.698000|7.698000	0.84413|0.84413	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.323	ERGIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403489.1		NM_016570		19	114	0	0	0	0.010504	0	19	114		
KIF21A	55605	broad.mit.edu	37	12	39726896	39726896	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:39726896C>T	ENST00000361418.5	-	19	2516	c.2501G>A	c.(2500-2502)cGt>cAt	p.R834H	KIF21A_ENST00000361961.3_Missense_Mutation_p.R821H|KIF21A_ENST00000395670.3_Missense_Mutation_p.R834H|KIF21A_ENST00000544797.2_Missense_Mutation_p.R821H|KIF21A_ENST00000541463.2_Missense_Mutation_p.R798H			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	834					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R821H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TACTTGCCGACGAAGAGCCGT	0.443																																						uc001rly.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(2500-2502)CGT>CAT		kinesin family member 21A							122.0	117.0	119.0					12																	39726896		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726896C>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2501G>A	12.37:g.39726896C>T	ENSP00000354878:p.Arg834His					KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R151H|KIF21A_uc001rlx.2_Missense_Mutation_p.R821H|KIF21A_uc001rlz.2_Missense_Mutation_p.R798H|KIF21A_uc010skl.1_Missense_Mutation_p.R821H	p.R834H	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			19	2647	-		Lung NSC(34;0.179)|all_lung(34;0.213)	834					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2501G>A	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.986630|4.986630	0.93106|0.93106	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T|.	0.74002|.	1.97;1.97;1.97;1.97;-0.8|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.50627|.	D|.	0.000102|.	T|T	0.79009|0.79009	0.4374|0.4374	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.71674|.	0.988;0.938;0.998;0.975;0.996|.	P;P;P;P;D|.	0.66084|.	0.799;0.591;0.902;0.681;0.941|.	T|T	0.79598|0.79598	-0.1737|-0.1737	10|5	0.87932|.	D|.	0|.	.|.	19.1305|19.1305	0.93404|0.93404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	821;798;834;821;834|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3|.	.;.;KI21A_HUMAN;.;.|.	H|I	821;834;834;821;834;798|182	ENSP00000354851:R821H;ENSP00000379029:R834H;ENSP00000445606:R821H;ENSP00000354878:R834H;ENSP00000438075:R798H|.	ENSP00000344501:R834H|.	R|V	-|-	2|1	0|0	KIF21A|KIF21A	38013163|38013163	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.991000|0.991000	0.79684|0.79684	6.873000|6.873000	0.75541|0.75541	2.531000|2.531000	0.85337|0.85337	0.557000|0.557000	0.71058|0.71058	CGT|GTC		0.443	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		6	96	0	0	0	0.001168	0	6	96		
LETMD1	25875	broad.mit.edu	37	12	51449628	51449628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:51449628C>T	ENST00000262055.4	+	5	523	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	LETMD1_ENST00000380123.2_Silent_p.F95F|LETMD1_ENST00000418425.2_Missense_Mutation_p.P175S|LETMD1_ENST00000550929.1_Missense_Mutation_p.P106S|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Missense_Mutation_p.P45S	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	162	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)		p.P162S(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTACCTGTTTCCCAGGCAACT	0.418																																						uc001rxm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(484-486)CCC>TCC		LETM1 domain containing 1 isoform 1							93.0	89.0	90.0					12																	51449628		2203	4300	6503	SO:0001583	missense	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51449628C>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.484C>T	12.37:g.51449628C>T	ENSP00000262055:p.Pro162Ser					LETMD1_uc010smz.1_Missense_Mutation_p.P112S|LETMD1_uc010sna.1_Intron|LETMD1_uc001rxl.2_Missense_Mutation_p.P106S|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Missense_Mutation_p.P175S|LETMD1_uc001rxn.2_Missense_Mutation_p.P5S|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Missense_Mutation_p.P45S|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron	p.P162S	NM_015416	NP_056231	Q6P1Q0	LTMD1_HUMAN			5	540	+			162			Mitochondrial intermembrane (Potential).|LETM1.		A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	ENST00000262055.4	37	c.484C>T	CCDS8806.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393813	0.83011	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000549340;ENST00000418425;ENST00000448283;ENST00000552739	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.08	5.08	0.68730	LETM1-like (1);	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;1.0	D;D;D;D	0.97110	0.998;1.0;0.951;1.0	D	0.87925	0.2706	10	0.87932	D	0	-14.8694	17.7887	0.88546	0.0:1.0:0.0:0.0	.	112;175;45;162	F8VVQ3;B3KXK7;F8VP71;Q6P1Q0	.;.;.;LTMD1_HUMAN	S	129;68;106;162;112;175;112;45	ENSP00000446862:P129S;ENSP00000450163:P106S;ENSP00000262055:P162S;ENSP00000449896:P112S;ENSP00000389903:P175S;ENSP00000450333:P45S	ENSP00000262055:P162S	P	+	1	0	LETMD1	49735895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.750000	0.68712	2.826000	0.97356	0.655000	0.94253	CCC		0.418	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1		NM_015416		27	59	0	0	0	0.007291	0	27	59		
PRR13	54458	broad.mit.edu	37	12	53839821	53839821	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:53839821C>T	ENST00000429243.2	+	4	633	c.425C>T	c.(424-426)tCt>tTt	p.S142F	PRR13_ENST00000547368.1_Missense_Mutation_p.S156F|PCBP2_ENST00000541275.1_Intron|PRR13_ENST00000379786.4_Missense_Mutation_p.S92F|PRR13_ENST00000546581.1_Missense_Mutation_p.S46F|RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000549135.1_Missense_Mutation_p.S142F|PRR13_ENST00000551003.1_Missense_Mutation_p.S110F|PRR13_ENST00000549924.1_Missense_Mutation_p.S142F|PRR13_ENST00000549581.1_Missense_Mutation_p.S92F|PRR13_ENST00000549068.1_3'UTR	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	142	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S92F(1)|p.S142F(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						TCCTCCTCCTCTTCCAGCAGT	0.512																																						uc001scz.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(424-426)TCT>TTT		proline rich 13 isoform 1							315.0	297.0	303.0					12																	53839821		2203	4300	6503	SO:0001583	missense	54458				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr12:53839821C>T	AF217517	CCDS31811.1, CCDS44899.1	12q13.13	2014-05-28			ENSG00000205352	ENSG00000205352			24528	protein-coding gene	gene with protein product		610459				11230166	Standard	NM_018457		Approved	FLJ23818, DKFZP564J157	uc001scz.4	Q9NZ81	OTTHUMG00000170049	ENST00000429243.2:c.425C>T	12.37:g.53839821C>T	ENSP00000412064:p.Ser142Phe					PRR13_uc001scy.3_Missense_Mutation_p.S92F|PCBP2_uc010soh.1_Intron|PRR13_uc001sda.3_Missense_Mutation_p.S142F	p.S142F	NM_018457	NP_060927	Q9NZ81	PRR13_HUMAN			4	589	+			142			Ser-rich.		Q0V8U0|Q6FIG7|Q6MZP8|Q6NXQ6|Q6PKF9	Missense_Mutation	SNP	ENST00000429243.2	37	c.425C>T	CCDS44899.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910863	0.33721	.	.	ENSG00000205352	ENST00000429243;ENST00000549924;ENST00000551003;ENST00000546581;ENST00000549581;ENST00000547368;ENST00000379786;ENST00000549135	.	.	.	3.82	3.82	0.43975	.	0.000000	0.35677	N	0.003058	T	0.77772	0.4180	M	0.82056	2.57	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.991	T	0.80618	-0.1302	9	0.72032	D	0.01	-11.9745	11.424	0.49998	0.0:1.0:0.0:0.0	.	142;92	Q9NZ81;Q9NZ81-2	PRR13_HUMAN;.	F	142;142;110;46;92;156;92;142	.	ENSP00000369112:S92F	S	+	2	0	PRR13	52126088	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.923000	0.40055	2.117000	0.64856	0.655000	0.94253	TCT		0.512	PRR13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407055.1		NM_018457		32	64	0	0	0	0.002836	0	32	64		
NPFF	8620	broad.mit.edu	37	12	53900619	53900619	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:53900619C>G	ENST00000267017.3	-	3	446	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	NPFF_ENST00000609999.1_Missense_Mutation_p.E98Q|RP11-793H13.10_ENST00000591834.1_3'UTR	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	95					acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)	p.E95Q(1)		haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TTCAGCCCCTCTCCAGCCCGG	0.552																																						uc001sdw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(283-285)GAG>CAG		neuropeptide FF-amide peptide preproprotein							113.0	113.0	113.0					12																	53900619		2203	4300	6503	SO:0001583	missense	8620				neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr12:53900619C>G	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856	ENST00000267017.3:c.283G>C	12.37:g.53900619C>G	ENSP00000267017:p.Glu95Gln						p.E95Q	NM_003717	NP_003708	O15130	NPFF_HUMAN			3	447	-			95					Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.283G>C	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967430	0.34754	.	.	ENSG00000139574	ENST00000267017	T	0.54279	0.58	4.52	-0.906	0.10524	.	0.157646	0.39407	N	0.001371	T	0.42810	0.1219	M	0.63843	1.955	0.09310	N	1	B	0.20671	0.047	B	0.18561	0.022	T	0.38045	-0.9679	10	0.62326	D	0.03	-0.6973	6.0543	0.19802	0.0:0.3776:0.3863:0.2361	.	95	O15130	NPFF_HUMAN	Q	95	ENSP00000267017:E95Q	ENSP00000267017:E95Q	E	-	1	0	NPFF	52186886	0.228000	0.23718	0.000000	0.03702	0.992000	0.81027	2.266000	0.43320	-0.270000	0.09285	0.491000	0.48974	GAG		0.552	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1		NM_003717		25	124	0	0	0	0.00632	0	25	124		
HOXC4	3221	broad.mit.edu	37	12	54448006	54448006	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:54448006G>A	ENST00000430889.2	+	1	346	c.300G>A	c.(298-300)ccG>ccA	p.P100P	HOXC4_ENST00000609810.1_Silent_p.P100P|HOXC4_ENST00000303406.4_Silent_p.P100P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	100					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P100P(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TCTGCGAGCCGGCGCCTCTCT	0.731																																						uc001seu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(298-300)CCG>CCA		homeobox C4							12.0	16.0	15.0					12																	54448006		2180	4268	6448	SO:0001819	synonymous_variant	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448006G>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.300G>A	12.37:g.54448006G>A						HOXC4_uc001sex.2_Silent_p.P100P	p.P100P	NM_014620	NP_055435	P09017	HXC4_HUMAN			3	980	+			100						Silent	SNP	ENST00000430889.2	37	c.300G>A	CCDS8873.1																																																																																				0.731	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1				5	24	0	0	0	0.000602	0	5	24		
FRS2	10818	broad.mit.edu	37	12	69964277	69964277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:69964277G>A	ENST00000550389.1	+	4	479	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	FRS2_ENST00000299293.2_Missense_Mutation_p.R78Q|FRS2_ENST00000549921.1_Missense_Mutation_p.R78Q|FRS2_ENST00000397997.2_Missense_Mutation_p.R78Q	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	78	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R78Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAAAGTGGTCGAAGGTGTCAA	0.363																																						uc001suy.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	prostate(1)|kidney(1)	2						c.(232-234)CGA>CAA		fibroblast growth factor receptor substrate 2							97.0	87.0	90.0					12																	69964277		1896	4105	6001	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69964277G>A	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.233G>A	12.37:g.69964277G>A	ENSP00000447241:p.Arg78Gln					FRS2_uc001suz.2_Missense_Mutation_p.R78Q|FRS2_uc009zrj.2_Missense_Mutation_p.R78Q|FRS2_uc009zrk.2_Missense_Mutation_p.R78Q	p.R78Q	NM_006654	NP_006645	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		7	743	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		78			IRS-type PTB.		B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.233G>A	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	G	37	6.032369	0.97221	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000550937;ENST00000397997;ENST00000551325	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.65	5.65	0.86999	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.91561	3.22	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.94789	0.7960	9	.	.	.	-13.7787	19.7056	0.96070	0.0:0.0:1.0:0.0	.	78	Q8WU20	FRS2_HUMAN	Q	78	ENSP00000299293:R78Q;ENSP00000450048:R78Q;ENSP00000447241:R78Q;ENSP00000447804:R78Q;ENSP00000381083:R78Q;ENSP00000449432:R78Q	.	R	+	2	0	FRS2	68250544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.808000	0.99193	2.659000	0.90383	0.462000	0.41574	CGA		0.363	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1		NM_006654		12	41	0	0	0	0.010729	0	12	41		
PLXNC1	10154	broad.mit.edu	37	12	94691157	94691157	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:94691157C>G	ENST00000258526.4	+	26	4281	c.4032C>G	c.(4030-4032)ttC>ttG	p.F1344L	PLXNC1_ENST00000545312.1_Missense_Mutation_p.F83L|PLXNC1_ENST00000547057.1_Missense_Mutation_p.F391L	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1344					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.F1344L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCACAAGTTCAAAGTAAAAG	0.448																																						uc001tdc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(4030-4032)TTC>TTG		plexin C1 precursor							100.0	89.0	93.0					12																	94691157		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94691157C>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4032C>G	12.37:g.94691157C>G	ENSP00000258526:p.Phe1344Leu					PLXNC1_uc010sut.1_Missense_Mutation_p.F391L|PLXNC1_uc009zsv.2_Missense_Mutation_p.F83L	p.F1344L	NM_005761	NP_005752	O60486	PLXC1_HUMAN			26	4281	+			1344			Cytoplasmic (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.4032C>G	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410082	0.25465	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11063	2.81;2.81;2.81	5.03	4.01	0.46588	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.055693	0.85682	D	0.000000	T	0.06508	0.0167	N	0.12182	0.205	0.49798	D	0.999828	B;B	0.34329	0.012;0.449	B;B	0.43658	0.012;0.426	T	0.31943	-0.9925	10	0.02654	T	1	.	6.8051	0.23772	0.0:0.7163:0.0:0.2837	.	391;1344	B4DHQ7;O60486	.;PLXC1_HUMAN	L	1344;391;83	ENSP00000258526:F1344L;ENSP00000446720:F391L;ENSP00000439225:F83L	ENSP00000258526:F1344L	F	+	3	2	PLXNC1	93215288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.773000	0.26661	2.337000	0.79520	0.462000	0.41574	TTC		0.448	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2				5	27	0	0	0	0.000602	0	5	27		
UTP20	27340	broad.mit.edu	37	12	101767492	101767492	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:101767492G>A	ENST00000261637.4	+	54	7252	c.7078G>A	c.(7078-7080)Gag>Aag	p.E2360K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2360					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.E2360K(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AATCAGCCTCGAGAAAAAAGA	0.418																																						uc001tia.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)	4						c.(7078-7080)GAG>AAG		down-regulated in metastasis							84.0	71.0	76.0					12																	101767492		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101767492G>A	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7078G>A	12.37:g.101767492G>A	ENSP00000261637:p.Glu2360Lys						p.E2360K	NM_014503	NP_055318	O75691	UTP20_HUMAN			54	7234	+			2360					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7078G>A	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813489	0.50527	.	.	ENSG00000120800	ENST00000261637	T	0.66815	-0.23	5.96	5.96	0.96718	Armadillo-type fold (1);	0.252708	0.43747	D	0.000540	T	0.56441	0.1985	L	0.47716	1.5	0.38619	D	0.951088	B	0.33103	0.397	B	0.19391	0.025	T	0.56739	-0.7929	10	0.22109	T	0.4	-23.0381	15.8352	0.78793	0.0:0.135:0.865:0.0	.	2360	O75691	UTP20_HUMAN	K	2360	ENSP00000261637:E2360K	ENSP00000261637:E2360K	E	+	1	0	UTP20	100291623	0.997000	0.39634	0.995000	0.50966	0.945000	0.59286	2.574000	0.46016	2.826000	0.97356	0.655000	0.94253	GAG		0.418	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1		NM_014503		9	57	0	0	0	0.008291	0	9	57		
TXNRD1	7296	broad.mit.edu	37	12	104725378	104725378	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:104725378G>A	ENST00000529546.1	+	11	1270	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	TXNRD1_ENST00000378070.4_Missense_Mutation_p.E486K|TXNRD1_ENST00000542918.1_Missense_Mutation_p.E437K|TXNRD1_ENST00000540716.1_Missense_Mutation_p.E349K|TXNRD1_ENST00000503506.2_Missense_Mutation_p.E387K|TXNRD1_ENST00000429002.2_Missense_Mutation_p.E537K|TXNRD1_ENST00000388854.3_Missense_Mutation_p.E439K|TXNRD1_ENST00000526691.1_Missense_Mutation_p.E439K|TXNRD1_ENST00000397736.2_Missense_Mutation_p.E431K|TXNRD1_ENST00000526390.1_Missense_Mutation_p.E431K|TXNRD1_ENST00000525566.1_Missense_Mutation_p.E537K|TXNRD1_ENST00000526950.1_Missense_Mutation_p.E456K|TXNRD1_ENST00000524698.1_Missense_Mutation_p.E387K|TXNRD1_ENST00000427956.1_Missense_Mutation_p.E502K|TXNRD1_ENST00000354940.6_Missense_Mutation_p.E387K			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	537					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.E537Q(2)|p.E387Q(2)|p.E537K(1)|p.E387K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	TGGCCTTTCTGAGGAGAAAGC	0.353																																					Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1		NaN																	6	Substitution - Missense(6)		urinary_tract(2)|cervix(2)|endometrium(2)		0						c.(1609-1611)GAG>AAG		thioredoxin reductase 1 isoform 3							69.0	64.0	66.0					12																	104725378		1826	4081	5907	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104725378G>A		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1045G>A	12.37:g.104725378G>A	ENSP00000434919:p.Glu349Lys					TXNRD1_uc010swl.1_Missense_Mutation_p.E387K|TXNRD1_uc010swm.1_Missense_Mutation_p.E439K|TXNRD1_uc010swn.1_Missense_Mutation_p.E387K|TXNRD1_uc010swo.1_Missense_Mutation_p.E387K|TXNRD1_uc010swp.1_Missense_Mutation_p.E349K|TXNRD1_uc010swq.1_Missense_Mutation_p.E437K|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.E453K	p.E537K	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			14	1631	+			537					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000529546.1	37	c.1609G>A	CCDS58274.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605413	0.96626	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.67	5.67	0.87782	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	H	0.98426	4.23	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.998;0.999;0.999;0.999	D	0.99260	1.0890	10	0.87932	D	0	-33.965	19.8349	0.96652	0.0:0.0:1.0:0.0	.	437;431;537;439;387;537;502	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	K	537;537;387;439;439;387;431;349;349;387;437;486;431;502;456	ENSP00000434516:E537K;ENSP00000412045:E537K;ENSP00000421934:E387K;ENSP00000435929:E439K;ENSP00000373506:E439K;ENSP00000347020:E387K;ENSP00000435123:E431K;ENSP00000434919:E349K;ENSP00000442709:E349K;ENSP00000433425:E387K;ENSP00000440978:E437K;ENSP00000367310:E486K;ENSP00000380844:E431K;ENSP00000393328:E502K;ENSP00000432812:E456K	ENSP00000347020:E387K	E	+	1	0	TXNRD1	103249508	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.532000	0.98057	2.693000	0.91896	0.650000	0.86243	GAG		0.353	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1		NM_003330		5	23	0	0	0	0.00308	0	5	23		
APPL2	55198	broad.mit.edu	37	12	105600843	105600843	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:105600843C>T	ENST00000258530.3	-	8	842	c.617G>A	c.(616-618)gGa>gAa	p.G206E	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.G163E|APPL2_ENST00000551662.1_Missense_Mutation_p.G212E	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.G206E(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCCTACCTGTCCATGGGCAAA	0.557																																						uc001tlf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(616-618)GGA>GAA		adaptor protein, phosphotyrosine interaction, PH							93.0	73.0	80.0					12																	105600843		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105600843C>T	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.617G>A	12.37:g.105600843C>T	ENSP00000258530:p.Gly206Glu					APPL2_uc010swt.1_Missense_Mutation_p.G163E|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.G212E|APPL2_uc009zuq.2_Missense_Mutation_p.G163E	p.G206E	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			8	835	-			206			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.617G>A	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061395	0.55432	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.04194	3.68;3.68;3.68	6.17	4.24	0.50183	.	0.105585	0.64402	D	0.000003	T	0.08358	0.0208	L	0.57536	1.79	0.48511	D	0.999664	B;B;B	0.19935	0.04;0.011;0.004	B;B;B	0.17722	0.019;0.006;0.005	T	0.09400	-1.0676	10	0.54805	T	0.06	-20.3848	16.8221	0.85835	0.0:0.65:0.35:0.0	.	212;163;206	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	E	206;163;212	ENSP00000258530:G206E;ENSP00000444472:G163E;ENSP00000446917:G212E	ENSP00000258530:G206E	G	-	2	0	APPL2	104124973	1.000000	0.71417	0.975000	0.42487	0.867000	0.49689	2.834000	0.48167	1.604000	0.50143	0.655000	0.94253	GGA		0.557	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3		NM_018171		14	49	0	0	0	0.00245	0	14	49		
APPL2	55198	broad.mit.edu	37	12	105601808	105601808	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:105601808C>G	ENST00000551662.1	-	7	503	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	APPL2_ENST00000549573.1_5'Flank|APPL2_ENST00000258530.3_Splice_Site|APPL2_ENST00000539978.2_Splice_Site			Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AGGTCATGCTCTAAAAATAAA	0.443																																						uc001tlf.1		NaN																	1	Unknown(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.e7-1		adaptor protein, phosphotyrosine interaction, PH							127.0	132.0	130.0					12																	105601808		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105601808C>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000551662.1:c.433G>C	12.37:g.105601808C>G	ENSP00000446917:p.Glu145Gln					APPL2_uc010swt.1_Splice_Site_p.E96_splice|APPL2_uc001tlg.1_Splice_Site|APPL2_uc010swu.1_Missense_Mutation_p.E145Q|APPL2_uc009zuq.2_Splice_Site_p.E96_splice	p.E139_splice	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			7	634	-								B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Splice_Site	SNP	ENST00000551662.1	37	c.416_splice	CCDS58276.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.96|19.96	3.924005|3.924005	0.73213|0.73213	.|.	.|.	ENSG00000136044|ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000553097|ENST00000551662	.|T	.|0.16457	.|2.34	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	.|T	.|0.41511	.|0.1162	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.62014	.|0.897	.|T	.|0.04593	.|-1.0940	.|7	.|.	.|.	.|.	.|.	19.9729|19.9729	0.97289|0.97289	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|145	.|F8W1P5	.|.	.|Q	-1|145	.|ENSP00000446917:E145Q	.|.	.|E	-|-	.|1	.|0	APPL2|APPL2	104125938|104125938	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.906000|0.906000	0.53458|0.53458	7.161000|7.161000	0.77505|0.77505	2.716000|2.716000	0.92895|0.92895	0.650000|0.650000	0.86243|0.86243	.|GAG		0.443	APPL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406240.1		NM_018171		27	153	0	0	0	0.005443	0	27	153		
TCP11L2	255394	broad.mit.edu	37	12	106740129	106740129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:106740129C>T	ENST00000299045.3	+	10	1555	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	461								p.P461S(1)		endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ATGCATGCCTCCTATGCCAGG	0.418																																						uc001tln.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1381-1383)CCT>TCT		t-complex 11 (mouse) like 2							64.0	58.0	60.0					12																	106740129		2203	4300	6503	SO:0001583	missense	255394							g.chr12:106740129C>T	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.1381C>T	12.37:g.106740129C>T	ENSP00000299045:p.Pro461Ser						p.P461S	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN			10	1555	+			461					B2RA65|G3V1Y9	Missense_Mutation	SNP	ENST00000299045.3	37	c.1381C>T	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969753	0.34754	.	.	ENSG00000166046	ENST00000299045	T	0.11495	2.77	5.69	4.8	0.61643	.	0.228797	0.44902	D	0.000418	T	0.14874	0.0359	M	0.75615	2.305	0.53005	D	0.999968	B	0.26318	0.146	B	0.33254	0.16	T	0.03354	-1.1045	10	0.09338	T	0.73	-0.1866	11.2807	0.49192	0.137:0.626:0.237:0.0	.	461	Q8N4U5	T11L2_HUMAN	S	461	ENSP00000299045:P461S	ENSP00000299045:P461S	P	+	1	0	TCP11L2	105264259	0.954000	0.32549	0.840000	0.33206	0.955000	0.61496	0.958000	0.29227	1.404000	0.46819	0.655000	0.94253	CCT		0.418	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1		NM_152772		8	49	0	0	0	0.006214	0	8	49		
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	C	T	rs568917673		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:106820987C>T	ENST00000228347.4	+	13	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	372					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L372F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274																																						uc001tlp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	ovary(1)|central_nervous_system(1)	2						c.(1114-1116)CTT>TTT		DNA-directed RNA polymerase III B isoform 1																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820987C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1114C>T	12.37:g.106820987C>T	ENSP00000228347:p.Leu372Phe					POLR3B_uc001tlq.2_Missense_Mutation_p.L314F	p.L372F	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			13	1336	+			372					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1114C>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105377	0.77096	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;T	0.79554	-0.26;-0.26;-1.28	5.62	4.73	0.59995	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.90157	0.6924	H	0.96142	3.775	0.80722	D	1	B	0.33964	0.434	P	0.47134	0.539	D	0.91279	0.5050	10	0.87932	D	0	-18.4128	11.6653	0.51370	0.0:0.8574:0.0:0.1426	.	372	Q9NW08	RPC2_HUMAN	F	372;372;314;130;35	ENSP00000228347:L372F;ENSP00000445721:L314F;ENSP00000448398:L130F	ENSP00000228347:L372F	L	+	1	0	POLR3B	105345117	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.535000	0.53575	1.506000	0.48736	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082		8	16	0	0	0	0.00308	0	8	16		
RIC8B	55188	broad.mit.edu	37	12	107208957	107208957	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:107208957G>A	ENST00000392839.2	+	3	722	c.616G>A	c.(616-618)Gat>Aat	p.D206N	RIC8B_ENST00000392837.4_Missense_Mutation_p.D206N|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000355478.2_Missense_Mutation_p.D166N	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	206					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.D206N(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAAGTGGACCGATGAGTATGA	0.507																																						uc001tlx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(616-618)GAT>AAT		resistance to inhibitors of cholinesterase 8							149.0	131.0	137.0					12																	107208957		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107208957G>A	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.616G>A	12.37:g.107208957G>A	ENSP00000376583:p.Asp206Asn					RIC8B_uc001tlw.2_Missense_Mutation_p.D206N|RIC8B_uc001tly.2_Missense_Mutation_p.D166N|RIC8B_uc001tlz.2_RNA	p.D206N	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			3	741	+			206					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.616G>A	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145838	0.77888	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	T;T;T	0.49720	0.77;0.77;0.77	5.91	5.91	0.95273	Armadillo-type fold (1);	0.089393	0.85682	D	0.000000	T	0.42268	0.1195	N	0.25890	0.77	0.80722	D	1	P;D;D	0.54601	0.948;0.958;0.967	B;B;P	0.46253	0.301;0.427;0.509	T	0.11036	-1.0604	10	0.13470	T	0.59	-8.5085	20.2963	0.98556	0.0:0.0:1.0:0.0	.	166;206;206	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	N	206;206;166	ENSP00000376582:D206N;ENSP00000376583:D206N;ENSP00000347662:D166N	ENSP00000347662:D166N	D	+	1	0	RIC8B	105733087	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.187000	0.94912	2.813000	0.96785	0.655000	0.94253	GAT		0.507	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2		NM_018157		18	88	0	0	0	0.006122	0	18	88		
ACAD10	80724	broad.mit.edu	37	12	112194215	112194215	+	Missense_Mutation	SNP	G	G	A	rs142030532	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112194215G>A	ENST00000313698.4	+	21	3273	c.3118G>A	c.(3118-3120)Gac>Aac	p.D1040N	RP11-162P23.2_ENST00000546840.2_Intron|ACAD10_ENST00000455480.2_Missense_Mutation_p.D1071N	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	1040						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.D1040N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCGCTTTGCCGACGGCCCTGA	0.647													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		17267	0.0		0.002	False		,,,				2504	0.0					uc001tsq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3118-3120)GAC>AAC		acyl-Coenzyme A dehydrogenase family, member 10		G	ASN/ASP,ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	35.0	34.0	34.0		3211,3118	5.7	0.2	12	dbSNP_134	34	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	ACAD10	NM_001136538.1,NM_025247.5	23,23	0,7,6495	AA,AG,GG		0.0582,0.0454,0.0538	probably-damaging,probably-damaging	1071/1091,1040/1060	112194215	7,12997	2203	4299	6502	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112194215G>A	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.3118G>A	12.37:g.112194215G>A	ENSP00000325137:p.Asp1040Asn					ACAD10_uc009zvx.2_Missense_Mutation_p.D1071N|ACAD10_uc001tss.1_Intron	p.D1040N	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			21	3318	+			1040					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.3118G>A	CCDS31903.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	24.8	4.568288	0.86439	4.54E-4	5.82E-4	ENSG00000111271	ENST00000455480;ENST00000313698	D;D	0.96168	-3.93;-3.93	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.979	D	0.99537	1.0962	10	0.87932	D	0	.	18.5671	0.91120	0.0:0.0:1.0:0.0	.	1071;1040	G3XAJ0;Q6JQN1	.;ACD10_HUMAN	N	1071;1040	ENSP00000389813:D1071N;ENSP00000325137:D1040N	ENSP00000325137:D1040N	D	+	1	0	ACAD10	110678598	1.000000	0.71417	0.239000	0.24122	0.637000	0.38172	5.218000	0.65257	2.684000	0.91462	0.462000	0.41574	GAC		0.647	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1		NM_025247		9	32	0	0	0	0.004482	0	9	32		
NAA25	80018	broad.mit.edu	37	12	112477060	112477060	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112477060C>A	ENST00000261745.4	-	22	2870	c.2622G>T	c.(2620-2622)aaG>aaT	p.K874N	MIR3657_ENST00000584818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	874	Poly-Lys.					cytoplasm (GO:0005737)		p.K874N(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTTTTTTCTTCTTTTTCTTTT	0.343																																						uc001ttm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(2620-2622)AAG>AAT		mitochondrial distribution and morphology 20							200.0	181.0	188.0					12																	112477060		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112477060C>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2622G>T	12.37:g.112477060C>A	ENSP00000261745:p.Lys874Asn					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.K846N|NAA25_uc009zwa.1_Missense_Mutation_p.K852N	p.K874N	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			22	2642	-			874			Poly-Lys.		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.2622G>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626557	0.66901	.	.	ENSG00000111300	ENST00000261745	T	0.33654	1.4	5.69	5.69	0.88448	.	0.240009	0.43260	D	0.000585	T	0.31765	0.0807	L	0.32530	0.975	0.51233	D	0.999916	P;P	0.43750	0.816;0.608	B;B	0.37943	0.261;0.261	T	0.14587	-1.0467	10	0.72032	D	0.01	-9.8839	18.7963	0.91995	0.0:1.0:0.0:0.0	.	874;874	A8K8X0;Q14CX7	.;NAA25_HUMAN	N	874	ENSP00000261745:K874N	ENSP00000261745:K874N	K	-	3	2	NAA25	110961443	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.657000	0.61490	2.690000	0.91761	0.585000	0.79938	AAG		0.343	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1		NM_024953		13	47	1	0	1.5842e-08	0.001855	1.67396e-08	13	47		
HECTD4	283450	broad.mit.edu	37	12	112609068	112609068	+	Splice_Site	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:112609068C>T	ENST00000430131.2	-	67	11665		c.e67-1		HECTD4_ENST00000377560.5_Splice_Site|HECTD4_ENST00000550722.1_Splice_Site			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)									ATGGGCACGTCTGAGGGCGCA	0.622																																						uc009zwc.2		NaN																	2	Unknown(2)		urinary_tract(2)	ovary(1)|lung(1)	2						c.e61-1		chromosome 12 open reading frame 51							36.0	42.0	40.0					12																	112609068		2168	4263	6431	SO:0001630	splice_region_variant	283450							g.chr12:112609068C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10520-1G>A	12.37:g.112609068C>T							p.N3507_splice	NM_001109662	NP_001103132					61	10538	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Splice_Site	SNP	ENST00000430131.2	37	c.10520_splice		.	.	.	.	.	.	.	.	.	.	C	19.25	3.791188	0.70452	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2204	0.93795	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf51	111093451	1.000000	0.71417	0.586000	0.28679	0.331000	0.28603	5.655000	0.67981	2.608000	0.88229	0.563000	0.77884	.		0.622	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	Intron	5	9	0	0	0	0.001168	0	5	9		
MED13L	23389	broad.mit.edu	37	12	116420239	116420239	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:116420239C>T	ENST00000281928.3	-	22	5331	c.5125G>A	c.(5125-5127)Gaa>Aaa	p.E1709K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1709						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E1709K(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCAGCATTTCTGTGTAGCAG	0.403																																						uc001tvw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(5125-5127)GAA>AAA		mediator complex subunit 13-like							100.0	94.0	96.0					12																	116420239		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116420239C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5125G>A	12.37:g.116420239C>T	ENSP00000281928:p.Glu1709Lys						p.E1709K	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	22	5180	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1709					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5125G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.694313	0.96793	.	.	ENSG00000123066	ENST00000281928;ENST00000552340	D;D	0.81996	-1.56;-1.56	5.87	5.87	0.94306	.	0.045372	0.85682	D	0.000000	D	0.88698	0.6507	M	0.73598	2.24	0.80722	D	1	D	0.56968	0.978	P	0.53809	0.735	D	0.87089	0.2171	10	0.38643	T	0.18	.	20.2147	0.98293	0.0:1.0:0.0:0.0	.	1709	Q71F56	MD13L_HUMAN	K	1709;53	ENSP00000281928:E1709K;ENSP00000449876:E53K	ENSP00000281928:E1709K	E	-	1	0	MED13L	114904622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.785000	0.95823	0.591000	0.81541	GAA		0.403	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3				23	99	0	0	0	0.003954	0	23	99		
WDR66	144406	broad.mit.edu	37	12	122398579	122398579	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:122398579G>A	ENST00000288912.4	+	14	3076	c.2222G>A	c.(2221-2223)cGc>cAc	p.R741H	WDR66_ENST00000397454.2_Missense_Mutation_p.R741H	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	741							calcium ion binding (GO:0005509)	p.R741H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CGCTCTCATCGCAAAAGCATT	0.488																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2221-2223)CGC>CAC		WD repeat domain 66							136.0	133.0	134.0					12																	122398579		1944	4149	6093	SO:0001583	missense	144406						calcium ion binding	g.chr12:122398579G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2222G>A	12.37:g.122398579G>A	ENSP00000288912:p.Arg741His						p.R741H	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	14	2364	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		741					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.2222G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501900	0.26949	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.63417	1.04;-0.04	4.82	0.629	0.17687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.569850	0.18570	N	0.137368	T	0.28632	0.0709	N	0.03050	-0.425	0.21355	N	0.999718	B	0.12630	0.006	B	0.04013	0.001	T	0.15178	-1.0446	10	0.18710	T	0.47	.	4.8804	0.13677	0.4126:0.1541:0.4333:0.0	.	741	Q8TBY9	WDR66_HUMAN	H	741	ENSP00000288912:R741H;ENSP00000380595:R741H	ENSP00000288912:R741H	R	+	2	0	WDR66	120882962	1.000000	0.71417	0.993000	0.49108	0.948000	0.59901	2.711000	0.47177	0.542000	0.28846	-0.136000	0.14681	CGC		0.488	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1		NM_144668		8	100	0	0	0	0.004482	0	8	100		
GTF2H3	2967	broad.mit.edu	37	12	124132646	124132646	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:124132646G>A	ENST00000543341.2	+	4	368	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	GTF2H3_ENST00000228955.7_Missense_Mutation_p.E72K	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	113					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)	p.E113K(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		AGTTATTGTTGAAGAGATTAA	0.353								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)	uc001ufo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(337-339)GAA>AAA	NER	general transcription factor IIH, polypeptide 3,							55.0	57.0	57.0					12																	124132646		2203	4300	6503	SO:0001583	missense	2967				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding	g.chr12:124132646G>A	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.337G>A	12.37:g.124132646G>A	ENSP00000445162:p.Glu113Lys					GTF2H3_uc010tau.1_Missense_Mutation_p.E72K	p.E113K	NM_001516	NP_001507	Q13889	TF2H3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)	4	363	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		113					B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	ENST00000543341.2	37	c.337G>A	CCDS9252.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.627723	0.66901	.	.	ENSG00000111358	ENST00000539994;ENST00000538845;ENST00000228955;ENST00000543341;ENST00000536375;ENST00000538533;ENST00000542231;ENST00000543154	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	N	0.22421	0.69	0.58432	D	0.999999	P	0.47034	0.889	P	0.50896	0.653	T	0.62478	-0.6846	9	0.87932	D	0	.	19.3778	0.94518	0.0:0.0:1.0:0.0	.	113	Q13889	TF2H3_HUMAN	K	103;128;72;113;113;72;63;17	.	ENSP00000228955:E72K	E	+	1	0	GTF2H3	122698599	1.000000	0.71417	0.873000	0.34254	0.647000	0.38526	7.639000	0.83342	2.758000	0.94735	0.460000	0.39030	GAA		0.353	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400641.2		NM_001516		13	69	0	0	0	0.001855	0	13	69		
ULK1	8408	broad.mit.edu	37	12	132380333	132380333	+	Silent	SNP	G	G	A	rs371613349		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:132380333G>A	ENST00000321867.4	+	3	561	c.210G>A	c.(208-210)ctG>ctA	p.L70L		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.L70L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCTAGGAACTGAAACATGAAA	0.632																																						uc001uje.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(208-210)CTG>CTA		Unc-51-like kinase 1				1,4405	4.2+/-10.8	0,1,2202	89.0	74.0	79.0		210	2.8	1.0	12		79	0,8600		0,0,4300	no	coding-synonymous	ULK1	NM_003565.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		70/1051	132380333	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132380333G>A	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.210G>A	12.37:g.132380333G>A							p.L70L	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	3	478	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		70			Protein kinase.		Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.210G>A	CCDS9274.1																																																																																				0.632	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3				9	59	0	0	0	0.006214	0	9	59		
ANKLE2	23141	broad.mit.edu	37	12	133327431	133327431	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:133327431C>G	ENST00000357997.5	-	3	734	c.645G>C	c.(643-645)agG>agC	p.R215S	ANKLE2_ENST00000539605.1_Missense_Mutation_p.R153S|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R215S	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	215					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.R215S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AAACATAGATCCTTTCTGGGT	0.423																																						uc001ukx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(643-645)AGG>AGC		ankyrin repeat and LEM domain containing 2							76.0	76.0	76.0					12																	133327431		1854	4088	5942	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327431C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.645G>C	12.37:g.133327431C>G	ENSP00000350686:p.Arg215Ser					ANKLE2_uc001uky.3_Missense_Mutation_p.R153S	p.R215S	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	3	712	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	215					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.645G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	c	12.03	1.814313	0.32053	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.30714	1.89;1.87;1.52	5.72	1.69	0.24217	.	0.128837	0.64402	D	0.000001	T	0.26304	0.0642	M	0.66506	2.035	0.39841	D	0.973111	B;B	0.30937	0.259;0.301	B;B	0.29267	0.061;0.1	T	0.06391	-1.0829	10	0.33940	T	0.23	-10.6346	6.2222	0.20687	0.0:0.5219:0.132:0.3461	.	215;215	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	S	153;215;215	ENSP00000446268:R153S;ENSP00000350686:R215S;ENSP00000337651:R215S	ENSP00000337651:R215S	R	-	3	2	ANKLE2	131837504	0.993000	0.37304	1.000000	0.80357	0.671000	0.39405	0.275000	0.18698	0.773000	0.33404	0.650000	0.86243	AGG		0.423	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1				8	74	0	0	0	0.004482	0	8	74		
LATS2	26524	broad.mit.edu	37	13	21562346	21562346	+	Missense_Mutation	SNP	G	G	A	rs147172274	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:21562346G>A	ENST00000382592.4	-	4	1978	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C	LATS2_ENST00000542899.1_Missense_Mutation_p.R525C|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.R525C(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GACTTGCTGCGCAGCAGCAGG	0.726																																						uc009zzs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(1573-1575)CGC>TGC		LATS, large tumor suppressor, homolog 2							30.0	32.0	31.0					13																	21562346		2202	4299	6501	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562346G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1573C>T	13.37:g.21562346G>A	ENSP00000372035:p.Arg525Cys					LATS2_uc001unr.3_Missense_Mutation_p.R525C	p.R525C	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1938	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	525						Missense_Mutation	SNP	ENST00000382592.4	37	c.1573C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925893	0.52759	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.59224	0.28;0.28	4.98	4.98	0.66077	.	1.518660	0.04071	N	0.308003	T	0.41926	0.1180	N	0.08118	0	0.09310	N	1	P	0.51653	0.947	B	0.34452	0.183	T	0.59295	-0.7481	10	0.44086	T	0.13	.	18.501	0.90880	0.0:0.0:1.0:0.0	.	525	Q9NRM7	LATS2_HUMAN	C	525	ENSP00000372035:R525C;ENSP00000441817:R525C	ENSP00000372035:R525C	R	-	1	0	LATS2	20460346	0.959000	0.32827	0.086000	0.20670	0.967000	0.64934	5.187000	0.65087	2.604000	0.88044	0.549000	0.68633	CGC		0.726	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1				8	47	0	0	0	0.00308	0	8	47		
CENPJ	55835	broad.mit.edu	37	13	25457361	25457361	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:25457361C>G	ENST00000381884.4	-	17	4156	c.3971G>C	c.(3970-3972)aGa>aCa	p.R1324T	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1324					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)	p.R1324T(1)		endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GTCCTTAACTCTTATCCGACC	0.428																																						uc001upt.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(3970-3972)AGA>ACA		centromere protein J							346.0	290.0	309.0					13																	25457361		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25457361C>G	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3971G>C	13.37:g.25457361C>G	ENSP00000371308:p.Arg1324Thr					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	p.R1324T	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	17	4224	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1324					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3971G>C	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890157	0.91889	.	.	ENSG00000151849	ENST00000381884	D	0.83914	-1.78	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94072	0.7336	10	0.87932	D	0	.	19.0075	0.92857	0.0:1.0:0.0:0.0	.	1324	Q9HC77	CENPJ_HUMAN	T	1324	ENSP00000371308:R1324T	ENSP00000371308:R1324T	R	-	2	0	CENPJ	24355361	1.000000	0.71417	0.722000	0.30670	0.897000	0.52465	7.113000	0.77095	2.791000	0.96007	0.591000	0.81541	AGA		0.428	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1		NM_018451		3	150	0	0	0	0.004672	0	3	150		
TRPC4	7223	broad.mit.edu	37	13	38225536	38225536	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:38225536C>T	ENST00000379705.3	-	8	2802	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	TRPC4_ENST00000338947.5_Missense_Mutation_p.E476K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E649K|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.E649K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.E649K|TRPC4_ENST00000355779.2_Missense_Mutation_p.E649K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E476K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	649	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.E649K(2)		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)		GTACCTCCTTCTTCAAAATAA	0.428																																						uc001uws.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(2)|breast(1)	6						c.(1945-1947)GAA>AAA		transient receptor potential cation channel,							132.0	129.0	130.0					13																	38225536		2203	4300	6503	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.chr13:38225536C>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.1945G>A	13.37:g.38225536C>T	ENSP00000369027:p.Glu649Lys					TRPC4_uc010abv.2_Missense_Mutation_p.E229K|TRPC4_uc001uwt.2_Missense_Mutation_p.E649K|TRPC4_uc010tey.1_Missense_Mutation_p.E649K|TRPC4_uc010abw.2_Missense_Mutation_p.E476K|TRPC4_uc010abx.2_Missense_Mutation_p.E649K|TRPC4_uc010aby.2_Intron	p.E649K	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)	8	2180	-			649			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.1945G>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624807	0.96660	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000447043	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.91476	0.7309	L	0.58969	1.84	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.996;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.987;0.999;0.993;0.999	D	0.91707	0.5378	10	0.87932	D	0	-29.474	19.7571	0.96298	0.0:1.0:0.0:0.0	.	649;649;476;649;649	Q9UBN4-3;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	K	649;649;476;476;649;649;649	ENSP00000369027:E649K;ENSP00000369003:E649K;ENSP00000342580:E476K;ENSP00000369001:E476K;ENSP00000348025:E649K;ENSP00000351264:E649K;ENSP00000414316:E649K	ENSP00000342580:E476K	E	-	1	0	TRPC4	37123536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.758000	0.94735	0.561000	0.74099	GAA		0.428	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2		NM_003306		18	49	0	0	0	0.008871	0	18	49		
ELF1	1997	broad.mit.edu	37	13	41507794	41507794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:41507794G>A	ENST00000239882.3	-	9	1941	c.1627C>T	c.(1627-1629)Cag>Tag	p.Q543*	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Nonsense_Mutation_p.Q519*	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	543					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q543*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		GCAACCAGCTGTGAACTGCGA	0.453																																						uc001uxs.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(1627-1629)CAG>TAG		E74-like factor 1 (ets domain transcription							97.0	92.0	94.0					13																	41507794		2203	4300	6503	SO:0001587	stop_gained	1997				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:41507794G>A	M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1627C>T	13.37:g.41507794G>A	ENSP00000239882:p.Gln543*					ELF1_uc010tfc.1_Nonsense_Mutation_p.Q519*|ELF1_uc010acd.2_Nonsense_Mutation_p.Q436*	p.Q543*	NM_172373	NP_758961	P32519	ELF1_HUMAN		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)	9	2000	-		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)	543					B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Nonsense_Mutation	SNP	ENST00000239882.3	37	c.1627C>T	CCDS9374.1	.	.	.	.	.	.	.	.	.	.	G	39	7.342058	0.98224	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	.	.	.	5.63	5.63	0.86233	.	0.225560	0.37219	N	0.002199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.9472	0.58379	0.074:0.0:0.9259:0.0	.	.	.	.	X	519;285;543	.	ENSP00000239882:Q543X	Q	-	1	0	ELF1	40405794	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	6.135000	0.71696	2.648000	0.89879	0.591000	0.81541	CAG		0.453	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044654.3		NM_172373		10	99	0	0	0	0.008291	0	10	99		
DNAJC15	29103	broad.mit.edu	37	13	43643082	43643082	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:43643082G>A	ENST00000379221.2	+	3	601	c.177G>A	c.(175-177)cgG>cgA	p.R59R	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	59					cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R59R(4)		endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		ACGCATTTCGGATCTGGAAAC	0.333																																						uc001uyy.2		NaN																	4	Substitution - coding silent(4)		urinary_tract(2)|endometrium(2)		0						c.(175-177)CGG>CGA		DNAJ domain-containing							100.0	96.0	97.0					13																	43643082		2203	4300	6503	SO:0001819	synonymous_variant	29103					integral to membrane	heat shock protein binding	g.chr13:43643082G>A	AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"""Heat shock proteins / DNAJ (HSP40)"""	20325	protein-coding gene	gene with protein product		615339	"""DnaJ (Hsp40) homolog, subfamily D, member 1"""	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.177G>A	13.37:g.43643082G>A							p.R59R	NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)	3	578	+		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	59					B2R4L0|Q5T219|Q6X963	Silent	SNP	ENST00000379221.2	37	c.177G>A	CCDS9388.1																																																																																				0.333	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2		NM_013238		3	35	0	0	0	0.009096	0	3	35		
TSC22D1	8848	broad.mit.edu	37	13	45147767	45147767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:45147767G>C	ENST00000458659.2	-	1	2934	c.2444C>G	c.(2443-2445)tCa>tGa	p.S815*	TSC22D1_ENST00000460842.1_5'Flank|TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	815	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S815*(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CAACTGCTGTGAAACAATTCC	0.468																																						uc001uzn.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(2443-2445)TCA>TGA		TSC22 domain family, member 1 isoform 1							131.0	138.0	136.0					13																	45147767		2203	4300	6503	SO:0001587	stop_gained	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45147767G>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.2444C>G	13.37:g.45147767G>C	ENSP00000397435:p.Ser815*					TSC22D1_uc001uzo.1_Intron	p.S815*	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2935	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	815			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Nonsense_Mutation	SNP	ENST00000458659.2	37	c.2444C>G	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	42	9.355617	0.99147	.	.	ENSG00000102804	ENST00000458659	.	.	.	4.77	1.96	0.26148	.	0.887861	0.09470	N	0.797815	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	2.5326	0.04706	0.1724:0.2265:0.4746:0.1264	.	.	.	.	X	815	.	ENSP00000397435:S815X	S	-	2	0	TSC22D1	44045767	0.005000	0.15991	0.233000	0.24025	0.741000	0.42261	1.760000	0.38430	0.619000	0.30197	0.462000	0.41574	TCA		0.468	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2		NM_006022		18	101	0	0	0	0.00499	0	18	101		
ZC3H13	23091	broad.mit.edu	37	13	46559516	46559516	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:46559516C>G	ENST00000242848.4	-	10	1984	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E546Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	546	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E546Q(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTCTGGACTCATTCCTTATT	0.438																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(1636-1638)GAG>CAG		zinc finger CCCH-type containing 13							105.0	104.0	105.0					13																	46559516		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559516C>G	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1636G>C	13.37:g.46559516C>G	ENSP00000242848:p.Glu546Gln					ZC3H13_uc001vas.1_Missense_Mutation_p.E546Q|ZC3H13_uc001vat.1_Missense_Mutation_p.E546Q	p.E546Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1642	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	546			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1636G>C		.	.	.	.	.	.	.	.	.	.	C	15.86	2.959146	0.53400	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.32988	2.42;1.43	5.73	5.73	0.89815	.	0.089901	0.47455	D	0.000231	T	0.22085	0.0532	N	0.08118	0	0.80722	D	1	B;B	0.20459	0.026;0.045	B;B	0.28465	0.042;0.09	T	0.08432	-1.0722	10	0.27785	T	0.31	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	546;546	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	546;546;362	ENSP00000242848:E546Q;ENSP00000282007:E546Q	ENSP00000242848:E546Q	E	-	1	0	ZC3H13	45457517	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.861000	0.98227	0.655000	0.94253	GAG		0.438	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1		NM_015070		6	76	0	0	0	0.001168	0	6	76		
CPB2	1361	broad.mit.edu	37	13	46656653	46656653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:46656653G>A	ENST00000181383.4	-	4	323	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Q103*|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	103					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q103*(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATCTGCTGTTGAATAAGATCT	0.483																																						uc001vaw.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(307-309)CAA>TAA		plasma carboxypeptidase B2 isoform a							158.0	143.0	148.0					13																	46656653		2203	4300	6503	SO:0001587	stop_gained	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46656653G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.307C>T	13.37:g.46656653G>A	ENSP00000181383:p.Gln103*					uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.Q103*	p.Q103*	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	4	374	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	103					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Nonsense_Mutation	SNP	ENST00000181383.4	37	c.307C>T	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861700	0.51482	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	.	.	.	5.65	2.69	0.31865	.	0.689263	0.14351	N	0.325047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.6515	0.39899	0.0:0.4648:0.401:0.1342	.	.	.	.	X	103	.	ENSP00000181383:Q103X	Q	-	1	0	CPB2	45554654	0.078000	0.21339	0.011000	0.14972	0.276000	0.26787	1.021000	0.30040	1.361000	0.45981	0.655000	0.94253	CAA		0.483	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2		NM_001872		23	63	0	0	0	0.003954	0	23	63		
DHRS12	79758	broad.mit.edu	37	13	52373793	52373793	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:52373793C>T	ENST00000444610.2	-	2	80	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000218981.1_Start_Codon_SNP_p.M1I|DHRS12_ENST00000280056.2_Start_Codon_SNP_p.M1I	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	23							oxidoreductase activity (GO:0016491)	p.M1I(4)		cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATGCAGATTCATAGCCACTC	0.493																																						uc001vfq.2		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|large_intestine(2)		0						c.(67-69)GAA>AAA		RecName: Full=Dehydrogenase/reductase SDR family member 12;          EC=1.1.-.-;							147.0	143.0	144.0					13																	52373793		2203	4300	6503	SO:0001583	missense	79758						binding|oxidoreductase activity	g.chr13:52373793C>T	AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	25832	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 40C, member 1"""					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.67G>A	13.37:g.52373793C>T	ENSP00000411565:p.Glu23Lys					DHRS12_uc001vfr.1_Missense_Mutation_p.M1I|DHRS12_uc001vfs.1_Missense_Mutation_p.M1I	p.E23K			A0PJE2	DHR12_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	2	115	-		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)	23					Q96GB2|Q9H8H1	Missense_Mutation	SNP	ENST00000444610.2	37	c.67G>A	CCDS58292.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.72|16.72	3.201808|3.201808	0.58234|0.58234	.|.	.|.	ENSG00000102796|ENSG00000102796	ENST00000444610|ENST00000218981;ENST00000280056	D|D;D	0.85339|0.92752	-1.97|-2.5;-3.1	3.72|3.72	2.88|2.88	0.33553|0.33553	.|.	.|0.210259	.|0.47852	.|D	.|0.000219	D|D	0.86364|0.86364	0.5915|0.5915	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|B;B	0.39022|0.24426	0.655|0.103;0.025	B|B;B	0.42495|0.21546	0.389|0.035;0.01	T|T	0.81645|0.81645	-0.0839|-0.0839	8|9	0.05959|0.35671	T|T	0.93|0.21	.|.	9.5347|9.5347	0.39216|0.39216	0.0:0.8933:0.0:0.1067|0.0:0.8933:0.0:0.1067	.|.	23|1;1	A0PJE2|A0PJE2-3;A0PJE2-2	DHR12_HUMAN|.;.	K|I	23|1	ENSP00000411565:E23K|ENSP00000218981:M1I;ENSP00000280056:M1I	ENSP00000411565:E23K|ENSP00000218981:M1I	E|M	-|-	1|3	0|0	DHRS12|DHRS12	51271794|51271794	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.554000|0.554000	0.35429|0.35429	4.322000|4.322000	0.59215|0.59215	1.161000|1.161000	0.42604|0.42604	0.655000|0.655000	0.94253|0.94253	GAA|ATG		0.493	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045036.3		NM_024705		78	104	0	0	0	0.00361	0	78	104		
CKAP2	26586	broad.mit.edu	37	13	53036693	53036693	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:53036693G>C	ENST00000378037.5	+	5	1389	c.1299G>C	c.(1297-1299)ttG>ttC	p.L433F	CKAP2_ENST00000378034.3_Missense_Mutation_p.L432F|CKAP2_ENST00000258607.5_Missense_Mutation_p.L432F|CKAP2_ENST00000490903.1_Missense_Mutation_p.L384F	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2									p.L432F(1)		breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		GCCTGAACTTGATTAATGAGG	0.299																																						uc001vgv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1297-1299)TTG>TTC		cytoskeleton associated protein 2 isoform 2							48.0	47.0	47.0					13																	53036693		2203	4300	6503	SO:0001583	missense	26586				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53036693G>C	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1299G>C	13.37:g.53036693G>C	ENSP00000367276:p.Leu433Phe					CKAP2_uc001vgt.2_Missense_Mutation_p.L432F|CKAP2_uc001vgu.2_Missense_Mutation_p.L432F|CKAP2_uc010tha.1_Missense_Mutation_p.L384F	p.L433F	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	5	1496	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	433						Missense_Mutation	SNP	ENST00000378037.5	37	c.1299G>C	CCDS41893.1	.	.	.	.	.	.	.	.	.	.	.	13.04	2.118044	0.37339	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037;ENST00000490903	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.76	0.0826	0.14429	.	0.206111	0.34025	N	0.004337	T	0.57184	0.2036	M	0.85945	2.785	0.34535	D	0.70964	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.61322	-0.7086	10	0.87932	D	0	-9.7394	0.8548	0.01180	0.2577:0.3302:0.2441:0.1679	.	384;433;432;433	E9PD90;Q8WWK9;B2RMQ4;A8MYU4	.;CKAP2_HUMAN;.;.	F	433;432;432;433;384	ENSP00000258607:L432F;ENSP00000367273:L432F;ENSP00000367276:L433F;ENSP00000417830:L384F	ENSP00000258607:L432F	L	+	3	2	CKAP2	51934694	1.000000	0.71417	0.904000	0.35570	0.225000	0.24961	0.631000	0.24568	0.050000	0.15949	0.655000	0.94253	TTG		0.299	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2				4	48	0	0	0	0.009096	0	4	48		
DIAPH3	81624	broad.mit.edu	37	13	60348372	60348372	+	Silent	SNP	C	C	T	rs369779991		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:60348372C>T	ENST00000400324.4	-	27	3490	c.3270G>A	c.(3268-3270)caG>caA	p.Q1090Q	DIAPH3_ENST00000400319.1_Silent_p.Q1020Q|DIAPH3_ENST00000400320.1_Silent_p.Q1044Q|DIAPH3_ENST00000400330.1_Silent_p.Q1090Q|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Silent_p.Q1079Q|DIAPH3_ENST00000267215.4_Silent_p.Q1090Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1090					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q1090Q(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GACTGAGACTCTGCCGAACAT	0.328																																						uc001vht.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(3268-3270)CAG>CAA		diaphanous homolog 3 isoform a		C	,	0,3616		0,0,1808	67.0	63.0	64.0		3270,2481	-7.4	0.8	13		64	1,8147		0,1,4073	no	coding-synonymous,coding-synonymous	DIAPH3	NM_001042517.1,NM_030932.3	,	0,1,5881	TT,TC,CC		0.0123,0.0,0.0085	,	1090/1194,827/850	60348372	1,11763	1808	4074	5882	SO:0001819	synonymous_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60348372C>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3270G>A	13.37:g.60348372C>T						DIAPH3_uc001vhu.2_Silent_p.Q827Q	p.Q1090Q	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	27	3489	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	1090					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	c.3270G>A	CCDS41898.1																																																																																				0.328	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3		NM_001042517		19	20	0	0	0	0.010504	0	19	20		
TBC1D4	9882	broad.mit.edu	37	13	75869130	75869130	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:75869130G>C	ENST00000377636.3	-	18	3522	c.3176C>G	c.(3175-3177)tCc>tGc	p.S1059C	TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000425511.1_Missense_Mutation_p.S223C|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S1051C|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S996C	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1059	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.S1059C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AAGGAGCCTGGACAGCTGGTA	0.363																																						uc001vjl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3175-3177)TCC>TGC		TBC1 domain family, member 4							78.0	77.0	77.0					13																	75869130		1873	4118	5991	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75869130G>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3176C>G	13.37:g.75869130G>C	ENSP00000366863:p.Ser1059Cys					TBC1D4_uc010tht.1_Missense_Mutation_p.S269C|TBC1D4_uc010thu.1_Missense_Mutation_p.S216C|TBC1D4_uc010aer.2_Missense_Mutation_p.S1051C|TBC1D4_uc010aes.2_Missense_Mutation_p.S996C	p.S1059C	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	18	3523	-		Prostate(6;0.014)|Breast(118;0.0982)	1059			Rab-GAP TBC.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.3176C>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984453	0.93044	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.55	5.55	0.83447	Rab-GAP/TBC domain (5);	0.083772	0.51477	N	0.000083	T	0.46112	0.1376	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.993;0.971;0.991	T	0.52290	-0.8595	10	0.87932	D	0	-19.6989	19.5156	0.95162	0.0:0.0:1.0:0.0	.	223;996;1051;1059	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	C	1059;1051;996;223	ENSP00000366863:S1059C;ENSP00000395986:S1051C;ENSP00000366852:S996C;ENSP00000390654:S223C	ENSP00000366852:S996C	S	-	2	0	TBC1D4	74767131	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.338000	0.96553	2.605000	0.88082	0.563000	0.77884	TCC		0.363	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1		NM_014832		13	66	0	0	0	0.00245	0	13	66		
RNF113B	140432	broad.mit.edu	37	13	98829136	98829136	+	Missense_Mutation	SNP	C	C	T	rs199939990		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:98829136C>T	ENST00000267291.6	-	1	383	c.355G>A	c.(355-357)Gag>Aag	p.E119K	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	119							zinc ion binding (GO:0008270)	p.E119K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCTCCTTCTCGGTGTCCTGC	0.667																																						uc001vnk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(355-357)GAG>AAG		ring finger protein 113B							74.0	71.0	72.0					13																	98829136		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98829136C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.355G>A	13.37:g.98829136C>T	ENSP00000267291:p.Glu119Lys					FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	p.E119K	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	386	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		119					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.355G>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232049	0.39399	.	.	ENSG00000139797	ENST00000267291	T	0.34275	1.37	1.16	1.16	0.20824	.	0.000000	0.85682	U	0.000000	T	0.47488	0.1448	M	0.88181	2.935	0.45216	D	0.998222	D	0.53885	0.963	P	0.48738	0.588	T	0.54761	-0.8245	10	0.52906	T	0.07	.	8.184	0.31328	0.0:1.0:0.0:0.0	.	119	Q8IZP6	R113B_HUMAN	K	119	ENSP00000267291:E119K	ENSP00000267291:E119K	E	-	1	0	RNF113B	97627137	0.996000	0.38824	0.874000	0.34290	0.096000	0.18686	3.443000	0.52907	0.936000	0.37367	0.484000	0.47621	GAG		0.667	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3		NM_178861		22	35	0	0	0	0.002299	0	22	35		
OR4E2	26686	broad.mit.edu	37	14	22133602	22133602	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:22133602C>T	ENST00000408935.1	+	1	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F102F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACAGCTCTTCTTCCTACATC	0.463																																						uc010tmd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(304-306)TTC>TTT		olfactory receptor, family 4, subfamily E,							255.0	237.0	243.0					14																	22133602		2042	4205	6247	SO:0001819	synonymous_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133602C>T		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.306C>T	14.37:g.22133602C>T							p.F102F	NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	306	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	102			Helical; Name=3; (Potential).		Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	c.306C>T	CCDS41916.1																																																																																				0.463	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1				81	130	0	0	0	0.00361	0	81	130		
MMP14	4323	broad.mit.edu	37	14	23312531	23312531	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:23312531G>T	ENST00000311852.6	+	5	1015	c.754G>T	c.(754-756)Gac>Tac	p.D252Y	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	252					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D252Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	GCATTCCAGTGACCCCTCGGC	0.582																																						uc001whc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(754-756)GAC>TAC		matrix metalloproteinase 14 preproprotein							96.0	86.0	90.0					14																	23312531		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23312531G>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.754G>T	14.37:g.23312531G>T	ENSP00000308208:p.Asp252Tyr						p.D252Y	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	5	988	+	all_cancers(95;9.47e-05)		252			Extracellular (Potential).		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.754G>T	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057255	0.93846	.	.	ENSG00000157227	ENST00000311852	T	0.28895	1.59	5.66	5.66	0.87406	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.140147	0.64402	D	0.000006	T	0.62183	0.2407	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67181	-0.5735	10	0.87932	D	0	.	18.5208	0.90951	0.0:0.0:1.0:0.0	.	252	P50281	MMP14_HUMAN	Y	252	ENSP00000308208:D252Y	ENSP00000308208:D252Y	D	+	1	0	MMP14	22382371	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.669000	0.68081	2.677000	0.91161	0.655000	0.94253	GAC		0.582	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3		NM_004995		14	40	1	0	3.45872e-05	0.004007	3.57798e-05	14	40		
LRP10	26020	broad.mit.edu	37	14	23346713	23346713	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:23346713G>A	ENST00000359591.4	+	7	2810	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	707					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.E707K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGCTGAGGCAGAGGATGAGCC	0.627																																						uc001whd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(2119-2121)GAG>AAG		low density lipoprotein receptor-related protein							22.0	21.0	21.0					14																	23346713		2201	4300	6501	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346713G>A	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.2119G>A	14.37:g.23346713G>A	ENSP00000352601:p.Glu707Lys					LRP10_uc001whe.2_Intron	p.E707K	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2672	+	all_cancers(95;4.69e-05)		707			Cytoplasmic (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.2119G>A	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878420	0.91740	.	.	ENSG00000197324	ENST00000359591	D	0.93307	-3.2	5.0	5.0	0.66597	.	0.054293	0.64402	D	0.000001	D	0.92698	0.7679	L	0.44542	1.39	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	D	0.91724	0.5391	10	0.36615	T	0.2	-19.2452	15.3267	0.74168	0.0:0.0:1.0:0.0	.	707	Q7Z4F1	LRP10_HUMAN	K	707	ENSP00000352601:E707K	ENSP00000352601:E707K	E	+	1	0	LRP10	22416553	1.000000	0.71417	0.991000	0.47740	0.672000	0.39443	6.588000	0.74076	2.596000	0.87737	0.462000	0.41574	GAG		0.627	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3				7	7	0	0	0	0.00308	0	7	7		
PSME1	5720	broad.mit.edu	37	14	24607692	24607692	+	Missense_Mutation	SNP	C	C	T	rs144591736		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:24607692C>T	ENST00000206451.6	+	10	697	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	EMC9_ENST00000558200.1_5'Flank|RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000382708.3_Missense_Mutation_p.R198W|PSME1_ENST00000561435.1_Missense_Mutation_p.R198W|PSME1_ENST00000559123.1_Missense_Mutation_p.R39W	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)	p.R198W(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GGGTGATTATCGGCAGCTGGT	0.607																																						uc001wmg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(592-594)CGG>TGG		proteasome activator subunit 1 isoform 1							108.0	105.0	106.0					14																	24607692		2203	4300	6503	SO:0001583	missense	5720				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex		g.chr14:24607692C>T		CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.592C>T	14.37:g.24607692C>T	ENSP00000206451:p.Arg198Trp					PSME1_uc001wmh.2_Missense_Mutation_p.R198W	p.R198W	NM_006263	NP_006254	Q06323	PSME1_HUMAN		GBM - Glioblastoma multiforme(265;0.00831)	10	686	+			198					A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	ENST00000206451.6	37	c.592C>T	CCDS9612.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	12.81	2.049286	0.36181	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.51817	0.69;0.69	5.09	3.22	0.36961	Proteasome activator pa28, REG beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.81112	2.525	0.80722	D	1	P;P	0.48834	0.916;0.844	B;B	0.38712	0.28;0.172	T	0.57562	-0.7790	10	0.87932	D	0	.	12.1252	0.53913	0.3102:0.6898:0.0:0.0	.	198;198	A6NJG9;Q06323	.;PSME1_HUMAN	W	198	ENSP00000206451:R198W;ENSP00000372155:R198W	ENSP00000206451:R198W	R	+	1	2	PSME1	23677532	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.495000	0.35627	0.683000	0.31428	0.563000	0.77884	CGG		0.607	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071910.2		NM_006263		27	105	0	0	0	0.004656	0	27	105		
ARHGAP5	394	broad.mit.edu	37	14	32560018	32560018	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:32560018A>G	ENST00000345122.3	+	2	458	c.143A>G	c.(142-144)gAa>gGa	p.E48G	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E48G|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E48G|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E48G	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	48					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.E48G(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAGCAGATGAATATTATCCA	0.383																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(142-144)GAA>GGA		Rho GTPase activating protein 5 isoform b							130.0	124.0	126.0					14																	32560018		2203	4300	6503	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560018A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.143A>G	14.37:g.32560018A>G	ENSP00000371897:p.Glu48Gly					ARHGAP5_uc001wrm.2_Missense_Mutation_p.E48G|ARHGAP5_uc001wrn.2_Missense_Mutation_p.E48G|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.E48G	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	382	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		48					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.143A>G	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	A	9.716	1.158393	0.21454	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;0.83	5.55	5.55	0.83447	.	0.263268	0.43919	D	0.000509	T	0.74489	0.3723	L	0.38175	1.15	0.36888	D	0.889747	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.74697	-0.3578	10	0.66056	D	0.02	.	15.6934	0.77473	1.0:0.0:0.0:0.0	.	48;48	Q13017-2;Q13017	.;RHG05_HUMAN	G	48	ENSP00000452222:E48G;ENSP00000441692:E48G;ENSP00000371897:E48G;ENSP00000393307:E48G;ENSP00000451579:E48G	ENSP00000371897:E48G	E	+	2	0	ARHGAP5	31629769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.089000	0.64492	2.098000	0.63641	0.528000	0.53228	GAA		0.383	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		21	40	0	0	0	0.002299	0	21	40		
ARHGAP5	394	broad.mit.edu	37	14	32560228	32560228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:32560228G>A	ENST00000345122.3	+	2	668	c.353G>A	c.(352-354)cGt>cAt	p.R118H	ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R118H|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R118H|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R118H	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	118					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R118H(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATATAAAACGTGCAGCTGCA	0.388																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(352-354)CGT>CAT		Rho GTPase activating protein 5 isoform b							69.0	67.0	68.0					14																	32560228		2203	4299	6502	SO:0001583	missense	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32560228G>A	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.353G>A	14.37:g.32560228G>A	ENSP00000371897:p.Arg118His					ARHGAP5_uc001wrm.2_Missense_Mutation_p.R118H|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R118H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.R118H	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	592	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		118					A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	ENST00000345122.3	37	c.353G>A	CCDS32062.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681937	0.68042	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T	0.58506	1.85;1.85;1.85;1.85;0.33	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.79191	0.4404	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80594	-0.1313	10	0.72032	D	0.01	.	20.0086	0.97443	0.0:0.0:1.0:0.0	.	118;118	Q13017-2;Q13017	.;RHG05_HUMAN	H	118	ENSP00000452222:R118H;ENSP00000441692:R118H;ENSP00000371897:R118H;ENSP00000393307:R118H;ENSP00000451579:R118H	ENSP00000371897:R118H	R	+	2	0	ARHGAP5	31629979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.717000	0.92951	0.655000	0.94253	CGT		0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1		NM_001030055		9	37	0	0	0	0.006214	0	9	37		
LRFN5	145581	broad.mit.edu	37	14	42355925	42355925	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:42355925C>G	ENST00000298119.4	+	3	1286	c.97C>G	c.(97-99)Ctt>Gtt	p.L33V	LRFN5_ENST00000554171.1_Missense_Mutation_p.L33V|LRFN5_ENST00000554120.1_Missense_Mutation_p.L33V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	33	LRRNT.					integral component of membrane (GO:0016021)		p.L33V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCTCCTAATCTTGCAACCCT	0.383										HNSCC(30;0.082)																												uc001wvm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(97-99)CTT>GTT		leucine rich repeat and fibronectin type III							82.0	74.0	77.0					14																	42355925		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42355925C>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.97C>G	14.37:g.42355925C>G	ENSP00000298119:p.Leu33Val	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.L33V	p.L33V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1295	+			33			Extracellular (Potential).|LRRNT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.97C>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783035	0.49891	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.54675	0.62;0.56;0.56	5.56	5.56	0.83823	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.50627	D	0.000104	T	0.62551	0.2437	M	0.64170	1.965	0.54753	D	0.999987	P;P	0.51653	0.84;0.947	P;P	0.51701	0.584;0.677	T	0.63024	-0.6729	10	0.46703	T	0.11	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	33;33	G3V364;Q96NI6	.;LRFN5_HUMAN	V	33	ENSP00000298119:L33V;ENSP00000451897:L33V;ENSP00000451067:L33V	ENSP00000298119:L33V	L	+	1	0	LRFN5	41425675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.048000	0.57390	2.595000	0.87683	0.650000	0.86243	CTT		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1		NM_152447		7	34	0	0	0	0.001984	0	7	34		
OTX2	5015	broad.mit.edu	37	14	57270957	57270957	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:57270957G>A	ENST00000555006.1	-	3	606	c.198C>T	c.(196-198)ttC>ttT	p.F66F	OTX2_ENST00000408990.3_Silent_p.F66F|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000339475.5_Silent_p.F74F			P32243	OTX2_HUMAN	orthodenticle homeobox 2	66					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.F74F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCTCTCGCATGAAGATGTCTG	0.597																																						uc001xcp.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(196-198)TTC>TTT		orthodenticle homeobox 2 isoform b							93.0	76.0	82.0					14																	57270957		2203	4300	6503	SO:0001819	synonymous_variant	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57270957G>A	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.198C>T	14.37:g.57270957G>A						OTX2_uc010aou.2_Silent_p.F66F|OTX2_uc001xcq.2_Silent_p.F74F	p.F66F	NM_172337	NP_758840	P32243	OTX2_HUMAN			2	369	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		66			Homeobox.		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Silent	SNP	ENST00000555006.1	37	c.198C>T	CCDS41960.1																																																																																				0.597	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1		NM_021728.		21	31	0	0	0	0.012319	0	21	31		
SYNE2	23224	broad.mit.edu	37	14	64519306	64519306	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:64519306C>T	ENST00000344113.4	+	48	8887	c.8675C>T	c.(8674-8676)tCa>tTa	p.S2892L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S2925L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S2892L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2892					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.S2892L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTGGAATCTCAACACATCTT	0.413																																						uc001xgm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8674-8676)TCA>TTA		spectrin repeat containing, nuclear envelope 2							59.0	58.0	58.0					14																	64519306		1900	4123	6023	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64519306C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8675C>T	14.37:g.64519306C>T	ENSP00000341781:p.Ser2892Leu					SYNE2_uc001xgl.2_Missense_Mutation_p.S2892L	p.S2892L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8905	+			2892			Potential.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8675C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	9.660	1.143931	0.21205	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.54675	1.32;1.32;0.56	5.51	3.69	0.42338	.	0.000000	0.44902	D	0.000417	T	0.35913	0.0948	L	0.34521	1.04	0.25448	N	0.988032	B;B	0.14805	0.007;0.011	B;B	0.13407	0.004;0.009	T	0.13229	-1.0517	10	0.26408	T	0.33	.	6.0904	0.19991	0.1517:0.6925:0.0:0.1559	.	2892;2892	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	2892;2892;2925;2925	ENSP00000350719:S2892L;ENSP00000341781:S2892L;ENSP00000452570:S2925L	ENSP00000261678:S2925L	S	+	2	0	SYNE2	63589059	0.005000	0.15991	0.310000	0.25168	0.423000	0.31445	0.909000	0.28558	1.328000	0.45358	0.313000	0.20887	TCA		0.413	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		21	17	0	0	0	0.012319	0	21	17		
ELMSAN1	91748	broad.mit.edu	37	14	74196502	74196502	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74196502C>T	ENST00000286523.5	-	4	2718	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E646K	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	646					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E646K(1)									AAGCTCCGCTCAGAGGGGTGG	0.622																																						uc001xot.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(1936-1938)GAG>AAG		hypothetical protein LOC91748							64.0	60.0	62.0					14																	74196502		2203	4300	6503	SO:0001583	missense	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74196502C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1936G>A	14.37:g.74196502C>T	ENSP00000286523:p.Glu646Lys					C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.E646K|C14orf43_uc010tud.1_Missense_Mutation_p.E646K|C14orf43_uc010arw.2_RNA	p.E646K	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	4	2719	-			646					Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1936G>A	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700351	0.68501	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	5.27	5.27	0.74061	.	0.083213	0.49305	D	0.000150	T	0.06508	0.0167	N	0.01729	-0.75	0.41513	D	0.98835	B;B	0.33694	0.421;0.421	B;B	0.27608	0.081;0.081	T	0.43861	-0.9365	10	0.46703	T	0.11	-26.7044	18.8795	0.92351	0.0:1.0:0.0:0.0	.	646;646	A0PJD3;Q6PJG2	.;CN043_HUMAN	K	646	ENSP00000377634:E646K;ENSP00000286523:E646K;ENSP00000407767:E646K;ENSP00000402380:E646K	ENSP00000286523:E646K	E	-	1	0	C14orf43	73266255	0.996000	0.38824	0.996000	0.52242	0.996000	0.88848	3.788000	0.55446	2.441000	0.82636	0.478000	0.44815	GAG		0.622	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1		NM_194278		14	19	0	0	0	0.001855	0	14	19		
ELMSAN1	91748	broad.mit.edu	37	14	74196685	74196685	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74196685C>G	ENST00000286523.5	-	4	2535	c.1753G>C	c.(1753-1755)Gag>Cag	p.E585Q	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E585Q	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E585Q(1)									TTCATGTCCTCTGCCTGGAGA	0.567																																						uc001xot.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(1753-1755)GAG>CAG		hypothetical protein LOC91748							31.0	30.0	30.0					14																	74196685		2202	4299	6501	SO:0001583	missense	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74196685C>G	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1753G>C	14.37:g.74196685C>G	ENSP00000286523:p.Glu585Gln					C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.E585Q|C14orf43_uc010tud.1_Missense_Mutation_p.E585Q|C14orf43_uc010arw.2_RNA	p.E585Q	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	4	2536	-			585					Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1753G>C	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	9.097	1.003070	0.19121	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.15487	2.43;2.43;2.43;2.42	5.25	5.25	0.73442	.	0.263074	0.32301	N	0.006297	T	0.10121	0.0248	L	0.27053	0.805	0.20196	N	0.999922	P;B	0.35272	0.493;0.18	B;B	0.26202	0.067;0.064	T	0.27434	-1.0074	10	0.19147	T	0.46	-15.8418	11.47	0.50264	0.1796:0.8204:0.0:0.0	.	585;585	A0PJD3;Q6PJG2	.;CN043_HUMAN	Q	585	ENSP00000377634:E585Q;ENSP00000286523:E585Q;ENSP00000407767:E585Q;ENSP00000402380:E585Q	ENSP00000286523:E585Q	E	-	1	0	C14orf43	73266438	0.995000	0.38212	0.932000	0.37286	0.026000	0.11368	4.958000	0.63660	2.434000	0.82447	0.579000	0.79373	GAG		0.567	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1		NM_194278		10	26	0	0	0	0.006214	0	10	26		
ELMSAN1	91748	broad.mit.edu	37	14	74205546	74205546	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:74205546G>C	ENST00000286523.5	-	2	1948	c.1166C>G	c.(1165-1167)tCc>tGc	p.S389C	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.S389C|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	389	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S389C(1)									CTGCCCCAGGGAGCCAGGTGG	0.677																																						uc001xot.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(1165-1167)TCC>TGC		hypothetical protein LOC91748							14.0	15.0	15.0					14																	74205546		2198	4288	6486	SO:0001583	missense	91748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr14:74205546G>C	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1166C>G	14.37:g.74205546G>C	ENSP00000286523:p.Ser389Cys					C14orf43_uc001xou.2_Missense_Mutation_p.S389C|C14orf43_uc010tud.1_Missense_Mutation_p.S389C|C14orf43_uc010arw.2_RNA	p.S389C	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)	2	1949	-			389			Pro-rich.		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1166C>G	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237793	0.22711	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	4.39	3.43	0.39272	.	1.003400	0.08027	N	0.992889	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B;B	0.28512	0.214;0.214	B;B	0.30105	0.111;0.111	T	0.16600	-1.0397	10	0.54805	T	0.06	-1.552	4.4747	0.11729	0.1499:0.0:0.6322:0.2179	.	389;389	A0PJD3;Q6PJG2	.;CN043_HUMAN	C	389	ENSP00000377634:S389C;ENSP00000286523:S389C;ENSP00000407767:S389C;ENSP00000402380:S389C	ENSP00000286523:S389C	S	-	2	0	C14orf43	73275299	0.327000	0.24678	0.949000	0.38748	0.886000	0.51366	2.350000	0.44063	2.163000	0.67991	0.491000	0.48974	TCC		0.677	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1		NM_194278		6	11	0	0	0	0.001984	0	6	11		
RPS6KA5	9252	broad.mit.edu	37	14	91372604	91372604	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:91372604C>G	ENST00000261991.3	-	8	1019	c.846G>C	c.(844-846)atG>atC	p.M282I	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.M282I|RPS6KA5_ENST00000556304.1_5'UTR|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.M203I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	282	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M282I(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTAAAGCACTCATTTCTTGGG	0.383																																						uc001xys.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(844-846)ATG>ATC		ribosomal protein S6 kinase, polypeptide 5							106.0	99.0	101.0					14																	91372604		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91372604C>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.846G>C	14.37:g.91372604C>G	ENSP00000261991:p.Met282Ile					RPS6KA5_uc010twi.1_Missense_Mutation_p.M203I|RPS6KA5_uc001xyt.2_Missense_Mutation_p.M282I|RPS6KA5_uc010att.1_RNA	p.M282I	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	8	1061	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	282			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.846G>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392093	0.42410	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.51574	0.7;0.7;0.7	5.33	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.079417	0.85682	N	0.000000	T	0.19087	0.0458	N	0.01140	-0.99	0.58432	D	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.05099	-1.0906	10	0.27785	T	0.31	.	9.8767	0.41209	0.1391:0.7879:0.0:0.0729	.	282;282	O75582-2;O75582	.;KS6A5_HUMAN	I	282;203;282	ENSP00000261991:M282I;ENSP00000442803:M203I;ENSP00000402787:M282I	ENSP00000261991:M282I	M	-	3	0	RPS6KA5	90442357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.877000	0.48506	1.358000	0.45922	0.585000	0.79938	ATG		0.383	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2		NM_004755		4	55	0	0	0	0.009096	0	4	55		
UBR7	55148	broad.mit.edu	37	14	93693381	93693381	+	Nonstop_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:93693381G>C	ENST00000013070.6	+	11	1514	c.1278G>C	c.(1276-1278)taG>taC	p.*426Y	UBR7_ENST00000416753.1_Nonstop_Mutation_p.*350Y	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	0							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.*426Y(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ACTGCAGCTAGAGTGGAGTAT	0.428																																						uc001ybm.3		NaN																	1	Nonstop extension(1)		urinary_tract(1)		0						c.(1276-1278)TAG>TAC		ubiquitin protein ligase E3 component n-recognin							68.0	66.0	67.0					14																	93693381		2203	4300	6503	SO:0001578	stop_lost	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93693381G>C	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.1278G>C	14.37:g.93693381G>C	ENSP00000013070:p.*426Tyrext*4					UBR7_uc001ybn.3_Nonstop_Mutation_p.*350Y|UBR7_uc010auq.2_Nonstop_Mutation_p.*275Y	p.*426Y	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			11	1514	+			426					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Nonstop_Mutation	SNP	ENST00000013070.6	37	c.1278G>C	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.86|11.86	1.763777|1.763777	0.31228|0.31228	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000535646|ENST00000013070;ENST00000416753	.|.	.|.	.|.	5.63|5.63	2.8|2.8	0.32819|0.32819	.|.	.|.	.|.	.|.	.|.	T|.	0.36303|.	0.0962|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20472|.	-1.0274|.	5|.	0.45353|.	T|.	0.12|.	.|.	9.3995|9.3995	0.38424|0.38424	0.2741:0.0:0.7259:0.0|0.2741:0.0:0.7259:0.0	.|.	.|.	.|.	.|.	Q|Y	350|426;350	.|.	ENSP00000444034:E350Q|.	E|X	+|+	1|3	0|2	UBR7|UBR7	92763134|92763134	1.000000|1.000000	0.71417|0.71417	0.621000|0.621000	0.29145|0.29145	0.346000|0.346000	0.29079|0.29079	2.384000|2.384000	0.44362|0.44362	0.319000|0.319000	0.23209|0.23209	-0.136000|-0.136000	0.14681|0.14681	GAG|TAG		0.428	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1		NM_175748		10	35	0	0	0	0.006214	0	10	35		
DDX24	57062	broad.mit.edu	37	14	94526925	94526925	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94526925C>T	ENST00000330836.5	-	5	1563	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	DDX24_ENST00000544005.1_Missense_Mutation_p.E228K|DDX24_ENST00000555054.1_Missense_Mutation_p.E435K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	478	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.E478K(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TGGCCTTTCTCAACCATCCGG	0.493																																						uc001ycj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1432-1434)GAG>AAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							98.0	92.0	94.0					14																	94526925		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526925C>T	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1432G>A	14.37:g.94526925C>T	ENSP00000328690:p.Glu478Lys					DDX24_uc010twq.1_Missense_Mutation_p.E435K|DDX24_uc010twr.1_Missense_Mutation_p.E228K	p.E478K	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1531	-		all_cancers(154;0.12)	478			Helicase ATP-binding.		E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1432G>A	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	C	34	5.374698	0.95923	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.15256	2.44;2.44;2.44	5.58	5.58	0.84498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	L	0.37630	1.12	0.80722	D	1	D	0.54397	0.966	P	0.62089	0.898	T	0.01367	-1.1373	10	0.72032	D	0.01	-19.8606	19.9456	0.97181	0.0:1.0:0.0:0.0	.	478	Q9GZR7	DDX24_HUMAN	K	478;228;423;104;435;435	ENSP00000328690:E478K;ENSP00000440623:E228K;ENSP00000452145:E435K	ENSP00000328690:E478K	E	-	1	0	DDX24	93596678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.479000	0.81095	2.782000	0.95742	0.655000	0.94253	GAG		0.493	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1		NM_020414		14	49	0	0	0	0.001855	0	14	49		
SERPINA9	327657	broad.mit.edu	37	14	94929550	94929550	+	Silent	SNP	C	C	T	rs139618805	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94929550C>T	ENST00000380365.3	-	5	1212	c.1134G>A	c.(1132-1134)tcG>tcA	p.S378S	SERPINA9_ENST00000337425.5_Silent_p.S396S|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Silent_p.S296S|SERPINA9_ENST00000448305.2_Silent_p.S298S|SERPINA9_ENST00000424550.2_Silent_p.S247S			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	378					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S396S(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGCCATCCTTCGATCGGACTA	0.498													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21377	0.0		0.0	False		,,,				2504	0.0					uc001ydf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|central_nervous_system(1)	2						c.(1186-1188)TCG>TCA		serine (or cysteine) proteinase inhibitor, clade		C	,	4,4192		0,4,2094	148.0	151.0	150.0		888,1188	-8.1	0.0	14	dbSNP_134	150	1,8403		0,1,4201	no	coding-synonymous,coding-synonymous	SERPINA9	NM_001042518.1,NM_175739.3	,	0,5,6295	TT,TC,CC		0.0119,0.0953,0.0397	,	296/336,396/436	94929550	5,12595	2098	4202	6300	SO:0001819	synonymous_variant	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94929550C>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.1134G>A	14.37:g.94929550C>T						SERPINA9_uc001yde.2_Silent_p.S296S|SERPINA9_uc010avc.2_Silent_p.S247S|SERPINA9_uc001ydg.2_Silent_p.S360S	p.S396S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	5	1349	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	378					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	ENST00000380365.3	37	c.1188G>A																																																																																					0.498	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2		NM_175739		20	41	0	0	0	0.010504	0	20	41		
SERPINA12	145264	broad.mit.edu	37	14	94956013	94956013	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:94956013C>G	ENST00000341228.2	-	5	1792	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	SERPINA12_ENST00000556881.1_Missense_Mutation_p.E333Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	333					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E333Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCATGTTCCTCAAAGATTTTG	0.562																																						uc001ydj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(997-999)GAG>CAG		serine (or cysteine) proteinase inhibitor, clade							132.0	107.0	116.0					14																	94956013		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94956013C>G	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.997G>C	14.37:g.94956013C>G	ENSP00000342109:p.Glu333Gln						p.E333Q	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	5	1793	-			333						Missense_Mutation	SNP	ENST00000341228.2	37	c.997G>C	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	6.991	0.553022	0.13374	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87966	-2.32;-2.32	5.16	1.12	0.20585	Serpin domain (3);	0.534899	0.18444	N	0.141047	T	0.79534	0.4462	L	0.59912	1.85	0.09310	N	1	B	0.21071	0.051	B	0.23018	0.043	T	0.63853	-0.6543	10	0.30854	T	0.27	.	1.233	0.01947	0.1525:0.3252:0.2972:0.225	.	333	Q8IW75	SPA12_HUMAN	Q	333	ENSP00000451738:E333Q;ENSP00000342109:E333Q	ENSP00000342109:E333Q	E	-	1	0	SERPINA12	94025766	0.002000	0.14202	0.187000	0.23214	0.165000	0.22458	-0.055000	0.11807	0.237000	0.21200	0.561000	0.74099	GAG		0.562	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1		NM_173850		12	24	0	0	0	0.001368	0	12	24		
GJD2	57369	broad.mit.edu	37	15	35044759	35044759	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:35044759C>T	ENST00000290374.4	-	2	1362	c.886G>A	c.(886-888)Gag>Aag	p.E296K	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	296					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.E296K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTACGAATCTCATAGATTGAC	0.527																																						uc001zis.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(886-888)GAG>AAG		gap junction protein, delta 2, 36kDa							91.0	76.0	81.0					15																	35044759		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35044759C>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.886G>A	15.37:g.35044759C>T	ENSP00000290374:p.Glu296Lys					uc001zit.1_5'Flank	p.E296K	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	886	-		all_lung(180;9.67e-07)	296			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.886G>A	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803246	0.70682	.	.	ENSG00000159248	ENST00000290374	D	0.98221	-4.8	5.86	5.86	0.93980	.	3.332840	0.00682	N	0.000681	D	0.96100	0.8729	N	0.24115	0.695	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	T	0.81331	-0.0981	10	0.12430	T	0.62	.	20.1864	0.98220	0.0:1.0:0.0:0.0	.	296	Q9UKL4	CXD2_HUMAN	K	296	ENSP00000290374:E296K	ENSP00000290374:E296K	E	-	1	0	GJD2	32832051	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	2.781000	0.95711	0.650000	0.86243	GAG		0.527	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2				6	36	0	0	0	0.001984	0	6	36		
MEIS2	4212	broad.mit.edu	37	15	37390256	37390256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:37390256C>T	ENST00000561208.1	-	2	575	c.157G>A	c.(157-159)Gcg>Acg	p.A53T	MEIS2_ENST00000559561.1_Missense_Mutation_p.A53T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A53T|MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000559085.1_Missense_Mutation_p.A40T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A53T|MEIS2_ENST00000338564.5_Missense_Mutation_p.A53T|MEIS2_ENST00000397620.2_5'UTR|RP11-128A17.1_ENST00000559509.1_RNA|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000557796.2_Missense_Mutation_p.A40T|MEIS2_ENST00000382766.2_Missense_Mutation_p.A53T|MEIS2_ENST00000340545.5_Missense_Mutation_p.A40T			O14770	MEIS2_HUMAN	Meis homeobox 2	53					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A53T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGCGTGCGCGCCGTAGTGC	0.667																																						uc001zjr.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(157-159)GCG>ACG		Meis homeobox 2 isoform c							56.0	57.0	57.0					15																	37390256		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37390256C>T	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.157G>A	15.37:g.37390256C>T	ENSP00000453793:p.Ala53Thr					MEIS2_uc001zjl.2_Missense_Mutation_p.A40T|MEIS2_uc010ucj.1_Missense_Mutation_p.A40T|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.A53T|MEIS2_uc001zjp.2_Missense_Mutation_p.A53T|MEIS2_uc001zjs.2_Missense_Mutation_p.A53T|MEIS2_uc001zju.2_Missense_Mutation_p.A40T|MEIS2_uc001zjt.2_Missense_Mutation_p.A53T	p.A53T	NM_170675	NP_733775	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	2	1194	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	53					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.157G>A	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879772	0.51801	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.51	5.51	0.81932	.	0.124594	0.64402	D	0.000009	T	0.11024	0.0269	N	0.01352	-0.895	0.80722	D	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.001;0.0	B;B;B;B;B;B	0.08055	0.0;0.003;0.003;0.001;0.001;0.0	T	0.26018	-1.0115	10	0.13853	T	0.58	-11.4821	12.4092	0.55457	0.0:0.9225:0.0:0.0775	.	40;53;53;53;53;40	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP98	.;.;MEIS2_HUMAN;.;.;.	T	53;53;53;53;53;40;40	ENSP00000326296:A53T;ENSP00000341400:A53T;ENSP00000372216:A53T;ENSP00000404185:A53T;ENSP00000391887:A53T;ENSP00000339549:A40T	ENSP00000326296:A53T	A	-	1	0	MEIS2	35177548	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.894000	0.39768	2.568000	0.86640	0.655000	0.94253	GCG		0.667	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2		NM_170677		8	43	0	0	0	0.008291	0	8	43		
MAP1A	4130	broad.mit.edu	37	15	43817277	43817277	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:43817277G>C	ENST00000300231.5	+	4	4056	c.3606G>C	c.(3604-3606)gaG>gaC	p.E1202D	MAP1A_ENST00000399453.1_Missense_Mutation_p.E1202D|MAP1A_ENST00000382031.1_Missense_Mutation_p.E1440D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1202					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.E1202D(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGTCAGAAGAGAGTCCCAGCA	0.537																																						uc001zrt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(3604-3606)GAG>GAC		microtubule-associated protein 1A	Estramustine(DB01196)						84.0	86.0	85.0					15																	43817277		1926	4124	6050	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817277G>C	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3606G>C	15.37:g.43817277G>C	ENSP00000300231:p.Glu1202Asp						p.E1202D	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	4073	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1202					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3606G>C	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719668	0.30503	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01963	4.53;4.54;4.54	5.11	2.24	0.28232	.	.	.	.	.	T	0.06325	0.0163	M	0.79475	2.455	0.38789	D	0.954949	D	0.54047	0.964	P	0.50270	0.636	T	0.18524	-1.0334	9	0.59425	D	0.04	-13.3497	8.7102	0.34378	0.3066:0.0:0.6934:0.0	.	1202	P78559	MAP1A_HUMAN	D	1440;1202;1202	ENSP00000371462:E1440D;ENSP00000382380:E1202D;ENSP00000300231:E1202D	ENSP00000300231:E1202D	E	+	3	2	MAP1A	41604569	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.757000	0.26433	0.344000	0.23847	-0.150000	0.13652	GAG		0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5		NM_002373		15	52	0	0	0	0.003163	0	15	52		
CASC4	113201	broad.mit.edu	37	15	44624216	44624216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:44624216G>C	ENST00000345795.2	+	4	786	c.516G>C	c.(514-516)ttG>ttC	p.L172F	CASC4_ENST00000360824.3_Intron|CASC4_ENST00000299957.6_Missense_Mutation_p.L172F	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	172						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L172F(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TGAAGGAATTGAGAGCACAGC	0.284																																						uc001zto.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(514-516)TTG>TTC		cancer susceptibility candidate 4 isoform a							54.0	60.0	58.0					15																	44624216		2198	4297	6495	SO:0001583	missense	113201					integral to membrane		g.chr15:44624216G>C	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.516G>C	15.37:g.44624216G>C	ENSP00000335063:p.Leu172Phe					CASC4_uc001ztp.2_Missense_Mutation_p.L172F|CASC4_uc001ztq.2_Missense_Mutation_p.L172F|CASC4_uc010bdu.1_Intron	p.L172F	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	4	815	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	172			Lumenal (Potential).|Potential.		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.516G>C	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307130	0.60305	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	D;D	0.85171	-1.95;-1.95	5.2	2.73	0.32206	.	0.153629	0.44097	D	0.000485	D	0.84915	0.5578	M	0.62723	1.935	0.80722	D	1	P;D;D	0.56035	0.928;0.959;0.974	B;P;P	0.54590	0.408;0.564;0.756	T	0.81682	-0.0822	10	0.41790	T	0.15	.	3.8245	0.08849	0.615:0.1875:0.1975:0.0	.	172;172;172	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	F	172;172;151	ENSP00000299957:L172F;ENSP00000335063:L172F	ENSP00000299957:L172F	L	+	3	2	CASC4	42411508	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.018000	0.40991	0.939000	0.37446	-0.312000	0.09012	TTG		0.284	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1		NM_138423		4	29	0	0	0	0.00308	0	4	29		
RPL4	6124	broad.mit.edu	37	15	66793735	66793735	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:66793735G>C	ENST00000307961.6	-	6	746	c.654C>G	c.(652-654)atC>atG	p.I218M	SNORD18A_ENST00000363753.1_RNA|RPL4_ENST00000568588.1_Missense_Mutation_p.I124M|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|SNORD16_ENST00000362803.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	218					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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.I218M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TGAAGGCCTTGATGATACCAT	0.443																																						uc002apv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(652-654)ATC>ATG		ribosomal protein L4							129.0	134.0	133.0					15																	66793735		2201	4299	6500	SO:0001583	missense	6124				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr15:66793735G>C	AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.654C>G	15.37:g.66793735G>C	ENSP00000311430:p.Ile218Met					RPL4_uc010bhr.2_Missense_Mutation_p.I124M|RPL4_uc002apw.2_Missense_Mutation_p.I124M|RPL4_uc002apx.2_Missense_Mutation_p.I124M|RPL4_uc010ujq.1_Missense_Mutation_p.I218M|SNORD18C_uc010bhs.1_5'Flank	p.I218M	NM_000968	NP_000959	P36578	RL4_HUMAN			6	710	-			218					A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	c.654C>G	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319513	0.60524	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.09	3.18	0.36537	Ribosomal protein L4 domain (2);	0.217343	0.47093	D	0.000241	T	0.61073	0.2318	L	0.28556	0.865	0.36742	D	0.882261	B;B	0.27853	0.004;0.191	P;P	0.53861	0.483;0.736	T	0.65709	-0.6102	9	0.62326	D	0.03	-10.7435	5.7816	0.18310	0.1446:0.0:0.477:0.3784	.	218;218	B4DFI6;P36578	.;RL4_HUMAN	M	218	.	ENSP00000311430:I218M	I	-	3	3	RPL4	64580789	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.353000	0.34045	0.623000	0.30267	-0.136000	0.14681	ATC		0.443	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2		NM_000968		26	89	0	0	0	0.005443	0	26	89		
LCTL	197021	broad.mit.edu	37	15	66853624	66853624	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:66853624C>G	ENST00000341509.5	-	5	641	c.510G>C	c.(508-510)caG>caC	p.Q170H	LCTL_ENST00000537670.1_5'UTR|LCTL_ENST00000563438.1_5'Flank	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	170					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.Q170H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTCACATTCTGCCACCCAC	0.522																																						uc002aqc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(508-510)CAG>CAC		lactase-like precursor							182.0	155.0	164.0					15																	66853624		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66853624C>G	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.510G>C	15.37:g.66853624C>G	ENSP00000343490:p.Gln170His					LCTL_uc002aqd.3_5'UTR|LCTL_uc010bhw.2_5'UTR	p.Q170H	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			5	642	-			170			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.510G>C	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044623	0.19748	.	.	ENSG00000188501	ENST00000341509	T	0.29655	1.56	5.26	4.35	0.52113	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.37865	0.1019	M	0.77616	2.38	0.80722	D	1	B	0.30634	0.288	B	0.35550	0.205	T	0.28522	-1.0041	10	0.46703	T	0.11	-27.7799	11.4246	0.50003	0.0:0.8482:0.0:0.1518	.	170	Q6UWM7	LCTL_HUMAN	H	170	ENSP00000343490:Q170H	ENSP00000343490:Q170H	Q	-	3	2	LCTL	64640678	1.000000	0.71417	0.997000	0.53966	0.018000	0.09664	1.380000	0.34351	1.369000	0.46134	-0.136000	0.14681	CAG		0.522	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2		NM_207338		18	103	0	0	0	0.012319	0	18	103		
ANPEP	290	broad.mit.edu	37	15	90349355	90349355	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:90349355C>G	ENST00000300060.6	-	2	773	c.460G>C	c.(460-462)Gag>Cag	p.E154Q		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	154	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.E154Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCCACCAGCTCAGTCTTGTCA	0.617																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(460-462)GAG>CAG		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						82.0	75.0	77.0					15																	90349355		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349355C>G	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.460G>C	15.37:g.90349355C>G	ENSP00000300060:p.Glu154Gln						p.E154Q	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	752	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		154			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.460G>C	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	C	9.280	1.047792	0.19827	.	.	ENSG00000166825	ENST00000300060	T	0.02579	4.24	4.85	4.85	0.62838	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.477337	0.25377	N	0.031106	T	0.05547	0.0146	L	0.58428	1.81	0.27009	N	0.964726	P	0.40515	0.719	P	0.46299	0.511	T	0.24905	-1.0147	10	0.21014	T	0.42	.	9.1511	0.36965	0.0:0.8999:0.0:0.1001	.	154	P15144	AMPN_HUMAN	Q	154	ENSP00000300060:E154Q	ENSP00000300060:E154Q	E	-	1	0	ANPEP	88150359	0.998000	0.40836	0.914000	0.36105	0.345000	0.29048	3.841000	0.55850	2.233000	0.73108	0.563000	0.77884	GAG		0.617	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1				11	47	0	0	0	0.001855	0	11	47		
UNC45A	55898	broad.mit.edu	37	15	91496469	91496469	+	Missense_Mutation	SNP	C	C	T	rs8041417	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr15:91496469C>T	ENST00000418476.2	+	19	2546	c.2506C>T	c.(2506-2508)Cgg>Tgg	p.R836W	RCCD1_ENST00000556618.1_5'Flank|UNC45A_ENST00000394275.2_Missense_Mutation_p.R821W|RCCD1_ENST00000394258.2_5'Flank|RCCD1_ENST00000555155.1_5'Flank|AC068831.6_ENST00000553321.1_RNA	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	836					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.R836W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCTGCTACAGCGGGCAGCTGC	0.622													c|||	9	0.00179712	0.0068	0.0	5008	,	,		20885	0.0		0.0	False		,,,				2504	0.0					uc002bqg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(2506-2508)CGG>TGG		smooth muscle cell associated protein-1 isoform			TRP/ARG,TRP/ARG	21,4375	28.1+/-56.4	0,21,2177	81.0	88.0	85.0		2461,2506	1.2	0.1	15	dbSNP_116	85	0,8596		0,0,4298	yes	missense,missense	UNC45A	NM_001039675.1,NM_018671.3	101,101	0,21,6475	TT,TC,CC		0.0,0.4777,0.1616	probably-damaging,probably-damaging	821/930,836/945	91496469	21,12971	2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91496469C>T		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.2506C>T	15.37:g.91496469C>T	ENSP00000407487:p.Arg836Trp					UNC45A_uc002bqd.2_Missense_Mutation_p.R821W|UNC45A_uc010uqr.1_Missense_Mutation_p.R228W|UNC45A_uc002bqi.2_Missense_Mutation_p.R114W|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	p.R836W	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		19	2846	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		836					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.2506C>T	CCDS10367.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	c	17.20	3.328413	0.60743	0.004777	0.0	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.51817	0.69;0.69	5.63	1.25	0.21368	Armadillo-like helical (1);Armadillo-type fold (1);	0.597742	0.17189	N	0.183588	T	0.58949	0.2158	M	0.82517	2.595	0.44702	D	0.997694	D;D	0.76494	0.999;0.999	P;P	0.60415	0.874;0.874	T	0.69749	-0.5061	10	0.72032	D	0.01	-28.1839	14.9516	0.71080	0.4848:0.5152:0.0:0.0	rs8041417	836;821	Q9H3U1;A8K6F7	UN45A_HUMAN;.	W	821;836	ENSP00000377816:R821W;ENSP00000407487:R836W	ENSP00000377816:R821W	R	+	1	2	UNC45A	89297473	0.015000	0.18098	0.071000	0.20095	0.453000	0.32348	0.649000	0.24843	-0.014000	0.14175	0.645000	0.84053	CGG		0.622	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2		NM_018671		24	116	0	0	0	0.005443	0	24	116		
UNKL	64718	broad.mit.edu	37	16	1416391	1416391	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:1416391G>A	ENST00000389221.4	-	15	1892	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	UNKL_ENST00000248104.7_Silent_p.I180I|UNKL_ENST00000391893.2_Silent_p.I180I|UNKL_ENST00000402641.2_Silent_p.I183I|UNKL_ENST00000403703.1_Silent_p.I183I|UNKL_ENST00000508903.2_Silent_p.I684I|UNKL_ENST00000397464.1_Silent_p.I133I	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	631					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.I183I(1)|p.I631I(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGAGCTGGAAGATCACCTGCA	0.697																																						uc010brn.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1021-1023)ATC>ATT		SubName: Full=Putative ubiquitin-protein ligase;          EC=6.3.2.19; Flags: Fragment;							12.0	13.0	13.0					16																	1416391		2187	4287	6474	SO:0001819	synonymous_variant	64718					cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding	g.chr16:1416391G>A	BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"""Zinc fingers, CCCH-type domain containing"""	14184	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 28"", ""unkempt homolog (Drosophila)-like"""	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1893C>T	16.37:g.1416391G>A						UNKL_uc002cln.2_Silent_p.I183I|UNKL_uc002clo.2_Silent_p.I180I|UNKL_uc002clp.2_Silent_p.I133I	p.I341I			Q9H9P5	UNKL_HUMAN			9	1041	-		Hepatocellular(780;0.0893)	631					B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Silent	SNP	ENST00000389221.4	37	c.1023C>T	CCDS53981.1																																																																																				0.697	UNKL-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_001037125		9	8	0	0	0	0.004482	0	9	8		
MAPK8IP3	23162	broad.mit.edu	37	16	1817918	1817918	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:1817918G>C	ENST00000250894.4	+	28	3676	c.3519G>C	c.(3517-3519)gaG>gaC	p.E1173D	MAPK8IP3_ENST00000356010.5_Splice_Site_p.E1167D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1173					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)	p.E1179D(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCTGACAGAGAGTGAGTGGC	0.657																																						uc002cmk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|central_nervous_system(1)	3						c.(3517-3519)GAG>GAC		mitogen-activated protein kinase 8 interacting							55.0	65.0	62.0					16																	1817918		2108	4219	6327	SO:0001630	splice_region_variant	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1817918G>C	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3520+1G>C	16.37:g.1817918G>C						MAPK8IP3_uc002cml.2_Missense_Mutation_p.E1167D|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E1174D	p.E1173D	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN			28	3639	+			1173					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.3519G>C	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988691	0.35131	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.35236	1.32;1.32	3.39	2.42	0.29668	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	L	0.38175	1.15	0.58432	D	0.999999	B;B;D	0.63046	0.056;0.365;0.992	B;B;D	0.75484	0.06;0.32;0.986	T	0.31420	-0.9944	10	0.66056	D	0.02	-25.9952	7.1709	0.25719	0.2119:0.0:0.7881:0.0	.	1174;1167;1173	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	D	1173;1167	ENSP00000250894:E1173D;ENSP00000348290:E1167D	ENSP00000250894:E1173D	E	+	3	2	MAPK8IP3	1757919	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.236000	0.58675	0.636000	0.30508	0.462000	0.41574	GAG		0.657	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2		NM_001040439	Missense_Mutation	16	78	0	0	0	0.006122	0	16	78		
ZNF263	10127	broad.mit.edu	37	16	3339480	3339480	+	Missense_Mutation	SNP	G	G	A	rs79713839	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:3339480G>A	ENST00000219069.5	+	6	1850	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Missense_Mutation_p.E159K	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	325					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R325Q(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GACCAGGCCCGAGGGGAGGTG	0.597													G|||	13	0.00259585	0.0	0.0	5008	,	,		17523	0.0119		0.0	False		,,,				2504	0.001					uc002cuq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(973-975)CGA>CAA		zinc finger protein 263							61.0	68.0	66.0					16																	3339480		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339480G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.974G>A	16.37:g.3339480G>A	ENSP00000219069:p.Arg325Gln					ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR	p.R325Q	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1306	+			325					B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.974G>A	CCDS10499.1	10	0.004578754578754579	0	0.0	0	0.0	10	0.017482517482517484	0	0.0	G	8.421	0.846443	0.16963	.	.	ENSG00000006194	ENST00000219069	T	0.04970	3.52	5.23	2.01	0.26516	.	0.439260	0.21954	N	0.066698	T	0.01287	0.0042	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.46610	-0.9179	10	0.06365	T	0.9	.	5.6445	0.17582	0.1824:0.0:0.6537:0.1639	.	325	O14978	ZN263_HUMAN	Q	325	ENSP00000219069:R325Q	ENSP00000219069:R325Q	R	+	2	0	ZNF263	3279481	0.155000	0.22806	0.455000	0.27031	0.005000	0.04900	0.923000	0.28757	0.776000	0.33473	0.655000	0.94253	CGA		0.597	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2				26	111	0	0	0	0.00632	0	26	111		
NAGPA	51172	broad.mit.edu	37	16	5077281	5077281	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:5077281C>G	ENST00000312251.3	-	8	1293	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	425					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)	p.R425T(1)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ATAGGTACCTCTGGAGACGCT	0.607																																						uc002cyg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1273-1275)AGA>ACA		N-acetylglucosamine-1-phosphodiester	N-Acetyl-D-glucosamine(DB00141)						56.0	58.0	57.0					16																	5077281		2197	4300	6497	SO:0001583	missense	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5077281C>G	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1274G>C	16.37:g.5077281C>G	ENSP00000310998:p.Arg425Thr					NAGPA_uc010buc.2_Intron|NAGPA_uc002cyf.2_Intron|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Missense_Mutation_p.R200T	p.R425T	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN			8	1295	-			425			Lumenal (Potential).		B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	c.1274G>C	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	2.163	-0.391757	0.04932	.	.	ENSG00000103174	ENST00000312251	T	0.73258	-0.73	5.28	-7.82	0.01205	.	1.597720	0.03508	N	0.219127	T	0.44074	0.1276	N	0.10707	0.03	0.35671	D	0.813329	B	0.06786	0.001	B	0.06405	0.002	T	0.10497	-1.0627	10	0.17832	T	0.49	-2.5358	7.9899	0.30235	0.0:0.5047:0.2281:0.2672	.	425	Q9UK23	NAGPA_HUMAN	T	425	ENSP00000310998:R425T	ENSP00000310998:R425T	R	-	2	0	NAGPA	5017282	0.000000	0.05858	0.026000	0.17262	0.003000	0.03518	-2.188000	0.01249	-1.231000	0.02557	-0.211000	0.12701	AGA		0.607	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1		NM_016256		6	46	0	0	0	0.001168	0	6	46		
TXNDC11	51061	broad.mit.edu	37	16	11792004	11792004	+	Missense_Mutation	SNP	C	C	T	rs143169078		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:11792004C>T	ENST00000356957.3	-	8	1272	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E362K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	389					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)	p.E362K(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGATGACTTTCGGCCAGGGGA	0.512																																						uc010buu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1165-1167)GAA>AAA		thioredoxin domain containing 11		C	LYS/GLU	2,4392	4.2+/-10.8	0,2,2195	116.0	115.0	116.0		1084	4.5	1.0	16	dbSNP_134	116	0,8600		0,0,4300	no	missense	TXNDC11	NM_015914.5	56	0,2,6495	TT,TC,CC		0.0,0.0455,0.0154	possibly-damaging	362/959	11792004	2,12992	2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11792004C>T	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1165G>A	16.37:g.11792004C>T	ENSP00000349439:p.Glu389Lys					TXNDC11_uc002dbg.1_Missense_Mutation_p.E362K	p.E389K	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN			8	1227	-			389					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1165G>A		.	.	.	.	.	.	.	.	.	.	C	19.49	3.837346	0.71373	4.55E-4	0.0	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.15603	2.61;2.41	5.48	4.54	0.55810	.	0.491421	0.23261	N	0.050126	T	0.32041	0.0816	L	0.60455	1.87	0.43808	D	0.996367	P;D	0.71674	0.946;0.998	B;P	0.59056	0.207;0.851	T	0.02150	-1.1205	10	0.33940	T	0.23	-24.1976	13.652	0.62316	0.0:0.9258:0.0:0.0742	.	389;362	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	K	389;362	ENSP00000349439:E389K;ENSP00000283033:E362K	ENSP00000283033:E362K	E	-	1	0	TXNDC11	11699505	0.987000	0.35691	0.971000	0.41717	0.918000	0.54935	2.904000	0.48719	1.345000	0.45676	-0.126000	0.14955	GAA		0.512	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1		NM_015914		15	89	0	0	0	0.006122	0	15	89		
DNAH3	55567	broad.mit.edu	37	16	21063188	21063188	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21063188G>A	ENST00000261383.3	-	29	4040	c.4041C>T	c.(4039-4041)gcC>gcT	p.A1347A	DNAH3_ENST00000415178.1_Splice_Site_p.A1347A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1347	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A1347A(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACGTCGCGGGCTGTTGGGA	0.522																																						uc010vbe.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(4039-4041)GCC>GCT		dynein, axonemal, heavy chain 3							88.0	85.0	86.0					16																	21063188		2201	4300	6501	SO:0001630	splice_region_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21063188G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4040-1C>T	16.37:g.21063188G>A							p.A1347A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	29	4041	-			1347			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.4041C>T	CCDS10594.1																																																																																				0.522	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539	Silent	20	44	0	0	0	0.010504	0	20	44		
DNAH3	55567	broad.mit.edu	37	16	21086798	21086798	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21086798C>T	ENST00000261383.3	-	21	3053	c.3054G>A	c.(3052-3054)gtG>gtA	p.V1018V	DNAH3_ENST00000415178.1_Silent_p.V1018V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1018	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.V1018V(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCTGAACGTCACGTTAACCC	0.453																																						uc010vbe.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3052-3054)GTG>GTA		dynein, axonemal, heavy chain 3							138.0	122.0	127.0					16																	21086798		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21086798C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3054G>A	16.37:g.21086798C>T							p.V1018V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	21	3054	-			1018			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.3054G>A	CCDS10594.1																																																																																				0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		12	58	0	0	0	0.001855	0	12	58		
DNAH3	55567	broad.mit.edu	37	16	21132082	21132082	+	Missense_Mutation	SNP	C	C	T	rs201150477		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:21132082C>T	ENST00000261383.3	-	11	1677	c.1678G>A	c.(1678-1680)Gcg>Acg	p.A560T	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.A560T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	560	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A560T(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGGCAGCCGCGTGCATGCTG	0.507																																						uc010vbe.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(1678-1680)GCG>ACG		dynein, axonemal, heavy chain 3							71.0	61.0	65.0					16																	21132082		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21132082C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1678G>A	16.37:g.21132082C>T	ENSP00000261383:p.Ala560Thr					DNAH3_uc002die.2_Intron	p.A560T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	11	1678	-			560			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.1678G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	5.988	0.366186	0.11352	.	.	ENSG00000158486	ENST00000544558;ENST00000261383;ENST00000415178	T;T	0.22743	1.94;2.08	3.1	0.964	0.19655	.	4.265340	0.00550	N	0.000244	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.25486	0.127	B	0.14023	0.01	T	0.20174	-1.0283	10	0.08599	T	0.76	.	4.3792	0.11286	0.0:0.6324:0.2332:0.1343	.	560	Q8TD57	DYH3_HUMAN	T	111;560;560	ENSP00000261383:A560T;ENSP00000394245:A560T	ENSP00000261383:A560T	A	-	1	0	DNAH3	21039583	0.013000	0.17824	0.027000	0.17364	0.013000	0.08279	2.635000	0.46537	0.318000	0.23185	0.530000	0.56133	GCG		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		5	25	0	0	0	0.000602	0	5	25		
KIAA0556	23247	broad.mit.edu	37	16	27640096	27640096	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:27640096G>A	ENST00000261588.4	+	4	274	c.255G>A	c.(253-255)cgG>cgA	p.R85R		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	85						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R85R(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CATCACCGCGGAAAGCTATTC	0.532																																						uc002dow.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(253-255)CGG>CGA		hypothetical protein LOC23247							124.0	110.0	115.0					16																	27640096		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27640096G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.255G>A	16.37:g.27640096G>A							p.R85R	NM_015202	NP_056017	O60303	K0556_HUMAN			4	279	+			85					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.255G>A	CCDS32415.1																																																																																				0.532	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1		NM_015202		12	97	0	0	0	0.010729	0	12	97		
SRCAP	10847	broad.mit.edu	37	16	30721411	30721411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30721411G>A	ENST00000262518.4	+	8	1481	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E366K|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.E366K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	366	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.E366K(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGATGGGCCTGAAGAAGGTGC	0.587																																						uc002dze.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(1096-1098)GAA>AAA		Snf2-related CBP activator protein							37.0	37.0	37.0					16																	30721411		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30721411G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1096G>A	16.37:g.30721411G>A	ENSP00000262518:p.Glu366Lys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E223K|SRCAP_uc010bzz.1_5'UTR|SNORA30_uc002dzh.1_5'Flank	p.E366K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		8	1481	+			366			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.1096G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676338	0.47886	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.76;-2.72;-2.7	5.39	5.39	0.77823	.	0.202801	0.34879	N	0.003607	D	0.88518	0.6458	L	0.54323	1.7	0.33828	D	0.629897	B;B	0.34290	0.447;0.319	B;B	0.34931	0.192;0.071	D	0.90602	0.4545	10	0.35671	T	0.21	-2.4309	16.1768	0.81857	0.0:0.0:1.0:0.0	.	366;366	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	366	ENSP00000262518:E366K;ENSP00000378499:E366K;ENSP00000343042:E366K	ENSP00000262518:E366K	E	+	1	0	SRCAP	30628912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.709000	0.68384	2.808000	0.96608	0.655000	0.94253	GAA		0.587	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		5	21	0	0	0	0.000602	0	5	21		
FBXL19	54620	broad.mit.edu	37	16	30941563	30941563	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30941563C>T	ENST00000380310.2	+	7	1177	c.1019C>T	c.(1018-1020)tCg>tTg	p.S340L	FBXL19_ENST00000565690.1_Missense_Mutation_p.S204L|FBXL19_ENST00000471231.2_Missense_Mutation_p.S28L|FBXL19_ENST00000562319.1_Missense_Mutation_p.S320L|FBXL19_ENST00000338343.4_Missense_Mutation_p.S320L	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	340	Ser-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S170L(1)|p.S340L(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCGGGCACATCGCTGAGTGAG	0.677																																						uc002eab.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(1)|breast(1)	4						c.(1018-1020)TCG>TTG		F-box and leucine-rich repeat protein 19							28.0	31.0	30.0					16																	30941563		2033	4179	6212	SO:0001583	missense	54620						DNA binding|zinc ion binding	g.chr16:30941563C>T	AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.1019C>T	16.37:g.30941563C>T	ENSP00000369666:p.Ser340Leu					FBXL19_uc002dzz.1_Missense_Mutation_p.S28L|FBXL19_uc002eaa.1_Missense_Mutation_p.S239L	p.S340L	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN			7	1177	+			340			Ser-rich.		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	c.1019C>T	CCDS45465.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095112	0.56075	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.24723	1.84;2.15	5.3	5.3	0.74995	.	1.090610	0.07192	N	0.855982	T	0.14614	0.0353	N	0.14661	0.345	0.33854	D	0.632994	P;P	0.44195	0.828;0.787	B;B	0.28991	0.066;0.097	T	0.14420	-1.0473	10	0.25106	T	0.35	-7.6084	14.0656	0.64826	0.0:0.848:0.152:0.0	.	340;297	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	L	320;340	ENSP00000339712:S320L;ENSP00000369666:S340L	ENSP00000339712:S320L	S	+	2	0	FBXL19	30849064	0.012000	0.17670	0.996000	0.52242	0.953000	0.61014	2.210000	0.42816	2.490000	0.84030	0.655000	0.94253	TCG		0.677	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_019085		7	41	0	0	0	0.004482	0	7	41		
SETD1A	9739	broad.mit.edu	37	16	30991419	30991419	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:30991419G>C	ENST00000262519.8	+	14	4998	c.4312G>C	c.(4312-4314)Gag>Cag	p.E1438Q		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1438	Interaction with CFP1.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E1438Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCTGGACTCAGAGGACATGAG	0.602																																						uc002ead.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(4312-4314)GAG>CAG		SET domain containing 1A							51.0	57.0	55.0					16																	30991419		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30991419G>C	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4312G>C	16.37:g.30991419G>C	ENSP00000262519:p.Glu1438Gln						p.E1438Q	NM_014712	NP_055527	O15047	SET1A_HUMAN			14	4998	+			1438			Interaction with CFP1.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4312G>C	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127116	0.20959	.	.	ENSG00000099381	ENST00000262519	D	0.97575	-4.44	3.93	2.94	0.34122	COMPASS complex Set1 subunit, N-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.80332	2.49	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98164	1.0448	10	0.87932	D	0	.	11.6307	0.51173	0.0:0.0:0.8204:0.1796	.	1438	O15047	SET1A_HUMAN	Q	1438	ENSP00000262519:E1438Q	ENSP00000262519:E1438Q	E	+	1	0	SETD1A	30898920	1.000000	0.71417	0.999000	0.59377	0.309000	0.27889	7.677000	0.84024	0.834000	0.34852	0.462000	0.41574	GAG		0.602	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2		NM_014712		3	26	0	0	0	0.004672	0	3	26		
N4BP1	9683	broad.mit.edu	37	16	48595890	48595890	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:48595890C>T	ENST00000262384.3	-	2	900	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	222					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)		p.G222R(1)|p.G269R(1)		breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATATTCAGCCCTGTGGCAGCA	0.408																																						uc002efp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(664-666)GGG>AGG		Nedd4 binding protein 1							80.0	74.0	76.0					16																	48595890		1848	4085	5933	SO:0001583	missense	9683				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body		g.chr16:48595890C>T	AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.664G>A	16.37:g.48595890C>T	ENSP00000262384:p.Gly222Arg						p.G222R	NM_153029	NP_694574	O75113	N4BP1_HUMAN			2	901	-		all_cancers(37;0.179)|all_lung(18;0.11)	222					A7MD49|Q2YDX1	Missense_Mutation	SNP	ENST00000262384.3	37	c.664G>A	CCDS45479.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641055	0.29157	.	.	ENSG00000102921	ENST00000262384	T	0.41758	0.99	5.61	4.66	0.58398	.	0.279472	0.33419	N	0.004922	T	0.23649	0.0572	N	0.19112	0.55	0.09310	N	1	B	0.31680	0.335	B	0.28139	0.086	T	0.10823	-1.0613	10	0.52906	T	0.07	-7.9241	5.3429	0.15994	0.0:0.7267:0.0:0.2733	.	222	O75113	N4BP1_HUMAN	R	222	ENSP00000262384:G222R	ENSP00000262384:G222R	G	-	1	0	N4BP1	47153391	0.011000	0.17503	0.048000	0.18961	0.963000	0.63663	0.851000	0.27751	2.632000	0.89209	0.655000	0.94253	GGG		0.408	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429920.1		NM_014664		7	32	0	0	0	0.001984	0	7	32		
PDP2	57546	broad.mit.edu	37	16	66919264	66919264	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:66919264G>A	ENST00000311765.2	+	2	1411	c.1077G>A	c.(1075-1077)ttG>ttA	p.L359L	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	359					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)	p.L359L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTAAAGAGTTGCAGCGCAGCA	0.557																																						uc002eqk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1075-1077)TTG>TTA		pyruvate dehydrogenase phosphatase isoenzyme 2							98.0	95.0	96.0					16																	66919264		2200	4300	6500	SO:0001819	synonymous_variant	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919264G>A	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1077G>A	16.37:g.66919264G>A							p.L359L	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1239	+		Ovarian(137;0.0563)	359					A8K924	Silent	SNP	ENST00000311765.2	37	c.1077G>A	CCDS10822.1																																																																																				0.557	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2		NM_020786		4	54	0	0	0	0.009096	0	4	54		
FHOD1	29109	broad.mit.edu	37	16	67271177	67271177	+	Missense_Mutation	SNP	C	C	T	rs547533260		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67271177C>T	ENST00000258201.4	-	9	1205	c.958G>A	c.(958-960)Gac>Aac	p.D320N		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.D320N(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGGTCGACGTCAGTGCCCGCA	0.657																																						uc002esl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(958-960)GAC>AAC		formin homology 2 domain containing 1							44.0	46.0	45.0					16																	67271177		2198	4299	6497	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67271177C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.958G>A	16.37:g.67271177C>T	ENSP00000258201:p.Asp320Asn					FHOD1_uc010ced.2_Missense_Mutation_p.D127N|FHOD1_uc010vjh.1_5'UTR	p.D320N	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	9	1070	-		Ovarian(137;0.0563)	320			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.958G>A	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962148	0.92791	.	.	ENSG00000135723	ENST00000258201	D	0.84873	-1.91	5.66	5.66	0.87406	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.104427	0.64402	D	0.000006	T	0.80243	0.4587	L	0.41124	1.26	0.80722	D	1	B	0.29716	0.255	B	0.19391	0.025	T	0.76963	-0.2764	10	0.39692	T	0.17	.	18.3381	0.90295	0.0:1.0:0.0:0.0	.	320	Q9Y613	FHOD1_HUMAN	N	320	ENSP00000258201:D320N	ENSP00000258201:D320N	D	-	1	0	FHOD1	65828678	1.000000	0.71417	0.985000	0.45067	0.949000	0.60115	5.994000	0.70623	2.666000	0.90696	0.655000	0.94253	GAC		0.657	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2				12	37	0	0	0	0.001368	0	12	37		
ATP6V0D1	9114	broad.mit.edu	37	16	67514862	67514862	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67514862T>A	ENST00000290949.3	-	1	278	c.128A>T	c.(127-129)gAg>gTg	p.E43V	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.E43V|RP11-297D21.4_ENST00000602596.1_RNA	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	43					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)	p.E43V(1)		large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGGCTCACCCTCTAGCGTCTC	0.672																																						uc002ete.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(127-129)GAG>GTG		ATPase, H+ transporting, lysosomal, V0 subunit							45.0	48.0	47.0					16																	67514862		2198	4300	6498	SO:0001583	missense	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67514862T>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.128A>T	16.37:g.67514862T>A	ENSP00000290949:p.Glu43Val					ATP6V0D1_uc010vjo.1_Missense_Mutation_p.E43V	p.E43V	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	1	228	-		Ovarian(137;0.0563)	43					P12953|Q02547	Missense_Mutation	SNP	ENST00000290949.3	37	c.128A>T	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	T	36	5.649969	0.96714	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.42900	0.96;0.96	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73321	0.3572	M	0.93638	3.44	0.80722	D	1	P;D	0.62365	0.617;0.991	B;D	0.76071	0.173;0.987	T	0.80930	-0.1162	10	0.87932	D	0	-30.0487	15.1753	0.72907	0.0:0.0:0.0:1.0	.	43;43	F5GYQ1;P61421	.;VA0D1_HUMAN	V	43	ENSP00000290949:E43V;ENSP00000441282:E43V	ENSP00000290949:E43V	E	-	2	0	ATP6V0D1	66072363	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.914000	0.87478	2.266000	0.75297	0.533000	0.62120	GAG		0.672	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1		NM_004691		13	38	0	0	0	0.004007	0	13	38		
ATP6V0D1	9114	broad.mit.edu	37	16	67514906	67514906	+	Silent	SNP	G	G	C	rs375215242		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:67514906G>C	ENST00000290949.3	-	1	234	c.84C>G	c.(82-84)ctC>ctG	p.L28L	ATP6V0D1_ENST00000540149.1_Silent_p.L28L|RP11-297D21.4_ENST00000602596.1_RNA	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	28					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)	p.L28L(1)		large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGGCCTGGCTGAGCACCCCGG	0.652																																						uc002ete.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(82-84)CTC>CTG		ATPase, H+ transporting, lysosomal, V0 subunit							51.0	52.0	52.0					16																	67514906		2198	4300	6498	SO:0001819	synonymous_variant	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67514906G>C	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.84C>G	16.37:g.67514906G>C						ATP6V0D1_uc010vjo.1_Silent_p.L28L	p.L28L	NM_004691	NP_004682	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	1	184	-		Ovarian(137;0.0563)	28					P12953|Q02547	Silent	SNP	ENST00000290949.3	37	c.84C>G	CCDS10838.1																																																																																				0.652	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1		NM_004691		15	42	0	0	0	0.007413	0	15	42		
HAS3	3038	broad.mit.edu	37	16	69143494	69143494	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:69143494G>C	ENST00000306560.1	+	2	352	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	HAS3_ENST00000219322.3_Missense_Mutation_p.E66Q|HAS3_ENST00000569188.1_Missense_Mutation_p.E66Q	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	66					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.E66Q(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCCTTCCTGGAGCACCGGCG	0.647																																						uc010cfh.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(196-198)GAG>CAG		hyaluronan synthase 3 isoform a							75.0	66.0	69.0					16																	69143494		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69143494G>C	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.196G>C	16.37:g.69143494G>C	ENSP00000304440:p.Glu66Gln					HAS3_uc002ewk.2_Missense_Mutation_p.E66Q|HAS3_uc010vlk.1_Missense_Mutation_p.E66Q|HAS3_uc002ewl.2_Missense_Mutation_p.E66Q	p.E66Q	NM_005329	NP_005320	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	2	420	+		Ovarian(137;0.101)	66			Cytoplasmic (Potential).		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.196G>C	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247456	0.95305	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.53857	0.6;0.67	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75476	-0.3304	10	0.52906	T	0.07	-23.3619	19.1973	0.93695	0.0:0.0:1.0:0.0	.	66;66	O00219;O00219-2	HAS3_HUMAN;.	Q	66	ENSP00000219322:E66Q;ENSP00000304440:E66Q	ENSP00000219322:E66Q	E	+	1	0	HAS3	67700995	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.721000	0.98766	2.653000	0.90120	0.561000	0.74099	GAG		0.647	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2		NM_138612		8	32	0	0	0	0.006214	0	8	32		
DDX19A	55308	broad.mit.edu	37	16	70400696	70400696	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:70400696G>A	ENST00000302243.7	+	9	1115	c.952G>A	c.(952-954)Gag>Aag	p.E318K	DDX19A_ENST00000417604.2_Missense_Mutation_p.E287K|DDX19A_ENST00000443119.2_Missense_Mutation_p.E228K	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	318	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.E318K(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				CAGCAGAGACGAGAAGTTCCA	0.542																																						uc002eyv.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(952-954)GAG>AAG		DDX19-like protein							176.0	146.0	156.0					16																	70400696		2198	4300	6498	SO:0001583	missense	55308				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:70400696G>A	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.952G>A	16.37:g.70400696G>A	ENSP00000306117:p.Glu318Lys					DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.E319K|DDX19A_uc010cfq.1_Missense_Mutation_p.E73K|DDX19A_uc010cfr.2_Missense_Mutation_p.E168K|DDX19A_uc010cfs.2_Missense_Mutation_p.E141K|DDX19A_uc010vlz.1_Missense_Mutation_p.E287K|DDX19A_uc010vma.1_Missense_Mutation_p.E228K	p.E318K	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN			9	1023	+		Ovarian(137;0.221)	318			Helicase C-terminal.		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	ENST00000302243.7	37	c.952G>A	CCDS10889.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558020	0.65538	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.05139	3.49;3.49;3.49	5.18	5.18	0.71444	Helicase, C-terminal (1);	0.046390	0.85682	D	0.000000	T	0.05044	0.0135	L	0.33485	1.01	0.80722	D	1	B;B;B;P;B	0.47604	0.014;0.014;0.026;0.898;0.025	B;B;B;B;B	0.29716	0.001;0.011;0.005;0.106;0.003	T	0.48603	-0.9021	10	0.38643	T	0.18	.	16.1891	0.81975	0.0:0.0:1.0:0.0	.	228;287;153;318;319	B4DRZ7;B4DS24;Q59FQ9;Q9NUU7;Q7Z4W5	.;.;.;DD19A_HUMAN;.	K	318;210;287;228	ENSP00000306117:E318K;ENSP00000410243:E287K;ENSP00000399208:E228K	ENSP00000306209:E210K	E	+	1	0	DDX19A	68958197	1.000000	0.71417	0.973000	0.42090	0.992000	0.81027	9.305000	0.96197	2.409000	0.81822	0.561000	0.74099	GAG		0.542	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2		NM_018332		16	79	0	0	0	0.004007	0	16	79		
FOXL1	2300	broad.mit.edu	37	16	86612413	86612413	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:86612413C>G	ENST00000320241.3	+	1	299	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	28					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L28L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						GACCCGGCCTCCCTCTGGCCT	0.692																																					NSCLC(163;308 2020 10889 11476 18208)	uc002fjr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(82-84)CTC>CTG		forkhead box L1							31.0	36.0	35.0					16																	86612413		2197	4295	6492	SO:0001819	synonymous_variant	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612413C>G	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.84C>G	16.37:g.86612413C>G							p.L28L	NM_005250	NP_005241	Q12952	FOXL1_HUMAN			1	299	+			28					Q17RR1|Q9H242	Silent	SNP	ENST00000320241.3	37	c.84C>G	CCDS10959.1																																																																																				0.692	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2		NM_005250		6	41	0	0	0	0.010729	0	6	41		
KLHDC4	54758	broad.mit.edu	37	16	87744970	87744970	+	Silent	SNP	C	C	T	rs200674595		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:87744970C>T	ENST00000270583.5	-	9	973	c.915G>A	c.(913-915)ccG>ccA	p.P305P	KLHDC4_ENST00000353170.5_Silent_p.P248P|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Silent_p.P274P	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	305								p.P305P(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCTGGTGATTCGGGGCCATGG	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18077	0.0		0.0	False		,,,				2504	0.0					uc002fki.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(2)	2						c.(913-915)CCG>CCA		kelch domain containing 4							65.0	64.0	64.0					16																	87744970		2198	4300	6498	SO:0001819	synonymous_variant	54758							g.chr16:87744970C>T	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.915G>A	16.37:g.87744970C>T						KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.1_Silent_p.P124P|KLHDC4_uc002fkj.2_Silent_p.P274P|KLHDC4_uc002fkk.2_Silent_p.P124P|KLHDC4_uc002fkl.2_Silent_p.P248P|KLHDC4_uc010chu.1_Silent_p.P124P	p.P305P	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	9	961	-			305					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.915G>A	CCDS10963.1																																																																																				0.567	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2		NM_017566		12	62	0	0	0	0.010729	0	12	62		
FANCA	2175	broad.mit.edu	37	16	89862344	89862344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:89862344G>A	ENST00000389301.3	-	11	1006	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	FANCA_ENST00000568369.1_Nonsense_Mutation_p.Q326*	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	326					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q326*(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGAGTATCTGAGTCAGGGTA	0.512			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(976-978)CAG>TAG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							100.0	93.0	96.0					16																	89862344		2198	4300	6498	SO:0001587	stop_gained	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89862344G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.976C>T	16.37:g.89862344G>A	ENSP00000373952:p.Gln326*					FANCA_uc010vpn.1_Nonsense_Mutation_p.Q326*	p.Q326*	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	11	1018	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	326					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Nonsense_Mutation	SNP	ENST00000389301.3	37	c.976C>T	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289917	0.40494	.	.	ENSG00000187741	ENST00000389301	.	.	.	5.31	4.35	0.52113	.	0.121288	0.37393	N	0.002108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-26.7682	9.6854	0.40096	0.0799:0.1523:0.7678:0.0	.	.	.	.	X	326	.	ENSP00000373952:Q326X	Q	-	1	0	FANCA	88389845	1.000000	0.71417	0.025000	0.17156	0.050000	0.14768	5.147000	0.64851	1.382000	0.46385	0.650000	0.86243	CAG		0.512	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				10	46	0	0	0	0.006214	0	10	46		
TCF25	22980	broad.mit.edu	37	16	89940210	89940210	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr16:89940210C>T	ENST00000263346.8	+	1	191	c.135C>T	c.(133-135)gtC>gtT	p.V45V		NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	45					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V45V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGCTTGGTGTCCGGCGTCCCG	0.701																																						uc002fpb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(133-135)GTC>GTT		NULP1							13.0	18.0	16.0					16																	89940210		2180	4277	6457	SO:0001819	synonymous_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89940210C>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.135C>T	16.37:g.89940210C>T						TCF25_uc010vpp.1_Silent_p.V45V	p.V45V	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	1	217	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	45					Q2MK75|Q9UPV3	Silent	SNP	ENST00000263346.8	37	c.135C>T	CCDS10987.1																																																																																				0.701	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2		NM_014972		4	12	0	0	0	0.009096	0	4	12		
FAM101B	359845	broad.mit.edu	37	17	293277	293277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:293277G>A	ENST00000329099.4	-	2	112	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	108					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)	p.S38F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		CTTGACCAAGGAGGTGTACCT	0.657																																						uc002frj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(112-114)TCC>TTC		hypothetical protein LOC359845							46.0	51.0	49.0					17																	293277		2100	4227	6327	SO:0001583	missense	359845							g.chr17:293277G>A			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.113C>T	17.37:g.293277G>A	ENSP00000331915:p.Ser38Phe						p.S38F	NM_182705	NP_874364	Q8N5W9	F101B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)	2	387	-		Myeloproliferative disorder(207;0.204)	108						Missense_Mutation	SNP	ENST00000329099.4	37	c.113C>T		.	.	.	.	.	.	.	.	.	.	G	18.40	3.615017	0.66672	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.83073	0.5175	M	0.79123	2.44	0.47737	D	0.999506	D	0.89917	1.0	D	0.91635	0.999	D	0.84130	0.0411	8	0.87932	D	0	-3.1634	19.1767	0.93605	0.0:0.0:1.0:0.0	.	108	Q8N5W9	F101B_HUMAN	F	38	.	ENSP00000331915:S38F	S	-	2	0	FAM101B	293505	1.000000	0.71417	0.975000	0.42487	0.076000	0.17211	7.642000	0.83385	2.861000	0.98227	0.650000	0.86243	TCC		0.657	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255652.1		NM_182705		10	48	0	0	0	0.008291	0	10	48		
SCARF1	8578	broad.mit.edu	37	17	1548932	1548932	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:1548932G>A	ENST00000263071.4	-	1	109	c.60C>T	c.(58-60)tcC>tcT	p.S20S	SCARF1_ENST00000571272.1_Silent_p.S20S|SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000348987.3_Silent_p.S20S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	20					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.S20S(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTCCAGCTCGGACCCCTGAG	0.687																																						uc002fsz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(58-60)TCC>TCT		scavenger receptor class F, member 1 isoform 1							22.0	25.0	24.0					17																	1548932		2193	4298	6491	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1548932G>A	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.60C>T	17.37:g.1548932G>A						SCARF1_uc002fsy.1_Silent_p.S20S|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.S20S	p.S20S	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	110	-			20			Extracellular (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.60C>T	CCDS11007.1																																																																																				0.687	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4		NM_003693		3	3	0	0	0	0.009096	0	3	3		
OR3A1	4994	broad.mit.edu	37	17	3195373	3195373	+	Silent	SNP	C	C	T	rs201559764	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:3195373C>T	ENST00000323404.1	-	1	503	c.504G>A	c.(502-504)acG>acA	p.T168T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	168					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T168T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGAAGTTGAGCGTGGACATGG	0.567													.|||	2	0.000399361	0.0015	0.0	5008	,	,		19921	0.0		0.0	False		,,,				2504	0.0				GBM(20;287 516 18743 28660 36594)	uc002fvh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(2)|central_nervous_system(1)	3						c.(502-504)ACG>ACA		olfactory receptor, family 3, subfamily A,							183.0	167.0	173.0					17																	3195373		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195373C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.504G>A	17.37:g.3195373C>T							p.T168T	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	504	-			168			Extracellular (Potential).		Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.504G>A	CCDS11023.1																																																																																				0.567	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2				44	74	0	0	0	0.00361	0	44	74		
CAMTA2	23125	broad.mit.edu	37	17	4877755	4877755	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:4877755C>G	ENST00000348066.3	-	12	2064	c.1941G>C	c.(1939-1941)caG>caC	p.Q647H	CAMTA2_ENST00000414043.3_Missense_Mutation_p.Q670H|CAMTA2_ENST00000381311.5_Missense_Mutation_p.Q649H|CAMTA2_ENST00000572543.1_Missense_Mutation_p.Q652H|CAMTA2_ENST00000361571.5_Missense_Mutation_p.Q646H|CAMTA2_ENST00000358183.4_Missense_Mutation_p.Q647H|RP5-1050D4.2_ENST00000430920.1_RNA	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	647					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)	p.Q647H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCTTCTCCATCTGCTCCAGTC	0.587																																						uc002gah.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1939-1941)CAG>CAC		calmodulin binding transcription activator 2							146.0	113.0	124.0					17																	4877755		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4877755C>G	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1941G>C	17.37:g.4877755C>G	ENSP00000321813:p.Gln647His					CAMTA2_uc010cku.1_Missense_Mutation_p.Q670H|CAMTA2_uc002gag.1_Missense_Mutation_p.Q646H|CAMTA2_uc002gai.1_Missense_Mutation_p.Q649H|CAMTA2_uc010ckv.1_Missense_Mutation_p.Q294H	p.Q647H	NM_015099	NP_055914	O94983	CMTA2_HUMAN			12	2049	-			647					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.1941G>C	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978978	0.74360	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.36157	2.49;1.5;1.27;1.51;1.28	5.29	4.3	0.51218	.	0.068765	0.64402	D	0.000018	T	0.47600	0.1454	L	0.36672	1.1	0.40400	D	0.979631	D;D;D;D;D	0.69078	0.994;0.997;0.995;0.992;0.997	D;D;D;D;D	0.81914	0.98;0.987;0.989;0.976;0.995	T	0.44667	-0.9313	10	0.62326	D	0.03	-18.6971	12.1818	0.54216	0.0:0.9148:0.0:0.0852	.	623;670;649;647;646	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	H	670;649;646;647;647	ENSP00000412886:Q670H;ENSP00000370712:Q649H;ENSP00000354828:Q646H;ENSP00000350910:Q647H;ENSP00000321813:Q647H	ENSP00000321813:Q647H	Q	-	3	2	CAMTA2	4818479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.121000	0.50438	2.765000	0.95021	0.591000	0.81541	CAG		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1		NM_015099		10	48	0	0	0	0.006214	0	10	48		
TP53	7157	broad.mit.edu	37	17	7578419	7578419	+	Missense_Mutation	SNP	C	C	T	rs587781845		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:7578419C>T	ENST00000269305.4	-	5	700	c.511G>A	c.(511-513)Gag>Aag	p.E171K	TP53_ENST00000413465.2_Missense_Mutation_p.E171K|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.E171K|TP53_ENST00000359597.4_Missense_Mutation_p.E171K|TP53_ENST00000420246.2_Missense_Mutation_p.E171K|TP53_ENST00000445888.2_Missense_Mutation_p.E171K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E171K(11)|p.E171*(10)|p.0?(8)|p.E171Q(4)|p.E171fs*2(3)|p.E171fs*3(2)|p.E171fs*10(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.E78fs*2(1)|p.H168fs*3(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171_V172delEV(1)|p.E39K(1)|p.E78K(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCACAACCTCCGTCATGTGC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		57	Substitution - Missense(17)|Deletion - Frameshift(15)|Substitution - Nonsense(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Insertion - In frame(1)	p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1)	urinary_tract(8)|lung(8)|breast(8)|oesophagus(6)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|skin(3)|upper_aerodigestive_tract(2)|thyroid(1)|kidney(1)|endometrium(1)|liver(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(511-513)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							52.0	52.0	52.0					17																	7578419		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578419C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.511G>A	17.37:g.7578419C>T	ENSP00000269305:p.Glu171Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.E171K|TP53_uc002gih.2_Missense_Mutation_p.E171K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E39K|TP53_uc010cng.1_Missense_Mutation_p.E39K|TP53_uc002gii.1_Missense_Mutation_p.E39K|TP53_uc010cnh.1_Missense_Mutation_p.E171K|TP53_uc010cni.1_Missense_Mutation_p.E171K|TP53_uc002gij.2_Missense_Mutation_p.E171K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E78K|TP53_uc002gio.2_Missense_Mutation_p.E39K|TP53_uc010vug.1_Missense_Mutation_p.E132K	p.E171K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	705	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	171		E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.511G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234484	0.95207	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.106949	0.64402	D	0.000009	D	0.99632	0.9865	L	0.58510	1.815	0.80722	D	1	B;P;P;P;P;P;D	0.71674	0.321;0.8;0.629;0.727;0.833;0.91;0.998	P;P;B;P;P;P;D	0.75020	0.477;0.609;0.323;0.546;0.821;0.834;0.985	D	0.97784	1.0234	10	0.87932	D	0	-29.8225	17.1938	0.86887	0.0:1.0:0.0:0.0	.	132;171;171;78;171;171;171	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	K	171;171;171;171;171;171;160;78;39;78;39	ENSP00000410739:E171K;ENSP00000352610:E171K;ENSP00000269305:E171K;ENSP00000398846:E171K;ENSP00000391127:E171K;ENSP00000391478:E171K;ENSP00000425104:E39K;ENSP00000423862:E78K	ENSP00000269305:E171K	E	-	1	0	TP53	7519144	1.000000	0.71417	0.689000	0.30133	0.389000	0.30415	7.775000	0.85489	2.735000	0.93741	0.563000	0.77884	GAG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		22	36	0	0	0	0.00278	0	22	36		
TP53	7157	broad.mit.edu	37	17	7578493	7578493	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:7578493C>G	ENST00000269305.4	-	5	626	c.437G>C	c.(436-438)tGg>tCg	p.W146S	TP53_ENST00000413465.2_Missense_Mutation_p.W146S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.W146S|TP53_ENST00000359597.4_Missense_Mutation_p.W146S|TP53_ENST00000420246.2_Missense_Mutation_p.W146S|TP53_ENST00000445888.2_Missense_Mutation_p.W146S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W146*(33)|p.0?(8)|p.W146S(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.W14S(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W53S(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAATCAACCCACAGCTGCAC	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		55	Substitution - Nonsense(33)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - frameshift(1)	p.W146*(61)|p.0?(7)|p.W146R(5)|p.W146C(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.W146_S149>C(1)|p.W146fs*25(1)|p.W146S(1)|p.Q144fs*32(1)|p.W146fs*1(1)|p.W146_V147insXXXXXXX(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W146G(1)|p.V143_S149del(1)	large_intestine(10)|urinary_tract(7)|breast(7)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|oesophagus(3)|soft_tissue(2)|liver(2)|ovary(2)|stomach(1)|peritoneum(1)|lung(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(436-438)TGG>TCG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							57.0	57.0	57.0					17																	7578493		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578493C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.437G>C	17.37:g.7578493C>G	ENSP00000269305:p.Trp146Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.W146S|TP53_uc002gih.2_Missense_Mutation_p.W146S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.W14S|TP53_uc010cng.1_Missense_Mutation_p.W14S|TP53_uc002gii.1_Missense_Mutation_p.W14S|TP53_uc010cnh.1_Missense_Mutation_p.W146S|TP53_uc010cni.1_Missense_Mutation_p.W146S|TP53_uc002gij.2_Missense_Mutation_p.W146S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.W53S|TP53_uc002gio.2_Missense_Mutation_p.W14S|TP53_uc010vug.1_Missense_Mutation_p.W107S	p.W146S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	631	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	146		W -> S (in sporadic cancers; somatic mutation).|W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.437G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	5.331	0.246406	0.10130	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99719	-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52;-6.52	5.48	1.18	0.20946	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.722123	0.13656	N	0.371928	D	0.98855	0.9613	L	0.40543	1.245	0.47123	D	0.999328	P;B;B;B;B;B;P	0.52061	0.95;0.119;0.008;0.141;0.048;0.275;0.931	P;B;B;B;B;B;B	0.52823	0.71;0.101;0.01;0.137;0.162;0.162;0.377	D	0.96827	0.9608	10	0.42905	T	0.14	-1.8394	6.1405	0.20257	0.2634:0.5908:0.0:0.1458	.	107;146;146;53;146;146;146	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	146;146;146;146;146;146;135;53;14;53;14;146	ENSP00000410739:W146S;ENSP00000352610:W146S;ENSP00000269305:W146S;ENSP00000398846:W146S;ENSP00000391127:W146S;ENSP00000391478:W146S;ENSP00000425104:W14S;ENSP00000423862:W53S;ENSP00000424104:W146S	ENSP00000269305:W146S	W	-	2	0	TP53	7519218	0.210000	0.23517	0.127000	0.21898	0.057000	0.15508	0.674000	0.25218	0.083000	0.17047	0.655000	0.94253	TGG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		17	25	0	0	0	0.006122	0	17	25		
MYH8	4626	broad.mit.edu	37	17	10310054	10310054	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:10310054A>C	ENST00000403437.2	-	19	2218	c.2124T>G	c.(2122-2124)tgT>tgG	p.C708W	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	708	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.C708W(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCCTTTCCTACAGATGCGGA	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(6)|ovary(3)|breast(2)	11						c.(2122-2124)TGT>TGG		myosin, heavy chain 8, skeletal muscle,							76.0	77.0	77.0					17																	10310054		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10310054A>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2124T>G	17.37:g.10310054A>C	ENSP00000384330:p.Cys708Trp					uc002gml.1_Intron	p.C708W	NM_002472	NP_002463	P13535	MYH8_HUMAN			19	2219	-			708			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2124T>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.251244	0.59212	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.71934	-0.61	5.07	1.88	0.25563	Myosin head, motor domain (2);	0.000000	0.45867	U	0.000333	D	0.83533	0.5275	M	0.90542	3.125	0.80722	D	1	P	0.41420	0.749	P	0.56163	0.793	D	0.84896	0.0839	10	0.87932	D	0	.	12.5812	0.56391	0.1442:0.0:0.8558:0.0	.	708	P13535	MYH8_HUMAN	W	708	ENSP00000384330:C708W	ENSP00000252173:C708W	C	-	3	2	MYH8	10250779	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.837000	0.55820	0.210000	0.20664	-0.280000	0.10049	TGT		0.378	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2		NM_002472		22	69	0	0	0	0.002299	0	22	69		
MYH1	4619	broad.mit.edu	37	17	10399384	10399384	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:10399384C>T	ENST00000226207.5	-	35	5146	c.5052G>A	c.(5050-5052)ctG>ctA	p.L1684L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1684					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L1684L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGCCTGCAGCAGGTTGGCTC	0.592																																						uc002gmo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5050-5052)CTG>CTA		myosin, heavy chain 1, skeletal muscle, adult							89.0	79.0	82.0					17																	10399384		2203	4300	6503	SO:0001819	synonymous_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399384C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5052G>A	17.37:g.10399384C>T						uc002gml.1_Intron	p.L1684L	NM_005963	NP_005954	P12882	MYH1_HUMAN			35	5146	-			1684			Potential.		Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	c.5052G>A	CCDS11155.1																																																																																				0.592	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		16	45	0	0	0	0.004007	0	16	45		
DNAH9	1770	broad.mit.edu	37	17	11656266	11656266	+	Missense_Mutation	SNP	G	G	A	rs188273752		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:11656266G>A	ENST00000262442.4	+	33	6795	c.6727G>A	c.(6727-6729)Gat>Aat	p.D2243N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2243N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2243	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D2243N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACTGTCATGGATGATAACAA	0.453													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17845	0.0		0.0	False		,,,				2504	0.0					uc002gne.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6727-6729)GAT>AAT		dynein, axonemal, heavy chain 9 isoform 2							126.0	111.0	116.0					17																	11656266		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11656266G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6727G>A	17.37:g.11656266G>A	ENSP00000262442:p.Asp2243Asn					DNAH9_uc010coo.2_Missense_Mutation_p.D1537N	p.D2243N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	33	6795	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2243			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6727G>A	CCDS11160.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.2	4.982690	0.93044	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.97575	-4.44;-4.44	5.56	5.56	0.83823	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.99752	4.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98210	1.0472	10	0.87932	D	0	.	19.8965	0.96963	0.0:0.0:1.0:0.0	.	2243	Q9NYC9	DYH9_HUMAN	N	2243;2243;825	ENSP00000262442:D2243N;ENSP00000414874:D2243N	ENSP00000262442:D2243N	D	+	1	0	DNAH9	11596991	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	9.813000	0.99286	2.771000	0.95319	0.563000	0.77884	GAT		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		18	36	0	0	0	0.006122	0	18	36		
ARHGAP44	9912	broad.mit.edu	37	17	12823090	12823090	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:12823090C>G	ENST00000379672.5	+	6	706	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.Q136E|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.Q136E|MIR1269B_ENST00000580405.1_RNA	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	136	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)	p.Q136E(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCCAAATATTCAAAAGCAGAG	0.408																																						uc002gnr.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(406-408)CAA>GAA		Rho GTPase-activating protein RICH2							94.0	87.0	89.0					17																	12823090		1861	4102	5963	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12823090C>G		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.406C>G	17.37:g.12823090C>G	ENSP00000368994:p.Gln136Glu					RICH2_uc010vvk.1_Missense_Mutation_p.Q136E|RICH2_uc010vvl.1_Missense_Mutation_p.Q136E|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.Q136E|RICH2_uc010vvn.1_RNA	p.Q136E	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			6	733	+			136			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.406C>G	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553335	0.45487	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.64803	-0.12;-0.12	5.48	5.48	0.80851	BAR (3);	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.76071	0.987;0.958	T	0.80899	-0.1176	10	0.66056	D	0.02	.	16.8627	0.86022	0.0:1.0:0.0:0.0	.	136;136	A6NCP5;Q17R89	.;RHG44_HUMAN	E	136	ENSP00000368994:Q136E;ENSP00000342566:Q136E	ENSP00000342566:Q136E	Q	+	1	0	ARHGAP44	12763815	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.625000	0.67770	2.595000	0.87683	0.655000	0.94253	CAA		0.408	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1		NM_014859		7	14	0	0	0	0.001984	0	7	14		
ZNF287	57336	broad.mit.edu	37	17	16466491	16466491	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:16466491C>G	ENST00000395824.1	-	5	1301	c.684G>C	c.(682-684)gtG>gtC	p.V228V	ZNF287_ENST00000395825.3_Silent_p.V228V			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	221	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V221V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTCTTTTATCACCATCCATG	0.373																																						uc002gqi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(682-684)GTG>GTC		zinc finger protein 287							79.0	83.0	82.0					17																	16466491		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16466491C>G	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.684G>C	17.37:g.16466491C>G							p.V228V	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	5	1137	-			221			KRAB.		Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.684G>C	CCDS11179.2																																																																																				0.373	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1				11	51	0	0	0	0.00245	0	11	51		
NOS2	4843	broad.mit.edu	37	17	26101427	26101427	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:26101427C>A	ENST00000313735.6	-	12	1565	c.1332G>T	c.(1330-1332)atG>atT	p.M444I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	444					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.M444I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	GCATGTACTTCATGAAGGATT	0.557																																						uc002gzu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|breast(1)	4						c.(1330-1332)ATG>ATT		nitric oxide synthase 2A	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						100.0	95.0	97.0					17																	26101427		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26101427C>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1332G>T	17.37:g.26101427C>A	ENSP00000327251:p.Met444Ile					NOS2_uc010crh.1_Missense_Mutation_p.M444I|NOS2_uc010wab.1_Missense_Mutation_p.M444I	p.M444I	NM_000625	NP_000616	P35228	NOS2_HUMAN			12	1596	-			444					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.1332G>T	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986107	0.74589	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.21031	2.03	5.67	5.67	0.87782	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	L	0.43923	1.385	0.58432	D	0.999992	P;B	0.34977	0.478;0.398	B;B	0.38106	0.121;0.265	T	0.01256	-1.1404	10	0.39692	T	0.17	.	18.7664	0.91874	0.0:1.0:0.0:0.0	.	444;444	F8WEM3;P35228	.;NOS2_HUMAN	I	444;405;444	ENSP00000327251:M444I	ENSP00000305638:M444I	M	-	3	0	NOS2	23125554	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.908000	0.69916	2.667000	0.90743	0.561000	0.74099	ATG		0.557	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1		NM_000625		10	62	1	0	3.07112e-06	0.010729	3.20101e-06	10	62		
KIAA0100	9703	broad.mit.edu	37	17	26945944	26945944	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:26945944C>A	ENST00000528896.2	-	32	5762	c.5688G>T	c.(5686-5688)ctG>ctT	p.L1896L	SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.L1753L|KIAA0100_ENST00000579924.2_5'UTR|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.L1753L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1896						extracellular region (GO:0005576)		p.L1896L(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCTGCTTTCGCAGCTCCATCT	0.532																																						uc002hbu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|breast(1)|skin(1)	4						c.(5686-5688)CTG>CTT		hypothetical protein LOC9703 precursor							106.0	87.0	94.0					17																	26945944		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26945944C>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5688G>T	17.37:g.26945944C>A						KIAA0100_uc002hbt.2_Silent_p.L225L	p.L1896L	NM_014680	NP_055495	Q14667	K0100_HUMAN			32	5787	-	Lung NSC(42;0.00431)		1896					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.5688G>T	CCDS32595.1																																																																																				0.532	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		10	36	1	0	3.86212e-05	0.008291	3.98335e-05	10	36		
SUPT6H	6830	broad.mit.edu	37	17	27030605	27030605	+	IGR	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:27030605G>T	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.P328T|PROCA1_ENST00000439862.3_Missense_Mutation_p.P330T|PROCA1_ENST00000579650.1_5'Flank	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P328T(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCCTGGGGGAGATTTTCTC	0.547																																						uc002hcb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(988-990)CCC>ACC		protein interacting with cyclin A1							110.0	110.0	110.0					17																	27030605		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27030605G>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030605G>T						PROCA1_uc010crv.2_Missense_Mutation_p.P256T|PROCA1_uc002hca.1_Missense_Mutation_p.P328T	p.P330T	NM_152465	NP_689678	Q8NCQ7	PRCA1_HUMAN			5	1191	-	Lung NSC(42;0.00431)		356					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.988C>A	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526472	0.64860	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04654	3.58;3.58	4.84	3.85	0.44370	.	0.343384	0.25202	N	0.032370	T	0.11707	0.0285	L	0.32530	0.975	0.27779	N	0.943238	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.934;0.934	T	0.01853	-1.1260	10	0.87932	D	0	-11.1947	10.1556	0.42820	0.0971:0.0:0.9029:0.0	.	356;330;328	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	T	328;330;356	ENSP00000301039:P328T;ENSP00000411400:P330T	ENSP00000301039:P328T	P	-	1	0	PROCA1	24054732	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.269000	0.43346	1.304000	0.44892	0.655000	0.94253	CCC		0.547	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170		22	127	1	0	1.55795e-14	0.012319	1.66406e-14	22	127		
RAD51D	5892	broad.mit.edu	37	17	33428002	33428002	+	Missense_Mutation	SNP	C	C	G	rs147669627	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:33428002C>G	ENST00000345365.6	-	10	1212	c.957G>C	c.(955-957)caG>caC	p.Q319H	RAD51D_ENST00000590016.1_Missense_Mutation_p.Q339H|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000394589.4_Missense_Mutation_p.Q319H|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Missense_Mutation_p.Q207H|RAD51D_ENST00000460118.2_Missense_Mutation_p.Q200H|RAD51D_ENST00000360276.3_Missense_Mutation_p.Q274H	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	319					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)	p.Q319H(1)|p.Q207H(1)|p.Q339H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATGTGGCACTCTGCTCTGAGG	0.527								Direct reversal of damage																														uc002hir.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)		0						c.(955-957)CAG>CAC	Direct_reversal_of_damage|Homologous_recombination	RAD51-like 3 isoform 1							127.0	109.0	115.0					17																	33428002		2203	4300	6503	SO:0001583	missense	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33428002C>G	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.957G>C	17.37:g.33428002C>G	ENSP00000338790:p.Gln319His					RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_Missense_Mutation_p.E138Q|RAD51L3_uc010wcd.1_Missense_Mutation_p.Q339H|RAD51L3_uc002his.2_Missense_Mutation_p.Q207H|RAD51L3_uc010ctk.2_Missense_Mutation_p.Q200H|RAD51L3_uc010wce.1_Missense_Mutation_p.Q200H|RAD51L3_uc002hit.2_Missense_Mutation_p.Q200H|RAD51L3_uc002hiu.2_Missense_Mutation_p.Q142H	p.Q319H	NM_002878	NP_002869	O75771	RA51D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	10	1213	-		Ovarian(249;0.17)	319					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	c.957G>C	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	c	7.941	0.742799	0.15642	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766	T;T	0.43688	0.94;1.53	5.12	4.16	0.48862	.	1.019650	0.07776	N	0.952569	T	0.47619	0.1455	L	0.56769	1.78	0.20074	N	0.999935	B;P;B	0.46220	0.004;0.874;0.001	B;P;B	0.48141	0.005;0.568;0.003	T	0.32161	-0.9917	10	0.46703	T	0.11	0.0	7.2326	0.26051	0.0:0.7389:0.173:0.0881	.	339;207;319	B4DJU7;O75771-3;O75771	.;.;RA51D_HUMAN	H	319;339;319;274;207	ENSP00000338790:Q319H;ENSP00000353417:Q274H	ENSP00000338408:Q319H	Q	-	3	2	RAD51D	30452115	0.043000	0.20138	0.311000	0.25182	0.030000	0.12068	1.938000	0.40203	1.419000	0.47118	-0.126000	0.14955	CAG		0.527	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1		NM_002878		27	46	0	0	0	0.007291	0	27	46		
GRB7	2886	broad.mit.edu	37	17	37901554	37901554	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:37901554C>G	ENST00000309156.4	+	10	1327	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	GRB7_ENST00000394211.3_Missense_Mutation_p.S357C|GRB7_ENST00000394204.1_Missense_Mutation_p.S357C|GRB7_ENST00000394209.2_Missense_Mutation_p.S357C|GRB7_ENST00000309185.3_Missense_Mutation_p.S357C|GRB7_ENST00000445327.2_Missense_Mutation_p.S380C	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	357					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.S357C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGCATCCATCTTGTTTGGGC	0.597																																						uc002hsr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1069-1071)TCT>TGT		growth factor receptor-bound protein 7							69.0	60.0	63.0					17																	37901554		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37901554C>G	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1070C>G	17.37:g.37901554C>G	ENSP00000310771:p.Ser357Cys					GRB7_uc002hss.2_Missense_Mutation_p.S357C|GRB7_uc010cwc.2_Missense_Mutation_p.S357C|GRB7_uc002hst.2_Missense_Mutation_p.S357C	p.S357C	NM_005310	NP_005301	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		10	1320	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		357					B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1070C>G	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864705	0.32977	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.58506	0.33;1.48;1.48;1.48;1.47;0.33	5.84	5.84	0.93424	.	0.703640	0.14654	N	0.306417	T	0.65407	0.2688	L	0.55213	1.73	0.41908	D	0.990457	P;D	0.55172	0.944;0.97	P;P	0.50192	0.634;0.566	T	0.67177	-0.5736	10	0.66056	D	0.02	-17.4018	17.916	0.88950	0.0:1.0:0.0:0.0	.	357;357	Q14451-2;Q14451	.;GRB7_HUMAN	C	357;357;357;357;380;357	ENSP00000311752:S357C;ENSP00000310771:S357C;ENSP00000377761:S357C;ENSP00000377759:S357C;ENSP00000403459:S380C;ENSP00000377754:S357C	ENSP00000310771:S357C	S	+	2	0	GRB7	35155080	0.980000	0.34600	0.229000	0.23960	0.015000	0.08874	2.775000	0.47702	2.768000	0.95171	0.561000	0.74099	TCT		0.597	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2		NM_005310		13	34	0	0	0	0.003163	0	13	34		
PSMD3	5709	broad.mit.edu	37	17	38140722	38140722	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:38140722C>T	ENST00000264639.4	+	2	570	c.396C>T	c.(394-396)ctC>ctT	p.L132L	PSMD3_ENST00000541736.1_5'UTR	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	132					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.L132L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					ACTTTTTGCTCCCCTTCCTGG	0.517																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(394-396)CTC>CTT		proteasome 26S non-ATPase subunit 3							92.0	81.0	85.0					17																	38140722		2203	4300	6503	SO:0001819	synonymous_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38140722C>T	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.396C>T	17.37:g.38140722C>T						PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.L33L	p.L132L	NM_002809	NP_002800	O43242	PSMD3_HUMAN			2	560	+	Colorectal(19;0.000442)		132					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	c.396C>T	CCDS11356.1																																																																																				0.517	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1		NM_002809		8	59	0	0	0	0.008291	0	8	59		
CDC6	990	broad.mit.edu	37	17	38447912	38447912	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:38447912G>C	ENST00000209728.4	+	4	1123	c.652G>C	c.(652-654)Gac>Cac	p.D218H		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	218					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)	p.D218H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						GATTCTGCAAGACCTCAAGGT	0.388																																						uc002huj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(652-654)GAC>CAC		cell division cycle 6 protein							91.0	98.0	96.0					17																	38447912		2203	4300	6503	SO:0001583	missense	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.chr17:38447912G>C	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.652G>C	17.37:g.38447912G>C	ENSP00000209728:p.Asp218His						p.D218H	NM_001254	NP_001245	Q99741	CDC6_HUMAN			4	862	+			218					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.652G>C	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.301321	0.60195	.	.	ENSG00000094804	ENST00000209728	T	0.22945	1.93	6.16	6.16	0.99307	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.045148	0.85682	D	0.000000	T	0.27663	0.0680	L	0.31420	0.93	0.58432	D	0.999999	B	0.26318	0.146	B	0.34590	0.186	T	0.02758	-1.1114	10	0.41790	T	0.15	-11.7389	19.6313	0.95704	0.0:0.0:1.0:0.0	.	218	Q99741	CDC6_HUMAN	H	218	ENSP00000209728:D218H	ENSP00000209728:D218H	D	+	1	0	CDC6	35701438	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	6.334000	0.72944	2.937000	0.99478	0.650000	0.86243	GAC		0.388	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1				20	38	0	0	0	0.010504	0	20	38		
KAT2A	2648	broad.mit.edu	37	17	40265686	40265686	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:40265686C>G	ENST00000225916.5	-	18	2548	c.2495G>C	c.(2494-2496)gGa>gCa	p.G832A	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	832					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)	p.G832A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AATGAGGCCTCCCTCCTTGAG	0.607																																						uc002hyx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(2494-2496)GGA>GCA		general control of amino acid synthesis 5-like							39.0	37.0	38.0					17																	40265686		2196	4282	6478	SO:0001583	missense	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40265686C>G	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2495G>C	17.37:g.40265686C>G	ENSP00000225916:p.Gly832Ala					DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	p.G832A	NM_021078	NP_066564	Q92830	KAT2A_HUMAN			18	2555	-			832					Q8N1A2|Q9UCW1	Missense_Mutation	SNP	ENST00000225916.5	37	c.2495G>C	CCDS11417.1	.	.	.	.	.	.	.	.	.	.	C	2.643	-0.283702	0.05642	.	.	ENSG00000108773	ENST00000225916	T	0.04119	3.7	5.03	4.03	0.46877	Bromodomain (1);	0.128667	0.51477	D	0.000100	T	0.02119	0.0066	N	0.01668	-0.77	0.41984	D	0.99081	B	0.02656	0.0	B	0.01281	0.0	T	0.51710	-0.8671	10	0.17369	T	0.5	-13.7839	13.7528	0.62917	0.0:0.7057:0.2943:0.0	.	832	Q92830	KAT2A_HUMAN	A	832	ENSP00000225916:G832A	ENSP00000225916:G832A	G	-	2	0	KAT2A	37519212	0.948000	0.32251	0.943000	0.38184	0.993000	0.82548	2.025000	0.41059	1.082000	0.41137	0.556000	0.70494	GGA		0.607	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1		NM_021078		8	48	0	0	0	0.006214	0	8	48		
PTRF	284119	broad.mit.edu	37	17	40556890	40556890	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:40556890C>T	ENST00000357037.5	-	2	1407	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_012232.5	NP_036364.2			polymerase I and transcript release factor									p.E330K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		ACCTGGCCCTCGCGGATCTTC	0.687																																						uc002hzo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(988-990)GAG>AAG		polymerase I and transcript release factor							73.0	65.0	68.0					17																	40556890		2203	4300	6503	SO:0001583	missense	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40556890C>T	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.988G>A	17.37:g.40556890C>T	ENSP00000349541:p.Glu330Lys					PTRF_uc010wgi.1_Missense_Mutation_p.E312K	p.E330K	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1147	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	330						Missense_Mutation	SNP	ENST00000357037.5	37	c.988G>A	CCDS11425.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908259	0.92107	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.62788	0.0	4.73	4.73	0.59995	.	0.059463	0.64402	D	0.000003	T	0.68247	0.2980	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.59767	0.986;0.986	P;P	0.52627	0.704;0.704	T	0.65520	-0.6148	10	0.24483	T	0.36	-32.0542	17.8979	0.88895	0.0:1.0:0.0:0.0	.	312;330	B4DNU9;Q6NZI2	.;PTRF_HUMAN	K	330;285	ENSP00000349541:E330K	ENSP00000349541:E330K	E	-	1	0	PTRF	37810416	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.892000	0.69790	2.445000	0.82738	0.557000	0.71058	GAG		0.687	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1		NM_012232		15	46	0	0	0	0.003163	0	15	46		
DHX8	1659	broad.mit.edu	37	17	41599484	41599484	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:41599484C>G	ENST00000262415.3	+	22	3405	c.3333C>G	c.(3331-3333)ttC>ttG	p.F1111L	DHX8_ENST00000540306.1_Missense_Mutation_p.F1111L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1111					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.F1111L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCAGTGGGTTCTTCCGTAATG	0.517																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)|pancreas(1)	4						c.(3331-3333)TTC>TTG		DEAH (Asp-Glu-Ala-His) box polypeptide 8							129.0	122.0	124.0					17																	41599484		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41599484C>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.3333C>G	17.37:g.41599484C>G	ENSP00000262415:p.Phe1111Leu					DHX8_uc010wig.1_Missense_Mutation_p.F1111L	p.F1111L	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	22	3406	+		Breast(137;0.00908)	1111						Missense_Mutation	SNP	ENST00000262415.3	37	c.3333C>G	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897208	0.91962	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03524	3.9;3.99	5.8	4.84	0.62591	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	M	0.65320	2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.95;0.987	T	0.00284	-1.1848	10	0.87932	D	0	.	9.8625	0.41123	0.0:0.8474:0.0:0.1526	.	1111;1111	F5H658;Q14562	.;DHX8_HUMAN	L	1111	ENSP00000437886:F1111L;ENSP00000262415:F1111L	ENSP00000262415:F1111L	F	+	3	2	DHX8	38955010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.981000	0.63819	1.453000	0.47775	0.655000	0.94253	TTC		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1				82	52	0	0	0	0.00361	0	82	52		
FMNL1	752	broad.mit.edu	37	17	43323891	43323891	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:43323891C>T	ENST00000331495.3	+	26	3567	c.3231C>T	c.(3229-3231)ttC>ttT	p.F1077F	MAP3K14-AS1_ENST00000588698.1_RNA|FMNL1_ENST00000587489.1_Intron|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|CTD-2020K17.4_ENST00000589518.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Intron	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1077	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)	p.F1077F(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGTGCCCTTCACGGCCCGCA	0.582											OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(164;1247 1997 8702 11086 51972)	uc002iin.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	pancreas(1)	1						c.(3229-3231)TTC>TTT		formin-like 1							41.0	42.0	42.0					17																	43323891		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43323891C>T	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.3231C>T	17.37:g.43323891C>T			OREG0024478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	915	FMNL1_uc002iiq.2_Intron|FMNL1_uc010dag.2_Intron|LOC100133991_uc010dah.2_5'Flank	p.F1077F	NM_005892	NP_005883	O95466	FMNL_HUMAN			26	3431	+			1077			DAD.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.3231C>T	CCDS11497.1																																																																																				0.582	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1		NM_005892		18	42	0	0	0	0.008871	0	18	42		
PNPO	55163	broad.mit.edu	37	17	46023710	46023710	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:46023710G>A	ENST00000225573.4	+	6	673	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	RP11-6N17.6_ENST00000580372.1_RNA|PNPO_ENST00000544840.1_Missense_Mutation_p.E172K|PNPO_ENST00000434554.2_Missense_Mutation_p.E147K|RP11-6N17.6_ENST00000582142.1_RNA|RP11-6N17.9_ENST00000582262.1_RNA|PNPO_ENST00000534893.1_Missense_Mutation_p.E95K	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	190					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)	p.E190K(1)		endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						GAAAAATGAGGAACTGGAACA	0.493																																						uc002imo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(568-570)GAA>AAA		pyridoxine 5'-phosphate oxidase	Pyridoxal Phosphate(DB00114)						81.0	83.0	82.0					17																	46023710		2203	4300	6503	SO:0001583	missense	55163				pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity	g.chr17:46023710G>A	AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.568G>A	17.37:g.46023710G>A	ENSP00000225573:p.Glu190Lys					PNPO_uc010wkz.1_Missense_Mutation_p.E172K|PNPO_uc010wla.1_Missense_Mutation_p.E95K|PNPO_uc010wlb.1_Missense_Mutation_p.E147K	p.E190K	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN			6	721	+			190					B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	ENST00000225573.4	37	c.568G>A	CCDS11522.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468485	0.84533	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.43	5.43	0.79202	FMN-binding split barrel-related (1);FMN-binding split barrel (1);	0.000000	0.85682	D	0.000000	T	0.80265	0.4591	M	0.64080	1.96	0.80722	D	1	D;B;D	0.61080	0.966;0.242;0.989	B;B;P	0.47981	0.395;0.09;0.563	T	0.80652	-0.1287	10	0.41790	T	0.15	-8.8011	17.9949	0.89179	0.0:0.0:1.0:0.0	.	147;172;190	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	K	190;147;172;95	ENSP00000225573:E190K;ENSP00000399960:E147K;ENSP00000446182:E172K;ENSP00000437480:E95K	ENSP00000225573:E190K	E	+	1	0	PNPO	43378709	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.780000	0.91799	2.554000	0.86153	0.561000	0.74099	GAA		0.493	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441407.1		NM_018129		3	34	0	0	0	0.009096	0	3	34		
UBE2Z	65264	broad.mit.edu	37	17	47004453	47004453	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:47004453C>T	ENST00000360943.5	+	7	1157	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	341					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.S233L(1)									GATAGCAGTTCATCTGGGACA	0.537																																						uc002ioi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1021-1023)TCA>TTA		ubiquitin-conjugating enzyme E2Z							82.0	72.0	75.0					17																	47004453		2203	4300	6503	SO:0001583	missense	65264				apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity	g.chr17:47004453C>T	BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"""Ubiquitin-conjugating enzymes E2"""	25847	protein-coding gene	gene with protein product	"""UBA6-specific enzyme E2"""	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.1022C>T	17.37:g.47004453C>T	ENSP00000354201:p.Ser341Leu						p.S341L	NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN			7	1121	+			341					A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	ENST00000360943.5	37	c.1022C>T	CCDS11540.2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764377	0.89932	.	.	ENSG00000159202	ENST00000360943;ENST00000405215	T	0.77620	-1.11	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83087	0.5178	M	0.65975	2.015	0.80722	D	1	D	0.57257	0.979	P	0.51777	0.679	T	0.82557	-0.0398	10	0.44086	T	0.13	-18.7034	19.2517	0.93926	0.0:1.0:0.0:0.0	.	341	Q9H832	UBE2Z_HUMAN	L	341;274	ENSP00000354201:S341L	ENSP00000354201:S341L	S	+	2	0	UBE2Z	44359452	1.000000	0.71417	0.969000	0.41365	0.994000	0.84299	7.222000	0.78025	2.880000	0.98712	0.650000	0.86243	TCA		0.537	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318724.2		NM_023079		4	29	0	0	0	0.000602	0	4	29		
ABCC3	8714	broad.mit.edu	37	17	48745049	48745049	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:48745049C>G	ENST00000285238.8	+	12	1646	c.1566C>G	c.(1564-1566)ctC>ctG	p.L522L	ABCC3_ENST00000427699.1_Silent_p.L522L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	522	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L522L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AGGGTGAGCTCCAGCTGCTGC	0.632																																						uc002isl.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(3)|central_nervous_system(1)	4						c.(1564-1566)CTC>CTG		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						72.0	58.0	63.0					17																	48745049		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48745049C>G	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1566C>G	17.37:g.48745049C>G						ABCC3_uc002isk.3_Silent_p.L522L	p.L522L	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		12	1646	+			522			ABC transmembrane type-1 1.|Cytoplasmic (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.1566C>G	CCDS32681.1																																																																																				0.632	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2		NM_020038		5	46	0	0	0	0.001168	0	5	46		
MBTD1	54799	broad.mit.edu	37	17	49280217	49280217	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:49280217C>T	ENST00000586178.1	-	10	1251	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	MBTD1_ENST00000376381.2_Missense_Mutation_p.R303Q|MBTD1_ENST00000415868.1_Missense_Mutation_p.R303Q	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	303					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.R139Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CACTGCTACTCGTGTTCGACA	0.408																																						uc002itr.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(907-909)CGA>CAA		mbt domain containing 1							315.0	287.0	296.0					17																	49280217		2203	4300	6503	SO:0001583	missense	54799				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49280217C>T	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.908G>A	17.37:g.49280217C>T	ENSP00000468304:p.Arg303Gln					MBTD1_uc002itp.3_Missense_Mutation_p.R139Q|MBTD1_uc002itq.3_Missense_Mutation_p.R303Q	p.R303Q	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		10	1252	-			303			MBT 2.		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.908G>A	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	c	27.0	4.795325	0.90453	.	.	ENSG00000011258	ENST00000405860;ENST00000415868;ENST00000376381	T;T	0.31510	1.49;1.49	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.969	T	0.64567	-0.6377	10	0.26408	T	0.33	.	18.0588	0.89371	0.0:1.0:0.0:0.0	.	303;303;139	Q05BQ5;Q05BQ5-2;Q05BQ5-3	MBTD1_HUMAN;.;.	Q	303	ENSP00000403946:R303Q;ENSP00000365561:R303Q	ENSP00000365561:R303Q	R	-	2	0	MBTD1	46635216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.275000	0.75901	0.645000	0.84053	CGA		0.408	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1				37	185	0	0	0	0.005524	0	37	185		
TRIM37	4591	broad.mit.edu	37	17	57089713	57089713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:57089713C>A	ENST00000262294.7	-	22	2930	c.2671G>T	c.(2671-2673)Gga>Tga	p.G891*	TRIM37_ENST00000393065.2_Nonsense_Mutation_p.G857*|TRIM37_ENST00000376149.3_Nonsense_Mutation_p.G769*|TRIM37_ENST00000393066.3_Nonsense_Mutation_p.G891*	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	891					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G891*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTGAAGCTCCTTCAGGTAGT	0.443									Mulibrey Nanism																													uc002iwy.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7						c.(2671-2673)GGA>TGA		tripartite motif-containing 37 protein							89.0	89.0	89.0					17																	57089713		2203	4300	6503	SO:0001587	stop_gained	4591	Mulibrey_Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57089713C>A	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2671G>T	17.37:g.57089713C>A	ENSP00000262294:p.Gly891*					TRIM37_uc002iwz.3_Nonsense_Mutation_p.G891*|TRIM37_uc002ixa.3_Nonsense_Mutation_p.G769*|TRIM37_uc010woc.1_Nonsense_Mutation_p.G857*	p.G891*	NM_001005207	NP_001005207	O94972	TRI37_HUMAN			22	3115	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		891					Q7Z3E6|Q8IYF7|Q8WYF7	Nonsense_Mutation	SNP	ENST00000262294.7	37	c.2671G>T	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494298	0.96339	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	.	.	.	5.86	5.86	0.93980	.	0.072091	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.4328	19.797	0.96490	0.0:1.0:0.0:0.0	.	.	.	.	X	891;891;769;857	.	ENSP00000262294:G891X	G	-	1	0	TRIM37	54444495	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.017000	0.64047	2.776000	0.95493	0.655000	0.94253	GGA		0.443	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1		NM_015294		13	75	1	0	3.45872e-05	0.004007	3.57798e-05	13	75		
KPNA2	3838	broad.mit.edu	37	17	66042657	66042657	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:66042657C>G	ENST00000537025.2	+	11	2155	c.1535C>G	c.(1534-1536)tCt>tGt	p.S512C	KPNA2_ENST00000330459.3_Missense_Mutation_p.S512C|KPNA2_ENST00000582898.1_3'UTR			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	512					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.S512C(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAAACTACCTCTGAAGGCTAC	0.373																																						uc002jgk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(1534-1536)TCT>TGT		karyopherin alpha 2							83.0	84.0	84.0					17																	66042657		2203	4296	6499	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66042657C>G	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1535C>G	17.37:g.66042657C>G	ENSP00000438483:p.Ser512Cys					KPNA2_uc002jgl.2_Missense_Mutation_p.S512C	p.S512C	NM_002266	NP_002257	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	1667	+	all_cancers(12;1.18e-09)		512					B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.1535C>G	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929962	0.52759	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.32988	1.43;1.43	5.33	5.33	0.75918	.	0.277012	0.34603	U	0.003830	T	0.39200	0.1069	M	0.62723	1.935	0.41088	D	0.985576	P	0.40302	0.712	B	0.41299	0.353	T	0.37753	-0.9692	10	0.62326	D	0.03	.	19.0744	0.93154	0.0:1.0:0.0:0.0	.	512	P52292	IMA2_HUMAN	C	512	ENSP00000332455:S512C;ENSP00000438483:S512C	ENSP00000332455:S512C	S	+	2	0	KPNA2	63473119	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.486000	0.53215	2.497000	0.84241	0.461000	0.40582	TCT		0.373	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1		NM_002266		9	71	0	0	0	0.008291	0	9	71		
KPNA2	3838	broad.mit.edu	37	17	66042674	66042674	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:66042674C>A	ENST00000537025.2	+	11	2172	c.1552C>A	c.(1552-1554)Caa>Aaa	p.Q518K	KPNA2_ENST00000330459.3_Missense_Mutation_p.Q518K|KPNA2_ENST00000582898.1_3'UTR			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	518					cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.Q518K(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTACACTTTCCAAGTTCAGGA	0.343																																						uc002jgk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(1552-1554)CAA>AAA		karyopherin alpha 2							81.0	83.0	82.0					17																	66042674		2203	4296	6499	SO:0001583	missense	3838				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	g.chr17:66042674C>A	U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.1552C>A	17.37:g.66042674C>A	ENSP00000438483:p.Gln518Lys					KPNA2_uc002jgl.2_Missense_Mutation_p.Q518K	p.Q518K	NM_002266	NP_002257	P52292	IMA2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		11	1684	+	all_cancers(12;1.18e-09)		518					B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	ENST00000537025.2	37	c.1552C>A	CCDS32713.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100376	0.56183	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.30714	1.52;1.52	5.33	5.33	0.75918	.	0.131901	0.51477	U	0.000087	T	0.33059	0.0850	L	0.49699	1.58	0.58432	D	0.999997	B	0.17465	0.022	B	0.16289	0.015	T	0.05835	-1.0861	10	0.42905	T	0.14	.	19.0744	0.93154	0.0:1.0:0.0:0.0	.	518	P52292	IMA2_HUMAN	K	518	ENSP00000332455:Q518K;ENSP00000438483:Q518K	ENSP00000332455:Q518K	Q	+	1	0	KPNA2	63473136	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.356000	0.73046	2.497000	0.84241	0.461000	0.40582	CAA		0.343	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448111.1		NM_002266		12	78	1	0	7.03913e-09	0.001368	7.44938e-09	12	78		
KCNJ16	3773	broad.mit.edu	37	17	68128891	68128891	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:68128891C>G	ENST00000589377.1	+	2	826	c.663C>G	c.(661-663)ctC>ctG	p.L221L	KCNJ16_ENST00000586462.1_Silent_p.L260L|KCNJ16_ENST00000392670.1_Silent_p.L221L|KCNJ16_ENST00000283936.1_Silent_p.L221L|KCNJ16_ENST00000585558.1_Silent_p.L256L|KCNJ16_ENST00000392671.1_Silent_p.L221L	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	221					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.L221L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCCAACTTCTCCGCTATACAG	0.473																																						uc002jin.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(661-663)CTC>CTG		potassium inwardly-rectifying channel J16							70.0	63.0	65.0					17																	68128891		2203	4300	6503	SO:0001819	synonymous_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128891C>G	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.663C>G	17.37:g.68128891C>G						KCNJ16_uc002jio.2_Silent_p.L221L|KCNJ16_uc002jip.2_Silent_p.L221L|KCNJ16_uc002jiq.2_Silent_p.L253L	p.L221L	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	1149	+	Breast(10;2.96e-09)		221			Cytoplasmic (By similarity).			Silent	SNP	ENST00000589377.1	37	c.663C>G	CCDS11687.1																																																																																				0.473	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1		NM_018658		9	51	0	0	0	0.006214	0	9	51		
KCNJ16	3773	broad.mit.edu	37	17	68129403	68129403	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:68129403C>T	ENST00000589377.1	+	2	1338	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	KCNJ16_ENST00000586462.1_Missense_Mutation_p.S431F|KCNJ16_ENST00000392670.1_Missense_Mutation_p.S392F|KCNJ16_ENST00000283936.1_Missense_Mutation_p.S392F|KCNJ16_ENST00000585558.1_Missense_Mutation_p.S427F|KCNJ16_ENST00000392671.1_Missense_Mutation_p.S392F	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	392					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.S392F(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCACCACTTCCGCCACACAT	0.458																																						uc002jin.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1174-1176)TCC>TTC		potassium inwardly-rectifying channel J16							91.0	80.0	84.0					17																	68129403		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129403C>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.1175C>T	17.37:g.68129403C>T	ENSP00000465967:p.Ser392Phe					KCNJ16_uc002jio.2_Missense_Mutation_p.S392F|KCNJ16_uc002jip.2_Missense_Mutation_p.S392F|KCNJ16_uc002jiq.2_Missense_Mutation_p.S424F	p.S392F	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	1661	+	Breast(10;2.96e-09)		392			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000589377.1	37	c.1175C>T	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	C	4.364	0.067018	0.08388	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.89270	-2.49;-2.49;-2.49	5.8	4.81	0.61882	.	1.408510	0.04729	N	0.420830	T	0.81202	0.4773	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.65813	-0.6077	9	.	.	.	.	9.1603	0.37019	0.0:0.7737:0.1487:0.0775	.	392;392	A8K434;Q9NPI9	.;IRK16_HUMAN	F	392	ENSP00000283936:S392F;ENSP00000376439:S392F;ENSP00000376438:S392F	.	S	+	2	0	KCNJ16	65640998	0.105000	0.21958	0.016000	0.15963	0.010000	0.07245	2.559000	0.45888	1.390000	0.46547	0.591000	0.81541	TCC		0.458	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1		NM_018658		5	55	0	0	0	0.001168	0	5	55		
NUP85	79902	broad.mit.edu	37	17	73205991	73205991	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73205991C>T	ENST00000245544.4	+	3	272	c.201C>T	c.(199-201)atC>atT	p.I67I	NUP85_ENST00000579298.1_Silent_p.I67I|NUP85_ENST00000541827.1_Silent_p.I21I|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579324.1_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	67					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.I67I(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ACTCTCAAATCTTGAGAAAAC	0.368																																						uc002jng.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(199-201)ATC>ATT		nucleoporin 85							75.0	80.0	78.0					17																	73205991		2203	4300	6503	SO:0001819	synonymous_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73205991C>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.201C>T	17.37:g.73205991C>T						NUP85_uc010dgd.1_Silent_p.I67I|NUP85_uc010wrv.1_Silent_p.I21I	p.I67I	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		3	461	+	all_lung(278;0.14)|Lung NSC(278;0.168)		67					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	c.201C>T	CCDS32730.1																																																																																				0.368	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1		NM_024844		9	69	0	0	0	0.008291	0	9	69		
LLGL2	3993	broad.mit.edu	37	17	73554290	73554290	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73554290G>A	ENST00000392550.3	+	4	345	c.228G>A	c.(226-228)gtG>gtA	p.V76V	LLGL2_ENST00000577200.1_Silent_p.V76V|LLGL2_ENST00000578363.1_Silent_p.V76V|LLGL2_ENST00000375227.4_Silent_p.V76V|LLGL2_ENST00000167462.5_Silent_p.V76V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	76					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.V76V(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACAACGCTGTGACGCAGATCC	0.632																																						uc002joh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)	2						c.(226-228)GTG>GTA		lethal giant larvae homolog 2 isoform c							104.0	100.0	101.0					17																	73554290		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73554290G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.228G>A	17.37:g.73554290G>A						LLGL2_uc002jog.1_Silent_p.V76V|LLGL2_uc010dgf.1_Silent_p.V76V|LLGL2_uc002joi.2_Silent_p.V76V|LLGL2_uc010dgg.1_Silent_p.V76V|LLGL2_uc002joj.2_Silent_p.V65V	p.V76V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		4	382	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		76			WD 2.		Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.228G>A	CCDS32733.1																																																																																				0.632	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		NM_004524		18	123	0	0	0	0.008871	0	18	123		
RECQL5	9400	broad.mit.edu	37	17	73623508	73623508	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73623508C>G	ENST00000317905.5	-	20	3129	c.2970G>C	c.(2968-2970)caG>caC	p.Q990H	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.Q963H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	990					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.Q963H(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TTGGTCATCTCTGGGGGCCAC	0.622								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(3)	3						c.(2968-2970)CAG>CAC	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							64.0	73.0	70.0					17																	73623508		2017	4171	6188	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73623508C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2970G>C	17.37:g.73623508C>G	ENSP00000317636:p.Gln990His					RECQL5_uc010dgk.2_Missense_Mutation_p.Q963H|RECQL5_uc002jot.3_Missense_Mutation_p.Q186H	p.Q990H	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	3126	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		990					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2970G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	6.771	0.511259	0.12883	.	.	ENSG00000108469	ENST00000443199;ENST00000317905	T	0.60548	0.18	5.09	4.06	0.47325	.	0.700616	0.13685	N	0.369932	T	0.64638	0.2616	L	0.51422	1.61	0.18873	N	0.999982	P;P;D	0.59767	0.952;0.952;0.986	P;P;P	0.59288	0.598;0.598;0.855	T	0.54629	-0.8265	10	0.66056	D	0.02	-0.1682	9.5078	0.39058	0.0:0.7766:0.145:0.0784	.	990;963;186	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	H	585;990	ENSP00000317636:Q990H	ENSP00000317636:Q990H	Q	-	3	2	RECQL5	71135103	0.981000	0.34729	0.935000	0.37517	0.342000	0.28953	0.466000	0.22019	2.378000	0.81104	0.462000	0.41574	CAG		0.622	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		18	118	0	0	0	0.007413	0	18	118		
RECQL5	9400	broad.mit.edu	37	17	73623520	73623520	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73623520C>T	ENST00000317905.5	-	20	3117	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.L959L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	986					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.L959L(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGGGCCACACAGGCCATGCC	0.632								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(3)	3						c.(2956-2958)CTG>CTA	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							66.0	76.0	73.0					17																	73623520		2033	4179	6212	SO:0001819	synonymous_variant	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73623520C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2958G>A	17.37:g.73623520C>T						RECQL5_uc010dgk.2_Silent_p.L959L|RECQL5_uc002jot.3_Silent_p.L182L	p.L986L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	3114	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		986					Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	ENST00000317905.5	37	c.2958G>A	CCDS42380.1																																																																																				0.632	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		21	126	0	0	0	0.012319	0	21	126		
RECQL5	9400	broad.mit.edu	37	17	73624402	73624402	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73624402C>G	ENST00000317905.5	-	18	2860	c.2701G>C	c.(2701-2703)Gac>Cac	p.D901H	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.D874H	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	901					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.D874H(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGAAGGGGTCTTGAGCCGTG	0.602								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(3)	3						c.(2701-2703)GAC>CAC	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							80.0	96.0	91.0					17																	73624402		2083	4213	6296	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73624402C>G	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2701G>C	17.37:g.73624402C>G	ENSP00000317636:p.Asp901His					RECQL5_uc010dgk.2_Missense_Mutation_p.D874H|RECQL5_uc002jot.3_Missense_Mutation_p.D97H	p.D901H	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		18	2857	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		901					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2701G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699583	0.30142	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.57273	0.41	5.38	4.39	0.52855	.	1.314610	0.05117	N	0.489946	T	0.54791	0.1880	N	0.22421	0.69	0.35536	D	0.802678	P;P;P	0.48503	0.479;0.479;0.911	B;B;P	0.50192	0.081;0.081;0.634	T	0.48980	-0.8986	10	0.46703	T	0.11	-0.0016	14.9797	0.71303	0.0:0.8566:0.1434:0.0	.	901;874;97	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	H	496;901;901	ENSP00000317636:D901H	ENSP00000317636:D901H	D	-	1	0	RECQL5	71135997	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	0.655000	0.24933	1.223000	0.43536	0.563000	0.77884	GAC		0.602	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		16	103	0	0	0	0.00499	0	16	103		
RECQL5	9400	broad.mit.edu	37	17	73624837	73624837	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73624837C>T	ENST00000317905.5	-	17	2654	c.2495G>A	c.(2494-2496)tGc>tAc	p.C832Y	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.C805Y	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	832					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.C805Y(2)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTGGGCGGGCAGGTGCTGGT	0.652								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	kidney(3)	3						c.(2494-2496)TGC>TAC	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							63.0	68.0	66.0					17																	73624837		2035	4202	6237	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73624837C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2495G>A	17.37:g.73624837C>T	ENSP00000317636:p.Cys832Tyr					RECQL5_uc010dgk.2_Missense_Mutation_p.C805Y|RECQL5_uc002jot.3_Missense_Mutation_p.C28Y	p.C832Y	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		17	2651	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		832					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2495G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	1.330	-0.596968	0.03771	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.55930	0.49	4.75	0.224	0.15297	.	1.024380	0.07764	N	0.950569	T	0.31451	0.0797	L	0.31294	0.92	0.09310	N	0.999993	B;B;B	0.12630	0.003;0.006;0.004	B;B;B	0.10450	0.002;0.002;0.005	T	0.25916	-1.0118	10	0.02654	T	1	-1.0671	4.1248	0.10123	0.0:0.5117:0.1904:0.2979	.	832;805;28	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	Y	427;832;832	ENSP00000317636:C832Y	ENSP00000317636:C832Y	C	-	2	0	RECQL5	71136432	0.022000	0.18835	0.003000	0.11579	0.017000	0.09413	-0.223000	0.09177	0.230000	0.21059	0.563000	0.77884	TGC		0.652	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		7	42	0	0	0	0.00308	0	7	42		
RECQL5	9400	broad.mit.edu	37	17	73625129	73625129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:73625129C>T	ENST00000317905.5	-	16	2533	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.E765K	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	792					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.E765K(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGAACCCCCTCACAGGAGGGG	0.642								Other identified genes with known or suspected DNA repair function																														uc010dgl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(3)	3						c.(2374-2376)GAG>AAG	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							35.0	36.0	36.0					17																	73625129		1884	4109	5993	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73625129C>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2374G>A	17.37:g.73625129C>T	ENSP00000317636:p.Glu792Lys					RECQL5_uc010dgk.2_Missense_Mutation_p.E765K|RECQL5_uc002jot.3_5'Flank	p.E792K	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		16	2530	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		792					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2374G>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170076	0.38315	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.49139	0.79	4.54	3.56	0.40772	RecQ helicase-like 5 (2);	2.518600	0.01033	N	0.004166	T	0.38612	0.1047	L	0.43152	1.355	0.09310	N	0.999999	P;P	0.35226	0.491;0.491	B;B	0.34652	0.131;0.187	T	0.31024	-0.9958	10	0.09338	T	0.73	-0.7175	4.2479	0.10680	0.0:0.6048:0.2114:0.1838	.	792;765	O94762;Q6P4G0	RECQ5_HUMAN;.	K	387;792;792	ENSP00000317636:E792K	ENSP00000317636:E792K	E	-	1	0	RECQL5	71136724	0.109000	0.22037	0.005000	0.12908	0.384000	0.30261	0.252000	0.18278	1.120000	0.41904	0.655000	0.94253	GAG		0.642	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259		6	53	0	0	0	0.001168	0	6	53		
GALR2	8811	broad.mit.edu	37	17	74071212	74071212	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:74071212C>T	ENST00000329003.3	+	1	338	c.248C>T	c.(247-249)gCc>gTc	p.A83V	SRP68_ENST00000355113.5_5'Flank|SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	83					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)	p.A83V(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCCTTCCAGGCCACCATCTAC	0.632																																						uc002jqm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(247-249)GCC>GTC		galanin receptor 2							142.0	93.0	110.0					17																	74071212		2203	4300	6503	SO:0001583	missense	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74071212C>T	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.248C>T	17.37:g.74071212C>T	ENSP00000329684:p.Ala83Val					SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	p.A83V	NM_003857	NP_003848	O43603	GALR2_HUMAN			1	329	+			83			Extracellular (Potential).		A5JUU4|Q32MN8	Missense_Mutation	SNP	ENST00000329003.3	37	c.248C>T	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581504	0.86748	.	.	ENSG00000182687	ENST00000329003	T	0.36878	1.23	3.54	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.076788	0.50627	N	0.000118	T	0.51550	0.1681	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.47812	-0.9088	10	0.45353	T	0.12	.	10.4351	0.44430	0.0:0.9011:0.0:0.0989	.	83	O43603	GALR2_HUMAN	V	83	ENSP00000329684:A83V	ENSP00000329684:A83V	A	+	2	0	GALR2	71582807	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.588000	0.67517	0.840000	0.34995	0.462000	0.41574	GCC		0.632	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1				11	77	0	0	0	0.010729	0	11	77		
MGAT5B	146664	broad.mit.edu	37	17	74901357	74901357	+	Missense_Mutation	SNP	C	C	T	rs553528918		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:74901357C>T	ENST00000569840.2	+	7	1371	c.797C>T	c.(796-798)gCg>gTg	p.A266V	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.A277V|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A266V	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	266					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.A266V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCAGTGGGCGCTGGCTGCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		15900	0.001		0.0	False		,,,				2504	0.0					uc002jti.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(829-831)GCG>GTG		N-acetylglucosaminyltranferase VB isoform 2							26.0	30.0	29.0					17																	74901357		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74901357C>T	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.797C>T	17.37:g.74901357C>T	ENSP00000456037:p.Ala266Val					MGAT5B_uc002jth.2_Missense_Mutation_p.A266V	p.A277V	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			6	933	+			266			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.830C>T	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	C	0.228	-1.023582	0.02061	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.40756	1.03;1.02	5.22	4.22	0.49857	.	0.345140	0.29660	N	0.011526	T	0.23727	0.0574	N	0.20986	0.625	0.29586	N	0.848784	B;B	0.18461	0.028;0.028	B;B	0.12156	0.007;0.004	T	0.18272	-1.0342	10	0.13108	T	0.6	-12.1809	6.6363	0.22885	0.0:0.7026:0.0:0.2974	.	277;266	Q3V5L5-2;Q3V5L5-5	.;.	V	266;266;277	ENSP00000301618:A266V;ENSP00000391227:A277V	ENSP00000301618:A266V	A	+	2	0	MGAT5B	72412952	0.005000	0.15991	0.804000	0.32291	0.234000	0.25298	0.041000	0.13927	1.099000	0.41499	0.514000	0.50259	GCG		0.642	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2		NM_144677		9	37	0	0	0	0.010729	0	9	37		
CEP131	22994	broad.mit.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T	rs577025986		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000450824.2_Missense_Mutation_p.E920K|AZI1_ENST00000374782.3_Missense_Mutation_p.E884K|AZI1_ENST00000575907.1_Missense_Mutation_p.E887K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		923					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		13518	0.001		0.0	False		,,,				2504	0.0					uc002jzp.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(2767-2769)GAG>AAG		5-azacytidine induced 1 isoform a							51.0	56.0	54.0					17																	79165000		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79165000C>T																												ENST00000269392.4:c.2767G>A	17.37:g.79165000C>T	ENSP00000269392:p.Glu923Lys					AZI1_uc002jzm.1_Missense_Mutation_p.E355K|AZI1_uc002jzn.1_Missense_Mutation_p.E920K|AZI1_uc002jzo.1_Missense_Mutation_p.E884K|AZI1_uc010wum.1_Missense_Mutation_p.E887K|AZI1_uc002jzq.2_Missense_Mutation_p.E71K	p.E923K	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		22	2967	-	all_neural(118;0.0804)|Melanoma(429;0.242)		923					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.2767G>A		.	.	.	.	.	.	.	.	.	.	C	17.97	3.519393	0.64634	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17213	2.29;2.34;2.29	5.15	4.18	0.49190	.	0.124400	0.52532	D	0.000062	T	0.34803	0.0910	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;0.973;0.973	P;D;B;B	0.67231	0.877;0.95;0.406;0.406	T	0.04178	-1.0971	10	0.27785	T	0.31	-20.5648	13.2217	0.59892	0.0:0.9231:0.0:0.0769	.	920;923;884;920	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	920;884;923	ENSP00000393583:E920K;ENSP00000363914:E884K;ENSP00000269392:E923K	ENSP00000269392:E923K	E	-	1	0	AZI1	76779595	1.000000	0.71417	0.796000	0.32109	0.024000	0.10985	7.355000	0.79434	1.161000	0.42604	0.591000	0.81541	GAG		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1				20	66	0	0	0	0.010504	0	20	66		
C17orf62	79415	broad.mit.edu	37	17	80401915	80401915	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:80401915C>T	ENST00000437807.2	-	8	846	c.529G>A	c.(529-531)Gac>Aac	p.D177N	C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000336995.7_Silent_p.A28A|C17orf62_ENST00000578919.1_Missense_Mutation_p.D177N|C17orf62_ENST00000585064.1_Missense_Mutation_p.D177N|C17orf62_ENST00000577732.1_Missense_Mutation_p.D177N|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000585080.1_Missense_Mutation_p.D177N|C17orf62_ENST00000434650.2_Missense_Mutation_p.D163N|C17orf62_ENST00000342572.8_Missense_Mutation_p.D53N|C17orf62_ENST00000577436.1_Missense_Mutation_p.D163N|C17orf62_ENST00000306645.5_Missense_Mutation_p.D177N	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	177						integral component of membrane (GO:0016021)		p.A66A(1)|p.D177N(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCTCACTGTCGCTGCTCTGA	0.652																																						uc002kez.2		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(2)		0						c.(529-531)GAC>AAC		hypothetical protein LOC79415 isoform a							105.0	100.0	102.0					17																	80401915		2203	4300	6503	SO:0001583	missense	79415					integral to membrane	protein binding	g.chr17:80401915C>T	AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.529G>A	17.37:g.80401915C>T	ENSP00000388909:p.Asp177Asn					C17orf62_uc002kex.2_Silent_p.A28A|C17orf62_uc002key.2_Silent_p.A28A|C17orf62_uc002kfa.2_Missense_Mutation_p.D177N|C17orf62_uc010dir.2_Missense_Mutation_p.D177N|C17orf62_uc002kfb.3_Missense_Mutation_p.D177N|C17orf62_uc002kfc.3_Missense_Mutation_p.D163N|C17orf62_uc002kfd.3_Silent_p.A28A|C17orf62_uc002kfe.3_Silent_p.A28A	p.D177N	NM_001100407	NP_001093877	Q9BQA9	CQ062_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		6	577	-	Breast(20;0.00106)|all_neural(118;0.0804)		177					E1B6X3|Q96NR1	Missense_Mutation	SNP	ENST00000437807.2	37	c.529G>A	CCDS32776.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214837	0.58452	.	.	ENSG00000178927	ENST00000437807;ENST00000306645;ENST00000434650	.	.	.	4.98	4.01	0.46588	.	.	.	.	.	T	0.64182	0.2575	M	0.62723	1.935	0.80722	D	1	P;D	0.59767	0.695;0.986	B;P	0.52627	0.177;0.704	T	0.68104	-0.5497	8	0.72032	D	0.01	.	12.4394	0.55617	0.0:0.9187:0.0:0.0813	.	163;177	E1B6X3;Q9BQA9	.;CQ062_HUMAN	N	177;177;163	.	ENSP00000307765:D177N	D	-	1	0	C17orf62	77995204	0.992000	0.36948	0.819000	0.32651	0.087000	0.18053	3.124000	0.50461	1.105000	0.41606	-0.258000	0.10820	GAC		0.652	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443260.1		NM_001033046		19	135	0	0	0	0.008871	0	19	135		
FN3K	64122	broad.mit.edu	37	17	80708353	80708353	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr17:80708353C>G	ENST00000300784.7	+	6	714	c.652C>G	c.(652-654)Ctc>Gtc	p.L218V	TBCD_ENST00000539345.2_5'Flank|TBCD_ENST00000355528.4_5'Flank|TBCD_ENST00000397466.2_5'Flank	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	218					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)	p.L218V(1)		central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CCACGGGGATCTCTGGTCGGG	0.567																																					Melanoma(10;391 597 14592 32548 32749)	uc010wvs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(652-654)CTC>GTC		fructosamine 3 kinase							131.0	117.0	122.0					17																	80708353		2203	4300	6503	SO:0001583	missense	64122				fructoselysine metabolic process		fructosamine-3-kinase activity	g.chr17:80708353C>G	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.652C>G	17.37:g.80708353C>G	ENSP00000300784:p.Leu218Val					TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank	p.L218V	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	713	+	Breast(20;0.000523)|all_neural(118;0.0952)		218						Missense_Mutation	SNP	ENST00000300784.7	37	c.652C>G	CCDS11818.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989983	0.54041	.	.	ENSG00000167363	ENST00000300784	T	0.65549	-0.16	4.4	4.4	0.53042	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83147	0.5191	H	0.95224	3.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.86635	0.1888	9	.	.	.	-24.8977	10.0845	0.42410	0.0:0.9064:0.0:0.0936	.	218	Q9H479	FN3K_HUMAN	V	218	ENSP00000300784:L218V	.	L	+	1	0	FN3K	78301642	0.916000	0.31088	1.000000	0.80357	0.274000	0.26718	1.478000	0.35442	2.163000	0.67991	0.585000	0.79938	CTC		0.567	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1		NM_022158		16	118	0	0	0	0.003163	0	16	118		
EMILIN2	84034	broad.mit.edu	37	18	2892402	2892402	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:2892402G>C	ENST00000254528.3	+	4	2436	c.2277G>C	c.(2275-2277)aaG>aaC	p.K759N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	759					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.K759N(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTGGCCTGAAGAATTCAGTCC	0.468																																						uc002kln.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(2275-2277)AAG>AAC		elastin microfibril interfacer 2 precursor							65.0	60.0	62.0					18																	2892402		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892402G>C	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2277G>C	18.37:g.2892402G>C	ENSP00000254528:p.Lys759Asn						p.K759N	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2436	+			759					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2277G>C	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628946	0.67015	.	.	ENSG00000132205	ENST00000254528	T	0.33654	1.4	5.47	3.34	0.38264	.	0.224065	0.38326	N	0.001726	T	0.51941	0.1704	M	0.71581	2.175	0.34958	D	0.751872	D	0.59357	0.985	P	0.61477	0.889	T	0.63629	-0.6594	10	0.36615	T	0.2	-28.1167	11.3403	0.49529	0.2237:0.0:0.7763:0.0	.	759	Q9BXX0	EMIL2_HUMAN	N	759	ENSP00000254528:K759N	ENSP00000254528:K759N	K	+	3	2	EMILIN2	2882402	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	1.563000	0.36364	1.303000	0.44873	0.557000	0.71058	AAG		0.468	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2		NM_032048		14	48	0	0	0	0.001855	0	14	48		
LAMA1	284217	broad.mit.edu	37	18	7024444	7024444	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:7024444G>C	ENST00000389658.3	-	18	2517	c.2424C>G	c.(2422-2424)ctC>ctG	p.L808L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	808	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.L808L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTCCATCATTGAGGTGGCAGG	0.438																																						uc002knm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(2422-2424)CTC>CTG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						56.0	48.0	51.0					18																	7024444		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7024444G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2424C>G	18.37:g.7024444G>C						LAMA1_uc010wzj.1_Silent_p.L284L	p.L808L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			18	2518	-		Colorectal(10;0.172)	808			Laminin EGF-like 7.			Silent	SNP	ENST00000389658.3	37	c.2424C>G	CCDS32787.1																																																																																				0.438	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1		NM_005559		3	17	0	0	0	0.009096	0	3	17		
MOCOS	55034	broad.mit.edu	37	18	33780103	33780103	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:33780103C>T	ENST00000261326.5	+	4	778	c.757C>T	c.(757-759)Cac>Tac	p.H253Y		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.H253Y(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCTGTCAGCTCACCAGGCCGA	0.587																																						uc002kzq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(757-759)CAC>TAC		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						79.0	73.0	75.0					18																	33780103		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33780103C>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.757C>T	18.37:g.33780103C>T	ENSP00000261326:p.His253Tyr						p.H253Y	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			4	780	+			253						Missense_Mutation	SNP	ENST00000261326.5	37	c.757C>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	C	0.677	-0.799720	0.02841	.	.	ENSG00000075643	ENST00000261326	T	0.28666	1.6	5.65	4.78	0.61160	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.157776	0.64402	N	0.000013	T	0.15132	0.0365	N	0.16233	0.39	0.30899	N	0.72954	B	0.06786	0.001	B	0.11329	0.006	T	0.23691	-1.0181	10	0.02654	T	1	-20.1746	9.0117	0.36146	0.0:0.8322:0.0:0.1678	.	253	Q96EN8	MOCOS_HUMAN	Y	253	ENSP00000261326:H253Y	ENSP00000261326:H253Y	H	+	1	0	MOCOS	32034101	0.955000	0.32602	0.875000	0.34327	0.243000	0.25628	2.058000	0.41374	1.387000	0.46486	0.561000	0.74099	CAC		0.587	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1				14	37	0	0	0	0.004007	0	14	37		
RBFA	79863	broad.mit.edu	37	18	77794586	77794586	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr18:77794586G>A	ENST00000306735.5	+	1	229	c.91G>A	c.(91-93)Gag>Aag	p.E31K	RBFA_ENST00000262197.7_Missense_Mutation_p.E31K|RP11-795F19.5_ENST00000569722.1_Missense_Mutation_p.E31K|RBFA_ENST00000586847.1_3'UTR|TXNL4A_ENST00000589926.1_5'Flank|TXNL4A_ENST00000585474.1_5'Flank|TXNL4A_ENST00000592957.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	31					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)		p.E31K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCCAGGCTGCGAGCGGGGACT	0.682																																						uc002lns.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(91-93)GAG>AAG		hypothetical protein LOC79863 precursor							25.0	29.0	28.0					18																	77794586		2203	4298	6501	SO:0001583	missense	79863				rRNA processing	mitochondrion		g.chr18:77794586G>A	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.91G>A	18.37:g.77794586G>A	ENSP00000305696:p.Glu31Lys					TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.E31K|C18orf22_uc010dri.1_RNA	p.E31K	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	1	229	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	31					Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	ENST00000306735.5	37	c.91G>A	CCDS12021.1	.	.	.	.	.	.	.	.	.	.	g	8.073	0.770772	0.15983	.	.	ENSG00000101546	ENST00000262197;ENST00000306735	T;T	0.46819	0.86;1.93	2.17	-0.285	0.12866	.	1.784510	0.03891	U	0.278740	T	0.22627	0.0546	N	0.08118	0	0.09310	N	1	B;B	0.29671	0.018;0.254	B;B	0.14578	0.007;0.011	T	0.08310	-1.0728	10	0.22109	T	0.4	-1.8719	3.5216	0.07744	0.0:0.2537:0.3801:0.3662	.	31;31	Q8N0V3-2;Q8N0V3	.;RBFA_HUMAN	K	31	ENSP00000262197:E31K;ENSP00000305696:E31K	ENSP00000262197:E31K	E	+	1	0	RBFA	75895574	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.484000	0.06528	-0.076000	0.12775	0.556000	0.70494	GAG		0.682	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2		NM_024805		11	17	0	0	0	0.010729	0	11	17		
RPS15	6209	broad.mit.edu	37	19	1440120	1440120	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:1440120G>A	ENST00000586686.2	+	3	231	c.192G>A	c.(190-192)aaG>aaA	p.K64K	RPS15_ENST00000591804.2_Silent_p.K31K|RPS15_ENST00000593052.1_Silent_p.K71K|AC027307.3_ENST00000594262.1_5'Flank|RPS15_ENST00000591032.1_Silent_p.K31K|RPS15_ENST00000589656.2_Silent_p.K64K|RPS15_ENST00000585665.1_Silent_p.K31K|RPS15_ENST00000233609.4_Silent_p.K37K|RPS15_ENST00000586096.2_Silent_p.K64K			P62841	RS15_HUMAN	ribosomal protein S15	64					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)|osteoblast differentiation (GO:0001649)|ribosomal small subunit biogenesis (GO:0042274)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.K64K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAAGGCCAAGAAGGAGGCGC	0.662																																					Ovarian(170;79 2680 5719 44260)	uc002lsp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(190-192)AAG>AAA		ribosomal protein S15							11.0	15.0	14.0					19																	1440120		2188	4283	6471	SO:0001819	synonymous_variant	6209				endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|protein binding|RNA binding	g.chr19:1440120G>A		CCDS12067.1	19p13.3	2012-12-20			ENSG00000115268	ENSG00000115268		"""S ribosomal proteins"""	10388	protein-coding gene	gene with protein product	"""40S ribosomal protein S15"", ""homolog of rat insulinoma"", ""insulinoma protein"""	180535				2159154	Standard	NM_001018		Approved	RIG, MGC111130, S15	uc002lsp.1	P62841	OTTHUMG00000140099	ENST00000586686.2:c.192G>A	19.37:g.1440120G>A						RPS15_uc002lsq.1_Silent_p.K71K	p.K64K	NM_001018	NP_001009	P62841	RS15_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)	3	254	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	64					A5D8V9|P11174|Q3KRA1|Q9UDC2	Silent	SNP	ENST00000586686.2	37	c.192G>A	CCDS12067.1																																																																																				0.662	RPS15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449609.4		NM_001018		3	12	0	0	0	0.004672	0	3	12		
DOT1L	84444	broad.mit.edu	37	19	2210632	2210632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210632G>T	ENST00000398665.3	+	14	1165	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	377					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)	p.E377*(2)		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)		CTCTGGTGCTGAGGAAGAGAA	0.632																																						uc002lvb.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1129-1131)GAG>TAG		DOT1-like, histone H3 methyltransferase							80.0	89.0	86.0					19																	2210632		1969	4146	6115	SO:0001587	stop_gained	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210632G>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.1129G>T	19.37:g.2210632G>T	ENSP00000381657:p.Glu377*					DOT1L_uc002lvc.1_5'Flank	p.E377*	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)	14	1165	+		Hepatocellular(1079;0.137)	377					O60379|Q96JL1	Nonsense_Mutation	SNP	ENST00000398665.3	37	c.1129G>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361586	0.82353	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-40.0792	17.1553	0.86790	0.0:0.0:1.0:0.0	.	.	.	.	X	377	.	ENSP00000221482:E377X	E	+	1	0	DOT1L	2161632	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	9.111000	0.94308	2.280000	0.76307	0.561000	0.74099	GAG		0.632	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		19	148	1	0	8.34094e-07	0.008871	8.7333e-07	19	148		
DOT1L	84444	broad.mit.edu	37	19	2210638	2210638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210638G>A	ENST00000398665.3	+	14	1171	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	379					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)	p.E379K(2)		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)		TGCTGAGGAAGAGAAGGCGGG	0.642																																						uc002lvb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1135-1137)GAG>AAG		DOT1-like, histone H3 methyltransferase							80.0	90.0	87.0					19																	2210638		1968	4141	6109	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210638G>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.1135G>A	19.37:g.2210638G>A	ENSP00000381657:p.Glu379Lys					DOT1L_uc002lvc.1_5'Flank	p.E379K	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)	14	1171	+		Hepatocellular(1079;0.137)	379					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1135G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030219	0.75504	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.27256	1.68	4.94	4.94	0.65067	.	0.221358	0.45606	D	0.000343	T	0.41719	0.1171	M	0.64997	1.995	0.52099	D	0.999948	D	0.56746	0.977	P	0.53401	0.725	T	0.41698	-0.9494	10	0.87932	D	0	-12.0553	17.1553	0.86790	0.0:0.0:1.0:0.0	.	379	Q8TEK3-2	.	K	379	ENSP00000381657:E379K	ENSP00000221482:E379K	E	+	1	0	DOT1L	2161638	1.000000	0.71417	0.366000	0.25914	0.091000	0.18340	9.111000	0.94308	2.280000	0.76307	0.561000	0.74099	GAG		0.642	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		20	151	0	0	0	0.010504	0	20	151		
DOT1L	84444	broad.mit.edu	37	19	2210754	2210754	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2210754G>A	ENST00000398665.3	+	14	1287	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	417					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)	p.M417I(2)		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)		CCAAGAAGATGAACACTGCGA	0.617																																						uc002lvb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1249-1251)ATG>ATA		DOT1-like, histone H3 methyltransferase							55.0	69.0	64.0					19																	2210754		2008	4158	6166	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210754G>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.1251G>A	19.37:g.2210754G>A	ENSP00000381657:p.Met417Ile					DOT1L_uc002lvc.1_5'Flank	p.M417I	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)	14	1287	+		Hepatocellular(1079;0.137)	417					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1251G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772049	0.49680	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.22336	1.96	4.84	4.84	0.62591	.	0.313762	0.39210	N	0.001436	T	0.26882	0.0658	L	0.56769	1.78	0.29480	N	0.856398	B	0.24368	0.102	B	0.27380	0.079	T	0.22661	-1.0210	10	0.87932	D	0	-19.9409	16.9353	0.86202	0.0:0.0:1.0:0.0	.	417	Q8TEK3-2	.	I	417	ENSP00000381657:M417I	ENSP00000221482:M417I	M	+	3	0	DOT1L	2161754	1.000000	0.71417	0.788000	0.31933	0.432000	0.31715	3.768000	0.55295	2.222000	0.72286	0.561000	0.74099	ATG		0.617	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		10	66	0	0	0	0.006214	0	10	66		
DOT1L	84444	broad.mit.edu	37	19	2213597	2213597	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2213597G>A	ENST00000398665.3	+	17	1653	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	539					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)	p.Q539Q(2)		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)		GCCAGGCCCAGAAGGAGGAGA	0.632																																						uc002lvb.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1615-1617)CAG>CAA		DOT1-like, histone H3 methyltransferase							55.0	60.0	58.0					19																	2213597		2018	4169	6187	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2213597G>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.1617G>A	19.37:g.2213597G>A						DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	p.Q539Q	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)	17	1653	+		Hepatocellular(1079;0.137)	539					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1617G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114073	0.20795	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.76	3.72	0.42706	.	.	.	.	.	T	0.62036	0.2395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58951	-0.7545	4	.	.	.	-23.8368	11.1691	0.48560	0.0919:0.0:0.9081:0.0	.	.	.	.	K	326	.	.	R	+	2	0	DOT1L	2164597	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.708000	0.47152	0.961000	0.38030	0.561000	0.74099	AGA		0.632	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		6	51	0	0	0	0.001984	0	6	51		
DOT1L	84444	broad.mit.edu	37	19	2213856	2213856	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2213856G>A	ENST00000398665.3	+	18	1704	c.1668G>A	c.(1666-1668)gtG>gtA	p.V556V	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	556					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)	p.V556V(2)		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)		AGCTGGGTGTGAAGGCGCTGA	0.642																																						uc002lvb.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1666-1668)GTG>GTA		DOT1-like, histone H3 methyltransferase							49.0	54.0	52.0					19																	2213856		2071	4202	6273	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2213856G>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.1668G>A	19.37:g.2213856G>A						DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	p.V556V	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	1704	+		Hepatocellular(1079;0.137)	556					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.1668G>A	CCDS42460.1																																																																																				0.642	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		8	66	0	0	0	0.00308	0	8	66		
DOT1L	84444	broad.mit.edu	37	19	2216484	2216484	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2216484G>A	ENST00000398665.3	+	20	2164	c.2128G>A	c.(2128-2130)Gag>Aag	p.E710K	DOT1L_ENST00000608122.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	710					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)	p.E710K(2)		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)		CATGAGCCCGGAGCTCTCCAT	0.672																																						uc002lvb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2128-2130)GAG>AAG		DOT1-like, histone H3 methyltransferase							37.0	42.0	40.0					19																	2216484		2099	4220	6319	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216484G>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.2128G>A	19.37:g.2216484G>A	ENSP00000381657:p.Glu710Lys					DOT1L_uc002lvc.1_Missense_Mutation_p.E4K|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.E4K	p.E710K	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)	20	2164	+		Hepatocellular(1079;0.137)	710					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2128G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	34	5.312757	0.95655	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.37752	1.18	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.65498	2.005	0.53688	D	0.999972	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.63972	-0.6516	10	0.87932	D	0	-32.444	17.4392	0.87561	0.0:0.0:1.0:0.0	.	710;710	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	K	710	ENSP00000381657:E710K	ENSP00000221482:E710K	E	+	1	0	DOT1L	2167484	1.000000	0.71417	0.929000	0.37066	0.854000	0.48673	9.111000	0.94308	2.437000	0.82529	0.655000	0.94253	GAG		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		12	47	0	0	0	0.001368	0	12	47		
DOT1L	84444	broad.mit.edu	37	19	2216699	2216699	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:2216699G>A	ENST00000398665.3	+	20	2379	c.2343G>A	c.(2341-2343)ctG>ctA	p.L781L	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	781					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)	p.L781L(2)		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)		AGATTGTGCTGAGGCGGCACC	0.692																																						uc002lvb.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2341-2343)CTG>CTA		DOT1-like, histone H3 methyltransferase							29.0	34.0	32.0					19																	2216699		2072	4180	6252	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216699G>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.2343G>A	19.37:g.2216699G>A						DOT1L_uc002lvc.1_Silent_p.L75L|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.L75L	p.L781L	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)	20	2379	+		Hepatocellular(1079;0.137)	781					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.2343G>A	CCDS42460.1																																																																																				0.692	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		7	61	0	0	0	0.00308	0	7	61		
ZBTB7A	51341	broad.mit.edu	37	19	4048050	4048050	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:4048050G>A	ENST00000322357.4	-	3	1733	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	ZBTB7A_ENST00000601588.1_Silent_p.L485L	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	485					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)	p.L485L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCTTTCTTGAGGTGTCTGT	0.731																																						uc002lzh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(1453-1455)CTC>CTT		zinc finger and BTB domain containing 7A							45.0	41.0	42.0					19																	4048050		2203	4300	6503	SO:0001819	synonymous_variant	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4048050G>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1455C>T	19.37:g.4048050G>A						ZBTB7A_uc002lzi.2_Silent_p.L485L	p.L485L	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1530	-		Hepatocellular(1079;0.137)	485			C2H2-type 4; atypical.		D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	c.1455C>T	CCDS12119.1																																																																																				0.731	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2		NM_015898		6	23	0	0	0	0.001984	0	6	23		
CAMSAP3	57662	broad.mit.edu	37	19	7676406	7676406	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:7676406C>T	ENST00000160298.4	+	10	1228	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.S403F	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	376					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.S403F(2)|p.S376F(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCCCCAGGCTCCCTGAAGTCT	0.632																																						uc002mgv.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	pancreas(1)	1						c.(1126-1128)TCC>TTC		NEZHA isoform 2							30.0	31.0	31.0					19																	7676406		1940	4130	6070	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7676406C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1127C>T	19.37:g.7676406C>T	ENSP00000160298:p.Ser376Phe					KIAA1543_uc002mgu.3_Missense_Mutation_p.S403F	p.S376F	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			10	1228	+			376					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.1127C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	15.19	2.761226	0.49468	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.15952	2.38;2.38	5.12	5.12	0.69794	.	0.311223	0.26136	N	0.026127	T	0.35189	0.0923	L	0.56769	1.78	0.50632	D	0.999881	D;D	0.63880	0.991;0.993	P;P	0.61132	0.757;0.884	T	0.04065	-1.0980	10	0.59425	D	0.04	-21.7525	15.4969	0.75662	0.0:1.0:0.0:0.0	.	376;403	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	F	403;376	ENSP00000416797:S403F;ENSP00000160298:S376F	ENSP00000160298:S376F	S	+	2	0	KIAA1543	7582406	0.998000	0.40836	0.999000	0.59377	0.520000	0.34377	5.543000	0.67225	2.384000	0.81235	0.643000	0.83706	TCC		0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362		3	5	0	0	0	0.004672	0	3	5		
CAMSAP3	57662	broad.mit.edu	37	19	7676584	7676584	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:7676584C>G	ENST00000160298.4	+	11	1306	c.1205C>G	c.(1204-1206)tCc>tGc	p.S402C	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.S429C	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	402					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.S429C(2)|p.S402C(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CGTCCCCTCTCCCAGGCTGTG	0.692																																						uc002mgv.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	pancreas(1)	1						c.(1204-1206)TCC>TGC		NEZHA isoform 2							13.0	16.0	15.0					19																	7676584		1995	4137	6132	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7676584C>G	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1205C>G	19.37:g.7676584C>G	ENSP00000160298:p.Ser402Cys					KIAA1543_uc002mgu.3_Missense_Mutation_p.S429C|KIAA1543_uc002mgw.2_5'Flank	p.S402C	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			11	1306	+			402					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.1205C>G	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	13.43	2.233472	0.39498	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.18960	2.18;2.18	4.48	4.48	0.54585	.	0.176801	0.47852	D	0.000202	T	0.41534	0.1163	M	0.65498	2.005	0.54753	D	0.999984	P;D	0.65815	0.944;0.995	P;P	0.60415	0.518;0.874	T	0.41034	-0.9531	10	0.66056	D	0.02	-27.7051	15.9387	0.79736	0.0:1.0:0.0:0.0	.	402;429	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	C	429;402	ENSP00000416797:S429C;ENSP00000160298:S402C	ENSP00000160298:S402C	S	+	2	0	KIAA1543	7582584	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.282000	0.65615	2.036000	0.60181	0.551000	0.68910	TCC		0.692	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362		3	10	0	0	0	0.004672	0	3	10		
MUC16	94025	broad.mit.edu	37	19	9075858	9075858	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:9075858C>G	ENST00000397910.4	-	3	11791	c.11588G>C	c.(11587-11589)aGa>aCa	p.R3863T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3864	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)		p.R3863T(2)		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						AGATGTAGCTCTTGCCTCTGT	0.453																																						uc002mkp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11587-11589)AGA>ACA		mucin 16							145.0	130.0	135.0					19																	9075858		2037	4202	6239	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075858C>G	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.11588G>C	19.37:g.9075858C>G	ENSP00000381008:p.Arg3863Thr						p.R3863T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11792	-			3864			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11588G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	7.182	0.589761	0.13812	.	.	ENSG00000181143	ENST00000397910	T	0.02863	4.13	1.52	-3.04	0.05412	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.19817	0.039	B	0.09377	0.004	T	0.39522	-0.9610	8	0.87932	D	0	.	8.9587	0.35834	0.0:0.3136:0.6864:0.0	.	3863	B5ME49	.	T	3863	ENSP00000381008:R3863T	ENSP00000381008:R3863T	R	-	2	0	MUC16	8936858	0.000000	0.05858	0.000000	0.03702	0.698000	0.40448	-1.015000	0.03637	-0.812000	0.04363	0.205000	0.17691	AGA		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		10	33	0	0	0	0.006214	0	10	33		
TYK2	7297	broad.mit.edu	37	19	10478793	10478793	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:10478793C>G	ENST00000525621.1	-	5	884	c.403G>C	c.(403-405)Gat>Cat	p.D135H	TYK2_ENST00000524462.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.D135H|TYK2_ENST00000529370.1_Missense_Mutation_p.D135H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	135	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D135H(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTGTCTGATCTGAGGATGCC	0.567																																						uc002moc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(403-405)GAT>CAT		tyrosine kinase 2							87.0	72.0	77.0					19																	10478793		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10478793C>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.403G>C	19.37:g.10478793C>G	ENSP00000431885:p.Asp135His					TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Missense_Mutation_p.D135H	p.D135H	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		5	781	-			135			FERM.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.403G>C	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530676	0.27387	.	.	ENSG00000105397	ENST00000525621;ENST00000264818;ENST00000529370	T;T;T	0.73681	-0.77;-0.77;-0.77	5.12	4.06	0.47325	Band 4.1 domain (1);FERM domain (1);	0.567630	0.15093	N	0.280975	T	0.69378	0.3104	N	0.22421	0.69	0.09310	N	1	P;P	0.51351	0.944;0.74	P;P	0.49502	0.613;0.519	T	0.62539	-0.6833	10	0.72032	D	0.01	-7.1361	13.1709	0.59597	0.0:0.8382:0.1618:0.0	.	135;135	E9PPF2;P29597	.;TYK2_HUMAN	H	135	ENSP00000431885:D135H;ENSP00000264818:D135H;ENSP00000432728:D135H	ENSP00000264818:D135H	D	-	1	0	TYK2	10339793	0.002000	0.14202	0.014000	0.15608	0.133000	0.20885	1.299000	0.33424	1.114000	0.41781	0.544000	0.68410	GAT		0.567	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				9	27	0	0	0	0.006214	0	9	27		
DOCK6	57572	broad.mit.edu	37	19	11343960	11343960	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:11343960C>G	ENST00000294618.7	-	22	2648	c.2637G>C	c.(2635-2637)aaG>aaC	p.K879N	DOCK6_ENST00000319867.7_Missense_Mutation_p.K183N|RN7SL298P_ENST00000581369.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	879					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K879N(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TGCTGATGCTCTTGGAACGCG	0.657																																						uc002mqs.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2635-2637)AAG>AAC		dedicator of cytokinesis 6							45.0	53.0	50.0					19																	11343960		2158	4263	6421	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11343960C>G		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2637G>C	19.37:g.11343960C>G	ENSP00000294618:p.Lys879Asn					DOCK6_uc010xlq.1_Missense_Mutation_p.K183N	p.K879N	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			22	2678	-			879					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.2637G>C	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404902	0.42613	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.24538	2.64;1.85	4.57	1.2	0.21068	.	0.066718	0.64402	D	0.000016	T	0.23370	0.0565	M	0.64997	1.995	0.42892	D	0.994201	B;B	0.26845	0.161;0.014	B;B	0.25140	0.058;0.01	T	0.06588	-1.0818	10	0.54805	T	0.06	-22.0354	7.8828	0.29631	0.0:0.5634:0.0:0.4366	.	183;879	C9IZV6;Q96HP0	.;DOCK6_HUMAN	N	879;183	ENSP00000294618:K879N;ENSP00000321556:K183N	ENSP00000294618:K879N	K	-	3	2	DOCK6	11204960	0.988000	0.35896	1.000000	0.80357	0.948000	0.59901	0.450000	0.21762	0.359000	0.24239	-0.687000	0.03738	AAG		0.657	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1		NM_020812		12	23	0	0	0	0.003163	0	12	23		
CCDC130	81576	broad.mit.edu	37	19	13873412	13873412	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:13873412G>A	ENST00000586600.1	+	11	1224	c.721G>A	c.(721-723)Gac>Aac	p.D241N	MRI1_ENST00000319545.8_5'Flank|CCDC130_ENST00000221554.8_Missense_Mutation_p.D241N|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000040663.6_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	241					response to virus (GO:0009615)			p.D241N(1)		endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AGCCTACGAGGACAAGCAGAA	0.622																																						uc002mxb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(721-723)GAC>AAC		coiled-coil domain containing 130							33.0	35.0	35.0					19																	13873412		2202	4299	6501	SO:0001583	missense	81576				response to virus		protein binding	g.chr19:13873412G>A	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.721G>A	19.37:g.13873412G>A	ENSP00000465776:p.Asp241Asn					CCDC130_uc002mxc.1_Missense_Mutation_p.D241N|CCDC130_uc002mxd.1_Missense_Mutation_p.D96N|CCDC130_uc010dzf.1_Missense_Mutation_p.D135N|MRI1_uc002mxe.2_5'Flank|MRI1_uc002mxf.2_5'Flank	p.D241N	NM_030818	NP_110445	P13994	CC130_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)		11	1224	+			241					Q9BQ72	Missense_Mutation	SNP	ENST00000586600.1	37	c.721G>A	CCDS12296.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586407	0.46110	.	.	ENSG00000104957	ENST00000221554	T	0.39229	1.09	5.26	5.26	0.73747	.	0.273781	0.40728	N	0.001023	T	0.41328	0.1154	M	0.78049	2.395	0.80722	D	1	B;B	0.33448	0.412;0.12	B;B	0.30105	0.111;0.076	T	0.28138	-1.0053	10	0.18276	T	0.48	-27.4692	12.1343	0.53961	0.0:0.173:0.827:0.0	.	241;241	B3KUZ1;P13994	.;CC130_HUMAN	N	241	ENSP00000221554:D241N	ENSP00000221554:D241N	D	+	1	0	CCDC130	13734412	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	6.339000	0.72969	2.470000	0.83445	0.561000	0.74099	GAC		0.622	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453216.2		NM_030818		3	25	0	0	0	0.004672	0	3	25		
AKAP8L	26993	broad.mit.edu	37	19	15510131	15510131	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:15510131C>T	ENST00000397410.5	-	9	1269	c.1139G>A	c.(1138-1140)cGa>cAa	p.R380Q	AKAP8L_ENST00000595465.2_Missense_Mutation_p.R319Q|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	380						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R380Q(4)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CATGCGGTCTCGCTGCCGCTT	0.617																																						uc002naw.1		NaN																	4	Substitution - Missense(4)		urinary_tract(2)|endometrium(2)	ovary(1)	1						c.(1138-1140)CGA>CAA		A kinase (PRKA) anchor protein 8-like							177.0	179.0	178.0					19																	15510131		2114	4226	6340	SO:0001583	missense	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15510131C>T	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1139G>A	19.37:g.15510131C>T	ENSP00000380557:p.Arg380Gln					AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.R319Q	p.R380Q	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			9	1238	-			380					B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	c.1139G>A	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978477	0.74360	.	.	ENSG00000011243	ENST00000397410	T	0.53423	0.62	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	L	0.29908	0.895	0.36083	D	0.842931	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.968	T	0.65212	-0.6223	10	0.54805	T	0.06	-5.4184	18.5419	0.91031	0.0:1.0:0.0:0.0	.	319;380	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	Q	380	ENSP00000380557:R380Q	ENSP00000380557:R380Q	R	-	2	0	AKAP8L	15371131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.144000	0.64832	2.676000	0.91093	0.561000	0.74099	CGA		0.617	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2		NM_014371		9	42	0	0	0	0.001368	0	9	42		
OR10H1	26539	broad.mit.edu	37	19	15918161	15918161	+	Missense_Mutation	SNP	G	G	C	rs367868657		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:15918161G>C	ENST00000334920.2	-	1	775	c.687C>G	c.(685-687)atC>atG	p.I229M		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I229M(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CAGCAGAAGGGATCTTCAAGA	0.567																																						uc002nbq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(685-687)ATC>ATG		olfactory receptor, family 10, subfamily H,							75.0	63.0	67.0					19																	15918161		2202	4279	6481	SO:0001583	missense	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918161G>C	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.687C>G	19.37:g.15918161G>C	ENSP00000335596:p.Ile229Met						p.I229M	NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN			1	776	-			229			Cytoplasmic (Potential).		Q6IFQ2|Q96R59	Missense_Mutation	SNP	ENST00000334920.2	37	c.687C>G	CCDS12335.1	.	.	.	.	.	.	.	.	.	.	.	10.81	1.454706	0.26161	.	.	ENSG00000186723	ENST00000334920	T	0.00241	8.46	4.96	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000109	T	0.00210	0.0006	L	0.47190	1.495	0.27643	N	0.947646	P	0.46706	0.883	P	0.50162	0.633	T	0.42816	-0.9429	10	0.35671	T	0.21	.	4.3686	0.11237	0.1898:0.1989:0.6112:0.0	.	229	Q9Y4A9	O10H1_HUMAN	M	229	ENSP00000335596:I229M	ENSP00000335596:I229M	I	-	3	3	OR10H1	15779161	0.000000	0.05858	0.967000	0.41034	0.160000	0.22226	-0.476000	0.06591	1.026000	0.39733	0.643000	0.83706	ATC		0.567	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1				9	51	0	0	0	0.006214	0	9	51		
NWD1	284434	broad.mit.edu	37	19	16860125	16860125	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:16860125C>T	ENST00000552788.1	+	4	672	c.672C>T	c.(670-672)ctC>ctT	p.L224L	NWD1_ENST00000549814.1_Silent_p.L224L|NWD1_ENST00000523826.1_Silent_p.L18L|NWD1_ENST00000339803.6_Silent_p.L89L|NWD1_ENST00000379808.3_Silent_p.L224L|NWD1_ENST00000524140.2_Silent_p.L224L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	224							ATP binding (GO:0005524)	p.L224L(1)|p.L89L(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGAACCTTCTCAGCAGCCTCA	0.587																																						uc002neu.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(670-672)CTC>CTT		RecName: Full=NACHT and WD repeat domain-containing protein 1;							76.0	63.0	67.0					19																	16860125		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16860125C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.672C>T	19.37:g.16860125C>T						NWD1_uc002net.3_Silent_p.L89L|NWD1_uc002nev.3_Silent_p.L18L	p.L224L			Q149M9	NWD1_HUMAN			6	1094	+			224					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.672C>T																																																																																					0.587	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1		NM_001007525		21	57	0	0	0	0.008871	0	21	57		
MYO9B	4650	broad.mit.edu	37	19	17311468	17311468	+	Missense_Mutation	SNP	C	C	T	rs537346242	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:17311468C>T	ENST00000594824.1	+	26	4540	c.4393C>T	c.(4393-4395)Cgc>Tgc	p.R1465C	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1465C|MYO9B_ENST00000595618.1_Missense_Mutation_p.R1465C			Q13459	MYO9B_HUMAN	myosin IXB	1465	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R1465C(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ACAGCAGCATCGCCACGCTGC	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		19725	0.0		0.002	False		,,,				2504	0.0					uc010eak.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)	1						c.(4393-4395)CGC>TGC		myosin IXB isoform 1							69.0	78.0	75.0					19																	17311468		2146	4250	6396	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311468C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4393C>T	19.37:g.17311468C>T	ENSP00000471367:p.Arg1465Cys					MYO9B_uc002nfi.2_Missense_Mutation_p.R1465C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1465C|MYO9B_uc002nfl.1_Missense_Mutation_p.R14C	p.R1465C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			26	4545	+			1465			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4393C>T		.	.	.	.	.	.	.	.	.	.	C	7.918	0.738044	0.15574	.	.	ENSG00000099331	ENST00000397274	D	0.85629	-2.01	4.37	3.31	0.37934	.	0.109289	0.41396	N	0.000891	T	0.81297	0.4793	L	0.60455	1.87	0.46798	D	0.999203	B;B;B;B	0.17268	0.013;0.021;0.013;0.013	B;B;B;B	0.16722	0.007;0.016;0.007;0.007	T	0.77208	-0.2672	10	0.62326	D	0.03	.	9.9176	0.41444	0.0:0.9022:0.0:0.0978	.	1465;1465;1465;1471	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	C	1465	ENSP00000380444:R1465C	ENSP00000380444:R1465C	R	+	1	0	MYO9B	17172468	0.011000	0.17503	0.928000	0.36995	0.030000	0.12068	1.500000	0.35682	0.811000	0.34303	0.491000	0.48974	CGC		0.602	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1				6	15	0	0	0	0.001168	0	6	15		
COMP	1311	broad.mit.edu	37	19	18896563	18896563	+	Missense_Mutation	SNP	C	C	T	rs145034923		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:18896563C>T	ENST00000222271.2	-	14	1632	c.1588G>A	c.(1588-1590)Gac>Aac	p.D530N	COMP_ENST00000542601.2_Missense_Mutation_p.D497N|COMP_ENST00000425807.1_Missense_Mutation_p.D477N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	530	Mediates cell survival and induction of the IAP family of survival proteins.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.D530N(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCCCTGAAGTCGGTGAGCGTG	0.627																																						uc002nke.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1588-1590)GAC>AAC		cartilage oligomeric matrix protein precursor		C	ASN/ASP	0,4406		0,0,2203	78.0	67.0	71.0		1588	4.5	1.0	19	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	COMP	NM_000095.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	530/758	18896563	1,13005	2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18896563C>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1588G>A	19.37:g.18896563C>T	ENSP00000222271:p.Asp530Asn					COMP_uc002nkd.2_Missense_Mutation_p.D497N|COMP_uc010xqj.1_Missense_Mutation_p.D477N	p.D530N	NM_000095	NP_000086	P49747	COMP_HUMAN			14	1624	-			530			Mediates cell survival and induction of the IAP family of survival proteins.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1588G>A	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297762	0.81025	0.0	1.16E-4	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.93859	-3.3;-3.3;-3.3	4.54	4.54	0.55810	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	U	0.000000	D	0.95223	0.8451	M	0.76574	2.34	0.80722	D	1	P;D	0.61697	0.947;0.99	P;P	0.55112	0.769;0.563	D	0.95894	0.8909	10	0.87932	D	0	-31.5013	15.8171	0.78612	0.0:1.0:0.0:0.0	.	477;530	B4DKJ3;P49747	.;COMP_HUMAN	N	497;530;477;517	ENSP00000439156:D497N;ENSP00000222271:D530N;ENSP00000403792:D477N	ENSP00000222271:D530N	D	-	1	0	COMP	18757563	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	7.668000	0.83897	2.071000	0.62044	0.436000	0.28706	GAC		0.627	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1		NM_000095		16	29	0	0	0	0.006122	0	16	29		
ZNF681	148213	broad.mit.edu	37	19	23926476	23926476	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23926476C>T	ENST00000402377.3	-	4	2017	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ZNF681_ENST00000395385.3_Missense_Mutation_p.D557N	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	626					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D557N(1)|p.D626N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTTCAAAATCACTGTTACAT	0.308																																						uc002nrk.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1876-1878)GAT>AAT		zinc finger protein 681							55.0	56.0	56.0					19																	23926476		2200	4299	6499	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23926476C>T	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1876G>A	19.37:g.23926476C>T	ENSP00000384000:p.Asp626Asn					ZNF681_uc002nrl.3_Missense_Mutation_p.D557N|ZNF681_uc002nrj.3_Missense_Mutation_p.D557N	p.D626N	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	2018	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	626					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1876G>A	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	7.375	0.627671	0.14257	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.60171	0.21;0.21	1.57	0.458	0.16670	.	.	.	.	.	T	0.35624	0.0938	N	0.11870	0.19	0.09310	N	1	B	0.16166	0.016	B	0.28465	0.09	T	0.35871	-0.9771	9	0.87932	D	0	.	2.5812	0.04818	0.0:0.454:0.3194:0.2267	.	626	Q96N22	ZN681_HUMAN	N	626;557	ENSP00000384000:D626N;ENSP00000378783:D557N	ENSP00000378783:D557N	D	-	1	0	ZNF681	23718316	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-1.709000	0.01890	0.840000	0.34995	0.411000	0.27672	GAT		0.308	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2		NM_138286		7	8	0	0	0	0.00308	0	7	8		
ZNF681	148213	broad.mit.edu	37	19	23926861	23926861	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23926861C>G	ENST00000402377.3	-	4	1632	c.1491G>C	c.(1489-1491)aaG>aaC	p.K497N	ZNF681_ENST00000395385.3_Missense_Mutation_p.K428N	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K497N(1)|p.K428N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGAATTCTCTTATGTGTAG	0.358																																						uc002nrk.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1489-1491)AAG>AAC		zinc finger protein 681							51.0	56.0	54.0					19																	23926861		2193	4290	6483	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23926861C>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1491G>C	19.37:g.23926861C>G	ENSP00000384000:p.Lys497Asn					ZNF681_uc002nrl.3_Missense_Mutation_p.K428N|ZNF681_uc002nrj.3_Missense_Mutation_p.K428N	p.K497N	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	1633	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	497			C2H2-type 12.		B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1491G>C	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	3.641	-0.073625	0.07184	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.51817	0.69;0.69	1.51	0.318	0.15867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50548	0.1622	L	0.42529	1.33	0.18873	N	0.999985	P	0.51449	0.945	P	0.60068	0.868	T	0.38351	-0.9665	9	0.72032	D	0.01	.	4.3121	0.10976	0.0:0.582:0.0:0.418	.	497	Q96N22	ZN681_HUMAN	N	497;428	ENSP00000384000:K497N;ENSP00000378783:K428N	ENSP00000378783:K428N	K	-	3	2	ZNF681	23718701	0.000000	0.05858	0.076000	0.20297	0.082000	0.17680	-0.283000	0.08433	-0.062000	0.13088	-0.657000	0.03884	AAG		0.358	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2		NM_138286		20	55	0	0	0	0.008871	0	20	55		
ZNF681	148213	broad.mit.edu	37	19	23927978	23927978	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:23927978C>G	ENST00000402377.3	-	4	515	c.374G>C	c.(373-375)gGa>gCa	p.G125A	ZNF681_ENST00000395385.3_Missense_Mutation_p.G56A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	125					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G125A(1)|p.G56A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTATAACCTCCTTTTTGCAC	0.294																																						uc002nrk.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(373-375)GGA>GCA		zinc finger protein 681							59.0	57.0	58.0					19																	23927978		2202	4300	6502	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927978C>G	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.374G>C	19.37:g.23927978C>G	ENSP00000384000:p.Gly125Ala					ZNF681_uc002nrl.3_Missense_Mutation_p.G56A|ZNF681_uc002nrj.3_Missense_Mutation_p.G56A	p.G125A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	516	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	125					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.374G>C	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	1.948	-0.441885	0.04604	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.07327	3.39;3.2;6.13;6.49	1.23	0.0167	0.14109	.	.	.	.	.	T	0.05777	0.0151	L	0.31157	0.91	0.09310	N	1	B	0.20780	0.048	B	0.22152	0.038	T	0.41270	-0.9518	9	0.30078	T	0.28	.	5.1659	0.15084	0.0:0.7457:0.0:0.2543	.	125	Q96N22	ZN681_HUMAN	A	125;56;56;56	ENSP00000384000:G125A;ENSP00000378783:G56A;ENSP00000433806:G56A;ENSP00000435824:G56A	ENSP00000378783:G56A	G	-	2	0	ZNF681	23719818	0.000000	0.05858	0.036000	0.18154	0.039000	0.13416	-0.669000	0.05262	0.630000	0.30394	0.306000	0.20318	GGA		0.294	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2		NM_138286		7	24	0	0	0	0.001984	0	7	24		
ZNF536	9745	broad.mit.edu	37	19	31039228	31039228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:31039228G>A	ENST00000355537.3	+	4	2849	c.2702G>A	c.(2701-2703)gGa>gAa	p.G901E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	901					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G901E(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCTGAGATCGGAAGAGCTTAT	0.512																																						uc002nsu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2701-2703)GGA>GAA		zinc finger protein 536							146.0	150.0	149.0					19																	31039228		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039228G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2702G>A	19.37:g.31039228G>A	ENSP00000347730:p.Gly901Glu					ZNF536_uc010edd.1_Missense_Mutation_p.G901E	p.G901E	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2840	+	Esophageal squamous(110;0.0834)		901					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2702G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324510	0.41197	.	.	ENSG00000198597	ENST00000355537	T	0.08546	3.08	5.82	5.82	0.92795	.	0.050161	0.85682	D	0.000000	T	0.15825	0.0381	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	P;P	0.62560	0.904;0.904	T	0.01940	-1.1243	10	0.02654	T	1	-11.722	20.0979	0.97857	0.0:0.0:1.0:0.0	.	901;901	A7E228;O15090	.;ZN536_HUMAN	E	901	ENSP00000347730:G901E	ENSP00000347730:G901E	G	+	2	0	ZNF536	35731068	1.000000	0.71417	0.898000	0.35279	0.420000	0.31355	7.497000	0.81536	2.761000	0.94854	0.591000	0.81541	GGA		0.512	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		33	202	0	0	0	0.012213	0	33	202		
ANKRD27	84079	broad.mit.edu	37	19	33089074	33089074	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:33089074C>G	ENST00000306065.4	-	29	3288	c.3130G>C	c.(3130-3132)Gag>Cag	p.E1044Q		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1044					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1044Q(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCACTAACCTCTTGGGGAGTG	0.587																																						uc002ntn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(3130-3132)GAG>CAG		ankyrin repeat domain 27 (VPS9 domain)							57.0	58.0	58.0					19																	33089074		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33089074C>G	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.3130G>C	19.37:g.33089074C>G	ENSP00000304292:p.Glu1044Gln						p.E1044Q	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			29	3286	-	Esophageal squamous(110;0.137)		1044					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.3130G>C	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797369	0.50208	.	.	ENSG00000105186	ENST00000306065	T	0.70282	-0.47	5.5	4.45	0.53987	.	0.146062	0.31636	N	0.007307	T	0.63402	0.2508	L	0.54323	1.7	0.80722	D	1	P	0.40970	0.734	B	0.37601	0.254	T	0.67616	-0.5625	10	0.56958	D	0.05	-28.1276	10.7747	0.46342	0.0:0.908:0.0:0.092	.	1044	Q96NW4	ANR27_HUMAN	Q	1044	ENSP00000304292:E1044Q	ENSP00000304292:E1044Q	E	-	1	0	ANKRD27	37780914	0.287000	0.24315	0.784000	0.31847	0.046000	0.14306	2.002000	0.40835	2.737000	0.93849	0.563000	0.77884	GAG		0.587	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		NM_032139		42	58	0	0	0	0.00361	0	42	58		
KMT2B	9757	broad.mit.edu	37	19	36218436	36218436	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:36218436G>C	ENST00000222270.7	+	16	4215	c.4215G>C	c.(4213-4215)ctG>ctC	p.L1405L	KMT2B_ENST00000420124.1_Silent_p.L1405L|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1405					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L1407L(2)									GAGAGGCCCTGAGCGGGGCCC	0.687																																						uc010eei.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(4213-4215)CTG>CTC		myeloid/lymphoid or mixed-lineage leukemia 4							47.0	50.0	49.0					19																	36218436		1880	4073	5953	SO:0001819	synonymous_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36218436G>C	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4215G>C	19.37:g.36218436G>C							p.L1405L	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		17	4215	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1405					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.4215G>C	CCDS46055.1																																																																																				0.687	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727		16	118	0	0	0	0.004007	0	16	118		
NPHS1	4868	broad.mit.edu	37	19	36322010	36322010	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:36322010C>T	ENST00000378910.5	-	27	3425	c.3426G>A	c.(3424-3426)ctG>ctA	p.L1142L	NPHS1_ENST00000353632.6_Silent_p.L1102L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1142					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)	p.L1142L(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGAAGTCCCTCAGGGAGCGGT	0.587																																						uc002oby.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(4)|skin(1)	5						c.(3424-3426)CTG>CTA		nephrin precursor							78.0	75.0	76.0					19																	36322010		2203	4300	6503	SO:0001819	synonymous_variant	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36322010C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3426G>A	19.37:g.36322010C>T						NPHS1_uc010eem.1_RNA	p.L1142L	NM_004646	NP_004637	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		27	3426	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		1142			Cytoplasmic (Potential).		A6NDH2|C3RX61	Silent	SNP	ENST00000378910.5	37	c.3426G>A	CCDS32996.1																																																																																				0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1				15	145	0	0	0	0.003163	0	15	145		
ZNF567	163081	broad.mit.edu	37	19	37211048	37211048	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:37211048G>A	ENST00000536254.2	+	6	1644	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	ZNF567_ENST00000585696.1_Silent_p.E443E|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.E443E|ZNF567_ENST00000360729.4_Silent_p.E443E|ZNF567_ENST00000588311.1_Silent_p.E443E			Q8N184	ZN567_HUMAN	zinc finger protein 567	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E443E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATACAGGGGAGAAATCTTATG	0.418																																						uc010xtl.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1420-1422)GAG>GAA		zinc finger protein 567							85.0	86.0	86.0					19																	37211048		2203	4300	6503	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211048G>A	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1422G>A	19.37:g.37211048G>A						ZNF567_uc002oeo.1_Silent_p.E474E|ZNF567_uc010xtk.1_Silent_p.E474E|ZNF567_uc002oep.3_Silent_p.E443E|ZNF567_uc002oeq.1_Silent_p.E443E	p.E474E	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1644	+	Esophageal squamous(110;0.198)		474					B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.1422G>A																																																																																					0.418	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1		NM_152603		36	51	0	0	0	0.004878	0	36	51		
RYR1	6261	broad.mit.edu	37	19	38976369	38976369	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:38976369C>G	ENST00000359596.3	+	34	5074	c.5074C>G	c.(5074-5076)Cag>Gag	p.Q1692E	RYR1_ENST00000360985.3_Missense_Mutation_p.Q1692E|RYR1_ENST00000355481.4_Missense_Mutation_p.Q1692E			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1692	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.Q1692E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGACCAAGCTCAGCTGCTGCA	0.667																																						uc002oit.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(5074-5076)CAG>GAG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						49.0	49.0	49.0					19																	38976369		2203	4299	6502	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976369C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5074C>G	19.37:g.38976369C>G	ENSP00000352608:p.Gln1692Glu					RYR1_uc002oiu.2_Missense_Mutation_p.Q1692E	p.Q1692E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5204	+	all_cancers(60;7.91e-06)		1692			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5074C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418289	0.42918	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97959	-4.62;-4.62;-4.63	3.98	3.98	0.46160	.	0.000000	0.64402	U	0.000004	D	0.98726	0.9572	M	0.86740	2.835	0.48135	D	0.999596	D;D	0.69078	0.982;0.997	D;D	0.81914	0.968;0.995	D	0.99727	1.1011	10	0.87932	D	0	.	15.8552	0.78972	0.0:1.0:0.0:0.0	.	1692;1692	P21817-2;P21817	.;RYR1_HUMAN	E	1692	ENSP00000352608:Q1692E;ENSP00000347667:Q1692E;ENSP00000354254:Q1692E	ENSP00000347667:Q1692E	Q	+	1	0	RYR1	43668209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.574000	0.82434	2.048000	0.60808	0.585000	0.79938	CAG		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				39	81	0	0	0	0.00874	0	39	81		
ACTN4	81	broad.mit.edu	37	19	39219769	39219769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39219769C>T	ENST00000252699.2	+	20	2628	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	ACTN4_ENST00000424234.2_Missense_Mutation_p.S461F|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Missense_Mutation_p.S632F	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	851	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.S851F(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTCATCGCTTCCTTCAAGGTC	0.637																																					Colon(168;199 1940 10254 46213 46384)	uc002oja.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2551-2553)TCC>TTC		actinin, alpha 4							91.0	80.0	84.0					19																	39219769		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39219769C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2552C>T	19.37:g.39219769C>T	ENSP00000252699:p.Ser851Phe					ACTN4_uc002ojb.1_Missense_Mutation_p.S173F	p.S851F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		20	2611	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		851					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.2552C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605797	0.66445	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	3.62	3.62	0.41486	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.78874	0.4352	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.85774	0.1357	10	0.87932	D	0	.	14.5716	0.68216	0.0:1.0:0.0:0.0	.	851	O43707	ACTN4_HUMAN	F	851;461;632;282	ENSP00000252699:S851F;ENSP00000411187:S461F;ENSP00000439497:S632F;ENSP00000398393:S282F	ENSP00000252699:S851F	S	+	2	0	ACTN4	43911609	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.860000	0.69546	2.035000	0.60131	0.561000	0.74099	TCC		0.637	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1				10	89	0	0	0	0.010729	0	10	89		
RINL	126432	broad.mit.edu	37	19	39361468	39361468	+	Nonsense_Mutation	SNP	C	C	A	rs377035423		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39361468C>A	ENST00000591812.1	-	8	852	c.766G>T	c.(766-768)Gag>Tag	p.E256*	RINL_ENST00000340740.3_Nonsense_Mutation_p.E142*|RINL_ENST00000598904.1_Nonsense_Mutation_p.E142*|RINL_ENST00000602238.1_5'UTR|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	256	Glu-rich.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E142*(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						AGCACGTCCTCAGGGCCTTCC	0.622																																						uc002ojq.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	pancreas(1)	1						c.(424-426)GAG>TAG		Ras and Rab interactor-like							75.0	65.0	69.0					19																	39361468		2203	4300	6503	SO:0001587	stop_gained	126432						GTPase activator activity	g.chr19:39361468C>A	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.766G>T	19.37:g.39361468C>A	ENSP00000467107:p.Glu256*					RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Nonsense_Mutation_p.E256*	p.E142*	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN			8	812	-			142					B4DPG5	Nonsense_Mutation	SNP	ENST00000591812.1	37	c.424G>T	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	C	37	6.334181	0.97485	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	.	.	.	5.22	5.22	0.72569	.	0.531595	0.19561	N	0.111325	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-10.0748	14.134	0.65273	0.0:1.0:0.0:0.0	.	.	.	.	X	142	.	ENSP00000340369:E142X	E	-	1	0	RINL	44053308	0.636000	0.27207	0.295000	0.24960	0.003000	0.03518	1.947000	0.40293	2.721000	0.93114	0.491000	0.48974	GAG		0.622	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1		NM_198445		53	61	1	0	1.17673e-23	0.00361	1.26078e-23	53	61		
RINL	126432	broad.mit.edu	37	19	39361736	39361736	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39361736C>T	ENST00000591812.1	-	7	669	c.583G>A	c.(583-585)Gct>Act	p.A195T	RINL_ENST00000340740.3_Missense_Mutation_p.A81T|RINL_ENST00000598904.1_Missense_Mutation_p.A81T|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	195					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A81T(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TGTCTCTGAGCAGCCTCTGGC	0.622																																						uc002ojq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(241-243)GCT>ACT		Ras and Rab interactor-like							60.0	68.0	65.0					19																	39361736		2203	4300	6503	SO:0001583	missense	126432						GTPase activator activity	g.chr19:39361736C>T	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.583G>A	19.37:g.39361736C>T	ENSP00000467107:p.Ala195Thr					RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.A195T	p.A81T	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN			7	629	-			81					B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	c.241G>A	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484797	0.26598	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.51574	0.7	4.45	1.03	0.20045	.	1.663870	0.03101	N	0.161070	T	0.32496	0.0831	N	0.24115	0.695	0.09310	N	1	B;B	0.17465	0.01;0.022	B;B	0.09377	0.003;0.004	T	0.13899	-1.0492	10	0.29301	T	0.29	-1.4074	4.212	0.10515	0.1817:0.6172:0.0:0.2011	.	195;81	B4DPG5;Q6ZS11	.;RINL_HUMAN	T	81	ENSP00000340369:A81T	ENSP00000340369:A81T	A	-	1	0	RINL	44053576	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.116000	0.15561	0.513000	0.28278	-0.823000	0.03104	GCT		0.622	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1		NM_198445		62	94	0	0	0	0.00361	0	62	94		
FBXO27	126433	broad.mit.edu	37	19	39521863	39521863	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:39521863G>A	ENST00000292853.4	-	3	581	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000509137.2_Silent_p.F154F|FBXO27_ENST00000600828.1_Silent_p.F153F	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	154	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)	p.F154F(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATGAAGTCACGAAGCACGTCT	0.582																																						uc002okh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|large_intestine(1)	ovary(1)	1						c.(460-462)TTC>TTT		F-box protein 27							122.0	121.0	121.0					19																	39521863		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39521863G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.462C>T	19.37:g.39521863G>A							p.F154F	NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		3	544	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		154			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.462C>T	CCDS12527.1																																																																																				0.582	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1				19	140	0	0	0	0.010504	0	19	140		
PRX	57716	broad.mit.edu	37	19	40902869	40902869	+	Nonsense_Mutation	SNP	G	G	A	rs574861276		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:40902869G>A	ENST00000324001.7	-	7	1660	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	464	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R464*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGGAGTCGAACCTCTGGA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17756	0.0		0.0	False		,,,				2504	0.0					uc002onr.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)	2						c.(1390-1392)CGA>TGA		periaxin isoform 2							74.0	84.0	81.0					19																	40902869		2203	4300	6503	SO:0001587	stop_gained	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902869G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1390C>T	19.37:g.40902869G>A	ENSP00000326018:p.Arg464*					PRX_uc002onq.2_Nonsense_Mutation_p.R325*|PRX_uc002ons.2_3'UTR	p.R464*	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	1659	-			464			5.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Nonsense_Mutation	SNP	ENST00000324001.7	37	c.1390C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184557	0.78677	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	.	.	.	4.02	4.02	0.46733	.	1.346850	0.05158	N	0.497193	.	.	.	.	.	.	0.44302	D	0.997173	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	0.4407	15.4591	0.75339	0.0:0.0:1.0:0.0	.	.	.	.	X	464	.	ENSP00000326018:R464X	R	-	1	2	PRX	45594709	.	.	0.018000	0.16275	0.060000	0.15804	.	.	2.268000	0.75426	0.561000	0.74099	CGA		0.612	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		70	145	0	0	0	0.00361	0	70	145		
ADCK4	79934	broad.mit.edu	37	19	41209631	41209631	+	Missense_Mutation	SNP	C	C	T	rs146225943	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:41209631C>T	ENST00000324464.3	-	8	1007	c.706G>A	c.(706-708)Gtg>Atg	p.V236M	ADCK4_ENST00000243583.6_Missense_Mutation_p.V195M|ADCK4_ENST00000450541.1_Missense_Mutation_p.V195M	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	236	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)	p.V236M(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TGGATCTTCACGGCCACCTCC	0.657													C|||	7	0.00139776	0.0053	0.0	5008	,	,		17718	0.0		0.0	False		,,,				2504	0.0					uc002oor.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(706-708)GTG>ATG		aarF domain containing kinase 4 isoform a		C	MET/VAL,MET/VAL	17,4389	24.3+/-50.5	1,15,2187	59.0	59.0	59.0		583,706	3.0	1.0	19	dbSNP_134	59	0,8600		0,0,4300	yes	missense,missense	ADCK4	NM_001142555.2,NM_024876.3	21,21	1,15,6487	TT,TC,CC		0.0,0.3858,0.1307	benign,benign	195/504,236/545	41209631	17,12989	2203	4300	6503	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41209631C>T	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.706G>A	19.37:g.41209631C>T	ENSP00000315118:p.Val236Met					ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.V195M	p.V236M	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		8	1008	-			236			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.706G>A	CCDS12562.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.62	1.991709	0.35131	0.003858	0.0	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.68765	-0.35;-0.35;-0.35	5.3	3.04	0.35103	ABC-1 (1);Protein kinase-like domain (1);	0.296003	0.33591	N	0.004741	T	0.45975	0.1369	L	0.42744	1.35	0.37889	D	0.930637	B;B	0.32507	0.373;0.327	B;B	0.30179	0.094;0.112	T	0.43686	-0.9376	10	0.05436	T	0.98	-21.4602	4.2482	0.10682	0.0:0.5706:0.1732:0.2562	.	236;195	Q96D53;Q96D53-2	ADCK4_HUMAN;.	M	236;195;195	ENSP00000315118:V236M;ENSP00000412839:V195M;ENSP00000243583:V195M	ENSP00000243583:V195M	V	-	1	0	ADCK4	45901471	0.996000	0.38824	0.993000	0.49108	0.991000	0.79684	2.510000	0.45468	1.238000	0.43771	0.655000	0.94253	GTG		0.657	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1		NM_024876		6	70	0	0	0	0.001168	0	6	70		
TMEM145	284339	broad.mit.edu	37	19	42819374	42819374	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:42819374C>G	ENST00000301204.3	+	7	581	c.540C>G	c.(538-540)atC>atG	p.I180M	TMEM145_ENST00000598766.1_Missense_Mutation_p.I204M	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	180					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.I180M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				tcctcctcatcttcatcctca	0.547																																						uc002otk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(538-540)ATC>ATG		transmembrane protein 145							214.0	178.0	190.0					19																	42819374		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819374C>G	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.540C>G	19.37:g.42819374C>G	ENSP00000301204:p.Ile180Met						p.I180M	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			7	592	+		Prostate(69;0.00682)	180			Helical; (Potential).			Missense_Mutation	SNP	ENST00000301204.3	37	c.540C>G	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888965	0.52014	.	.	ENSG00000167619	ENST00000301204	T	0.48522	0.81	4.03	2.81	0.32909	Rhodopsin-like GPCR transmembrane domain (1);	0.140098	0.45361	D	0.000380	T	0.37046	0.0989	L	0.46157	1.445	0.45118	D	0.998138	P	0.44309	0.832	B	0.40410	0.328	T	0.07520	-1.0768	10	0.33141	T	0.24	-7.0286	7.8677	0.29547	0.0:0.8631:0.0:0.1369	.	180	Q8NBT3	TM145_HUMAN	M	180	ENSP00000301204:I180M	ENSP00000301204:I180M	I	+	3	3	TMEM145	47511214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.577000	0.23758	0.628000	0.30357	0.455000	0.32223	ATC		0.547	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1		NM_173633		15	75	0	0	0	0.00245	0	15	75		
SMG9	56006	broad.mit.edu	37	19	44235749	44235749	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:44235749C>G	ENST00000270066.6	-	14	1904	c.1562G>C	c.(1561-1563)tGa>tCa	p.*521S		NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)	p.*521S(1)		kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						TCCTTGGCCTCAGGCCAGCAG	0.637																																						uc002oxj.2		NaN																	1	Nonstop extension(1)		urinary_tract(1)		0						c.(1561-1563)TGA>TCA		SMG9 protein							58.0	52.0	54.0					19																	44235749		2203	4300	6503	SO:0001578	stop_lost	56006				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding	g.chr19:44235749C>G	BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"""chromosome 19 open reading frame 61"", ""smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.1562G>C	19.37:g.44235749C>G							p.*521S	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN			14	1905	-		Prostate(69;0.0352)	521					O60429|Q9H9A9	Nonstop_Mutation	SNP	ENST00000270066.6	37	c.1562G>C	CCDS33043.2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225535	0.39300	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.29	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.241	0.31660	0.0:0.8192:0.0:0.1808	.	.	.	.	S	521	.	.	X	-	2	2	SMG9	48927589	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	1.328000	0.33758	1.247000	0.43917	-0.145000	0.13849	TGA		0.637	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317668.1		NM_019108		12	70	0	0	0	0.001368	0	12	70		
SYMPK	8189	broad.mit.edu	37	19	46330779	46330779	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:46330779C>T	ENST00000245934.7	-	16	2414	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	724					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.E724K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TTGTCCTTCTCATGGGAGCTG	0.597																																						uc002pdn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2170-2172)GAG>AAG		symplekin							111.0	81.0	91.0					19																	46330779		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46330779C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2170G>A	19.37:g.46330779C>T	ENSP00000245934:p.Glu724Lys					SYMPK_uc002pdo.1_Missense_Mutation_p.E724K|SYMPK_uc002pdp.1_Missense_Mutation_p.E724K	p.E724K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	16	2415	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	724					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2170G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329792	0.81690	.	.	ENSG00000125755	ENST00000245934	T	0.35605	1.3	4.74	4.74	0.60224	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.73962	2.25	0.80722	D	1	P;B	0.45474	0.859;0.027	B;B	0.37731	0.257;0.03	T	0.49476	-0.8936	10	0.54805	T	0.06	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	739;724	Q4LE61;Q92797	.;SYMPK_HUMAN	K	724	ENSP00000245934:E724K	ENSP00000245934:E724K	E	-	1	0	SYMPK	51022619	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.143000	0.77348	2.649000	0.89929	0.650000	0.86243	GAG		0.597	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1		NM_004819		13	32	0	0	0	0.001855	0	13	32		
PRKD2	25865	broad.mit.edu	37	19	47207801	47207801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47207801G>A	ENST00000291281.4	-	4	842	c.617C>T	c.(616-618)tCg>tTg	p.S206L	PRKD2_ENST00000595515.1_Missense_Mutation_p.S206L|PRKD2_ENST00000601806.1_Missense_Mutation_p.S49L|PRKD2_ENST00000433867.1_Missense_Mutation_p.S206L|PRKD2_ENST00000600194.1_Missense_Mutation_p.S49L			Q9BZL6	KPCD2_HUMAN	protein kinase D2	206					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.S206L(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAGGCGCACCGAGTGGCCACT	0.657											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pfh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)	7						c.(616-618)TCG>TTG		protein kinase D2 isoform A							37.0	40.0	39.0					19																	47207801		2203	4299	6502	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47207801G>A	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.617C>T	19.37:g.47207801G>A	ENSP00000291281:p.Ser206Leu		OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PRKD2_uc002pfg.2_Missense_Mutation_p.S49L|PRKD2_uc002pfi.2_Missense_Mutation_p.S206L|PRKD2_uc002pfj.2_Missense_Mutation_p.S206L|PRKD2_uc010xye.1_Missense_Mutation_p.S206L|PRKD2_uc002pfk.2_Missense_Mutation_p.S49L	p.S206L	NM_001079881	NP_001073350	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	5	959	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	206					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.617C>T	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225927	0.39300	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.67523	-0.27;-0.27	5.26	5.26	0.73747	.	0.463445	0.18924	N	0.127385	T	0.52885	0.1762	N	0.22421	0.69	0.53005	D	0.999966	B;B	0.12013	0.003;0.005	B;B	0.10450	0.003;0.005	T	0.49390	-0.8945	10	0.41790	T	0.15	-22.2042	12.711	0.57089	0.0:0.0:0.835:0.165	.	206;206	E7ER94;Q9BZL6	.;KPCD2_HUMAN	L	206	ENSP00000291281:S206L;ENSP00000393978:S206L	ENSP00000291281:S206L	S	-	2	0	PRKD2	51899641	1.000000	0.71417	0.842000	0.33263	0.083000	0.17756	5.775000	0.68915	2.447000	0.82792	0.313000	0.20887	TCG		0.657	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457		24	55	0	0	0	0.003954	0	24	55		
ARHGAP35	2909	broad.mit.edu	37	19	47425167	47425167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47425167C>T	ENST00000404338.3	+	1	3235	c.3235C>T	c.(3235-3237)Cag>Tag	p.Q1079*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1079					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.Q1079*(2)									CTGGCTGCCTCAGGATGGGTT	0.478																																						uc010ekv.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	central_nervous_system(1)	1						c.(3235-3237)CAG>TAG		glucocorticoid receptor DNA binding factor 1							42.0	41.0	41.0					19																	47425167		1971	4151	6122	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47425167C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3235C>T	19.37:g.47425167C>T	ENSP00000385720:p.Gln1079*						p.Q1079*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	3235	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1079					A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.3235C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	39	7.687590	0.98434	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.76	4.66	0.58398	.	0.509560	0.22575	N	0.058295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-3.1737	5.7691	0.18243	0.1329:0.6408:0.1442:0.0821	.	.	.	.	X	1079	.	ENSP00000324820:Q1079X	Q	+	1	0	ARHGAP35	52117007	0.000000	0.05858	0.956000	0.39512	0.995000	0.86356	0.187000	0.16998	2.726000	0.93360	0.655000	0.94253	CAG		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		28	24	0	0	0	0.00632	0	28	24		
DHX34	9704	broad.mit.edu	37	19	47856690	47856690	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:47856690C>G	ENST00000328771.4	+	2	752	c.403C>G	c.(403-405)Cga>Gga	p.R135G		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	135					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R135G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		TGAGTTCCGCCGAGCCCTGTT	0.652																																						uc010xyn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|upper_aerodigestive_tract(1)	5						c.(403-405)CGA>GGA		DEAH (Asp-Glu-Ala-His) box polypeptide 34							63.0	60.0	61.0					19																	47856690		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856690C>G	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.403C>G	19.37:g.47856690C>G	ENSP00000331907:p.Arg135Gly					DHX34_uc010elc.1_Missense_Mutation_p.R135G	p.R135G	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	744	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	135					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.403C>G	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676271	0.14841	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02737	4.18	5.79	4.73	0.59995	.	1.109410	0.07040	N	0.829982	T	0.03305	0.0096	L	0.29908	0.895	0.23304	N	0.997947	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.41520	-0.9504	10	0.44086	T	0.13	0.2826	7.0737	0.25193	0.3101:0.6112:0.0:0.0787	.	135;135	Q14147;B4E3G3	DHX34_HUMAN;.	G	135	ENSP00000331907:R135G	ENSP00000257252:R135G	R	+	1	2	DHX34	52548530	0.000000	0.05858	0.871000	0.34182	0.810000	0.45777	-0.410000	0.07151	1.399000	0.46721	0.555000	0.69702	CGA		0.652	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681		10	119	0	0	0	0.010729	0	10	119		
KDELR1	10945	broad.mit.edu	37	19	48892915	48892915	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:48892915G>A	ENST00000330720.2	-	3	440	c.246C>T	c.(244-246)ttC>ttT	p.F82F	KDELR1_ENST00000597017.1_Silent_p.F20F	NM_006801.2	NP_006792.1	P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	82					intracellular protein transport (GO:0006886)|protein retention in ER lumen (GO:0006621)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	KDEL sequence binding (GO:0005046)	p.F82F(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AAGTAGCTTTGAACTTGCTAT	0.532																																						uc002pjb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(244-246)TTC>TTT		KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum							164.0	123.0	137.0					19																	48892915		2203	4300	6503	SO:0001819	synonymous_variant	10945				intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity	g.chr19:48892915G>A	X55885	CCDS12718.1	19q13.3	2008-05-02				ENSG00000105438			6304	protein-coding gene	gene with protein product		131235				2172835	Standard	NM_006801		Approved	ERD2.1, ERD2, HDEL	uc002pjb.1	P24390		ENST00000330720.2:c.246C>T	19.37:g.48892915G>A						KDELR1_uc002pja.1_Silent_p.F20F	p.F82F	NM_006801	NP_006792	P24390	ERD21_HUMAN		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)	3	441	-		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)	82			Cytoplasmic (Potential).		B2R6N4|Q54A39|Q8NBW7	Silent	SNP	ENST00000330720.2	37	c.246C>T	CCDS12718.1																																																																																				0.532	KDELR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465708.1				12	74	0	0	0	0.010729	0	12	74		
FAM83E	54854	broad.mit.edu	37	19	49113235	49113235	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49113235C>T	ENST00000263266.3	-	3	845	c.656G>A	c.(655-657)cGg>cAg	p.R219Q		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	219								p.R219Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		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;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGCAGCCCCGCACGACACG	0.627																																						uc002pjn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(655-657)CGG>CAG		hypothetical protein LOC54854							25.0	30.0	28.0					19																	49113235		2138	4239	6377	SO:0001583	missense	54854							g.chr19:49113235C>T	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.656G>A	19.37:g.49113235C>T	ENSP00000263266:p.Arg219Gln						p.R219Q	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	3	721	-		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)	219					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.656G>A	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465318	0.26335	.	.	ENSG00000105523	ENST00000263266	T	0.10668	2.85	4.66	-0.0868	0.13680	.	0.448234	0.21618	N	0.071690	T	0.04770	0.0129	N	0.24115	0.695	0.09310	N	1	B	0.28552	0.215	B	0.21151	0.033	T	0.38457	-0.9660	10	0.20046	T	0.44	-21.6168	3.214	0.06692	0.1857:0.4951:0.0:0.3192	.	219	Q2M2I3	FA83E_HUMAN	Q	219	ENSP00000263266:R219Q	ENSP00000263266:R219Q	R	-	2	0	FAM83E	53805047	0.000000	0.05858	0.808000	0.32385	0.871000	0.50021	0.099000	0.15210	-0.094000	0.12374	0.555000	0.69702	CGG		0.627	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1		NM_017708		24	15	0	0	0	0.003954	0	24	15		
BAX	581	broad.mit.edu	37	19	49458852	49458852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49458852C>T	ENST00000345358.7	+	2	134	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	BAX_ENST00000415969.2_Nonsense_Mutation_p.Q28*|BAX_ENST00000354470.3_Nonsense_Mutation_p.Q28*|BAX_ENST00000293288.8_Nonsense_Mutation_p.Q28*|BAX_ENST00000391871.3_Intron|BAX_ENST00000539787.1_Nonsense_Mutation_p.Q28*	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	28					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q28*(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CCTTTTGCTTCAGGGGTGAGT	0.527																																						uc002plk.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(82-84)CAG>TAG		BCL2-associated X protein isoform alpha							141.0	125.0	130.0					19																	49458852		2203	4300	6503	SO:0001587	stop_gained	581				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	g.chr19:49458852C>T		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.82C>T	19.37:g.49458852C>T	ENSP00000263262:p.Gln28*					BAX_uc002plf.1_Nonsense_Mutation_p.Q28*|BAX_uc002plg.1_Intron|BAX_uc002plh.1_Intron|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Nonsense_Mutation_p.Q28*|BAX_uc002pll.2_Nonsense_Mutation_p.Q28*|BAX_uc002plm.2_Intron	p.Q28*	NM_138761	NP_620116	Q07812	BAX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)	2	151	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	28					A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Nonsense_Mutation	SNP	ENST00000345358.7	37	c.82C>T	CCDS12742.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325441	0.95708	.	.	ENSG00000087088	ENST00000539787;ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288	.	.	.	4.03	2.98	0.34508	.	0.326328	0.31897	N	0.006895	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-10.5035	9.1656	0.37050	0.2168:0.7832:0.0:0.0	.	.	.	.	X	28	.	ENSP00000293288:Q28X	Q	+	1	0	BAX	54150664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.896000	0.28377	1.263000	0.44181	0.563000	0.77884	CAG		0.527	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1		NM_138763		52	59	0	0	0	0.00361	0	52	59		
BAX	581	broad.mit.edu	37	19	49464129	49464129	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49464129C>T	ENST00000345358.7	+	5	484	c.432C>T	c.(430-432)ctC>ctT	p.L144L	BAX_ENST00000415969.2_Silent_p.L144L|BAX_ENST00000354470.3_Silent_p.L95L|BAX_ENST00000293288.8_Silent_p.L144L|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000539787.1_3'UTR	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L144L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TGGACTTCCTCCGGGAGCGGC	0.642																																						uc002plk.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(430-432)CTC>CTT		BCL2-associated X protein isoform alpha							94.0	82.0	86.0					19																	49464129		2203	4300	6503	SO:0001819	synonymous_variant	581				activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	g.chr19:49464129C>T		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.432C>T	19.37:g.49464129C>T						BAX_uc002plf.1_Silent_p.L144L|BAX_uc002plg.1_Silent_p.L107L|BAX_uc002plh.1_Silent_p.L66L|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Silent_p.L144L|BAX_uc002pll.2_Silent_p.L95L|BAX_uc002plm.2_Silent_p.L66L	p.L144L	NM_138761	NP_620116	Q07812	BAX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)	5	501	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	144					A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Silent	SNP	ENST00000345358.7	37	c.432C>T	CCDS12742.1	.	.	.	.	.	.	.	.	.	.	C	7.365	0.625697	0.14257	.	.	ENSG00000087088	ENST00000506183	.	.	.	3.13	0.843	0.18935	.	.	.	.	.	T	0.51295	0.1666	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37663	-0.9696	4	.	.	.	-10.6591	5.2663	0.15601	0.0:0.7062:0.0:0.2938	.	.	.	.	F	78	.	.	S	+	2	0	BAX	54155941	0.965000	0.33210	1.000000	0.80357	0.832000	0.47134	-0.132000	0.10467	0.200000	0.20447	0.563000	0.77884	TCC		0.642	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1		NM_138763		45	46	0	0	0	0.013114	0	45	46		
RUVBL2	10856	broad.mit.edu	37	19	49510338	49510338	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:49510338C>T	ENST00000595090.1	+	5	793	c.329C>T	c.(328-330)tCc>tTc	p.S110F	RUVBL2_ENST00000413176.2_Missense_Mutation_p.S65F|RUVBL2_ENST00000601968.1_Missense_Mutation_p.S65F	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	110					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)	p.S110F(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GAAATCTTCTCCCTGGAGATG	0.657																																						uc002plr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(328-330)TCC>TTC		RuvB-like 2							41.0	46.0	45.0					19																	49510338		2025	4181	6206	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49510338C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.329C>T	19.37:g.49510338C>T	ENSP00000473172:p.Ser110Phe					RUVBL2_uc002plq.1_Missense_Mutation_p.S65F|RUVBL2_uc010yab.1_Missense_Mutation_p.S110F|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.S65F|RUVBL2_uc010yac.1_Missense_Mutation_p.S65F	p.S110F	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	5	342	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	110					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.329C>T	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113496	0.94339	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.69040	-0.37;0.05	5.61	5.61	0.85477	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89952	0.6864	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93683	0.7000	10	0.87932	D	0	-29.1189	17.5007	0.87731	0.0:1.0:0.0:0.0	.	110;110;76	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	F	110;65	ENSP00000221413:S110F;ENSP00000413890:S65F	ENSP00000221413:S110F	S	+	2	0	RUVBL2	54202150	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.102000	0.77005	2.815000	0.96918	0.561000	0.74099	TCC		0.657	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1				15	71	0	0	0	0.007413	0	15	71		
MED25	81857	broad.mit.edu	37	19	50334032	50334032	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:50334032C>G	ENST00000312865.6	+	9	1042	c.989C>G	c.(988-990)cCa>cGa	p.P330R	MED25_ENST00000538643.1_Missense_Mutation_p.P117R	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	330	Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.P330R(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CAACTACCCCCAGGACCCCCT	0.706																																					GBM(51;894 1657 37868)	uc002ppw.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(988-990)CCA>CGA		mediator complex subunit 25							39.0	43.0	42.0					19																	50334032		2203	4299	6502	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50334032C>G	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.989C>G	19.37:g.50334032C>G	ENSP00000326767:p.Pro330Arg					MED25_uc010ybe.1_Missense_Mutation_p.P117R|MED25_uc002ppx.1_Missense_Mutation_p.P111R	p.P330R	NM_030973	NP_112235	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	9	1042	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	330			Pro-rich.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.989C>G	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748238	0.30955	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070	D;D	0.87029	-2.2;-2.2	5.72	2.18	0.27775	Mediator complex, subunit Med25, synapsin 1 (1);	0.178907	0.49305	D	0.000154	T	0.77525	0.4143	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.005;0.009;0.005	T	0.65717	-0.6100	10	0.39692	T	0.17	.	10.1185	0.42605	0.5234:0.3593:0.1173:0.0	.	117;330;330	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	R	330;330;330;330;330;117;65	ENSP00000326767:P330R;ENSP00000437496:P117R	ENSP00000326767:P330R	P	+	2	0	MED25	55025844	0.033000	0.19621	0.051000	0.19133	0.922000	0.55478	1.160000	0.31761	0.680000	0.31366	0.655000	0.94253	CCA		0.706	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1		NM_030973		40	38	0	0	0	0.00623	0	40	38		
PPP2R1A	5518	broad.mit.edu	37	19	52724377	52724377	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:52724377C>T	ENST00000322088.6	+	12	1567	c.1509C>T	c.(1507-1509)ttC>ttT	p.F503F	PPP2R1A_ENST00000444322.2_Silent_p.F448F|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Silent_p.F324F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	503	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.F503F(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTACGCTCTTCTGCATCAATG	0.592			Mis		clear cell ovarian carcinoma																																	uc002pyp.2		NaN		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - coding silent(1)		urinary_tract(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1507-1509)TTC>TTT		alpha isoform of regulatory subunit A, protein							156.0	129.0	138.0					19																	52724377		2203	4300	6503	SO:0001819	synonymous_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52724377C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1509C>T	19.37:g.52724377C>T						PPP2R1A_uc010ydk.1_Silent_p.F448F|PPP2R1A_uc002pyq.2_Silent_p.F324F	p.F503F	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	12	1668	+			503			PP2A subunit C binding.|HEAT 13.		Q13773|Q6ICQ3|Q96DH3	Silent	SNP	ENST00000322088.6	37	c.1509C>T	CCDS12849.1																																																																																				0.592	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2		NM_014225		57	64	0	0	0	0.00361	0	57	64		
ZNF808	388558	broad.mit.edu	37	19	53057257	53057257	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:53057257G>C	ENST00000359798.4	+	5	1268	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R363T(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGCCATCAAAGACTTCATACT	0.383																																						uc010epq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1087-1089)AGA>ACA		zinc finger protein 808							96.0	101.0	99.0					19																	53057257		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057257G>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1088G>C	19.37:g.53057257G>C	ENSP00000352846:p.Arg363Thr					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.R363T	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1265	+			363			C2H2-type 5.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1088G>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	12.31	1.899181	0.33535	.	.	ENSG00000198482	ENST00000359798	T	0.25414	1.8	1.5	0.0709	0.14380	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29556	0.0737	L	0.45051	1.395	0.21915	N	0.999475	D	0.61697	0.99	P	0.57101	0.813	T	0.13361	-1.0512	9	0.51188	T	0.08	.	4.0964	0.09993	0.1821:0.247:0.5709:0.0	.	363	Q8N4W9	ZN808_HUMAN	T	363	ENSP00000352846:R363T	ENSP00000352846:R363T	R	+	2	0	ZNF808	57749069	0.000000	0.05858	0.052000	0.19188	0.063000	0.16089	-4.040000	0.00307	0.798000	0.33994	0.195000	0.17529	AGA		0.383	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3		NM_001039886		7	121	0	0	0	0.001984	0	7	121		
BIRC8	112401	broad.mit.edu	37	19	53793212	53793212	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:53793212G>C	ENST00000426466.1	-	1	1663	c.416C>G	c.(415-417)tCt>tGt	p.S139C		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	139					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.S139C(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GTTGCTCCCAGATGTTTGAAT	0.383																																						uc002qbk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(415-417)TCT>TGT		baculoviral IAP repeat-containing 8							135.0	138.0	137.0					19																	53793212		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793212G>C	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.416C>G	19.37:g.53793212G>C	ENSP00000412957:p.Ser139Cys						p.S139C	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1664	-			139					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.416C>G	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	G	6.887	0.533164	0.13188	.	.	ENSG00000163098	ENST00000426466	T	0.37915	1.17	0.502	0.502	0.16932	.	.	.	.	.	T	0.35068	0.0919	M	0.75447	2.3	0.30237	N	0.795322	B	0.26635	0.155	B	0.23716	0.048	T	0.40572	-0.9556	9	0.56958	D	0.05	-7.3925	6.9506	0.24542	1.0E-4:0.0:0.9999:0.0	.	139	Q96P09	BIRC8_HUMAN	C	139	ENSP00000412957:S139C	ENSP00000412957:S139C	S	-	2	0	BIRC8	58485024	0.999000	0.42202	0.157000	0.22605	0.146000	0.21551	1.225000	0.32551	0.578000	0.29487	0.420000	0.28162	TCT		0.383	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1		NM_033341		23	210	0	0	0	0.00278	0	23	210		
KIR2DL3	3804	broad.mit.edu	37	19	55263168	55263168	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55263168C>G	ENST00000342376.3	+	6	814	c.783C>G	c.(781-783)ctC>ctG	p.L261L	KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	261					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.L261L(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		tcctcctcctcttctttctcc	0.512																																						uc002qgv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(781-783)CTC>CTG		killer cell immunoglobulin-like receptor, two							139.0	114.0	123.0					19																	55263168		1409	2561	3970	SO:0001819	synonymous_variant	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55263168C>G	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.783C>G	19.37:g.55263168C>G						KIR2DL3_uc002qgx.2_Silent_p.L261L|KIR2DL3_uc002qgy.2_Silent_p.L163L|KIR2DL3_uc010erw.1_Silent_p.L261L|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron	p.L261L	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	6	801	+			261			Helical; (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	ENST00000342376.3	37	c.783C>G	CCDS33107.1																																																																																				0.512	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1				21	133	0	0	0	0.010504	0	21	133		
NLRP7	199713	broad.mit.edu	37	19	55441934	55441934	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55441934T>A	ENST00000590030.1	-	8	2783	c.2743A>T	c.(2743-2745)Ata>Tta	p.I915L	NLRP7_ENST00000328092.5_Missense_Mutation_p.I887L|NLRP7_ENST00000592784.1_Missense_Mutation_p.I915L|NLRP7_ENST00000446217.1_Missense_Mutation_p.I943L|NLRP7_ENST00000340844.2_Missense_Mutation_p.I915L|NLRP7_ENST00000448121.2_Missense_Mutation_p.I887L|NLRP7_ENST00000588756.1_Missense_Mutation_p.I915L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	915							ATP binding (GO:0005524)	p.I887L(1)|p.I915L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCACGAGCTATCTGGTTGATA	0.443																																						uc002qih.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2743-2745)ATA>TTA		NACHT, leucine rich repeat and PYD containing 7							133.0	128.0	130.0					19																	55441934		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55441934T>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2743A>T	19.37:g.55441934T>A	ENSP00000465520:p.Ile915Leu					NLRP7_uc002qig.3_Missense_Mutation_p.I887L|NLRP7_uc002qii.3_Missense_Mutation_p.I915L|NLRP7_uc010esk.2_Missense_Mutation_p.I915L|NLRP7_uc010esl.2_Missense_Mutation_p.I943L	p.I915L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	2819	-			915			LRR 8.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2743A>T	CCDS33109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.013|8.013	0.757917|0.757917	0.15846|0.15846	.|.	.|.	ENSG00000167634|ENSG00000167634	ENST00000399724|ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217	.|T;T;T	.|0.52295	.|0.67;0.67;0.67	2.44|2.44	1.34|1.34	0.21922|0.21922	.|.	.|.	.|.	.|.	.|.	T|T	0.38983|0.38983	0.1061|0.1061	N|N	0.11845|0.11845	0.185|0.185	0.09310|0.09310	N|N	1|1	.|D;P;P;D	.|0.89917	.|0.966;0.849;0.937;1.0	.|P;B;P;D	.|0.85130	.|0.873;0.39;0.523;0.997	T|T	0.30297|0.30297	-0.9983|-0.9983	6|9	0.32370|0.05525	T|T	0.25|0.97	.|.	5.25|5.25	0.15517|0.15517	0.0:0.0:0.3032:0.6968|0.0:0.0:0.3032:0.6968	.|.	.|943;915;915;887	.|E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.|.;.;NALP7_HUMAN;.	V|L	656|915;887;915;943	.|ENSP00000409137:I887L;ENSP00000339491:I915L;ENSP00000414273:I943L	ENSP00000399301:D656V|ENSP00000329568:I915L	D|I	-|-	2|1	0|0	NLRP7|NLRP7	60133746|60133746	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.008000|0.008000	0.06430|0.06430	-0.033000|-0.033000	0.12246|0.12246	0.329000|0.329000	0.23460|0.23460	0.529000|0.529000	0.55759|0.55759	GAT|ATA		0.443	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176		14	154	0	0	0	0.001855	0	14	154		
PPP1R12C	54776	broad.mit.edu	37	19	55624149	55624149	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:55624149C>T	ENST00000263433.3	-	2	351	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PPP1R12C_ENST00000435544.2_Silent_p.E38E|PPP1R12C_ENST00000376393.2_Silent_p.E112E	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C									p.E112E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CCTCCAGGTTCTCATCAATGC	0.647																																						uc002qix.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(334-336)GAG>GAA		protein phosphatase 1, regulatory subunit 12C							66.0	62.0	64.0					19																	55624149		2203	4300	6503	SO:0001819	synonymous_variant	54776					cytoplasm		g.chr19:55624149C>T	AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.336G>A	19.37:g.55624149C>T						PPP1R12C_uc010yfs.1_Silent_p.E38E|PPP1R12C_uc002qiy.2_Silent_p.E112E	p.E112E	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)	2	352	-			112			ANK 1.			Silent	SNP	ENST00000263433.3	37	c.336G>A	CCDS12916.1																																																																																				0.647	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2		NM_017607		8	90	0	0	0	0.004482	0	8	90		
U2AF2	11338	broad.mit.edu	37	19	56180822	56180822	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:56180822C>G	ENST00000308924.4	+	11	1097	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E	U2AF2_ENST00000450554.2_Missense_Mutation_p.Q349E|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.Q185E			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	353					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q353E(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCATCAATCAGACGCCTGT	0.662																																						uc002qlu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1057-1059)CAG>GAG		U2 (RNU2) small nuclear RNA auxiliary factor 2							44.0	48.0	47.0					19																	56180822		2203	4299	6502	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56180822C>G	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1057C>G	19.37:g.56180822C>G	ENSP00000307863:p.Gln353Glu					U2AF2_uc002qlt.2_Missense_Mutation_p.Q349E	p.Q353E	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	11	2112	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	353					Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.1057C>G	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613810	0.28712	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.10763	2.88;2.84	4.39	4.39	0.52855	.	0.135906	0.50627	D	0.000111	T	0.11707	0.0285	L	0.59436	1.845	0.58432	D	0.999998	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.08472	-1.0720	10	0.06625	T	0.88	-12.4658	16.1033	0.81203	0.0:1.0:0.0:0.0	.	353;349	P26368;P26368-2	U2AF2_HUMAN;.	E	353;349	ENSP00000307863:Q353E;ENSP00000388475:Q349E	ENSP00000307863:Q353E	Q	+	1	0	U2AF2	60872634	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.207000	0.58480	2.194000	0.70268	0.591000	0.81541	CAG		0.662	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1		NM_007279		19	23	0	0	0	0.007413	0	19	23		
ZNF671	79891	broad.mit.edu	37	19	58232514	58232514	+	Missense_Mutation	SNP	C	C	G	rs144079819		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58232514C>G	ENST00000317398.6	-	4	1035	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.E216Q|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E314Q(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCGTTACACTCATAAGGCCTT	0.493																																						uc002qpz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(940-942)GAG>CAG		zinc finger protein 671							100.0	94.0	96.0					19																	58232514		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58232514C>G		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.940G>C	19.37:g.58232514C>G	ENSP00000321848:p.Glu314Gln					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.E237Q|ZNF671_uc010yhf.1_Missense_Mutation_p.E216Q	p.E314Q	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1039	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	314			C2H2-type 3.		A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.940G>C	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211578	0.39102	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.20200	2.09;2.09	1.94	1.94	0.25998	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26412	0.0645	L	0.31294	0.92	0.09310	N	1	D	0.65815	0.995	D	0.63597	0.916	T	0.07083	-1.0791	9	0.46703	T	0.11	.	5.7164	0.17962	0.3188:0.6811:0.0:0.0	.	314	Q8TAW3	ZN671_HUMAN	Q	314;216	ENSP00000321848:E314Q;ENSP00000338670:E216Q	ENSP00000321848:E314Q	E	-	1	0	ZNF671	62924326	0.000000	0.05858	0.993000	0.49108	0.948000	0.59901	-4.814000	0.00182	1.398000	0.46701	0.467000	0.42956	GAG		0.493	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1		NM_024833		12	126	0	0	0	0.001368	0	12	126		
ZNF671	79891	broad.mit.edu	37	19	58233027	58233027	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58233027C>G	ENST00000317398.6	-	4	522	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.E45Q|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000594803.1_5'Flank	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E143Q(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATGCTCTGCTCAGAAGATACC	0.468																																						uc002qpz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(427-429)GAG>CAG		zinc finger protein 671							109.0	104.0	106.0					19																	58233027		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58233027C>G		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.427G>C	19.37:g.58233027C>G	ENSP00000321848:p.Glu143Gln					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.E66Q|ZNF671_uc010yhf.1_Missense_Mutation_p.E45Q	p.E143Q	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	526	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	143					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.427G>C	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	C	8.485	0.860638	0.17178	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.08720	3.31;3.06	1.66	0.585	0.17428	.	.	.	.	.	T	0.07234	0.0183	L	0.41415	1.275	0.09310	N	0.999994	D	0.63046	0.992	P	0.45538	0.484	T	0.32534	-0.9903	9	0.27082	T	0.32	.	3.9258	0.09263	0.0:0.7659:0.0:0.2341	.	143	Q8TAW3	ZN671_HUMAN	Q	143;45	ENSP00000321848:E143Q;ENSP00000338670:E45Q	ENSP00000321848:E143Q	E	-	1	0	ZNF671	62924839	0.000000	0.05858	0.014000	0.15608	0.098000	0.18820	-0.051000	0.11885	0.257000	0.21650	0.313000	0.20887	GAG		0.468	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1		NM_024833		11	92	0	0	0	0.001368	0	11	92		
ZNF544	27300	broad.mit.edu	37	19	58772988	58772988	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:58772988C>T	ENST00000596652.1	+	6	1250	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S311L|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.S311L|ZNF544_ENST00000269829.4_Missense_Mutation_p.S339L|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.S197L|ZNF544_ENST00000600044.1_Missense_Mutation_p.S311L|ZNF544_ENST00000596825.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S339L(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CCCATGGCCTCATCTTTTTCT	0.473																																						uc010euo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1015-1017)TCA>TTA		zinc finger protein 544							84.0	78.0	80.0					19																	58772988		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58772988C>T	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1016C>T	19.37:g.58772988C>T	ENSP00000469635:p.Ser339Leu					ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.S311L|ZNF544_uc010yhy.1_Missense_Mutation_p.S311L|ZNF544_uc002qrt.3_Missense_Mutation_p.S197L|ZNF544_uc002qru.3_Missense_Mutation_p.S197L|uc002qrx.1_Intron	p.S339L	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1490	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	339					A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1016C>T	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583075	0.28268	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.17691	2.26;2.26	2.98	0.554	0.17241	.	.	.	.	.	T	0.14787	0.0357	L	0.59436	1.845	0.09310	N	1	P;B;B	0.43477	0.808;0.273;0.225	B;B;B	0.39590	0.304;0.067;0.067	T	0.18366	-1.0339	9	0.52906	T	0.07	.	3.5637	0.07892	0.367:0.4958:0.0:0.1372	.	311;311;339	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	L	339;311;3	ENSP00000269829:S339L;ENSP00000394341:S311L	ENSP00000269829:S339L	S	+	2	0	ZNF544	63464800	0.018000	0.18449	0.149000	0.22428	0.112000	0.19704	1.340000	0.33896	0.599000	0.29845	-0.126000	0.14955	TCA		0.473	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1		NM_014480		22	62	0	0	0	0.002299	0	22	62		
TRIM28	10155	broad.mit.edu	37	19	59060782	59060782	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr19:59060782G>A	ENST00000253024.5	+	13	2036	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	TRIM28_ENST00000341753.6_Missense_Mutation_p.E501K	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	583					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E583K(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCTCTTGCGGAGGGTCCTGG	0.652																																						uc002qtg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)|breast(1)	3						c.(1747-1749)GAG>AAG		tripartite motif-containing 28 protein							84.0	90.0	88.0					19																	59060782		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59060782G>A		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1747G>A	19.37:g.59060782G>A	ENSP00000253024:p.Glu583Lys					TRIM28_uc010eut.1_Missense_Mutation_p.E501K|TRIM28_uc002qth.1_Missense_Mutation_p.E198K	p.E583K	NM_005762	NP_005753	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	13	2036	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	583					O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.1747G>A	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234569	0.58886	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.67523	-0.07;-0.27	4.94	4.94	0.65067	.	0.000000	0.50627	D	0.000101	T	0.63640	0.2528	N	0.14661	0.345	0.41882	D	0.990321	D;D;D	0.58268	0.982;0.971;0.97	P;B;P	0.54965	0.765;0.291;0.587	T	0.69851	-0.5033	10	0.59425	D	0.04	-26.4566	16.0419	0.80691	0.0:0.0:1.0:0.0	.	501;583;583	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	K	583;501	ENSP00000253024:E583K;ENSP00000342232:E501K	ENSP00000253024:E583K	E	+	1	0	TRIM28	63752594	0.999000	0.42202	0.930000	0.37139	0.144000	0.21451	3.619000	0.54196	2.467000	0.83353	0.543000	0.68304	GAG		0.652	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1		NM_005762		25	159	0	0	0	0.003954	0	25	159		
GRHL1	29841	broad.mit.edu	37	2	10126392	10126392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:10126392C>T	ENST00000324907.9	+	9	1387	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	GRHL1_ENST00000324883.5_Silent_p.I228I|GRHL1_ENST00000405379.2_Silent_p.I417I	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	417					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I417I(1)|p.I228I(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		ACTGCCAGATCAAGGTCTTCT	0.468																																						uc002raa.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	pancreas(1)|skin(1)	2						c.(1249-1251)ATC>ATT		grainyhead-like 1							160.0	165.0	163.0					2																	10126392		2203	4300	6503	SO:0001819	synonymous_variant	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10126392C>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1251C>T	2.37:g.10126392C>T						GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.I228I|GRHL1_uc010yjb.1_Silent_p.I266I	p.I417I	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	9	1422	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		417					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Silent	SNP	ENST00000324907.9	37	c.1251C>T	CCDS33144.2																																																																																				0.468	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2		NM_014552		41	219	0	0	0	0.010771	0	41	219		
ROCK2	9475	broad.mit.edu	37	2	11427791	11427791	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:11427791G>C	ENST00000315872.6	-	2	661	c.213C>G	c.(211-213)ttC>ttG	p.F71L	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	71					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.F71L(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ATCTATTTAAGAAATTATCTA	0.264																																						uc002rbd.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	stomach(2)|skin(2)	4						c.(211-213)TTC>TTG		Rho-associated, coiled-coil containing protein							28.0	27.0	27.0					2																	11427791		1785	4027	5812	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11427791G>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.213C>G	2.37:g.11427791G>C	ENSP00000317985:p.Phe71Leu						p.F71L	NM_004850	NP_004841	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	2	662	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		71					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.213C>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636286	0.47049	.	.	ENSG00000134318	ENST00000315872	T	0.69306	-0.39	4.64	2.84	0.33178	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.89214	3.015	0.80722	D	1	D	0.57899	0.981	P	0.54664	0.758	T	0.76838	-0.2811	10	0.87932	D	0	.	7.4218	0.27075	0.2751:0.0:0.7249:0.0	.	71	O75116	ROCK2_HUMAN	L	71	ENSP00000317985:F71L	ENSP00000261535:F71L	F	-	3	2	ROCK2	11345242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.178000	0.31981	0.410000	0.25675	0.591000	0.81541	TTC		0.264	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3				3	13	0	0	0	0.004672	0	3	13		
ATAD2B	54454	broad.mit.edu	37	2	24011422	24011422	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:24011422G>C	ENST00000238789.5	-	20	3079	c.2736C>G	c.(2734-2736)ctC>ctG	p.L912L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	912						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.L912L(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCTGATTGAGAATCAATT	0.358																																						uc002rek.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(2734-2736)CTC>CTG		ATPase family, AAA domain containing 2B							148.0	136.0	139.0					2																	24011422		1836	4077	5913	SO:0001819	synonymous_variant	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24011422G>C	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2736C>G	2.37:g.24011422G>C						ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Silent_p.L157L|ATAD2B_uc002rej.3_Silent_p.L80L	p.L912L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			20	3030	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		912					B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	ENST00000238789.5	37	c.2736C>G	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	8.601	0.886871	0.17540	.	.	ENSG00000119778	ENST00000381024	.	.	.	5.7	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8801	0.52571	0.2002:0.0:0.7998:0.0	.	.	.	.	X	193	.	.	S	-	2	0	ATAD2B	23864926	0.952000	0.32445	1.000000	0.80357	0.999000	0.98932	-0.016000	0.12613	1.558000	0.49541	0.655000	0.94253	TCA		0.358	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1		NM_017552		4	44	0	0	0	0.009096	0	4	44		
CAPN13	92291	broad.mit.edu	37	2	30976031	30976031	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:30976031G>A	ENST00000295055.8	-	10	1151	c.975C>T	c.(973-975)atC>atT	p.I325I	CAPN13_ENST00000534090.2_Silent_p.I325I	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	325	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.I325I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TAAACATGGCGATGAATTTCT	0.438																																						uc002rnn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(973-975)ATC>ATT		calpain 13							189.0	173.0	178.0					2																	30976031		1910	4118	6028	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30976031G>A		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.975C>T	2.37:g.30976031G>A						CAPN13_uc002rnp.1_Silent_p.I325I	p.I325I	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			10	1151	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		325			Calpain catalytic.		Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.975C>T	CCDS46252.1																																																																																				0.438	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2		NM_144575		5	113	0	0	0	0.000602	0	5	113		
LTBP1	4052	broad.mit.edu	37	2	33412110	33412110	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:33412110C>T	ENST00000404816.2	+	6	1742	c.1389C>T	c.(1387-1389)acC>acT	p.T463T	LTBP1_ENST00000404525.1_Silent_p.T137T|LTBP1_ENST00000402934.1_Silent_p.T137T|LTBP1_ENST00000390003.4_Silent_p.T137T|LTBP1_ENST00000418533.2_Silent_p.T137T|LTBP1_ENST00000354476.3_Silent_p.T463T|LTBP1_ENST00000407925.1_Silent_p.T137T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	463					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.T463T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAACACATACCTTGCCTCTGA	0.517																																						uc002ros.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(1387-1389)ACC>ACT		latent transforming growth factor beta binding							96.0	81.0	86.0					2																	33412110		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33412110C>T		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1389C>T	2.37:g.33412110C>T						LTBP1_uc002rot.2_Silent_p.T137T|LTBP1_uc002rou.2_Silent_p.T137T|LTBP1_uc002rov.2_Silent_p.T137T|LTBP1_uc010ymz.1_Silent_p.T137T|LTBP1_uc010yna.1_Silent_p.T137T	p.T463T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			6	1389	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	463					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.1389C>T	CCDS33177.2																																																																																				0.517	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2		NM_206943		13	31	0	0	0	0.003163	0	13	31		
VIT	5212	broad.mit.edu	37	2	37000939	37000939	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37000939T>C	ENST00000389975.3	+	8	987	c.685T>C	c.(685-687)Tgg>Cgg	p.W229R	VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379242.3_Missense_Mutation_p.W229R|VIT_ENST00000379241.3_Missense_Mutation_p.W229R|VIT_ENST00000401530.1_Missense_Mutation_p.W229R|VIT_ENST00000404084.1_Intron	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	229					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.W229R(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TACAGATCTCTGGTCCACTGC	0.408																																						uc002rpl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(685-687)TGG>CGG		vitrin							79.0	70.0	73.0					2																	37000939		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37000939T>C	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.685T>C	2.37:g.37000939T>C	ENSP00000374625:p.Trp229Arg					VIT_uc010ynf.1_Missense_Mutation_p.W158R|VIT_uc002rpm.2_Missense_Mutation_p.W222R|VIT_uc010ezv.2_Missense_Mutation_p.W222R|VIT_uc010ezw.2_Missense_Mutation_p.W222R	p.W229R	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			8	906	+		all_hematologic(82;0.248)	229					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.685T>C	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	T	2.490	-0.317549	0.05386	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000402257;ENST00000379241;ENST00000401530	T;T;T;T	0.63744	-0.06;0.03;0.1;0.02	5.13	2.56	0.30785	.	0.773969	0.12022	N	0.506795	T	0.44477	0.1295	L	0.34521	1.04	0.31141	N	0.706656	B;B;B;B;B	0.09022	0.002;0.0;0.002;0.0;0.0	B;B;B;B;B	0.08055	0.002;0.0;0.003;0.0;0.0	T	0.39921	-0.9590	10	0.20046	T	0.44	-1.9336	4.4033	0.11397	0.2502:0.0:0.1691:0.5808	.	165;229;229;229;229	B4DRU4;E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;.;VITRN_HUMAN;.	R	229;229;165;229;229	ENSP00000368544:W229R;ENSP00000374625:W229R;ENSP00000368543:W229R;ENSP00000385658:W229R	ENSP00000368543:W229R	W	+	1	0	VIT	36854443	0.991000	0.36638	0.997000	0.53966	0.536000	0.34869	1.090000	0.30902	0.780000	0.33566	0.482000	0.46254	TGG		0.408	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding					8	7	0	0	0	0.00308	0	8	7		
HEATR5B	54497	broad.mit.edu	37	2	37283642	37283642	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37283642G>C	ENST00000233099.5	-	16	2435	c.2340C>G	c.(2338-2340)gtC>gtG	p.V780V	HEATR5B_ENST00000354531.2_Silent_p.V780V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	780						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.V780V(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAGCATCAATGACTGAGACTC	0.433																																						uc002rpp.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|skin(1)	ovary(5)|skin(2)|breast(1)	8						c.(2338-2340)GTC>GTG		HEAT repeat containing 5B							92.0	99.0	96.0					2																	37283642		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37283642G>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2340C>G	2.37:g.37283642G>C							p.V780V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			16	2436	-		all_hematologic(82;0.21)	780					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.2340C>G	CCDS33181.1																																																																																				0.433	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1		NM_019024		23	83	0	0	0	0.00333	0	23	83		
HEATR5B	54497	broad.mit.edu	37	2	37284473	37284473	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:37284473G>A	ENST00000233099.5	-	15	2305	c.2210C>T	c.(2209-2211)tCa>tTa	p.S737L	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S737L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	737						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.S737L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTCTTCAATTGATTTATGATC	0.358																																						uc002rpp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(2)|breast(1)	8						c.(2209-2211)TCA>TTA		HEAT repeat containing 5B							141.0	145.0	144.0					2																	37284473		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37284473G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2210C>T	2.37:g.37284473G>A	ENSP00000233099:p.Ser737Leu						p.S737L	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			15	2306	-		all_hematologic(82;0.21)	737					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2210C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358645	0.24598	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.41758	0.99;0.99	5.81	4.93	0.64822	Armadillo-type fold (1);	0.057898	0.64402	D	0.000001	T	0.19927	0.0479	N	0.03115	-0.41	0.53688	D	0.999974	B	0.17268	0.021	B	0.14023	0.01	T	0.08330	-1.0727	10	0.08599	T	0.76	-16.5601	14.5325	0.67936	0.0698:0.0:0.9302:0.0	.	737	Q9P2D3	HTR5B_HUMAN	L	737	ENSP00000233099:S737L;ENSP00000346531:S737L	ENSP00000233099:S737L	S	-	2	0	HEATR5B	37137977	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.788000	0.69020	1.454000	0.47793	0.650000	0.86243	TCA		0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1		NM_019024		4	36	0	0	0	0.000602	0	4	36		
SOS1	6654	broad.mit.edu	37	2	39234309	39234309	+	Missense_Mutation	SNP	C	C	T	rs397517159		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:39234309C>T	ENST00000426016.1	-	17	2622	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	SOS1_ENST00000395038.2_Missense_Mutation_p.E846K|SOS1_ENST00000402219.2_Missense_Mutation_p.E846K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	846	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.		E -> K (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E846K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ACTCTTTCTTCTAAATTTTCA	0.308									Noonan syndrome																													uc002rrk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10	GRCh37	CM070272	SOS1	M		c.(2536-2538)GAA>AAA		son of sevenless homolog 1							107.0	114.0	111.0					2																	39234309		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39234309C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2536G>A	2.37:g.39234309C>T	ENSP00000387784:p.Glu846Lys					SOS1_uc002rrj.3_Missense_Mutation_p.E460K	p.E846K	NM_005633	NP_005624	Q07889	SOS1_HUMAN			16	2577	-		all_hematologic(82;0.21)	846		E -> K (in NS4).	Ras-GEF.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.2536G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068798	0.76301	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.27720	1.65;1.65;1.65	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	N	0.04260	-0.245	0.80722	D	1	B	0.29253	0.239	B	0.39706	0.307	T	0.21211	-1.0252	10	0.33141	T	0.24	.	19.7147	0.96110	0.0:1.0:0.0:0.0	.	846	Q07889	SOS1_HUMAN	K	846;846;578;846;846	ENSP00000387784:E846K;ENSP00000384675:E846K;ENSP00000378479:E846K	ENSP00000263879:E846K	E	-	1	0	SOS1	39087813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.694000	0.84235	2.660000	0.90430	0.603000	0.83216	GAA		0.308	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633		30	76	0	0	0	0.010818	0	30	76		
HAAO	23498	broad.mit.edu	37	2	42996988	42996988	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:42996988G>C	ENST00000294973.6	-	7	550	c.495C>G	c.(493-495)ctC>ctG	p.L165L		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase									p.L165L(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						GTGGCTCCTTGAGCAGCTGGT	0.637																																						uc002rst.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(493-495)CTC>CTG		3-hydroxyanthranilate 3,4-dioxygenase							107.0	95.0	99.0					2																	42996988		2203	4300	6503	SO:0001819	synonymous_variant	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:42996988G>C	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.495C>G	2.37:g.42996988G>C							p.L165L	NM_012205	NP_036337	P46952	3HAO_HUMAN			7	570	-			165			Linker (By similarity).			Silent	SNP	ENST00000294973.6	37	c.495C>G	CCDS33187.1																																																																																				0.637	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2				16	75	0	0	0	0.00499	0	16	75		
MSH2	4436	broad.mit.edu	37	2	47693913	47693913	+	Missense_Mutation	SNP	G	G	A	rs63750675		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:47693913G>A	ENST00000233146.2	+	10	1850	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	MSH2_ENST00000543555.1_Missense_Mutation_p.D477N|MSH2_ENST00000406134.1_Missense_Mutation_p.D543N	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	543					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.D543N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGTACTGTAGATATCCAGAA	0.323			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													uc002rvy.1		NaN	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	D|Mis|N|F|S	mutS homolog 2 (E. coli)			E		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		5	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)	p.?(2)	haematopoietic_and_lymphoid_tissue(3)|urinary_tract(1)|prostate(1)	large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55	GRCh37	CD045345	MSH2	D	rs63750675	c.(1627-1629)GAT>AAT	MMR	mutS homolog 2							81.0	89.0	86.0					2																	47693913		2202	4300	6502	SO:0001583	missense	4436	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47693913G>A	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1627G>A	2.37:g.47693913G>A	ENSP00000233146:p.Asp543Asn					MSH2_uc010yoh.1_Missense_Mutation_p.D477N|MSH2_uc002rvz.2_Missense_Mutation_p.D543N|MSH2_uc010fbg.2_Missense_Mutation_p.D353N|MSH2_uc010fbh.1_RNA|MSH2_uc010fbi.1_Intron	p.D543N	NM_000251	NP_000242	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1695	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	543					B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	c.1627G>A	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853641	0.91355	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.89617	-2.54;-2.54;-2.54	6.04	6.04	0.98038	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.94699	0.8290	M	0.78456	2.415	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.992	D;D;D	0.74674	0.968;0.957;0.984	D	0.93689	0.7005	10	0.51188	T	0.08	-29.4323	20.5948	0.99439	0.0:0.0:1.0:0.0	.	477;543;543	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	N	543;477;543;543;329	ENSP00000233146:D543N;ENSP00000442697:D477N;ENSP00000384199:D543N	ENSP00000233146:D543N	D	+	1	0	MSH2	47547417	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	8.947000	0.93000	2.873000	0.98535	0.563000	0.77884	GAT		0.323	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3				20	72	0	0	0	0.002299	0	20	72		
FOXN2	3344	broad.mit.edu	37	2	48573510	48573510	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:48573510G>C	ENST00000340553.3	+	3	418	c.157G>C	c.(157-159)Gat>Cat	p.D53H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	53					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D53H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TGAGTCAGCAGATGATGAACT	0.448																																						uc002rwh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(157-159)GAT>CAT		T-cell leukemia virus enhancer factor							131.0	126.0	127.0					2																	48573510		2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573510G>C		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.157G>C	2.37:g.48573510G>C	ENSP00000343633:p.Asp53His						p.D53H	NM_002158	NP_002149	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	472	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	53					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.157G>C	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480429	0.84747	.	.	ENSG00000170802	ENST00000413569;ENST00000340553	D;D	0.97089	-4.18;-4.24	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.98169	0.9395	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99038	1.0823	10	0.87932	D	0	.	18.6832	0.91554	0.0:0.0:1.0:0.0	.	53	P32314	FOXN2_HUMAN	H	53	ENSP00000388486:D53H;ENSP00000343633:D53H	ENSP00000343633:D53H	D	+	1	0	FOXN2	48427014	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.381000	0.97205	2.741000	0.93983	0.591000	0.81541	GAT		0.448	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3		NM_002158		11	62	0	0	0	0.001855	0	11	62		
ERLEC1	27248	broad.mit.edu	37	2	54035547	54035547	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:54035547G>A	ENST00000185150.4	+	9	1122	c.991G>A	c.(991-993)Gat>Aat	p.D331N	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Intron|ERLEC1_ENST00000405123.3_Missense_Mutation_p.D331N|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	331				D -> G (in Ref. 3; BAA91974). {ECO:0000305}.	ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.D331N(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CAAATTGACAGATGACCAACT	0.398																																						uc002rxl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(991-993)GAT>AAT		erlectin isoform 1							103.0	107.0	106.0					2																	54035547		2203	4300	6503	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54035547G>A	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.991G>A	2.37:g.54035547G>A	ENSP00000185150:p.Asp331Asn					ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.D331N|ERLEC1_uc002rxn.2_Intron	p.D331N	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			9	1271	+			331	D -> G (in Ref. 3; BAA91974).				B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.991G>A	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333523	0.95758	.	.	ENSG00000068912	ENST00000405123;ENST00000185150	T;T	0.52754	0.65;0.71	5.02	5.02	0.67125	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.972;0.999	T	0.57665	-0.7772	9	0.17369	T	0.5	-10.621	18.6995	0.91615	0.0:0.0:1.0:0.0	.	331;331	B5MC72;Q96DZ1	.;ERLEC_HUMAN	N	331	ENSP00000385629:D331N;ENSP00000185150:D331N	ENSP00000185150:D331N	D	+	1	0	ERLEC1	53889051	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.684000	0.98659	2.479000	0.83701	0.491000	0.48974	GAT		0.398	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1		NM_015701		14	57	0	0	0	0.00245	0	14	57		
FBXO48	554251	broad.mit.edu	37	2	68691345	68691345	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:68691345C>G	ENST00000377957.3	-	4	871	c.464G>C	c.(463-465)aGa>aCa	p.R155T		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	155								p.R155T(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TTCCCCTTATCTTTCCAGTTC	0.358																																						uc002seo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(463-465)AGA>ACA		F-box protein 48							195.0	195.0	195.0					2																	68691345		2203	4300	6503	SO:0001583	missense	554251							g.chr2:68691345C>G	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.464G>C	2.37:g.68691345C>G	ENSP00000367193:p.Arg155Thr						p.R155T	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN			4	872	-			155						Missense_Mutation	SNP	ENST00000377957.3	37	c.464G>C	CCDS33213.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519831	0.85495	.	.	ENSG00000204923	ENST00000377957	T	0.63913	-0.07	5.67	5.67	0.87782	.	0.058369	0.64402	D	0.000002	T	0.77322	0.4113	L	0.59436	1.845	0.50813	D	0.999893	D	0.89917	1.0	D	0.85130	0.997	T	0.78526	-0.2170	10	0.87932	D	0	-22.1428	17.9536	0.89061	0.0:1.0:0.0:0.0	.	155	Q5FWF7	FBX48_HUMAN	T	155	ENSP00000367193:R155T	ENSP00000367193:R155T	R	-	2	0	FBXO48	68544849	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.022000	0.70839	2.677000	0.91161	0.655000	0.94253	AGA		0.358	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2		NM_001024680		37	185	0	0	0	0.006999	0	37	185		
EXOC6B	23233	broad.mit.edu	37	2	72968519	72968519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:72968519C>T	ENST00000272427.6	-	2	323	c.193G>A	c.(193-195)Gag>Aag	p.E65K	EXOC6B_ENST00000410104.1_Missense_Mutation_p.E65K	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	65					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)		p.E65K(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CACATTTTCTCAATTTCTCGG	0.408																																						uc010fep.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(193-195)GAG>AAG		SEC15-like 2							161.0	153.0	156.0					2																	72968519		1849	4101	5950	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72968519C>T	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.193G>A	2.37:g.72968519C>T	ENSP00000272427:p.Glu65Lys					EXOC6B_uc002sij.2_Missense_Mutation_p.E65K	p.E65K	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN			2	331	-			65			Potential.		B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.193G>A	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405137	0.96051	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.31510	1.49;1.49	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.76574	2.34	0.80722	D	1	P;D	0.76494	0.956;0.999	D;D	0.75484	0.931;0.986	T	0.61197	-0.7111	10	0.66056	D	0.02	.	17.2198	0.86954	0.0:1.0:0.0:0.0	.	65;65	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	K	65	ENSP00000272427:E65K;ENSP00000386698:E65K	ENSP00000272427:E65K	E	-	1	0	EXOC6B	72822027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.729000	0.84864	2.389000	0.81357	0.561000	0.74099	GAG		0.408	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1		XM_039570		12	114	0	0	0	0.003163	0	12	114		
EIF2AK3	9451	broad.mit.edu	37	2	88874949	88874949	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:88874949G>A	ENST00000303236.3	-	13	2353	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	EIF2AK3_ENST00000470706.1_5'Flank|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Silent_p.L533L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	684	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.L684L(1)		ovary(3)	3						TAGGAGAGCTGAGTGGCCAGT	0.408																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(2050-2052)CTC>CTT		eukaryotic translation initiation factor 2-alpha							68.0	68.0	68.0					2																	88874949		2203	4299	6502	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874949G>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2052C>T	2.37:g.88874949G>A							p.L684L	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			13	2254	-			684			Cytoplasmic (Potential).|Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.2052C>T	CCDS33241.1																																																																																				0.408	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2		NM_004836		6	54	0	0	0	0.001168	0	6	54		
KANSL3	55683	broad.mit.edu	37	2	97276603	97276603	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:97276603G>C	ENST00000431828.1	-	11	1255	c.1179C>G	c.(1177-1179)ctC>ctG	p.L393L	KANSL3_ENST00000440133.1_Silent_p.L187L|KANSL3_ENST00000441706.2_Silent_p.L306L|KANSL3_ENST00000599854.1_Silent_p.L306L|KANSL3_ENST00000487070.1_5'UTR			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	393					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.L393L(2)									TCATATCCAAGAGGGGATCAT	0.458																																						uc002swn.3		NaN																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|urinary_tract(1)		0						c.(1177-1179)CTC>CTG		hypothetical protein LOC55683 isoform a							154.0	149.0	150.0					2																	97276603		1914	4135	6049	SO:0001819	synonymous_variant	55683							g.chr2:97276603G>C	BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1179C>G	2.37:g.97276603G>C						KIAA1310_uc002swh.3_Silent_p.L281L|KIAA1310_uc002swi.3_Silent_p.L294L|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Silent_p.L306L|KIAA1310_uc010fhz.2_Silent_p.L187L|KIAA1310_uc002swl.3_Silent_p.L294L|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Silent_p.L187L|KIAA1310_uc002swp.1_Silent_p.L294L|KIAA1310_uc002swq.1_Silent_p.L165L|KIAA1310_uc010fhy.1_Silent_p.L294L	p.L393L	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN			11	1325	-			393					A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	c.1179C>G	CCDS46361.1																																																																																				0.458	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2		NM_017991		19	92	0	0	0	0.008871	0	19	92		
CNNM3	26505	broad.mit.edu	37	2	97483169	97483169	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:97483169C>G	ENST00000305510.3	+	1	1183	c.1155C>G	c.(1153-1155)ttC>ttG	p.F385L	CNNM3_ENST00000377060.3_Missense_Mutation_p.F385L	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	385					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.F385L(1)		NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TCACTCGTTTCTACAACCATC	0.592																																						uc002swy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1153-1155)TTC>TTG		cyclin M3 isoform 1							164.0	141.0	149.0					2																	97483169		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97483169C>G	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1155C>G	2.37:g.97483169C>G	ENSP00000305449:p.Phe385Leu					CNNM3_uc002swz.2_Missense_Mutation_p.F385L	p.F385L	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN			1	1179	+			385					B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1155C>G	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685662	0.47991	.	.	ENSG00000168763	ENST00000377060;ENST00000424641;ENST00000305510	T;T	0.74947	-0.89;-0.89	4.44	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.80929	0.4718	M	0.64170	1.965	0.54753	D	0.99998	D;D	0.89917	1.0;0.969	D;D	0.85130	0.997;0.926	T	0.77574	-0.2537	10	0.52906	T	0.07	-27.7898	7.1889	0.25814	0.0:0.7143:0.0:0.2857	.	385;385	Q8NE01-2;Q8NE01	.;CNNM3_HUMAN	L	385	ENSP00000366260:F385L;ENSP00000305449:F385L	ENSP00000305449:F385L	F	+	3	2	CNNM3	96846896	1.000000	0.71417	0.972000	0.41901	0.020000	0.10135	3.388000	0.52509	0.333000	0.23563	0.561000	0.74099	TTC		0.592	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2		NM_017623		11	71	0	0	0	0.008291	0	11	71		
AFF3	3899	broad.mit.edu	37	2	100199373	100199373	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:100199373C>T	ENST00000409236.2	-	15	2792	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	AFF3_ENST00000356421.2_Missense_Mutation_p.E919K|AFF3_ENST00000409579.1_Missense_Mutation_p.E919K|AFF3_ENST00000317233.4_Missense_Mutation_p.E894K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	894					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E919K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTTAAGTCCTCGCTGGTGTAT	0.463																																						uc002tag.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2680-2682)GAG>AAG		AF4/FMR2 family, member 3 isoform 1							166.0	151.0	156.0					2																	100199373		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199373C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2680G>A	2.37:g.100199373C>T	ENSP00000387207:p.Glu894Lys					AFF3_uc002taf.2_Missense_Mutation_p.E919K|AFF3_uc010fiq.1_Missense_Mutation_p.E894K|AFF3_uc010yvr.1_Missense_Mutation_p.E1047K|AFF3_uc002tah.1_Missense_Mutation_p.E919K	p.E894K	NM_002285	NP_002276	P51826	AFF3_HUMAN			16	2916	-			894					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2680G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346244	0.41599	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.83	4.95	0.65309	.	0.077409	0.49305	D	0.000147	T	0.44871	0.1314	L	0.34521	1.04	0.38021	D	0.934856	P;D	0.56287	0.599;0.975	B;B	0.39840	0.223;0.311	T	0.47611	-0.9104	10	0.07813	T	0.8	.	12.6553	0.56784	0.0:0.9245:0.0:0.0755	.	894;919	P51826;P51826-2	AFF3_HUMAN;.	K	894;919;919;894	ENSP00000317421:E894K;ENSP00000348793:E919K;ENSP00000386834:E919K;ENSP00000387207:E894K	ENSP00000317421:E894K	E	-	1	0	AFF3	99565805	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	1.906000	0.39887	2.770000	0.95276	0.655000	0.94253	GAG		0.463	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		13	52	0	0	0	0.003163	0	13	52		
MERTK	10461	broad.mit.edu	37	2	112740456	112740456	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740456G>A	ENST00000295408.4	+	8	1439	c.1182G>A	c.(1180-1182)ctG>ctA	p.L394L	MERTK_ENST00000409780.1_Silent_p.L218L|MERTK_ENST00000421804.2_Silent_p.L394L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	394	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L394L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTGTGTTTCTGAATGAATCTA	0.448																																						uc002thk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1180-1182)CTG>CTA		MER receptor tyrosine kinase precursor							193.0	186.0	188.0					2																	112740456		2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112740456G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1182G>A	2.37:g.112740456G>A						MERTK_uc002thl.1_Silent_p.L218L	p.L394L	NM_006343	NP_006334	Q12866	MERTK_HUMAN			8	1304	+			394			Fibronectin type-III 2.|Extracellular (Potential).		Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.1182G>A	CCDS2094.1																																																																																				0.448	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				36	123	0	0	0	0.004289	0	36	123		
MERTK	10461	broad.mit.edu	37	2	112740460	112740460	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740460G>A	ENST00000295408.4	+	8	1443	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	MERTK_ENST00000409780.1_Missense_Mutation_p.E220K|MERTK_ENST00000421804.2_Missense_Mutation_p.E396K			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	396	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E396K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTTTCTGAATGAATCTAGTGA	0.453																																						uc002thk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1186-1188)GAA>AAA		MER receptor tyrosine kinase precursor							193.0	186.0	189.0					2																	112740460		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112740460G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1186G>A	2.37:g.112740460G>A	ENSP00000295408:p.Glu396Lys					MERTK_uc002thl.1_Missense_Mutation_p.E220K	p.E396K	NM_006343	NP_006334	Q12866	MERTK_HUMAN			8	1308	+			396			Fibronectin type-III 2.|Extracellular (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1186G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	2.641	-0.284059	0.05642	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.53423	0.62;0.62;0.62	4.66	0.711	0.18162	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.267770	0.05989	N	0.645610	T	0.36635	0.0974	L	0.41824	1.3	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.23868	-1.0176	10	0.11794	T	0.64	-1.9772	9.0006	0.36079	0.3241:0.0:0.6759:0.0	.	396	Q12866	MERTK_HUMAN	K	396;396;220	ENSP00000295408:E396K;ENSP00000389152:E396K;ENSP00000387277:E220K	ENSP00000295408:E396K	E	+	1	0	MERTK	112456931	0.978000	0.34361	0.033000	0.17914	0.328000	0.28507	1.893000	0.39758	0.149000	0.19098	0.508000	0.49915	GAA		0.453	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				34	116	0	0	0	0.003271	0	34	116		
MERTK	10461	broad.mit.edu	37	2	112740501	112740501	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740501G>A	ENST00000295408.4	+	8	1484	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	MERTK_ENST00000409780.1_Silent_p.P233P|MERTK_ENST00000421804.2_Silent_p.P409P			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	409	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P409P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGAAGCCTCCGACTAAGCAGC	0.463																																						uc002thk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1225-1227)CCG>CCA		MER receptor tyrosine kinase precursor							159.0	152.0	155.0					2																	112740501		2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112740501G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1227G>A	2.37:g.112740501G>A						MERTK_uc002thl.1_Silent_p.P233P	p.P409P	NM_006343	NP_006334	Q12866	MERTK_HUMAN			8	1349	+			409			Fibronectin type-III 2.|Extracellular (Potential).		Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.1227G>A	CCDS2094.1																																																																																				0.463	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				20	84	0	0	0	0.00632	0	20	84		
MERTK	10461	broad.mit.edu	37	2	112740537	112740537	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:112740537G>C	ENST00000295408.4	+	8	1520	c.1263G>C	c.(1261-1263)cgG>cgC	p.R421R	MERTK_ENST00000409780.1_Silent_p.R245R|MERTK_ENST00000421804.2_Silent_p.R421R			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	421	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R421R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGGGCTACCGGATATCCCACG	0.453																																						uc002thk.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|skin(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1261-1263)CGG>CGC		MER receptor tyrosine kinase precursor							129.0	123.0	125.0					2																	112740537		2203	4300	6503	SO:0001819	synonymous_variant	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112740537G>C	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1263G>C	2.37:g.112740537G>C						MERTK_uc002thl.1_Silent_p.R245R	p.R421R	NM_006343	NP_006334	Q12866	MERTK_HUMAN			8	1385	+			421			Fibronectin type-III 2.|Extracellular (Potential).		Q9HBB4	Silent	SNP	ENST00000295408.4	37	c.1263G>C	CCDS2094.1																																																																																				0.453	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2				13	68	0	0	0	0.00333	0	13	68		
IWS1	55677	broad.mit.edu	37	2	128260414	128260414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:128260414C>T	ENST00000295321.4	-	5	1703	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	IWS1_ENST00000455721.2_Missense_Mutation_p.D489N|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'Flank	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	482	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D482N(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCCTCTTCATCACCAGATTCT	0.308																																						uc002ton.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1444-1446)GAT>AAT		IWS1 homolog							116.0	116.0	116.0					2																	128260414		2202	4300	6502	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128260414C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1444G>A	2.37:g.128260414C>T	ENSP00000295321:p.Asp482Asn					IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank	p.D482N	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	5	1747	-	Colorectal(110;0.1)		482			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1444G>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929654	0.92389	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.64618	1.67;-0.11	5.55	5.55	0.83447	.	0.128217	0.53938	D	0.000059	T	0.77624	0.4158	M	0.63843	1.955	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	T	0.74802	-0.3541	10	0.36615	T	0.2	-37.0323	19.1022	0.93277	0.0:1.0:0.0:0.0	.	482	Q96ST2	IWS1_HUMAN	N	482;435;489	ENSP00000295321:D482N;ENSP00000399245:D489N	ENSP00000295321:D482N	D	-	1	0	IWS1	127976884	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.298000	0.72763	2.617000	0.88574	0.557000	0.71058	GAT		0.308	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2		NM_017969		13	36	0	0	0	0.00245	0	13	36		
UGGT1	56886	broad.mit.edu	37	2	128918082	128918082	+	Missense_Mutation	SNP	G	G	A	rs572713543		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:128918082G>A	ENST00000259253.6	+	24	2658	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N	UGGT1_ENST00000375990.3_Missense_Mutation_p.D847N	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	871					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)	p.D871N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTCCAAAATGGATTTCATTTT	0.403																																						uc002tps.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2611-2613)GAT>AAT		UDP-glucose ceramide glucosyltransferase-like 1							127.0	126.0	126.0					2																	128918082		2203	4300	6503	SO:0001583	missense	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128918082G>A	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2611G>A	2.37:g.128918082G>A	ENSP00000259253:p.Asp871Asn					UGGT1_uc010fme.1_Missense_Mutation_p.D746N|UGGT1_uc002tpr.2_Missense_Mutation_p.D847N	p.D871N	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			24	2789	+			871					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	ENST00000259253.6	37	c.2611G>A	CCDS2154.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418689	0.42918	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.08458	3.1;3.09	6.01	6.01	0.97437	.	0.044593	0.85682	D	0.000000	T	0.08403	0.0209	N	0.21194	0.64	0.58432	D	0.999999	B;B	0.22909	0.077;0.002	B;B	0.24269	0.052;0.002	T	0.40478	-0.9561	9	.	.	.	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	847;871	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	N	847;871	ENSP00000365158:D847N;ENSP00000259253:D871N	.	D	+	1	0	UGGT1	128634552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.945000	0.70226	2.861000	0.98227	0.650000	0.86243	GAT		0.403	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120		5	40	0	0	0	0.001984	0	5	40		
RAB6C	84084	broad.mit.edu	37	2	130738132	130738132	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:130738132G>A	ENST00000410061.2	+	1	898	c.444G>A	c.(442-444)ctG>ctA	p.L148L	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	148	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L148L(1)		large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					CCAAAGGGCTGAATGTTACGT	0.463																																						uc002tpx.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)	1						c.(442-444)CTG>CTA		RAB6C, member RAS oncogene family							192.0	183.0	186.0					2																	130738132		2203	4300	6503	SO:0001819	synonymous_variant	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738132G>A	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.444G>A	2.37:g.130738132G>A						uc002tpw.1_5'Flank	p.L148L	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN			1	898	+	Colorectal(110;0.1)		148					Q53RU3|Q6FIF7|Q9P128	Silent	SNP	ENST00000410061.2	37	c.444G>A	CCDS46408.1																																																																																				0.463	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1		NM_032144		35	158	0	0	0	0.004878	0	35	158		
NCKAP5	344148	broad.mit.edu	37	2	133543084	133543084	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:133543084C>T	ENST00000409261.1	-	14	1673	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E434K	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	434								p.E434K(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATATTCCTTCATTCGAGTTC	0.458																																						uc002ttp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1300-1302)GAA>AAA		Nck-associated protein 5 isoform 1							81.0	75.0	76.0					2																	133543084		1832	4090	5922	SO:0001583	missense	344148						protein binding	g.chr2:133543084C>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1300G>A	2.37:g.133543084C>T	ENSP00000387128:p.Glu434Lys					NCKAP5_uc002ttq.2_Intron	p.E434K	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	1674	-			434					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.1300G>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.815945	0.90790	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.27402	1.67;1.67	5.38	5.38	0.77491	.	0.000000	0.35291	U	0.003311	T	0.45915	0.1366	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.39840	-0.9594	10	0.87932	D	0	.	17.5158	0.87773	0.0:1.0:0.0:0.0	.	434	O14513	NCKP5_HUMAN	K	434	ENSP00000387128:E434K;ENSP00000380603:E434K	ENSP00000380603:E434K	E	-	1	0	NCKAP5	133259554	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.540000	0.73861	2.790000	0.95986	0.645000	0.84053	GAA		0.458	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		12	55	0	0	0	0.001855	0	12	55		
ZEB2	9839	broad.mit.edu	37	2	145161507	145161507	+	Silent	SNP	C	C	T	rs398124283		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:145161507C>T	ENST00000558170.2	-	6	1967	c.783G>A	c.(781-783)gtG>gtA	p.V261V	ZEB2_ENST00000539609.3_Silent_p.V237V|ZEB2_ENST00000409487.3_Silent_p.V261V|ZEB2_ENST00000303660.4_Silent_p.V261V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	261					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.V261V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCTTGTGTGTCACCATATGCC	0.473																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(781-783)GTG>GTA		zinc finger homeobox 1b							181.0	178.0	179.0					2																	145161507		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145161507C>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.783G>A	2.37:g.145161507C>T						ZEB2_uc002tvv.2_Silent_p.V255V|ZEB2_uc010zbm.1_Silent_p.V232V|ZEB2_uc010fnp.2_Silent_p.V169V|ZEB2_uc010fnq.1_Silent_p.V290V	p.V261V	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1263	-			261			C2H2-type 2.		A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.783G>A	CCDS2186.1																																																																																				0.473	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5		NM_014795		10	97	0	0	0	0.010729	0	10	97		
NEB	4703	broad.mit.edu	37	2	152496556	152496556	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:152496556G>C	ENST00000172853.10	-	62	8851	c.8704C>G	c.(8704-8706)Ctc>Gtc	p.L2902V	NEB_ENST00000409198.1_Missense_Mutation_p.L2902V|NEB_ENST00000604864.1_Missense_Mutation_p.L2902V|NEB_ENST00000603639.1_Missense_Mutation_p.L2902V|NEB_ENST00000427231.2_Missense_Mutation_p.L2902V|NEB_ENST00000397345.3_Missense_Mutation_p.L2902V			P20929	NEBU_HUMAN	nebulin	2902					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.L2902V(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCCACTGGAGATCAGACTTG	0.378																																						uc010fnx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(8704-8706)CTC>GTC		nebulin isoform 3							113.0	117.0	116.0					2																	152496556		1883	4117	6000	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152496556G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8704C>G	2.37:g.152496556G>C	ENSP00000172853:p.Leu2902Val					NEB_uc002txu.2_Missense_Mutation_p.L6V	p.L2902V	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	62	8895	-			2902			Nebulin 78.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8704C>G		.	.	.	.	.	.	.	.	.	.	G	24.1	4.496379	0.85069	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.52526	0.75;0.66;0.66;0.75	5.46	5.46	0.80206	.	0.258524	0.32258	N	0.006357	T	0.76292	0.3967	M	0.92169	3.28	0.80722	D	1	D	0.59357	0.985	D	0.69307	0.963	T	0.79813	-0.1645	10	0.44086	T	0.13	.	19.3061	0.94163	0.0:0.0:1.0:0.0	.	2902	P20929	NEBU_HUMAN	V	2902	ENSP00000386259:L2902V;ENSP00000380505:L2902V;ENSP00000416578:L2902V;ENSP00000172853:L2902V	ENSP00000172853:L2902V	L	-	1	0	NEB	152204802	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	3.016000	0.49607	2.576000	0.86940	0.655000	0.94253	CTC		0.378	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		25	89	0	0	0	0.007291	0	25	89		
SCN3A	6328	broad.mit.edu	37	2	165947272	165947272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:165947272C>T	ENST00000360093.3	-	28	5882	c.5391G>A	c.(5389-5391)tgG>tgA	p.W1797*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W1797*|SCN3A_ENST00000540861.1_Nonsense_Mutation_p.W280*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W1748*|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1797					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.W1797*(2)|p.W1748*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAACTTTTCCCAAACCTCAT	0.463																																						uc002ucx.2		NaN																	3	Substitution - Nonsense(3)		urinary_tract(2)|skin(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(5389-5391)TGG>TGA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						136.0	134.0	135.0					2																	165947272		2203	4300	6503	SO:0001587	stop_gained	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947272C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5391G>A	2.37:g.165947272C>T	ENSP00000353206:p.Trp1797*					SCN3A_uc010zcy.1_Nonsense_Mutation_p.W280*|SCN3A_uc002ucy.2_Nonsense_Mutation_p.W1748*|SCN3A_uc002ucz.2_Nonsense_Mutation_p.W1748*	p.W1797*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			28	5883	-			1797					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	ENST00000360093.3	37	c.5391G>A		.	.	.	.	.	.	.	.	.	.	C	48	13.976922	0.99773	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1797;1797;1748;280	.	ENSP00000283254:W1797X	W	-	3	0	SCN3A	165655518	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGG		0.463	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922		8	72	0	0	0	0.00308	0	8	72		
TTC21B	79809	broad.mit.edu	37	2	166747011	166747011	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:166747011C>G	ENST00000243344.7	-	24	3378	c.3241G>C	c.(3241-3243)Gaa>Caa	p.E1081Q	TTC21B_ENST00000536175.1_Missense_Mutation_p.E19Q	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1081					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.E1081Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCCAGGTTTTCAAATACTTCA	0.358																																						uc002udk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(3241-3243)GAA>CAA		tetratricopeptide repeat domain 21B							52.0	52.0	52.0					2																	166747011		2203	4299	6502	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166747011C>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3241G>C	2.37:g.166747011C>G	ENSP00000243344:p.Glu1081Gln					TTC21B_uc002udj.1_RNA	p.E1081Q	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			24	3374	-			1081					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3241G>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552432	0.86127	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.66815	-0.23;-0.07	5.81	5.81	0.92471	.	0.043598	0.85682	D	0.000000	T	0.81997	0.4941	M	0.83603	2.65	0.80722	D	1	D	0.65815	0.995	P	0.58928	0.848	T	0.82448	-0.0452	10	0.51188	T	0.08	-29.6451	20.0776	0.97750	0.0:1.0:0.0:0.0	.	1081	Q7Z4L5	TT21B_HUMAN	Q	19;1081	ENSP00000438692:E19Q;ENSP00000243344:E1081Q	ENSP00000243344:E1081Q	E	-	1	0	TTC21B	166455257	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.802000	0.85969	2.766000	0.95052	0.637000	0.83480	GAA		0.358	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1		NM_024753		16	23	0	0	0	0.004007	0	16	23		
BBS5	129880	broad.mit.edu	37	2	170359659	170359659	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:170359659G>C	ENST00000295240.3	+	10	1247	c.871G>C	c.(871-873)Gac>Cac	p.D291H	BBS5_ENST00000392663.2_Missense_Mutation_p.D270H|BBS5_ENST00000554017.1_Missense_Mutation_p.D291H|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D291H	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	291					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.D291H(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGTAGAAATAGACTCTGATGG	0.373									Bardet-Biedl syndrome																													uc010zdh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(871-873)GAC>CAC		Bardet-Biedl syndrome 5							94.0	90.0	91.0					2																	170359659		2203	4300	6503	SO:0001583	missense	10324		Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170359659G>C	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.871G>C	2.37:g.170359659G>C	ENSP00000295240:p.Asp291His					BBS5_uc002uet.2_Missense_Mutation_p.D291H|BBS5_uc010fpw.2_Missense_Mutation_p.D270H	p.D291H	NM_152384	NP_689597	O60662	KBTBA_HUMAN			10	929	+			356			Kelch 1.		D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	37	c.871G>C	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968104	0.74131	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.80393	-0.94;-0.94;-1.37;-0.94	5.28	4.4	0.53042	.	0.093701	0.64402	D	0.000001	T	0.81678	0.4873	L	0.52905	1.665	0.54753	D	0.99998	P;B;P	0.40282	0.711;0.374;0.602	P;B;B	0.47528	0.549;0.277;0.283	T	0.81439	-0.0932	10	0.48119	T	0.1	-3.4586	13.6166	0.62112	0.075:0.0:0.925:0.0	.	291;270;291	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	H	291;291;270;291	ENSP00000295240:D291H;ENSP00000452313:D291H;ENSP00000376431:D270H;ENSP00000424363:D291H	ENSP00000295240:D291H	D	+	1	0	BBS5;RP11-724O16.1	170067905	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.200000	0.77838	1.222000	0.43521	0.585000	0.79938	GAC		0.373	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2		NM_152384		9	17	0	0	0	0.004482	0	9	17		
CCDC173	129881	broad.mit.edu	37	2	170506887	170506887	+	Silent	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:170506887T>C	ENST00000447353.1	-	7	1209	c.1104A>G	c.(1102-1104)gaA>gaG	p.E368E		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	368								p.E362E(1)									CTTTGTTTTTTTCATCTTTTT	0.308																																						uc002ufe.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1102-1104)GAA>GAG		hypothetical protein LOC129881							95.0	82.0	86.0					2																	170506887		1805	4071	5876	SO:0001819	synonymous_variant	129881							g.chr2:170506887T>C	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1104A>G	2.37:g.170506887T>C							p.E368E	NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN			7	1198	-			368			Potential.		Q6PJF6	Silent	SNP	ENST00000447353.1	37	c.1104A>G	CCDS46445.1																																																																																				0.308	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2		NM_001085447		2	16	0	0	0	0.004672	0	2	16		
TTN	7273	broad.mit.edu	37	2	179402447	179402447	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179402447C>T	ENST00000591111.1	-	305	94788	c.94564G>A	c.(94564-94566)Gag>Aag	p.E31522K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30595K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E24290K|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E33163K|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24223K|TTN_ENST00000460472.2_Missense_Mutation_p.E24098K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31522	Ig-like 140.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E24290K(1)|p.E24098K(1)|p.E30593K(1)|p.E30595K(1)|p.E24223K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGTTCCTCTGTCATTACT	0.428																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(91783-91785)GAG>AAG		titin isoform N2-A							70.0	72.0	71.0					2																	179402447		1956	4151	6107	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179402447C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94564G>A	2.37:g.179402447C>T	ENSP00000465570:p.Glu31522Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24290K|TTN_uc010zfi.1_Missense_Mutation_p.E24223K|TTN_uc010zfj.1_Missense_Mutation_p.E24098K	p.E30595K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	92007	-			31522					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.91783G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	4.005168	0.74932	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54515	0.1863	N	0.17312	0.475	0.53005	D	0.99996	B;B;B;B	0.31503	0.118;0.118;0.326;0.074	B;B;B;B	0.26416	0.069;0.069;0.069;0.069	T	0.57248	-0.7844	9	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	24098;24223;24290;31522	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	30595;24098;24290;24223;24095	ENSP00000343764:E30595K;ENSP00000434586:E24098K;ENSP00000340554:E24290K;ENSP00000352154:E24223K	ENSP00000340554:E24290K	E	-	1	0	TTN	179110693	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.023000	0.70848	2.797000	0.96272	0.563000	0.77884	GAG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		9	31	0	0	0	0.006214	0	9	31		
TTN	7273	broad.mit.edu	37	2	179481355	179481355	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179481355G>A	ENST00000591111.1	-	207	43464	c.43240C>T	c.(43240-43242)Cgc>Tgc	p.R14414C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13487C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7182C|TTN_ENST00000589042.1_Missense_Mutation_p.R16055C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7115C|TTN_ENST00000460472.2_Missense_Mutation_p.R6990C|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14414					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R13487C(2)|p.R7182C(1)|p.R6990C(1)|p.R7115C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACTTGGGCGAGCTGAAAAA	0.383																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(40459-40461)CGC>TGC		titin isoform N2-A							86.0	83.0	84.0					2																	179481355		1875	4115	5990	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481355G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43240C>T	2.37:g.179481355G>A	ENSP00000465570:p.Arg14414Cys					TTN_uc010zfh.1_Missense_Mutation_p.R7182C|TTN_uc010zfi.1_Missense_Mutation_p.R7115C|TTN_uc010zfj.1_Missense_Mutation_p.R6990C	p.R13487C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		206	40683	-			14414					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.40459C>T		.	.	.	.	.	.	.	.	.	.	G	9.926	1.213377	0.22289	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.91	5.91	0.95273	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44787	0.1310	M	0.61703	1.905	0.37827	D	0.928599	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.44513	-0.9323	9	0.87932	D	0	.	16.4477	0.83947	0.0:0.1312:0.8688:0.0	.	6990;7115;7182;14414	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	13487;6990;7182;7115;6990	ENSP00000343764:R13487C;ENSP00000434586:R6990C;ENSP00000340554:R7182C;ENSP00000352154:R7115C	ENSP00000340554:R7182C	R	-	1	0	TTN	179189600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.206000	0.51098	2.793000	0.96121	0.655000	0.94253	CGC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		10	32	0	0	0	0.006214	0	10	32		
TTN	7273	broad.mit.edu	37	2	179528787	179528787	+	Intron	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:179528787C>A	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V12107L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACCGACACTTTCTTTTCA	0.383																																						uc010zfk.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(757-759)GTG>TTG		SubName: Full=Titin; Flags: Fragment;							118.0	114.0	116.0					2																	179528787		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528787C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5266G>T	2.37:g.179528787C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.V253L			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	1305	-			11465					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.757G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.74|12.74	2.027639|2.027639	0.35797|0.35797	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000425332|ENST00000541862;ENST00000392423	.|.	.|.	.|.	4.88|4.88	0.0732|0.0732	0.14389|0.14389	.|.	.|.	.|.	.|.	.|.	T|T	0.12347|0.12347	0.0300|0.0300	.|.	.|.	.|.	0.21822|0.21822	N|N	0.999524|0.999524	.|B	.|0.10296	.|0.003	.|B	.|0.08055	.|0.003	T|T	0.28202|0.28202	-1.0051|-1.0051	5|7	0.30078|0.07990	T|T	0.28|0.79	.|.	0.2048|0.2048	0.00149|0.00149	0.2111:0.2507:0.1925:0.3457|0.2111:0.2507:0.1925:0.3457	.|.	.|381	.|Q71S18	.|.	N|L	170|381;233	.|.	ENSP00000396805:K170N|ENSP00000376219:V233L	K|V	-|-	3|1	2|0	TTN|TTN	179237032|179237032	0.000000|0.000000	0.05858|0.05858	0.204000|0.204000	0.23530|0.23530	0.073000|0.073000	0.16967|0.16967	-1.824000|-1.824000	0.01708|0.01708	0.147000|0.147000	0.19030|0.19030	0.655000|0.655000	0.94253|0.94253	AAG|GTG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		9	48	1	0	1.08611e-07	0.010729	1.1424e-07	9	48		
PDE1A	5136	broad.mit.edu	37	2	183094834	183094834	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:183094834C>T	ENST00000410103.1	-	7	705	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.E174K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E208K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E192K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E208K|PDE1A_ENST00000351439.5_Missense_Mutation_p.E192K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E208K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E104K|PDE1A_ENST00000435564.1_Missense_Mutation_p.E208K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	208	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.E208K(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TAACCAACTTCTAAAGCTTCT	0.333																																						uc002uos.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)	3						c.(622-624)GAA>AAA		phosphodiesterase 1A isoform 2							107.0	104.0	105.0					2																	183094834		2203	4300	6503	SO:0001583	missense	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183094834C>T		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.622G>A	2.37:g.183094834C>T	ENSP00000387037:p.Glu208Lys					PDE1A_uc010zfp.1_Missense_Mutation_p.E104K|PDE1A_uc002uoq.1_Missense_Mutation_p.E208K|PDE1A_uc010zfq.1_Missense_Mutation_p.E208K|PDE1A_uc002uor.2_Missense_Mutation_p.E192K|PDE1A_uc002uou.2_Missense_Mutation_p.E174K	p.E208K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		7	706	-			208			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	ENST00000410103.1	37	c.622G>A	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	31	5.071977	0.93950	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.78;-0.82;-0.83;-0.81;-0.82;-0.82;-0.81	5.87	4.98	0.66077	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.046555	0.85682	D	0.000000	D	0.89357	0.6692	M	0.94021	3.485	0.80722	D	1	D;D;P;D;D	0.71674	0.997;0.987;0.956;0.987;0.998	D;P;P;D;D	0.71414	0.94;0.901;0.744;0.956;0.973	D	0.92276	0.5829	10	0.87932	D	0	.	16.0109	0.80402	0.0:0.8653:0.1347:0.0	.	104;174;208;192;208	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	K	208;174;104;192;208;192;208;208;208	ENSP00000410309:E208K;ENSP00000329112:E174K;ENSP00000439938:E104K;ENSP00000386767:E192K;ENSP00000331574:E208K;ENSP00000309269:E192K;ENSP00000387037:E208K;ENSP00000350858:E208K;ENSP00000408874:E208K	ENSP00000331574:E208K	E	-	1	0	PDE1A	182803079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.074000	0.71253	1.449000	0.47699	0.650000	0.86243	GAA		0.333	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1				6	35	0	0	0	0.001168	0	6	35		
ITGAV	3685	broad.mit.edu	37	2	187455093	187455093	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:187455093C>T	ENST00000261023.3	+	1	302	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	ITGAV_ENST00000374907.3_Missense_Mutation_p.R10C	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	10					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.R10C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GCGACGGCTGCGCCTCGGTCC	0.716																																					Melanoma(58;108 1995 6081)	uc002upq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)|skin(1)	4						c.(28-30)CGC>TGC		integrin alpha-V isoform 1 precursor							17.0	20.0	19.0					2																	187455093		2201	4296	6497	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187455093C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.28C>T	2.37:g.187455093C>T	ENSP00000261023:p.Arg10Cys					ITGAV_uc010frs.2_Missense_Mutation_p.R10C	p.R10C	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	1	304	+			10					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.28C>T	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039416	0.55003	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	D;D	0.92299	-3.01;-3.01	4.18	-0.557	0.11800	.	0.834833	0.10699	N	0.644310	D	0.82990	0.5157	L	0.39898	1.24	0.18873	N	0.999983	B;P	0.38020	0.423;0.615	B;B	0.30179	0.112;0.028	T	0.71290	-0.4637	10	0.36615	T	0.2	.	3.2694	0.06876	0.3976:0.3817:0.1301:0.0907	.	10;10	P06756-2;P06756	.;ITAV_HUMAN	C	10	ENSP00000261023:R10C;ENSP00000364042:R10C	ENSP00000261023:R10C	R	+	1	0	ITGAV	187163338	0.000000	0.05858	0.001000	0.08648	0.454000	0.32378	-0.410000	0.07151	-0.346000	0.08312	0.462000	0.41574	CGC		0.716	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2		NM_002210		5	21	0	0	0	0.000602	0	5	21		
ITGAV	3685	broad.mit.edu	37	2	187516805	187516805	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:187516805C>G	ENST00000261023.3	+	15	1768	c.1494C>G	c.(1492-1494)ctC>ctG	p.L498L	ITGAV_ENST00000374907.3_Silent_p.L462L|ITGAV_ENST00000433736.2_Silent_p.L452L|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	498					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.L498L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GAACAGCTCTCAAAGTTTCCT	0.378																																					Melanoma(58;108 1995 6081)	uc002upq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|kidney(1)|skin(1)	4						c.(1492-1494)CTC>CTG		integrin alpha-V isoform 1 precursor							63.0	66.0	65.0					2																	187516805		2203	4300	6503	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187516805C>G		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1494C>G	2.37:g.187516805C>G						ITGAV_uc010frs.2_Silent_p.L462L|ITGAV_uc010zfv.1_Silent_p.L452L	p.L498L	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	15	1770	+			498			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.1494C>G	CCDS2292.1																																																																																				0.378	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2		NM_002210		8	16	0	0	0	0.004482	0	8	16		
RFTN2	130132	broad.mit.edu	37	2	198498569	198498569	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:198498569C>T	ENST00000295049.4	-	4	1127	c.591G>A	c.(589-591)tgG>tgA	p.W197*		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	197					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.W197*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TCCCTTCATTCCAACTTCTAC	0.408																																						uc002uuo.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(589-591)TGG>TGA		raftlin family member 2							240.0	216.0	224.0					2																	198498569		2203	4300	6503	SO:0001587	stop_gained	130132					plasma membrane		g.chr2:198498569C>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.591G>A	2.37:g.198498569C>T	ENSP00000295049:p.Trp197*						p.W197*	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			4	993	-			197					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Nonsense_Mutation	SNP	ENST00000295049.4	37	c.591G>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	42	9.237315	0.99110	.	.	ENSG00000162944	ENST00000295049	.	.	.	5.27	3.47	0.39725	.	0.646994	0.16509	N	0.211309	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.2623	8.563	0.33523	0.0:0.7618:0.0:0.2382	.	.	.	.	X	197	.	ENSP00000295049:W197X	W	-	3	0	RFTN2	198206814	0.177000	0.23109	0.072000	0.20136	0.928000	0.56348	0.890000	0.28295	0.715000	0.32103	0.655000	0.94253	TGG		0.408	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2		NM_144629		16	139	0	0	0	0.00499	0	16	139		
AOX1	316	broad.mit.edu	37	2	201468754	201468754	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:201468754C>T	ENST00000374700.2	+	8	844	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	201					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.L201L(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCCAAAACTCTTCGCAGAAG	0.383																																						uc002uvx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(601-603)CTC>CTT		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						71.0	70.0	71.0					2																	201468754		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201468754C>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.603C>T	2.37:g.201468754C>T							p.L201L	NM_001159	NP_001150	Q06278	ADO_HUMAN			8	704	+			201					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.603C>T	CCDS33360.1																																																																																				0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		NM_001159		4	50	0	0	0	0.000602	0	4	50		
CLK1	1195	broad.mit.edu	37	2	201721702	201721702	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:201721702T>A	ENST00000321356.4	-	8	974	c.839A>T	c.(838-840)cAc>cTc	p.H280L	CLK1_ENST00000409769.2_Missense_Mutation_p.H103L|CLK1_ENST00000434813.2_Missense_Mutation_p.H322L	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.H322L(1)|p.H280L(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTATTACTGTGCAAAACTGA	0.418																																						uc002uwe.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	pancreas(2)	2						c.(838-840)CAC>CTC		CDC-like kinase 1 isoform 1							73.0	74.0	74.0					2																	201721702		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201721702T>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.839A>T	2.37:g.201721702T>A	ENSP00000326830:p.His280Leu					CLK1_uc002uwd.2_Missense_Mutation_p.H103L|CLK1_uc010zhi.1_Missense_Mutation_p.H322L|CLK1_uc002uwf.2_Missense_Mutation_p.H54L|CLK1_uc002uwg.2_Missense_Mutation_p.H129L|CLK1_uc010fsv.2_RNA	p.H280L	NM_004071	NP_004062	P49759	CLK1_HUMAN			8	1020	-			280			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.839A>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.466560	0.84425	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	D;D;D	0.84442	-1.85;-1.85;-1.85	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95589	0.8566	H	0.99058	4.415	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;1.0;0.999	D	0.97291	0.9924	10	0.87932	D	0	.	14.372	0.66846	0.0:0.0:0.0:1.0	.	322;250;280;103	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	L	280;250;103;322	ENSP00000326830:H280L;ENSP00000386358:H103L;ENSP00000394734:H322L	ENSP00000326830:H280L	H	-	2	0	CLK1	201429947	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.925000	0.87563	2.101000	0.63845	0.402000	0.26972	CAC		0.418	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2				3	40	0	0	0	0.004672	0	3	40		
BMPR2	659	broad.mit.edu	37	2	203420557	203420557	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:203420557C>T	ENST00000374580.4	+	12	2708	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	723					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.F723F(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGCAGGACTTCACACAGACTG	0.473																																						uc002uzf.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(2167-2169)TTC>TTT		bone morphogenetic protein receptor type II							87.0	81.0	83.0					2																	203420557		2203	4300	6503	SO:0001819	synonymous_variant	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420557C>T	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2169C>T	2.37:g.203420557C>T						BMPR2_uc010ftr.2_Intron	p.F723F	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			12	3317	+			723			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	ENST00000374580.4	37	c.2169C>T	CCDS33361.1																																																																																				0.473	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1		NM_001204		9	68	0	0	0	0.004482	0	9	68		
PIKFYVE	200576	broad.mit.edu	37	2	209218754	209218754	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:209218754C>T	ENST00000264380.4	+	40	6135	c.5977C>T	c.(5977-5979)Cat>Tat	p.H1993Y		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1993	Catalytic.|PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.H1993Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATTCGTTCTCATTCCAAAGC	0.418																																						uc002vcz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(5977-5979)CAT>TAT		phosphatidylinositol-3-phosphate 5-kinase type							169.0	169.0	169.0					2																	209218754		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209218754C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5977C>T	2.37:g.209218754C>T	ENSP00000264380:p.His1993Tyr						p.H1993Y	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			40	6135	+			1993			Catalytic.|PIPK.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.5977C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898975	0.91962	.	.	ENSG00000115020	ENST00000264380	T	0.35973	1.28	6.17	6.17	0.99709	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	L	0.42744	1.35	0.80722	D	1	D	0.65815	0.995	D	0.77004	0.989	T	0.43327	-0.9398	10	0.44086	T	0.13	-17.6124	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1993	Q9Y2I7	FYV1_HUMAN	Y	1993	ENSP00000264380:H1993Y	ENSP00000264380:H1993Y	H	+	1	0	PIKFYVE	208926999	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.666000	0.83877	2.941000	0.99782	0.655000	0.94253	CAT		0.418	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040		24	107	0	0	0	0.005443	0	24	107		
ANKZF1	55139	broad.mit.edu	37	2	220094995	220094995	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:220094995G>A	ENST00000323348.5	+	2	190	c.16G>A	c.(16-18)Gat>Aat	p.D6N	ATG9A_ENST00000409618.1_5'Flank|ATG9A_ENST00000396761.2_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.D6N|ANKZF1_ENST00000409849.1_Intron|ATG9A_ENST00000409422.1_5'Flank|ATG9A_ENST00000361242.4_5'Flank|ATG9A_ENST00000488833.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	6						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.D6N(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGGCTCCAGATGCAGCCCC	0.602																																						uc002vkg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(16-18)GAT>AAT		ankyrin repeat and zinc finger domain containing							36.0	38.0	37.0					2																	220094995		1910	4120	6030	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220094995G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.16G>A	2.37:g.220094995G>A	ENSP00000321617:p.Asp6Asn					ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.D6N|ANKZF1_uc010zkw.1_Intron|ANKZF1_uc002vkh.2_Intron|ANKZF1_uc002vki.2_Missense_Mutation_p.D6N|ANKZF1_uc002vkj.1_5'Flank	p.D6N	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	190	+		Renal(207;0.0474)	6					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.16G>A	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402681	0.25291	.	.	ENSG00000163516	ENST00000323348;ENST00000416565;ENST00000410034;ENST00000447157;ENST00000436226	T;T	0.25749	1.78;1.78	5.27	3.47	0.39725	.	0.634136	0.15426	N	0.262963	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.002;0.023	B;B	0.12156	0.0;0.007	T	0.31668	-0.9935	10	0.19147	T	0.46	-0.3189	6.9966	0.24786	0.0918:0.1749:0.7333:0.0	.	6;6	B4DZT1;Q9H8Y5	.;ANKZ1_HUMAN	N	6	ENSP00000321617:D6N;ENSP00000386337:D6N	ENSP00000321617:D6N	D	+	1	0	ANKZF1	219803239	0.001000	0.12720	0.240000	0.24138	0.803000	0.45373	0.338000	0.19858	0.790000	0.33803	0.467000	0.42956	GAT		0.602	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1		NM_018089		5	24	0	0	0	0.000602	0	5	24		
COL4A4	1286	broad.mit.edu	37	2	227924258	227924258	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:227924258G>A	ENST00000396625.3	-	28	2453	c.2246C>T	c.(2245-2247)tCa>tTa	p.S749L	COL4A4_ENST00000329662.7_Missense_Mutation_p.S749L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	749	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.S749L(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACTCCTGGTGAGCCGGGAGG	0.552																																						uc010zlt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(2245-2247)TCA>TTA		alpha 4 type IV collagen precursor							66.0	72.0	70.0					2																	227924258		1831	4073	5904	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924258G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2246C>T	2.37:g.227924258G>A	ENSP00000379866:p.Ser749Leu						p.S749L	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2900	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	749			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2246C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463593	0.26248	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93426	-3.22;-3.22	5.89	0.884	0.19182	.	.	.	.	.	T	0.81851	0.4910	N	0.10645	0.015	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.67377	-0.5686	9	0.16896	T	0.51	.	6.1676	0.20398	0.2781:0.1222:0.5997:0.0	.	749	P53420	CO4A4_HUMAN	L	749	ENSP00000379866:S749L;ENSP00000328553:S749L	ENSP00000328553:S749L	S	-	2	0	COL4A4	227632502	0.001000	0.12720	0.004000	0.12327	0.944000	0.59088	0.075000	0.14686	0.091000	0.17302	0.655000	0.94253	TCA		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1		NM_000092		13	61	0	0	0	0.001368	0	13	61		
SP100	6672	broad.mit.edu	37	2	231407626	231407626	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:231407626C>G	ENST00000340126.4	+	29	2654	c.2623C>G	c.(2623-2625)Cag>Gag	p.Q875E	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.Q875E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTTTGCAATTCAGGAAACAAG	0.373																																						uc002vqu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5						c.(2623-2625)CAG>GAG		nuclear antigen Sp100 isoform 1							97.0	90.0	92.0					2																	231407626		1845	4092	5937	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231407626C>G	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2623C>G	2.37:g.231407626C>G	ENSP00000343023:p.Gln875Glu					SP100_uc010fxp.1_Missense_Mutation_p.Q193E	p.Q875E	NM_001080391	NP_001073860	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	29	2764	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	Error:Variant_position_missing_in_P23497_after_alignment					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2623C>G	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.58|11.58	1.681644|1.681644	0.29872|0.29872	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000340126;ENST00000414648|ENST00000431952	T|.	0.61040|.	0.14|.	3.59|3.59	2.68|2.68	0.31781|0.31781	.|.	.|.	.|.	.|.	.|.	T|.	0.41926|.	0.1180|.	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	P;P|.	0.43094|.	0.799;0.748|.	B;B|.	0.32980|.	0.12;0.156|.	T|.	0.14420|.	-1.0473|.	9|.	0.20046|.	T|.	0.44|.	.|.	8.7062|8.7062	0.34356|0.34356	0.0:0.7522:0.2478:0.0|0.0:0.7522:0.2478:0.0	.|.	345;875|.	E9PHN1;P23497-4|.	.;.|.	E|X	875;345|248	ENSP00000343023:Q875E|.	ENSP00000343023:Q875E|.	Q|S	+|+	1|2	0|0	SP100|SP100	231115870|231115870	0.002000|0.002000	0.14202|0.14202	0.923000|0.923000	0.36655|0.36655	0.972000|0.972000	0.66771|0.66771	-0.490000|-0.490000	0.06482|0.06482	1.062000|1.062000	0.40625|0.40625	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.373	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1		NM_003113		8	56	0	0	0	0.00308	0	8	56		
UGT1A5	54579	broad.mit.edu	37	2	234622344	234622344	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:234622344C>G	ENST00000373414.3	+	1	707	c.707C>G	c.(706-708)tCt>tGt	p.S236C	UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.S236C			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	236						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S236C(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		AGCCTTGCCTCTGAGCTTTTT	0.527																																						uc002vuw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(706-708)TCT>TGT		UDP glycosyltransferase 1 family, polypeptide A5							228.0	219.0	222.0					2																	234622344		2203	4300	6503	SO:0001583	missense	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234622344C>G	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.707C>G	2.37:g.234622344C>G	ENSP00000362513:p.Ser236Cys					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.S236C	p.S236C	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	707	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	236					B8K294	Missense_Mutation	SNP	ENST00000373414.3	37	c.707C>G	CCDS33404.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589988	0.46214	.	.	ENSG00000240224	ENST00000373414	T	0.66995	-0.24	4.88	4.88	0.63580	.	0.378221	0.29646	N	0.011561	D	0.87811	0.6271	H	0.96015	3.755	0.38150	D	0.93871	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.93009	0.6430	10	0.87932	D	0	.	18.0483	0.89340	0.0:1.0:0.0:0.0	.	236;236	Q5DSZ9;P35504	.;UD15_HUMAN	C	236	ENSP00000362513:S236C	ENSP00000362513:S236C	S	+	2	0	UGT1A5	234287083	0.041000	0.20044	0.806000	0.32338	0.287000	0.27160	2.174000	0.42482	2.271000	0.75665	0.561000	0.74099	TCT		0.527	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1		NM_019078		39	161	0	0	0	0.006999	0	39	161		
HJURP	55355	broad.mit.edu	37	2	234749538	234749538	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:234749538C>T	ENST00000411486.2	-	8	1953	c.1888G>A	c.(1888-1890)Gac>Aac	p.D630N	HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.D576N|HJURP_ENST00000441687.1_Missense_Mutation_p.D545N	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	630					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.D630N(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AAGTGAGGGTCTGGATTTAAT	0.448																																						uc002vvg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1888-1890)GAC>AAC		Holliday junction recognition protein							96.0	99.0	98.0					2																	234749538		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234749538C>T		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1888G>A	2.37:g.234749538C>T	ENSP00000414109:p.Asp630Asn					HJURP_uc010znd.1_Missense_Mutation_p.D569N|HJURP_uc010zne.1_Missense_Mutation_p.D538N	p.D630N	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	1954	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	630					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.1888G>A	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109088	0.56398	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.20332	2.78;2.79;2.79;2.08	3.97	3.1	0.35709	.	0.293745	0.24686	N	0.036439	T	0.36303	0.0962	L	0.61218	1.895	0.09310	N	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;P	0.64776	0.929;0.929;0.852	T	0.05784	-1.0864	10	0.87932	D	0	-7.5129	7.6545	0.28367	0.0:0.8858:0.0:0.1142	.	545;576;630	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	N	630;576;545;545	ENSP00000414109:D630N;ENSP00000407208:D576N;ENSP00000401944:D545N;ENSP00000393253:D545N	ENSP00000414109:D630N	D	-	1	0	HJURP	234414277	0.002000	0.14202	0.002000	0.10522	0.081000	0.17604	1.469000	0.35343	1.260000	0.44134	0.563000	0.77884	GAC		0.448	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6		NM_018410		16	61	0	0	0	0.004007	0	16	61		
PER2	8864	broad.mit.edu	37	2	239184478	239184478	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:239184478C>T	ENST00000254657.3	-	4	633	c.354G>A	c.(352-354)ctG>ctA	p.L118L	PER2_ENST00000440245.1_Silent_p.L118L|PER2_ENST00000254658.3_Silent_p.L118L|PER2_ENST00000355768.2_Silent_p.L118L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	118					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.L118L(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTGGACCTTCAGCTCCTTTA	0.517																																						uc002vyc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(352-354)CTG>CTA		period 2							249.0	230.0	236.0					2																	239184478		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239184478C>T	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.354G>A	2.37:g.239184478C>T						PER2_uc010znv.1_Silent_p.L118L|PER2_uc010znw.1_Silent_p.L118L|PER2_uc010fyx.1_Silent_p.L118L	p.L118L	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	4	591	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	118					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.354G>A	CCDS2528.1																																																																																				0.517	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1		NM_022817		12	65	0	0	0	0.001368	0	12	65		
ANKMY1	51281	broad.mit.edu	37	2	241468765	241468765	+	Silent	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:241468765G>T	ENST00000272972.3	-	4	589	c.375C>A	c.(373-375)atC>atA	p.I125I	ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000391987.1_Silent_p.I125I|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.I214I|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	125							metal ion binding (GO:0046872)	p.I125I(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGTGGGTGATGAAGCTGG	0.562																																						uc002vyz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(373-375)ATC>ATA		ankyrin repeat and MYND domain containing 1							57.0	60.0	59.0					2																	241468765		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241468765G>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.375C>A	2.37:g.241468765G>T						ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.I214I|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	p.I125I	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	604	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	125					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.375C>A	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	G	5.180	0.218818	0.09810	.	.	ENSG00000144504	ENST00000443318	.	.	.	4.91	-5.98	0.02220	.	.	.	.	.	T	0.30759	0.0775	.	.	.	0.20764	N	0.999853	.	.	.	.	.	.	T	0.38950	-0.9637	4	.	.	.	-18.0153	10.5007	0.44804	0.0884:0.6838:0.1254:0.1024	.	.	.	.	N	70	.	.	H	-	1	0	ANKMY1	241117438	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.151000	0.10175	-0.900000	0.03896	0.655000	0.94253	CAC		0.562	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2		NM_017844		4	28	1	0	5.9392e-07	0.001168	6.23752e-07	4	28		
MTERF4	130916	broad.mit.edu	37	2	242035439	242035439	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr2:242035439C>T	ENST00000391980.2	-	4	1178	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D186N	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		374					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)	p.D374N(1)		endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcgtcctcatcctcatcattg	0.488																																						uc002wan.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1207-1209)GAT>AAT		MTERF domain containing 2							347.0	253.0	285.0					2																	242035439		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242035439C>T																												ENST00000391980.2:c.1120G>A	2.37:g.242035439C>T	ENSP00000375840:p.Asp374Asn					MTERFD2_uc010zoj.1_Missense_Mutation_p.D186N	p.D403N	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	3	1700	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	374					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.1207G>A	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	6.814	0.519359	0.13005	.	.	ENSG00000122085	ENST00000391980;ENST00000406593	T;T	0.01963	4.53;4.53	1.35	0.249	0.15531	.	0.678240	0.13803	N	0.361677	T	0.00967	0.0032	N	0.08118	0	0.58432	D	0.999999	P	0.37233	0.588	B	0.17433	0.018	T	0.63924	-0.6527	10	0.87932	D	0	-7.1345	3.2884	0.06940	0.2948:0.4124:0.2928:0.0	.	374	Q7Z6M4	MTER2_HUMAN	N	374;186	ENSP00000375840:D374N;ENSP00000384998:D186N	ENSP00000241527:D374N	D	-	1	0	MTERFD2	241684112	0.001000	0.12720	0.007000	0.13788	0.006000	0.05464	-0.336000	0.07863	0.068000	0.16574	0.484000	0.47621	GAT		0.488	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4				16	68	0	0	0	0.003163	0	16	68		
CSNK2A1	1457	broad.mit.edu	37	20	469330	469330	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:469330G>C	ENST00000217244.3	-	11	1191	c.816C>G	c.(814-816)atC>atG	p.I272M	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.I272M|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.I272M|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.I136M	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	272	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.I272M(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			ACCTGCCCAAGATATCATTGA	0.358																																						uc002wdw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(814-816)ATC>ATG		casein kinase II alpha 1 subunit isoform a							138.0	121.0	127.0					20																	469330		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:469330G>C	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.816C>G	20.37:g.469330G>C	ENSP00000217244:p.Ile272Met					CSNK2A1_uc002wdx.1_Missense_Mutation_p.I272M|CSNK2A1_uc002wdy.1_Missense_Mutation_p.I136M	p.I272M	NM_177559	NP_808227	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		11	1209	-		Breast(17;0.231)	272			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.816C>G	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.297420	0.40694	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.44881	3.26;3.26;3.26;0.91	5.44	1.38	0.22167	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.090444	0.85682	D	0.000000	T	0.36054	0.0953	L	0.37800	1.135	0.58432	D	0.999993	B	0.28350	0.208	B	0.37650	0.255	T	0.17868	-1.0355	10	0.51188	T	0.08	-10.6933	10.1424	0.42742	0.3393:0.0:0.6607:0.0	.	272	P68400	CSK21_HUMAN	M	272;272;272;272;136	ENSP00000383086:I272M;ENSP00000339247:I272M;ENSP00000217244:I272M;ENSP00000383076:I136M	ENSP00000217244:I272M	I	-	3	3	CSNK2A1	417330	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	0.853000	0.27777	0.144000	0.18951	-0.119000	0.15052	ATC		0.358	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1		NM_001895		12	51	0	0	0	0.010729	0	12	51		
SLC4A11	83959	broad.mit.edu	37	20	3210005	3210005	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:3210005G>T	ENST00000380056.3	-	14	1931	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L	SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000380059.3_Missense_Mutation_p.F655L|SLC4A11_ENST00000539553.2_Missense_Mutation_p.F612L	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	628	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)	p.F655L(1)|p.F628L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGATTTCCCGGAAGCCATGGG	0.667																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1882-1884)TTC>TTA		solute carrier family 4 member 11							58.0	59.0	59.0					20																	3210005		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3210005G>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1884C>A	20.37:g.3210005G>T	ENSP00000369396:p.Phe628Leu					SLC4A11_uc010zqe.1_Missense_Mutation_p.F655L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.F612L	p.F628L	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			14	1932	-			628			Membrane (bicarbonate transporter).|Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.1884C>A	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.543941	0.86022	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.75938	-0.98;-0.98;-0.98	5.14	5.14	0.70334	Bicarbonate transporter, C-terminal (1);	0.055865	0.64402	N	0.000001	D	0.84370	0.5457	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77557	0.982;0.99;0.983	T	0.81289	-0.1000	10	0.22706	T	0.39	.	18.5979	0.91235	0.0:0.0:1.0:0.0	.	612;655;628	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	L	655;628;612	ENSP00000369399:F655L;ENSP00000369396:F628L;ENSP00000441370:F612L	ENSP00000369396:F628L	F	-	3	2	SLC4A11	3158005	1.000000	0.71417	0.890000	0.34922	0.582000	0.36321	6.701000	0.74624	2.378000	0.81104	0.462000	0.41574	TTC		0.667	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1				6	49	1	0	2.0095e-06	0.001984	2.10084e-06	6	49		
SLC23A2	9962	broad.mit.edu	37	20	4848512	4848512	+	Silent	SNP	G	G	A	rs72552221	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:4848512G>A	ENST00000379333.1	-	13	1652	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	SLC23A2_ENST00000468355.1_5'Flank|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000338244.1_Silent_p.F420F|SLC23A2_ENST00000424750.2_Silent_p.F306F	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	420				GIFVEGL -> YVPEKTS (in Ref. 11). {ECO:0000305}.	L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.F420F(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCTTCCACGAAAATTCCCC	0.403													G|||	15	0.00299521	0.0106	0.0	5008	,	,		15344	0.0		0.0	False		,,,				2504	0.001					uc002wlg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(1258-1260)TTC>TTT		solute carrier family 23 (nucleobase		G	,	42,4364	45.3+/-79.5	0,42,2161	86.0	80.0	82.0		1260,1260	1.3	1.0	20	dbSNP_130	82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC23A2	NM_005116.5,NM_203327.1	,	0,42,6461	AA,AG,GG		0.0,0.9532,0.3229	,	420/651,420/651	4848512	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4848512G>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1260C>T	20.37:g.4848512G>A						SLC23A2_uc010zqr.1_Silent_p.F305F|SLC23A2_uc002wlh.1_Silent_p.F420F	p.F420F	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			13	1635	-			420	GIFVEGL -> YVPEKTS (in Ref. 10).				B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.1260C>T	CCDS13085.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	6.518	0.463754	0.12402	0.009532	0.0	ENSG00000089057	ENST00000423430	.	.	.	5.5	1.28	0.21552	.	.	.	.	.	T	0.48978	0.1530	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44065	-0.9352	4	.	.	.	-22.0721	8.8578	0.35238	0.4551:0.0:0.5449:0.0	.	.	.	.	C	177	.	.	R	-	1	0	SLC23A2	4796512	0.916000	0.31088	0.999000	0.59377	0.773000	0.43773	0.072000	0.14617	0.086000	0.17137	-0.225000	0.12378	CGT		0.403	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1				7	21	0	0	0	0.00308	0	7	21		
LRRN4	164312	broad.mit.edu	37	20	6022478	6022478	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:6022478G>C	ENST00000378858.4	-	5	1637	c.1413C>G	c.(1411-1413)atC>atG	p.I471M		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	471					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.I471M(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGGCAGCTGAGATATCAGGCT	0.647																																						uc002wmo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)	3						c.(1411-1413)ATC>ATG		leucine rich repeat neuronal 4 precursor							130.0	131.0	130.0					20																	6022478		2203	4300	6503	SO:0001583	missense	164312					integral to membrane		g.chr20:6022478G>C	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1413C>G	20.37:g.6022478G>C	ENSP00000368135:p.Ile471Met						p.I471M	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN			5	1637	-			471			Extracellular (Potential).		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	ENST00000378858.4	37	c.1413C>G	CCDS13097.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.790075	0.31685	.	.	ENSG00000125872	ENST00000378858	T	0.59224	0.28	5.0	1.86	0.25419	.	1.930980	0.02112	N	0.054919	T	0.48205	0.1487	L	0.27053	0.805	0.09310	N	1	P	0.45283	0.855	B	0.41510	0.359	T	0.40194	-0.9576	10	0.45353	T	0.12	0.2342	7.5612	0.27853	0.42:0.0:0.58:0.0	.	471	Q8WUT4	LRRN4_HUMAN	M	471	ENSP00000368135:I471M	ENSP00000368135:I471M	I	-	3	3	LRRN4	5970478	0.026000	0.19158	0.008000	0.14137	0.040000	0.13550	0.479000	0.22228	0.128000	0.18479	0.561000	0.74099	ATC		0.647	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2		NM_152611		17	74	0	0	0	0.007413	0	17	74		
CRNKL1	51340	broad.mit.edu	37	20	20031155	20031155	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:20031155C>A	ENST00000377340.2	-	3	677	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000377306.1_5'Flank|CRNKL1_ENST00000377327.4_Missense_Mutation_p.D204Y|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000245957.5_5'Flank|CRNKL1_ENST00000536226.1_Missense_Mutation_p.D55Y	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	216					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D216Y(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCTTCTTCATCTGTGATCTTC	0.408																																						uc002wrs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(646-648)GAT>TAT		crooked neck-like 1 protein							149.0	140.0	143.0					20																	20031155		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20031155C>A	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.646G>T	20.37:g.20031155C>A	ENSP00000366557:p.Asp216Tyr					C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.D204Y	p.D216Y	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			3	678	-			216					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.646G>T	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243778	0.79912	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.29142	1.58;1.58;1.58	5.42	5.42	0.78866	.	0.132625	0.64402	D	0.000002	T	0.65228	0.2671	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.971	T	0.71915	-0.4448	10	0.87932	D	0	-31.5927	19.4096	0.94665	0.0:1.0:0.0:0.0	.	204;216	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	Y	204;216;55	ENSP00000366544:D204Y;ENSP00000366557:D216Y;ENSP00000440733:D55Y	ENSP00000366544:D204Y	D	-	1	0	CRNKL1	19979155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.877000	0.69675	2.817000	0.96982	0.563000	0.77884	GAT		0.408	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1				17	42	1	0	2.23348e-06	0.004007	2.33147e-06	17	42		
GZF1	64412	broad.mit.edu	37	20	23350821	23350821	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:23350821G>A	ENST00000338121.5	+	6	1956	c.1879G>A	c.(1879-1881)Gaa>Aaa	p.E627K	GZF1_ENST00000377051.2_Missense_Mutation_p.E627K|GZF1_ENST00000542987.1_Missense_Mutation_p.E136K|GZF1_ENST00000544236.1_Missense_Mutation_p.E151K			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	627					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.E627K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ACAGCCTGACGAAGAGTATGT	0.448																																						uc010gdb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(1)	1						c.(1879-1881)GAA>AAA		GDNF-inducible zinc finger protein 1							103.0	85.0	91.0					20																	23350821		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23350821G>A	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1879G>A	20.37:g.23350821G>A	ENSP00000338290:p.Glu627Lys					GZF1_uc002wsy.2_Missense_Mutation_p.E627K|GZF1_uc010zsq.1_Missense_Mutation_p.E151K|GZF1_uc010zsr.1_Missense_Mutation_p.E136K|GZF1_uc002wsz.2_Missense_Mutation_p.E627K	p.E627K	NM_022482	NP_071927	Q9H116	GZF1_HUMAN			7	2053	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		627					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.1879G>A	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338203	0.41398	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.10668	3.01;2.85;3.31;2.85	5.77	5.77	0.91146	.	0.208604	0.31145	N	0.008171	T	0.09024	0.0223	L	0.32530	0.975	0.35704	D	0.815816	P	0.52842	0.956	B	0.38296	0.27	T	0.26018	-1.0115	10	0.34782	T	0.22	.	14.5639	0.68162	0.0:0.1458:0.8542:0.0	.	627	Q9H116	GZF1_HUMAN	K	151;627;136;627	ENSP00000445458:E151K;ENSP00000338290:E627K;ENSP00000445118:E136K;ENSP00000366250:E627K	ENSP00000338290:E627K	E	+	1	0	GZF1	23298821	1.000000	0.71417	0.998000	0.56505	0.055000	0.15305	4.861000	0.62969	2.728000	0.93425	0.655000	0.94253	GAA		0.448	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1		NM_022482		9	29	0	0	0	0.006214	0	9	29		
HM13	81502	broad.mit.edu	37	20	30137129	30137129	+	Silent	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:30137129C>A	ENST00000340852.5	+	6	784	c.660C>A	c.(658-660)gtC>gtA	p.V220V	HM13_ENST00000398174.3_Silent_p.V220V|HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000335574.5_Silent_p.V220V	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	220					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)	p.V220V(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TCTACGATGTCTTCTGGGTGA	0.562																																						uc002wwe.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(1)	1						c.(658-660)GTC>GTA		minor histocompatibility antigen 13 isoform 1							131.0	129.0	130.0					20																	30137129		2203	4300	6503	SO:0001819	synonymous_variant	81502				membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	g.chr20:30137129C>A	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.660C>A	20.37:g.30137129C>A						HM13_uc002wwc.2_Silent_p.V220V|HM13_uc002wwd.2_Silent_p.V220V|HM13_uc002wwf.2_Silent_p.V96V|HM13_uc010gdu.2_Silent_p.V96V	p.V220V	NM_030789	NP_110416	Q8TCT9	HM13_HUMAN	all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)		6	774	+	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		220			Helical; (Potential).		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Silent	SNP	ENST00000340852.5	37	c.660C>A	CCDS13182.1																																																																																				0.562	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078527.2		NM_178580		23	167	1	0	1.66031e-10	0.003954	1.76248e-10	23	167		
ZNF341	84905	broad.mit.edu	37	20	32379155	32379155	+	Silent	SNP	G	G	A	rs548375525		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:32379155G>A	ENST00000375200.1	+	15	2762	c.2397G>A	c.(2395-2397)gcG>gcA	p.A799A	RP4-553F4.6_ENST00000443171.1_RNA|ZNF341_ENST00000342427.2_Silent_p.A792A|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	799					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A792A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGCCGGACGCGGTGCTGTCCA	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		14887	0.001		0.0	False		,,,				2504	0.0					uc002wzy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(2395-2397)GCG>GCA		zinc finger protein 341							35.0	37.0	36.0					20																	32379155		2201	4299	6500	SO:0001819	synonymous_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32379155G>A	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.2397G>A	20.37:g.32379155G>A						ZNF341_uc002wzx.2_Silent_p.A792A|ZNF341_uc010geq.2_Silent_p.A709A|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Silent_p.A226A	p.A799A	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			15	2417	+			799					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Silent	SNP	ENST00000375200.1	37	c.2397G>A																																																																																					0.701	ZNF341-201	KNOWN	basic	protein_coding	protein_coding					6	54	0	0	0	0.004482	0	6	54		
TP53INP2	58476	broad.mit.edu	37	20	33296631	33296631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:33296631G>C	ENST00000374810.3	+	3	477	c.88G>C	c.(88-90)Gat>Cat	p.D30H	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Missense_Mutation_p.D30H	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	30					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.D30H(1)		endometrium(1)|urinary_tract(1)	2						GTCGGAGGAGGATGAAGTGGA	0.652																																						uc002xau.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(88-90)GAT>CAT		tumor protein p53 inducible nuclear protein 2							41.0	41.0	41.0					20																	33296631		2202	4300	6502	SO:0001583	missense	58476					nucleus		g.chr20:33296631G>C	AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"""diabetes and obesity regulated"""		"""chromosome 20 open reading frame 110"""	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.88G>C	20.37:g.33296631G>C	ENSP00000363943:p.Asp30His						p.D30H	NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN			3	423	+			30					A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Missense_Mutation	SNP	ENST00000374810.3	37	c.88G>C	CCDS13240.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677006	0.68042	.	.	ENSG00000078804	ENST00000374810;ENST00000374809;ENST00000451665;ENST00000414082	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.05	5.05	0.67936	.	0.175744	0.39146	N	0.001446	T	0.42675	0.1213	L	0.38175	1.15	0.49915	D	0.999834	D	0.59767	0.986	P	0.57620	0.824	T	0.39440	-0.9614	10	0.87932	D	0	-8.8952	17.9783	0.89133	0.0:0.0:1.0:0.0	.	30	Q8IXH6	T53I2_HUMAN	H	30	ENSP00000363943:D30H;ENSP00000363942:D30H;ENSP00000395784:D30H;ENSP00000404410:D30H	ENSP00000363942:D30H	D	+	1	0	TP53INP2	32760292	1.000000	0.71417	0.998000	0.56505	0.614000	0.37383	5.697000	0.68295	2.342000	0.79632	0.561000	0.74099	GAT		0.652	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078807.2		NM_021202		4	37	0	0	0	0.009096	0	4	37		
TRPC4AP	26133	broad.mit.edu	37	20	33632447	33632447	+	Silent	SNP	G	G	A	rs202043337	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:33632447G>A	ENST00000252015.2	-	7	815	c.726C>T	c.(724-726)ctC>ctT	p.L242L	TRPC4AP_ENST00000451813.2_Silent_p.L242L|TRPC4AP_ENST00000432634.2_Silent_p.L203L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	242	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.L242L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAAATTAGCGAGCTGCTGCT	0.438													G|||	2	0.000399361	0.0	0.0	5008	,	,		17874	0.002		0.0	False		,,,				2504	0.0					uc002xbk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(724-726)CTC>CTT		TRPC4-associated protein isoform a		G	,	1,4405	2.1+/-5.4	0,1,2202	117.0	113.0	114.0		726,726	1.8	1.0	20		114	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TRPC4AP	NM_015638.2,NM_199368.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	242/798,242/790	33632447	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33632447G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.726C>T	20.37:g.33632447G>A						TRPC4AP_uc002xbl.2_Silent_p.L242L|TRPC4AP_uc010zur.1_Silent_p.L203L|TRPC4AP_uc002xbm.1_Silent_p.L242L	p.L242L	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		7	760	-			242			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.726C>T	CCDS13246.1																																																																																				0.438	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2		NM_015638		25	129	0	0	0	0.003954	0	25	129		
PHF20	51230	broad.mit.edu	37	20	34435272	34435272	+	Splice_Site	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:34435272G>A	ENST00000374012.3	+	4	385	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Splice_Site_p.E86K			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	86	Tudor 2.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E86K(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGTTTTTTAGGAATTTCAAAT	0.373																																						uc002xek.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(256-258)GAA>AAA		PHD finger protein 20							70.0	68.0	68.0					20																	34435272		2203	4300	6503	SO:0001630	splice_region_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34435272G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.256-1G>A	20.37:g.34435272G>A						PHF20_uc002xei.1_Missense_Mutation_p.E86K|PHF20_uc010gfo.1_Missense_Mutation_p.E86K|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR	p.E86K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			4	367	+	Breast(12;0.00631)|all_lung(11;0.0145)		86					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.256G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990179	0.74589	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.35	5.35	0.76521	Tudor domain (1);	0.209122	0.44285	D	0.000461	T	0.41166	0.1147	L	0.38838	1.175	0.53005	D	0.999969	B	0.27559	0.181	B	0.26310	0.068	T	0.17961	-1.0352	9	.	.	.	.	19.0563	0.93067	0.0:0.0:1.0:0.0	.	86	Q9BVI0	PHF20_HUMAN	K	86	ENSP00000363124:E86K;ENSP00000410373:E86K;ENSP00000341900:E86K;ENSP00000363112:E86K	.	E	+	1	0	PHF20	33898686	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.400000	0.97290	2.492000	0.84095	0.467000	0.42956	GAA		0.373	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436	Missense_Mutation	18	41	0	0	0	0.010504	0	18	41		
EPB41L1	2036	broad.mit.edu	37	20	34797578	34797578	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:34797578A>G	ENST00000338074.2	+	15	1998	c.1837A>G	c.(1837-1839)Acg>Gcg	p.T613A	EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000441639.1_Missense_Mutation_p.T539A|EPB41L1_ENST00000373950.2_Missense_Mutation_p.T504A|EPB41L1_ENST00000373941.1_Missense_Mutation_p.T613A|EPB41L1_ENST00000202028.5_Missense_Mutation_p.T539A	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	613					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.T613A(1)|p.T902A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GGTCAGCTCTACGTCTAGCCT	0.607																																						uc002xfb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|pancreas(1)	3						c.(1837-1839)ACG>GCG		erythrocyte membrane protein band 4.1-like 1							107.0	84.0	92.0					20																	34797578		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34797578A>G	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1837A>G	20.37:g.34797578A>G	ENSP00000337168:p.Thr613Ala					EPB41L1_uc002xeu.2_Missense_Mutation_p.T539A|EPB41L1_uc010zvo.1_Missense_Mutation_p.T613A|EPB41L1_uc002xev.2_Missense_Mutation_p.T613A|EPB41L1_uc002xew.2_Missense_Mutation_p.T504A|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.T539A|EPB41L1_uc010gfq.2_Missense_Mutation_p.T712A	p.T613A	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN			15	2008	+	Breast(12;0.0239)		613					O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.1837A>G	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239511	0.58995	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D	0.86366	-2.11;-2.02;-2.11;-2.05;-2.05	5.87	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.88190	0.6370	L	0.36672	1.1	0.47698	D	0.999497	D;B;D;D;B;B	0.71674	0.996;0.125;0.997;0.998;0.02;0.035	P;B;D;D;B;B	0.80764	0.708;0.093;0.985;0.994;0.007;0.015	D	0.84097	0.0393	10	0.15066	T	0.55	-1.6958	11.2734	0.49153	0.929:0.0:0.0709:0.0	.	613;902;613;504;504;539	B7Z653;E9PCJ3;Q9H4G0;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;.;E41L1_HUMAN;.;.;.	A	539;504;613;504;539;902;613;613	ENSP00000202028:T539A;ENSP00000363061:T504A;ENSP00000399214:T539A;ENSP00000337168:T613A;ENSP00000363052:T613A	ENSP00000202028:T539A	T	+	1	0	EPB41L1	34260992	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.862000	0.75484	1.160000	0.42584	0.533000	0.62120	ACG		0.607	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3		NM_012156		20	24	0	0	0	0.010504	0	20	24		
LBP	3929	broad.mit.edu	37	20	36982714	36982714	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:36982714C>G	ENST00000217407.2	+	4	560	c.399C>G	c.(397-399)gtC>gtG	p.V133V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	133					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)	p.V133V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATGTCAGTGTCAAGGGCATCA	0.557																																						uc002xic.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(397-399)GTC>GTG		lipopolysaccharide-binding protein precursor							111.0	96.0	101.0					20																	36982714		2203	4300	6503	SO:0001819	synonymous_variant	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36982714C>G		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.399C>G	20.37:g.36982714C>G							p.V133V	NM_004139	NP_004130	P18428	LBP_HUMAN			4	434	+		Myeloproliferative disorder(115;0.00878)	133					B2R938|O43438|Q92672|Q9H403|Q9UD66	Silent	SNP	ENST00000217407.2	37	c.399C>G	CCDS13304.1																																																																																				0.557	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2		NM_004139		15	121	0	0	0	0.003163	0	15	121		
SLC32A1	140679	broad.mit.edu	37	20	37357141	37357141	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:37357141C>G	ENST00000217420.1	+	2	1700	c.1437C>G	c.(1435-1437)cgC>cgG	p.R479R		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	479					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.R479R(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TTCACCTGCGCCTGCTCTGGC	0.642																																						uc002xjc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1435-1437)CGC>CGG		solute carrier family 32, member 1	Glycine(DB00145)						28.0	30.0	30.0					20																	37357141		2201	4300	6501	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357141C>G	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1437C>G	20.37:g.37357141C>G							p.R479R	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1700	+		Myeloproliferative disorder(115;0.00878)	479			Helical; (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.1437C>G	CCDS13307.1																																																																																				0.642	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1		NM_080552		4	52	0	0	0	0.009096	0	4	52		
L3MBTL1	26013	broad.mit.edu	37	20	42164893	42164893	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:42164893C>T	ENST00000427442.2	+	18	2175	c.2016C>T	c.(2014-2016)ctC>ctT	p.L672L	L3MBTL1_ENST00000444063.1_Silent_p.L604L|L3MBTL1_ENST00000418998.1_Silent_p.L672L|L3MBTL1_ENST00000373135.3_Silent_p.L604L|L3MBTL1_ENST00000373134.1_Silent_p.L609L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	604					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L672L(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGAAGAACCTCTCAGGCTTCT	0.642																																						uc010zwh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(2014-2016)CTC>CTT		l(3)mbt-like isoform I							13.0	14.0	14.0					20																	42164893		2201	4299	6500	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42164893C>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2016C>T	20.37:g.42164893C>T						L3MBTL_uc002xkl.2_Silent_p.L604L|L3MBTL_uc002xkm.2_Silent_p.L604L|L3MBTL_uc010ggl.2_Silent_p.L609L|L3MBTL_uc002xkn.1_Silent_p.L363L|L3MBTL_uc002xko.2_Silent_p.L256L	p.L672L	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		18	2062	+		Myeloproliferative disorder(115;0.00452)	604					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.2016C>T	CCDS46602.2																																																																																				0.642	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3		NM_032107		4	15	0	0	0	0.009096	0	4	15		
HNF4A	3172	broad.mit.edu	37	20	43043252	43043252	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:43043252G>A	ENST00000316099.4	+	5	687	c.598G>A	c.(598-600)Gag>Aag	p.E200K	HNF4A_ENST00000415691.2_Missense_Mutation_p.E200K|HNF4A_ENST00000609795.1_Missense_Mutation_p.E178K|HNF4A_ENST00000457232.1_Missense_Mutation_p.E178K|HNF4A_ENST00000316673.4_Missense_Mutation_p.E178K|HNF4A_ENST00000443598.2_Missense_Mutation_p.E200K	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	200					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E200K(2)|p.E178K(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTTCTCGTTGAGTGGGCCAA	0.622																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)|lung(1)|skin(1)	3						c.(598-600)GAG>AAG		hepatocyte nuclear factor 4 alpha isoform b							109.0	82.0	91.0					20																	43043252		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43043252G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.598G>A	20.37:g.43043252G>A	ENSP00000312987:p.Glu200Lys					HNF4A_uc002xlt.2_Missense_Mutation_p.E178K|HNF4A_uc002xlu.2_Missense_Mutation_p.E178K|HNF4A_uc002xlv.2_Missense_Mutation_p.E178K|HNF4A_uc002xly.2_Missense_Mutation_p.E200K|HNF4A_uc002xlz.2_Missense_Mutation_p.E200K|HNF4A_uc010ggq.2_Missense_Mutation_p.E193K	p.E200K	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		5	687	+		Myeloproliferative disorder(115;0.0122)	200					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.598G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704468	0.96812	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97433	0.9160	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.984;0.984;0.997;0.999;0.999;0.993	D;D;D;D;D;D;D	0.72625	0.978;0.92;0.92;0.912;0.97;0.95;0.921	D	0.97739	1.0207	10	0.87932	D	0	.	19.9577	0.97228	0.0:0.0:1.0:0.0	.	193;200;200;200;178;178;178	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	K	178;178;200;200;230;200	ENSP00000315180:E178K;ENSP00000396216:E178K;ENSP00000312987:E200K;ENSP00000410911:E200K;ENSP00000412111:E200K	ENSP00000312987:E200K	E	+	1	0	HNF4A	42476666	1.000000	0.71417	0.862000	0.33874	0.908000	0.53690	9.869000	0.99810	2.714000	0.92807	0.563000	0.77884	GAG		0.622	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3				8	23	0	0	0	0.004482	0	8	23		
SULF2	55959	broad.mit.edu	37	20	46307544	46307544	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:46307544G>A	ENST00000359930.4	-	8	1920	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	SULF2_ENST00000484875.1_Missense_Mutation_p.P357S|SULF2_ENST00000361612.4_Missense_Mutation_p.P357S|SULF2_ENST00000467815.1_Missense_Mutation_p.P357S|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	357					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.P357S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACGATGTGGGGATTCCTGGGG	0.617																																						uc002xto.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1069-1071)CCC>TCC		sulfatase 2 isoform a precursor							80.0	75.0	77.0					20																	46307544		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46307544G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1069C>T	20.37:g.46307544G>A	ENSP00000353007:p.Pro357Ser					SULF2_uc002xtr.2_Missense_Mutation_p.P357S|SULF2_uc002xtq.2_Missense_Mutation_p.P357S	p.P357S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			8	1399	-			357					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1069C>T	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	g	17.44	3.389749	0.61956	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	N	0.21508	0.67	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.969;0.999	D	0.94750	0.7926	10	0.28530	T	0.3	-23.2039	18.8803	0.92353	0.0:0.0:1.0:0.0	.	357;357	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	S	357	ENSP00000353007:P357S;ENSP00000418290:P357S;ENSP00000354662:P357S;ENSP00000418442:P357S	ENSP00000353007:P357S	P	-	1	0	SULF2	45740951	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	7.869000	0.87170	2.464000	0.83262	0.457000	0.33378	CCC		0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1		NM_018837		12	96	0	0	0	0.003163	0	12	96		
ZNF831	128611	broad.mit.edu	37	20	57769685	57769685	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:57769685C>T	ENST00000371030.2	+	1	3611	c.3611C>T	c.(3610-3612)tCt>tTt	p.S1204F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1204							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.S1204F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AAGGCGGCATCTGTGTACTTG	0.622																																						uc002yan.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(13)|ovary(1)	14						c.(3610-3612)TCT>TTT		zinc finger protein 831							34.0	39.0	37.0					20																	57769685		2099	4228	6327	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769685C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3611C>T	20.37:g.57769685C>T	ENSP00000360069:p.Ser1204Phe						p.S1204F	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3611	+	all_lung(29;0.0085)		1204					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3611C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642048	0.67244	.	.	ENSG00000124203	ENST00000371030	T	0.12361	2.69	5.05	5.05	0.67936	.	0.104105	0.43579	D	0.000558	T	0.27098	0.0664	L	0.34521	1.04	0.20403	N	0.9999	D	0.89917	1.0	D	0.73380	0.98	T	0.03784	-1.1004	10	0.87932	D	0	-13.2327	15.5601	0.76237	0.0:1.0:0.0:0.0	.	1204	Q5JPB2	ZN831_HUMAN	F	1204	ENSP00000360069:S1204F	ENSP00000360069:S1204F	S	+	2	0	ZNF831	57203080	0.816000	0.29132	0.013000	0.15412	0.002000	0.02628	4.154000	0.58125	2.352000	0.79861	0.609000	0.83330	TCT		0.622	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2		NM_178457		13	39	0	0	0	0.001368	0	13	39		
CDH26	60437	broad.mit.edu	37	20	58558027	58558027	+	Missense_Mutation	SNP	C	C	G	rs149485584		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr20:58558027C>G	ENST00000244047.5	+	5	754	c.443C>G	c.(442-444)tCc>tGc	p.S148C	CDH26_ENST00000348616.4_Missense_Mutation_p.S148C			Q8IXH8	CAD26_HUMAN	cadherin 26	148	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S148C(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTGGATACATCCTTGATTTTC	0.403																																						uc002ybe.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|central_nervous_system(1)	4						c.(442-444)TCC>TGC		cadherin-like 26 isoform a		C	CYS/SER	1,4405	2.1+/-5.4	0,1,2202	170.0	170.0	170.0		443	5.0	0.0	20	dbSNP_134	170	0,8600		0,0,4300	no	missense	CDH26	NM_177980.2	112	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	148/833	58558027	1,13005	2203	4300	6503	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58558027C>G	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.443C>G	20.37:g.58558027C>G	ENSP00000244047:p.Ser148Cys					CDH26_uc010zzy.1_RNA	p.S148C	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		5	743	+	all_lung(29;0.00963)		148			Extracellular (Potential).|Cadherin 1.		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.443C>G		.	.	.	.	.	.	.	.	.	.	C	15.98	2.991957	0.54041	2.27E-4	0.0	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.60920	0.15;0.24	5.0	5.0	0.66597	.	0.269399	0.38326	N	0.001722	T	0.64605	0.2613	M	0.78049	2.395	0.09310	N	0.999991	P	0.41710	0.76	B	0.43658	0.426	T	0.65170	-0.6233	10	0.87932	D	0	.	15.2417	0.73476	0.0:1.0:0.0:0.0	.	148	Q8IXH8-4	.	C	148	ENSP00000244047:S148C;ENSP00000339390:S148C	ENSP00000244047:S148C	S	+	2	0	CDH26	57991422	0.977000	0.34250	0.022000	0.16811	0.744000	0.42396	4.648000	0.61425	2.306000	0.77630	0.655000	0.94253	TCC		0.403	CDH26-201	KNOWN	basic	protein_coding	protein_coding			NM_177980		27	156	0	0	0	0.00632	0	27	156		
USP25	29761	broad.mit.edu	37	21	17236685	17236685	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:17236685C>G	ENST00000285679.6	+	19	2805	c.2436C>G	c.(2434-2436)atC>atG	p.I812M	USP25_ENST00000285681.2_Missense_Mutation_p.I844M|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.I882M	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	812					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.I812M(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TCTACTTTATCCAGAACCAGG	0.348																																						uc002yjy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|liver(2)	5						c.(2434-2436)ATC>ATG		ubiquitin specific peptidase 25							77.0	74.0	75.0					21																	17236685		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17236685C>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2436C>G	21.37:g.17236685C>G	ENSP00000285679:p.Ile812Met					USP25_uc011aby.1_Missense_Mutation_p.I882M|USP25_uc002yjz.1_Missense_Mutation_p.I844M|USP25_uc010gla.1_Intron	p.I812M	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	19	2653	+			812					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.2436C>G	CCDS33515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.96|16.96	3.267123|3.267123	0.59540|0.59540	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000400183|ENST00000449491	T;T;T|.	0.26373|.	1.75;1.8;1.74|.	5.62|5.62	3.81|3.81	0.43845|0.43845	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62853|0.62853	0.2462|0.2462	M|M	0.63428|0.63428	1.95|1.95	0.48901|0.48901	D|D	0.999722|0.999722	D;D;D|.	0.71674|.	0.989;0.995;0.998|.	D;D;D|.	0.78314|.	0.923;0.947;0.991|.	T|T	0.59773|0.59773	-0.7391|-0.7391	10|5	0.30078|.	T|.	0.28|.	.|.	10.396|10.396	0.44201|0.44201	0.0:0.7896:0.0:0.2104|0.0:0.7896:0.0:0.2104	.|.	882;844;812|.	Q9UHP3-3;Q9UHP3-1;Q9UHP3|.	.;.;UBP25_HUMAN|.	M|C	844;812;882|111	ENSP00000285681:I844M;ENSP00000285679:I812M;ENSP00000383044:I882M|.	ENSP00000285679:I812M|.	I|S	+|+	3|2	3|0	USP25|USP25	16158556|16158556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.856000|0.856000	0.27818|0.27818	0.836000|0.836000	0.34901|0.34901	0.655000|0.655000	0.94253|0.94253	ATC|TCC		0.348	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1				23	30	0	0	0	0.00333	0	23	30		
GRIK1	2897	broad.mit.edu	37	21	31023467	31023467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:31023467C>T	ENST00000399907.1	-	6	1336	c.925G>A	c.(925-927)Gag>Aag	p.E309K	GRIK1_ENST00000309434.7_Missense_Mutation_p.E309K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E309K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E309K|GRIK1_ENST00000399914.1_Missense_Mutation_p.E309K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E309K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E309K|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389125.3_Missense_Mutation_p.E309K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E309K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	309					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E309K(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AGGCCAGTCTCGGGCCTGGGT	0.463																																						uc002yno.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(925-927)GAG>AAG		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						64.0	61.0	62.0					21																	31023467		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023467C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.925G>A	21.37:g.31023467C>T	ENSP00000382791:p.Glu309Lys					GRIK1_uc002ynn.2_Missense_Mutation_p.E309K|GRIK1_uc011acs.1_Missense_Mutation_p.E309K|GRIK1_uc011act.1_Missense_Mutation_p.E253K|GRIK1_uc010glq.1_Missense_Mutation_p.E167K|GRIK1_uc002ynr.2_Missense_Mutation_p.E309K	p.E309K	NM_000830	NP_000821	P39086	GRIK1_HUMAN			6	1389	-			309			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.925G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913377	0.92178	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	4.91	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	L	0.33753	1.03	0.80722	D	1	P;P;B;P;P;P	0.46859	0.54;0.7;0.004;0.7;0.885;0.524	B;B;B;B;P;B	0.46320	0.188;0.244;0.003;0.244;0.512;0.04	T	0.01356	-1.1376	10	0.17832	T	0.49	.	18.233	0.89939	0.0:1.0:0.0:0.0	.	309;309;309;309;309;309	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	K	309;309;309;309;309;253;309;309;309;309	ENSP00000327687:E309K;ENSP00000373777:E309K;ENSP00000382797:E309K;ENSP00000382798:E309K;ENSP00000446326:E309K;ENSP00000373776:E309K;ENSP00000382791:E309K;ENSP00000382793:E309K;ENSP00000311646:E309K	ENSP00000311646:E309K	E	-	1	0	GRIK1	29945338	1.000000	0.71417	0.977000	0.42913	0.969000	0.65631	5.563000	0.67352	2.693000	0.91896	0.655000	0.94253	GAG		0.463	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1				5	52	0	0	0	0.000602	0	5	52		
KRTAP24-1	643803	broad.mit.edu	37	21	31655209	31655209	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:31655209G>A	ENST00000340345.4	-	1	67	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	14						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V14V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGGTACTGCAGACACCAGGAT	0.493																																						uc002ynv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(40-42)GTC>GTT		keratin associated protein 24-1							43.0	44.0	44.0					21																	31655209		2018	4189	6207	SO:0001819	synonymous_variant	643803					keratin filament	structural molecule activity	g.chr21:31655209G>A	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.42C>T	21.37:g.31655209G>A							p.V14V	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			1	68	-			14					Q1XDX0	Silent	SNP	ENST00000340345.4	37	c.42C>T	CCDS42915.1																																																																																				0.493	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2		NM_001085455		10	28	0	0	0	0.001368	0	10	28		
KRTAP19-4	337971	broad.mit.edu	37	21	31869328	31869328	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:31869328C>T	ENST00000334058.2	-	1	123	c.101G>A	c.(100-102)aGa>aAa	p.R34K		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	34						intermediate filament (GO:0005882)		p.R34K(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATAACCCAGTCTGCGGAAGCT	0.527																																						uc011acz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(100-102)AGA>AAA		keratin associated protein 19-4							124.0	129.0	127.0					21																	31869328		2203	4300	6503	SO:0001583	missense	337971					intermediate filament		g.chr21:31869328C>T	AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"""Keratin associated proteins"""	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.101G>A	21.37:g.31869328C>T	ENSP00000335567:p.Arg34Lys						p.R34K	NM_181610	NP_853641	Q3LI73	KR194_HUMAN			1	101	-			34					Q17RT4|Q17RT6	Missense_Mutation	SNP	ENST00000334058.2	37	c.101G>A	CCDS33534.1	.	.	.	.	.	.	.	.	.	.	C	6.887	0.533187	0.13188	.	.	ENSG00000186967	ENST00000334058	T	0.10382	2.88	4.0	2.19	0.27852	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.15870	0.014	T	0.29181	-1.0020	8	0.87932	D	0	.	6.3601	0.21422	0.0:0.7745:0.0:0.2255	.	34	Q3LI73	KR194_HUMAN	K	34	ENSP00000335567:R34K	ENSP00000335567:R34K	R	-	2	0	KRTAP19-4	30791199	0.002000	0.14202	0.013000	0.15412	0.456000	0.32438	0.044000	0.13992	0.650000	0.30769	-0.224000	0.12420	AGA		0.527	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128219.2				26	119	0	0	0	0.00632	0	26	119		
TIAM1	7074	broad.mit.edu	37	21	32519265	32519265	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:32519265G>C	ENST00000286827.3	-	21	3894	c.3423C>G	c.(3421-3423)ctC>ctG	p.L1141L	TIAM1_ENST00000541036.1_Silent_p.L1081L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1141	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1141L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGGCACTGTAGAGCTTGAAGC	0.517																																						uc002yow.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(3421-3423)CTC>CTG		T-cell lymphoma invasion and metastasis 1							130.0	102.0	111.0					21																	32519265		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32519265G>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3423C>G	21.37:g.32519265G>C						TIAM1_uc011adk.1_Silent_p.L1141L|TIAM1_uc011adl.1_Silent_p.L1081L	p.L1141L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			21	3895	-			1141			DH.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.3423C>G	CCDS13609.1																																																																																				0.517	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		7	28	0	0	0	0.004482	0	7	28		
SYNJ1	8867	broad.mit.edu	37	21	34038745	34038745	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:34038745G>C	ENST00000322229.7	-	15	1949	c.1950C>G	c.(1948-1950)atC>atG	p.I650M	SYNJ1_ENST00000382499.2_Missense_Mutation_p.I689M|SYNJ1_ENST00000433931.2_Missense_Mutation_p.I689M|SYNJ1_ENST00000357345.3_Missense_Mutation_p.I650M|SYNJ1_ENST00000382491.3_Missense_Mutation_p.I645M			O43426	SYNJ1_HUMAN	synaptojanin 1	650	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.I650M(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTACTGACCTGATAAAAGGAG	0.388																																						uc002yqh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(2065-2067)ATC>ATG		synaptojanin 1 isoform a							210.0	225.0	220.0					21																	34038745		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34038745G>C	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1950C>G	21.37:g.34038745G>C	ENSP00000322234:p.Ile650Met					SYNJ1_uc011ads.1_Missense_Mutation_p.I645M|SYNJ1_uc002yqf.2_Missense_Mutation_p.I650M|SYNJ1_uc002yqg.2_Missense_Mutation_p.I645M|SYNJ1_uc002yqi.2_Missense_Mutation_p.I689M	p.I689M	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			16	2067	-			650			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2067C>G	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420033	0.83559	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	5.72	5.72	0.89469	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97838	0.9290	M	0.87617	2.895	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;0.999;1.0;0.999	D;D;D;D;D	0.83275	0.989;0.994;0.982;0.996;0.981	D	0.98312	1.0524	10	0.87932	D	0	.	14.6882	0.69065	0.0:0.0:0.8549:0.1451	.	645;689;650;650;650	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	M	645;650;689;689;650;645	ENSP00000371931:I645M;ENSP00000349903:I650M;ENSP00000371939:I689M;ENSP00000409667:I689M;ENSP00000322234:I650M;ENSP00000413649:I645M	ENSP00000322234:I650M	I	-	3	3	SYNJ1	32960616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.632000	0.74281	2.709000	0.92574	0.561000	0.74099	ATC		0.388	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding					35	208	0	0	0	0.003755	0	35	208		
DOPEY2	9980	broad.mit.edu	37	21	37595610	37595610	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:37595610C>G	ENST00000399151.3	+	11	1417	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	444					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.L444L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CAGACTTTCTCTGGGATTATA	0.368																																						uc002yvg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1330-1332)CTC>CTG		pad-1-like							128.0	123.0	125.0					21																	37595610		2203	4300	6503	SO:0001819	synonymous_variant	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37595610C>G	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1332C>G	21.37:g.37595610C>G						DOPEY2_uc011aeb.1_Silent_p.L444L	p.L444L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			11	1411	+			444					D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	ENST00000399151.3	37	c.1332C>G	CCDS13643.1																																																																																				0.368	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		17	91	0	0	0	0.007413	0	17	91		
LRRC3	81543	broad.mit.edu	37	21	45876864	45876864	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:45876864G>A	ENST00000291592.4	+	2	654	c.337G>A	c.(337-339)Ggg>Agg	p.G113R	LRRC3DN_ENST00000596691.1_5'Flank|LRRC3-AS1_ENST00000426578.1_RNA	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	113						integral component of membrane (GO:0016021)		p.G113R(1)		endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGGCCTGGCCGGGGGCCTGCG	0.677																																						uc002zfa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(337-339)GGG>AGG		leucine-rich repeat-containing 3 precursor							25.0	29.0	28.0					21																	45876864		2184	4253	6437	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876864G>A	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.337G>A	21.37:g.45876864G>A	ENSP00000291592:p.Gly113Arg						p.G113R	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	630	+		Breast(209;0.00908)	113					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.337G>A	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688525	0.29962	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	D	0.89617	-2.54	4.73	2.87	0.33458	.	0.125040	0.53938	D	0.000053	T	0.79845	0.4516	N	0.19112	0.55	0.23386	N	0.997781	B	0.22346	0.068	B	0.22386	0.039	T	0.68938	-0.5277	10	0.37606	T	0.19	-44.4049	11.3974	0.49849	0.1601:0.0:0.8399:0.0	.	113	Q9BY71	LRRC3_HUMAN	R	113	ENSP00000291592:G113R	ENSP00000291592:G113R	G	+	1	0	LRRC3	44701292	1.000000	0.71417	0.911000	0.35937	0.308000	0.27856	7.050000	0.76620	1.132000	0.42129	0.491000	0.48974	GGG		0.677	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3				7	38	0	0	0	0.00308	0	7	38		
PCBP3	54039	broad.mit.edu	37	21	47359997	47359997	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr21:47359997G>A	ENST00000400314.1	+	15	1301	c.963G>A	c.(961-963)caG>caA	p.Q321Q	PCBP3_ENST00000400310.1_Silent_p.Q301Q|PCBP3_ENST00000400308.1_Silent_p.Q295Q|PCBP3_ENST00000400309.1_Silent_p.Q320Q|PCBP3_ENST00000449640.1_Silent_p.Q321Q|PCBP3_ENST00000400304.1_Silent_p.Q311Q			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	321	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q289Q(1)|p.Q321Q(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAATTCGACAGATGTCTGGAG	0.532																																						uc002zhq.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)	1						c.(961-963)CAG>CAA		poly(rC) binding protein 3 isoform 1							75.0	80.0	78.0					21																	47359997		2072	4227	6299	SO:0001819	synonymous_variant	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47359997G>A	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.963G>A	21.37:g.47359997G>A						PCBP3_uc002zhp.1_Silent_p.Q301Q|PCBP3_uc002zhs.1_Silent_p.Q295Q|PCBP3_uc002zhr.1_Silent_p.Q320Q|PCBP3_uc002zht.1_Silent_p.Q311Q	p.Q321Q	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1088	+	all_hematologic(128;0.24)		321			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	ENST00000400314.1	37	c.963G>A	CCDS42974.2																																																																																				0.532	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2				10	47	0	0	0	0.008291	0	10	47		
CABIN1	23523	broad.mit.edu	37	22	24468354	24468354	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:24468354C>T	ENST00000398319.2	+	18	2911	c.2526C>T	c.(2524-2526)gtC>gtT	p.V842V	CABIN1_ENST00000263119.5_Silent_p.V842V|CABIN1_ENST00000405822.2_Silent_p.V792V	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	842					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.V842V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCCCCACGTCTCTTCAGTGC	0.582																																						uc002zzi.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(2524-2526)GTC>GTT		calcineurin binding protein 1							133.0	93.0	107.0					22																	24468354		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24468354C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2526C>T	22.37:g.24468354C>T						CABIN1_uc002zzj.1_Silent_p.V792V|CABIN1_uc002zzl.1_Silent_p.V842V	p.V842V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			18	2653	+			842					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2526C>T	CCDS13823.1																																																																																				0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295		7	34	0	0	0	0.00308	0	7	34		
RFPL1	5988	broad.mit.edu	37	22	29835056	29835056	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:29835056C>T	ENST00000354373.2	+	1	485	c.276C>T	c.(274-276)ccC>ccT	p.P92P	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	92							zinc ion binding (GO:0008270)	p.P92P(1)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AAATCAGGCCCAGTTGGCAGC	0.512																																						uc003afn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(274-276)CCC>CCT		ret finger protein-like 1							128.0	120.0	123.0					22																	29835056		2203	4300	6503	SO:0001819	synonymous_variant	5988						zinc ion binding	g.chr22:29835056C>T	AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.276C>T	22.37:g.29835056C>T						RFPL1S_uc003afm.1_RNA	p.P92P	NM_021026	NP_066306	O75677	RFPL1_HUMAN			1	485	+			92					Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	c.276C>T	CCDS13857.2																																																																																				0.512	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1		NM_021026		13	61	0	0	0	0.001855	0	13	61		
THOC5	8563	broad.mit.edu	37	22	29921847	29921847	+	Silent	SNP	C	C	T	rs150202892		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:29921847C>T	ENST00000490103.1	-	12	1277	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	THOC5_ENST00000397871.1_Silent_p.L385L|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Silent_p.L385L|THOC5_ENST00000397872.1_Silent_p.L385L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	385					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)	p.L385L(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGGGTGATCAGCTCCATGG	0.547																																						uc003afr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(3)	3						c.(1153-1155)CTG>CTA		THO complex 5		C	,,,	1,4405	2.1+/-5.4	0,1,2202	185.0	146.0	159.0		1155,1155,1155,1155	2.7	1.0	22	dbSNP_134	159	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	THOC5	NM_001002877.1,NM_001002878.1,NM_001002879.1,NM_003678.4	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	385/684,385/684,385/684,385/684	29921847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29921847C>T	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1155G>A	22.37:g.29921847C>T						THOC5_uc003afq.2_Silent_p.L46L|THOC5_uc003afs.2_Silent_p.L385L|THOC5_uc003aft.2_Silent_p.L385L|THOC5_uc003afu.2_Silent_p.L385L|THOC5_uc010gvo.2_Silent_p.L129L	p.L385L	NM_001002878	NP_001002878	Q13769	THOC5_HUMAN			13	1490	-			385					O60839|Q9UPZ5	Silent	SNP	ENST00000490103.1	37	c.1155G>A	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	7.025	0.559554	0.13436	2.27E-4	0.0	ENSG00000100296	ENST00000443089	.	.	.	6.07	2.69	0.31865	.	.	.	.	.	T	0.63331	0.2502	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63462	-0.6632	4	.	.	.	-8.0536	13.0626	0.59015	0.1051:0.5481:0.3468:0.0	.	.	.	.	N	256	.	.	D	-	1	0	THOC5	28251847	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	1.017000	0.29989	1.569000	0.49696	0.655000	0.94253	GAT		0.547	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1		NM_003678		11	52	0	0	0	0.001855	0	11	52		
OSBP2	23762	broad.mit.edu	37	22	31266642	31266642	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:31266642C>T	ENST00000332585.6	+	3	1184	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000407373.1_Silent_p.F187F|OSBP2_ENST00000403222.3_Silent_p.F195F|OSBP2_ENST00000437268.2_Silent_p.F102F|OSBP2_ENST00000382310.3_Silent_p.F360F|OSBP2_ENST00000446658.2_Silent_p.F360F	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	360					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.F360F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CCACCCTCTTCCGCATCACAT	0.647																																						uc003aiy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)|skin(1)	2						c.(1078-1080)TTC>TTT		oxysterol binding protein 2 isoform a							54.0	62.0	59.0					22																	31266642		2141	4246	6387	SO:0001819	synonymous_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31266642C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1080C>T	22.37:g.31266642C>T						OSBP2_uc011ala.1_Silent_p.F195F|OSBP2_uc010gwc.1_Silent_p.F187F|OSBP2_uc003aix.1_Silent_p.F360F|OSBP2_uc011alb.1_Silent_p.F360F|OSBP2_uc003aiz.1_Silent_p.F360F|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.1_Silent_p.F102F	p.F360F	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			3	1184	+			360					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	ENST00000332585.6	37	c.1080C>T	CCDS43002.1																																																																																				0.647	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2		NM_030758		7	24	0	0	0	0.001984	0	7	24		
RTCB	51493	broad.mit.edu	37	22	32788307	32788307	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:32788307C>T	ENST00000216038.5	-	11	1428	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	RTCB_ENST00000451746.2_Silent_p.*176*	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.D444N(1)									TCCTGGAAATCTAAATTACGT	0.413																																						uc003amm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1330-1332)GAT>AAT		hypothetical protein LOC51493							102.0	93.0	96.0					22																	32788307		2203	4300	6503	SO:0001583	missense	51493				cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding	g.chr22:32788307C>T	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.1330G>A	22.37:g.32788307C>T	ENSP00000216038:p.Asp444Asn						p.D444N	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN			11	1461	-			444						Missense_Mutation	SNP	ENST00000216038.5	37	c.1330G>A	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.699977	0.68501	.	.	ENSG00000100220	ENST00000216038	T	0.29917	1.55	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.33668	1.02	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	T	0.03473	-1.1033	10	0.25106	T	0.35	-31.1457	20.1731	0.98165	0.0:1.0:0.0:0.0	.	444	Q9Y3I0	RTCB_HUMAN	N	444	ENSP00000216038:D444N	ENSP00000216038:D444N	D	-	1	0	C22orf28	31118307	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.805000	0.86005	2.768000	0.95171	0.655000	0.94253	GAT		0.413	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3		NM_014306		8	40	0	0	0	0.004482	0	8	40		
TIMP3	7078	broad.mit.edu	37	22	33255169	33255169	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:33255169C>T	ENST00000266085.6	+	5	742	c.441C>T	c.(439-441)atC>atT	p.I147I	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	147	Mediates interaction with EFEMP1.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.I147I(1)		endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AATTGCAGATCAAGTCCTGCT	0.537																																						uc003anb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)	1						c.(439-441)ATC>ATT		tissue inhibitor of metalloproteinase 3							124.0	110.0	115.0					22																	33255169		2203	4300	6503	SO:0001819	synonymous_variant	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255169C>T		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.441C>T	22.37:g.33255169C>T						SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	p.I147I	NM_000362	NP_000353	P35625	TIMP3_HUMAN			5	1627	+			147			Mediates interaction with EFEMP1.		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	ENST00000266085.6	37	c.441C>T	CCDS13911.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818517	0.90790	.	.	ENSG00000100234	ENST00000382049	.	.	.	5.36	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-5.6443	6.6128	0.22761	0.1522:0.6871:0.0:0.1608	.	.	.	.	X	150	.	ENSP00000371481:Q150X	Q	+	1	0	TIMP3	31585169	0.993000	0.37304	1.000000	0.80357	0.536000	0.34869	0.372000	0.20467	1.256000	0.44068	-0.310000	0.09108	CAA		0.537	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2		NM_000362		12	37	0	0	0	0.010729	0	12	37		
MYH9	4627	broad.mit.edu	37	22	36689431	36689431	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:36689431C>T	ENST00000216181.5	-	30	4269	c.4039G>A	c.(4039-4041)Gag>Aag	p.E1347K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1347					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)	p.E1347K(1)		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						TCCTCCTCCTCCTCCAGCTGC	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		1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(4039-4041)GAG>AAG		myosin, heavy polypeptide 9, non-muscle							81.0	77.0	78.0					22																	36689431		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.chr22:36689431C>T		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.4039G>A	22.37:g.36689431C>T	ENSP00000216181:p.Glu1347Lys						p.E1347K	NM_002473	NP_002464	P35579	MYH9_HUMAN			30	4270	-			1347			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4039G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064127	0.93898	.	.	ENSG00000100345	ENST00000216181	D	0.89485	-2.52	5.0	3.97	0.46021	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.95677	0.8594	H	0.94423	3.535	0.80722	D	1	D	0.58620	0.983	D	0.65773	0.938	D	0.96939	0.9686	10	0.87932	D	0	.	15.7214	0.77713	0.0:0.8629:0.1371:0.0	.	1347	P35579	MYH9_HUMAN	K	1347	ENSP00000216181:E1347K	ENSP00000216181:E1347K	E	-	1	0	MYH9	35019377	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.997000	0.70646	1.211000	0.43351	0.491000	0.48974	GAG		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3		NM_002473		13	43	0	0	0	0.001368	0	13	43		
POLR2F	5435	broad.mit.edu	37	22	38352817	38352817	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:38352817G>A	ENST00000442738.2	+	2	183	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	POLR2F_ENST00000407936.1_Missense_Mutation_p.E20K|POLR2F_ENST00000488684.1_Missense_Mutation_p.E20K|POLR2F_ENST00000405557.1_Missense_Mutation_p.E20K|POLR2F_ENST00000606538.1_Missense_Mutation_p.E20K|POLR2F_ENST00000460648.1_Missense_Mutation_p.E20K|POLR2F_ENST00000470701.1_Missense_Mutation_p.E15K	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	20					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.E20K(1)		breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					GGAGGAGGATGAAGGGCTAGA	0.488																																						uc003aul.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(58-60)GAA>AAA		DNA directed RNA polymerase II polypeptide F							181.0	156.0	164.0					22																	38352817		2203	4300	6503	SO:0001583	missense	5435				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity	g.chr22:38352817G>A		CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.58G>A	22.37:g.38352817G>A	ENSP00000403852:p.Glu20Lys					POLR2F_uc010gxi.2_5'UTR|POLR2F_uc003aum.2_RNA	p.E20K	NM_021974	NP_068809	P61218	RPAB2_HUMAN			2	179	+	Melanoma(58;0.045)		20					P41584|Q6IAY3	Missense_Mutation	SNP	ENST00000442738.2	37	c.58G>A	CCDS13963.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458496	0.63401	.	.	ENSG00000100142	ENST00000442738;ENST00000407936;ENST00000405557	.	.	.	5.33	4.32	0.51571	RNA polymerase subunit, RPB6/omega (1);	0.048432	0.85682	D	0.000000	T	0.56992	0.2023	L	0.54323	1.7	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.54364	-0.8305	9	0.35671	T	0.21	.	14.0482	0.64716	0.0726:0.0:0.9274:0.0	.	20	P61218	RPAB2_HUMAN	K	20	.	ENSP00000384112:E20K	E	+	1	0	POLR2F	36682763	1.000000	0.71417	0.997000	0.53966	0.580000	0.36256	8.180000	0.89694	1.382000	0.46385	0.655000	0.94253	GAA		0.488	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321570.1		NM_021974		8	38	0	0	0	0.00308	0	8	38		
RANGAP1	5905	broad.mit.edu	37	22	41647082	41647082	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr22:41647082G>T	ENST00000455915.2	-	12	2881	c.1412C>A	c.(1411-1413)tCt>tAt	p.S471Y	RANGAP1_ENST00000407260.4_Missense_Mutation_p.S416Y|RANGAP1_ENST00000405486.1_Missense_Mutation_p.S471Y|RANGAP1_ENST00000356244.3_Missense_Mutation_p.S471Y			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	471					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.S471Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGGAAGGCAGAGACCACCTT	0.562																																						uc003azs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1411-1413)TCT>TAT		Ran GTPase activating protein 1							188.0	128.0	148.0					22																	41647082		2203	4300	6503	SO:0001583	missense	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41647082G>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1412C>A	22.37:g.41647082G>T	ENSP00000401470:p.Ser471Tyr					RANGAP1_uc003azt.2_Missense_Mutation_p.S471Y|RANGAP1_uc003azu.2_Missense_Mutation_p.S471Y|RANGAP1_uc003azr.2_Translation_Start_Site|RANGAP1_uc010gyk.2_Translation_Start_Site|RANGAP1_uc011aoz.1_Missense_Mutation_p.S416Y	p.S471Y	NM_002883	NP_002874	P46060	RAGP1_HUMAN			12	2882	-			471					Q96JJ2	Missense_Mutation	SNP	ENST00000455915.2	37	c.1412C>A	CCDS14012.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529122	0.64860	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000407260	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.73	4.73	0.59995	Ran-GTPase activating protein 1, C-terminal (3);	0.331667	0.31577	N	0.007410	D	0.90998	0.7169	L	0.60455	1.87	0.09310	N	1	P;P	0.51791	0.948;0.939	P;P	0.46419	0.504;0.516	D	0.86139	0.1580	10	0.62326	D	0.03	-3.8183	11.901	0.52685	0.0:0.0:0.826:0.174	.	416;471	F8W7I9;P46060	.;RAGP1_HUMAN	Y	471;471;471;471;416	ENSP00000385866:S471Y;ENSP00000348577:S471Y;ENSP00000401470:S471Y;ENSP00000385354:S416Y	ENSP00000348577:S471Y	S	-	2	0	RANGAP1	39977028	0.203000	0.23435	0.694000	0.30210	0.994000	0.84299	2.158000	0.42329	2.192000	0.70111	0.555000	0.69702	TCT		0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1		NM_002883		9	35	1	0	1.12685e-05	0.004482	1.17097e-05	9	35		
TRNT1	51095	broad.mit.edu	37	3	3189210	3189210	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:3189210G>A	ENST00000251607.6	+	7	981	c.879G>A	c.(877-879)gtG>gtA	p.V293V	TRNT1_ENST00000280591.6_Silent_p.V273V	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	293					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)	p.V293V(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CAAAGCCAGTGACTCTTTTGG	0.353																																						uc003bpp.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(877-879)GTG>GTA		tRNA nucleotidyl transferase, CCA-adding, 1							88.0	94.0	92.0					3																	3189210		2203	4299	6502	SO:0001819	synonymous_variant	51095				protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding	g.chr3:3189210G>A	AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.879G>A	3.37:g.3189210G>A						TRNT1_uc010hbv.2_Silent_p.V273V|TRNT1_uc003bpm.2_RNA	p.V293V	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN		Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)	7	981	+			293					A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Silent	SNP	ENST00000251607.6	37	c.879G>A	CCDS2561.2																																																																																				0.353	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337616.1				22	47	0	0	0	0.003954	0	22	47		
ZFYVE20	64145	broad.mit.edu	37	3	15124116	15124116	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:15124116C>G	ENST00000253699.3	-	9	1212		c.e9-1		ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000476527.2_Splice_Site	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20						blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTGAGCTTGTCTGTAACCACA	0.572																																						uc003bzm.1		NaN																	1	Unknown(1)		urinary_tract(1)	skin(2)	2						c.e9-1		FYVE-finger-containing Rab5 effector protein							105.0	70.0	82.0					3																	15124116		2203	4300	6503	SO:0001630	splice_region_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15124116C>G	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.599-1G>C	3.37:g.15124116C>G						ZFYVE20_uc010hek.1_Splice_Site_p.N200_splice|ZFYVE20_uc011avn.1_Intron	p.N200_splice	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN			9	1213	-								B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Splice_Site	SNP	ENST00000253699.3	37	c.599_splice	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123649	0.77436	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.309	0.94177	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFYVE20	15099120	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.524000	0.81866	2.557000	0.86248	0.585000	0.79938	.		0.572	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2		NM_022340	Intron	10	18	0	0	0	0.006214	0	10	18		
EAF1	85403	broad.mit.edu	37	3	15475961	15475961	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:15475961C>T	ENST00000396842.2	+	4	867	c.442C>T	c.(442-444)Cca>Tca	p.P148S	EAF1_ENST00000432764.2_Missense_Mutation_p.P47S|RNU6-1024P_ENST00000384199.1_RNA|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	148	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.P148S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						ATTCAGAGCTCCAACGAAGCC	0.522																																						uc003bzu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(442-444)CCA>TCA		ELL associated factor 1							284.0	262.0	269.0					3																	15475961		2203	4300	6503	SO:0001583	missense	85403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding	g.chr3:15475961C>T	AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.442C>T	3.37:g.15475961C>T	ENSP00000380054:p.Pro148Ser					EAF1_uc011avq.1_Missense_Mutation_p.P47S	p.P148S	NM_033083	NP_149074	Q96JC9	EAF1_HUMAN			4	665	+			148			Pro-rich.		B4E3F5|Q8IW10	Missense_Mutation	SNP	ENST00000396842.2	37	c.442C>T	CCDS2626.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119024	0.56505	.	.	ENSG00000144597	ENST00000396842;ENST00000432764	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.71600	0.3359	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.62144	-0.6916	9	0.10902	T	0.67	-10.8738	19.9164	0.97064	0.0:1.0:0.0:0.0	.	47;148	B4E3F5;Q96JC9	.;EAF1_HUMAN	S	148;47	.	ENSP00000380054:P148S	P	+	1	0	EAF1	15450965	1.000000	0.71417	0.970000	0.41538	0.859000	0.49053	5.774000	0.68906	2.804000	0.96469	0.655000	0.94253	CCA		0.522	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252100.4		NM_033083		38	244	0	0	0	0.004878	0	38	244		
VIPR1	7433	broad.mit.edu	37	3	42573763	42573763	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:42573763C>T	ENST00000325123.4	+	10	1061	c.948C>T	c.(946-948)atC>atT	p.I316I	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1_ENST00000438259.2_Silent_p.I106I|VIPR1-AS1_ENST00000608869.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000433647.1_Silent_p.I275I|VIPR1_ENST00000543411.1_Silent_p.I268I|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	316					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.I316I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTTGCATCATCCGAATCCTGC	0.567																																						uc003clf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(946-948)ATC>ATT		vasoactive intestinal peptide receptor 1							154.0	141.0	146.0					3																	42573763		2203	4300	6503	SO:0001819	synonymous_variant	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42573763C>T	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.948C>T	3.37:g.42573763C>T						VIPR1_uc011azl.1_Silent_p.I268I|VIPR1_uc011azm.1_Silent_p.I106I|VIPR1_uc011azn.1_Silent_p.I289I|VIPR1_uc003clg.2_5'UTR	p.I316I	NM_004624	NP_004615	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	10	1072	+			316			Helical; Name=5; (Potential).		A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	c.948C>T	CCDS2698.1																																																																																				0.567	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4		NM_004624		18	29	0	0	0	0.006122	0	18	29		
CCRL2	9034	broad.mit.edu	37	3	46450087	46450087	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:46450087C>G	ENST00000399036.3	+	2	869	c.517C>G	c.(517-519)Cag>Gag	p.Q173E	CCRL2_ENST00000400882.2_Missense_Mutation_p.Q173E|CCRL2_ENST00000400880.3_Missense_Mutation_p.Q173E|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.Q185E	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	173					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)	p.Q173E(1)		lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTATAAACCTCAGATGGAAGA	0.463																																						uc003cpp.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(517-519)CAG>GAG		chemokine (C-C motif) receptor-like 2 isoform 1							91.0	87.0	89.0					3																	46450087		1923	4139	6062	SO:0001583	missense	9034				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	g.chr3:46450087C>G	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.517C>G	3.37:g.46450087C>G	ENSP00000381994:p.Gln173Glu					CCRL2_uc010hjg.2_Missense_Mutation_p.Q185E|CCRL2_uc010hjf.2_Missense_Mutation_p.Q173E	p.Q173E	NM_003965	NP_003956	O00421	CCRL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	802	+			173			Extracellular (Potential).		B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.517C>G	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969463	0.53614	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	37.252300	0.00166	N	0.000000	T	0.76644	0.4016	L	0.48986	1.54	0.09310	N	1	P;P	0.49185	0.902;0.92	B;P	0.47603	0.415;0.551	T	0.65344	-0.6191	10	0.48119	T	0.1	.	14.6611	0.68873	0.0:1.0:0.0:0.0	.	185;173	O00421-2;O00421	.;CCRL2_HUMAN	E	173;185;173;173;173	ENSP00000381994:Q173E;ENSP00000349967:Q185E;ENSP00000383677:Q173E;ENSP00000414957:Q173E;ENSP00000383678:Q173E	ENSP00000349967:Q185E	Q	+	1	0	CCRL2	46425091	0.000000	0.05858	0.026000	0.17262	0.529000	0.34654	0.933000	0.28897	2.523000	0.85059	0.491000	0.48974	CAG		0.463	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2				13	68	0	0	0	0.001368	0	13	68		
APEH	327	broad.mit.edu	37	3	49713611	49713611	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:49713611G>A	ENST00000296456.5	+	6	965	c.565G>A	c.(565-567)Gat>Aat	p.D189N	APEH_ENST00000438011.1_Missense_Mutation_p.D189N	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	189					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.D189N(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGCCAGCGATGATGAGATAGC	0.592																																						uc003cxf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(565-567)GAT>AAT		N-acylaminoacyl-peptide hydrolase							54.0	54.0	54.0					3																	49713611		2203	4300	6503	SO:0001583	missense	327				proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	g.chr3:49713611G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.565G>A	3.37:g.49713611G>A	ENSP00000296456:p.Asp189Asn					APEH_uc010hkw.1_Missense_Mutation_p.D189N	p.D189N	NM_001640	NP_001631	P13798	ACPH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	965	+			189					Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.565G>A	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698806	0.68501	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T	0.51325	0.9;0.9;0.71	5.03	5.03	0.67393	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.213782	0.47093	D	0.000258	T	0.31544	0.0800	N	0.08118	0	0.49687	D	0.999817	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.06972	-1.0797	10	0.37606	T	0.19	-26.6504	18.3837	0.90459	0.0:0.0:1.0:0.0	.	189;189	C9JIF9;P13798	.;ACPH_HUMAN	N	189;88;114;189;186	ENSP00000296456:D189N;ENSP00000415862:D189N;ENSP00000410366:D186N	ENSP00000296456:D189N	D	+	1	0	APEH	49688615	1.000000	0.71417	0.727000	0.30756	0.923000	0.55619	4.755000	0.62198	2.336000	0.79503	0.591000	0.81541	GAT		0.592	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2				6	46	0	0	0	0.001168	0	6	46		
MST1R	4486	broad.mit.edu	37	3	49933757	49933757	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:49933757C>T	ENST00000296474.3	-	10	2547	c.2520G>A	c.(2518-2520)ggG>ggA	p.G840G	MST1R_ENST00000344206.4_Silent_p.G840G|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	840	IPT/TIG 3.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.G840G(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACTCAGATTCCCTGCCACCC	0.597																																						uc003cxy.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(5)|lung(1)	6						c.(2518-2520)GGG>GGA		macrophage stimulating 1 receptor precursor							73.0	75.0	74.0					3																	49933757		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49933757C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2520G>A	3.37:g.49933757C>T						MST1R_uc011bdd.1_Silent_p.G841G|MST1R_uc011bdc.1_5'UTR	p.G840G	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	10	2784	-			840			IPT/TIG 3.|Extracellular (Potential).		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.2520G>A	CCDS2807.1																																																																																				0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1				22	75	0	0	0	0.003954	0	22	75		
TWF2	11344	broad.mit.edu	37	3	52264889	52264889	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52264889C>T	ENST00000305533.5	-	6	849	c.606G>A	c.(604-606)caG>caA	p.Q202Q	TLR9_ENST00000494383.1_Missense_Mutation_p.D63N|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Silent_p.Q202Q	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	202	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)	p.Q202Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCCACCATCTGGATGTAGT	0.617																																						uc003ddb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|skin(2)	4						c.(16-18)CAG>CAA		toll-like receptor 9 isoform A precursor	Chloroquine(DB00608)						89.0	85.0	87.0					3																	52264889		2203	4300	6503	SO:0001819	synonymous_variant	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52264889C>T	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.606G>A	3.37:g.52264889C>T						TLR9_uc003ddc.1_5'Flank|TWF2_uc003ddd.2_Silent_p.Q202Q|TWF2_uc010hmc.2_Silent_p.Q202Q	p.Q6Q	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	228	-			Error:Variant_position_missing_in_Q9NR96_after_alignment					Q9Y3F5	Silent	SNP	ENST00000305533.5	37	c.18G>A	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	C	6.805	0.517648	0.13005	.	.	ENSG00000173366	ENST00000494383	.	.	.	4.74	3.86	0.44501	.	.	.	.	.	T	0.67590	0.2909	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65446	-0.6166	4	.	.	.	.	12.8455	0.57827	0.0:0.9195:0.0:0.0805	.	.	.	.	N	63	.	.	D	-	1	0	RP11-330H6.5	52239929	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	1.327000	0.33746	0.984000	0.38629	0.455000	0.32223	GAT		0.617	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2				3	15	0	0	0	0.004672	0	3	15		
GLYCTK	132158	broad.mit.edu	37	3	52325046	52325046	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52325046G>A	ENST00000436784.2	+	3	508	c.448G>A	c.(448-450)Gat>Aat	p.D150N	GLYCTK_ENST00000305690.8_Missense_Mutation_p.D150N|GLYCTK_ENST00000354773.4_Missense_Mutation_p.D150N|GLYCTK_ENST00000471180.1_Missense_Mutation_p.D23N|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000461183.1_Missense_Mutation_p.D66N|GLYCTK_ENST00000473032.1_Missense_Mutation_p.D150N|GLYCTK_ENST00000477382.1_Missense_Mutation_p.D150N			Q8IVS8	GLCTK_HUMAN	glycerate kinase	150					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)	p.D150N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CCCGGACCGCGATGCGCTGCG	0.617																																						uc003ddo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(448-450)GAT>AAT		glycerate kinase isoform 1							98.0	77.0	84.0					3																	52325046		2203	4300	6503	SO:0001583	missense	132158				protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding	g.chr3:52325046G>A		CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.448G>A	3.37:g.52325046G>A	ENSP00000389175:p.Asp150Asn					GLYCTK_uc003ddq.2_Missense_Mutation_p.D150N|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Missense_Mutation_p.D150N|GLYCTK_uc003ddr.2_5'Flank	p.D150N	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)	3	544	+			150					Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	ENST00000436784.2	37	c.448G>A	CCDS2852.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784880	0.49997	.	.	ENSG00000168237	ENST00000461183;ENST00000473032;ENST00000305690;ENST00000354773;ENST00000471180;ENST00000436784;ENST00000477382	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.38	5.38	0.77491	.	0.049369	0.85682	D	0.000000	T	0.37128	0.0992	N	0.05467	-0.045	0.54753	D	0.999986	D;P;B	0.65815	0.995;0.846;0.43	P;B;B	0.54312	0.748;0.129;0.107	T	0.21518	-1.0243	10	0.16896	T	0.51	-21.2652	19.1152	0.93336	0.0:0.0:1.0:0.0	.	150;150;150	Q8IVS8-2;Q8IVS8-4;Q8IVS8	.;.;GLCTK_HUMAN	N	66;150;150;150;23;150;150	ENSP00000417264:D66N;ENSP00000418951:D150N;ENSP00000301965:D150N;ENSP00000346825:D150N;ENSP00000417526:D23N;ENSP00000389175:D150N;ENSP00000419008:D150N	ENSP00000301965:D150N	D	+	1	0	GLYCTK	52300086	1.000000	0.71417	0.024000	0.17045	0.136000	0.21042	7.278000	0.78587	2.503000	0.84419	0.655000	0.94253	GAT		0.617	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350835.1		NM_145262		6	42	0	0	0	0.001168	0	6	42		
NISCH	11188	broad.mit.edu	37	3	52523592	52523592	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:52523592G>C	ENST00000479054.1	+	18	3426	c.3354G>C	c.(3352-3354)gaG>gaC	p.E1118D	NISCH_ENST00000345716.4_Missense_Mutation_p.E1118D			Q9Y2I1	NISCH_HUMAN	nischarin	1118					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.E1118D(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCTCGGAGGAGAATCAGATCC	0.677																																						uc011beg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(3352-3354)GAG>GAC		nischarin							70.0	74.0	73.0					3																	52523592		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52523592G>C	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3354G>C	3.37:g.52523592G>C	ENSP00000418232:p.Glu1118Asp					NISCH_uc003ded.3_Missense_Mutation_p.E1118D|NISCH_uc003dee.3_Missense_Mutation_p.E607D|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	p.E1118D	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	18	3426	+			1118					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.3354G>C	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771378	0.31320	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.09538	2.97;2.97	5.15	2.2	0.27929	.	0.272251	0.36234	N	0.002709	T	0.04227	0.0117	N	0.11201	0.11	0.27763	N	0.943754	B	0.06786	0.001	B	0.06405	0.002	T	0.37244	-0.9714	10	0.16896	T	0.51	-19.503	4.1481	0.10225	0.0826:0.2493:0.4699:0.1981	.	1118	Q9Y2I1	NISCH_HUMAN	D	1118;1118;462	ENSP00000418232:E1118D;ENSP00000339958:E1118D	ENSP00000339958:E1118D	E	+	3	2	NISCH	52498632	0.990000	0.36364	1.000000	0.80357	0.959000	0.62525	0.029000	0.13666	1.153000	0.42468	0.561000	0.74099	GAG		0.677	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1		NM_007184		12	77	0	0	0	0.010729	0	12	77		
PRKCD	5580	broad.mit.edu	37	3	53212459	53212459	+	Silent	SNP	C	C	T	rs373946656		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:53212459C>T	ENST00000394729.2	+	2	349	c.21C>T	c.(19-21)atC>atT	p.I7I	PRKCD_ENST00000477794.2_3'UTR|PRKCD_ENST00000330452.3_Silent_p.I7I	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	7	C2.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.I7I(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	TCCTGCGCATCGCCTTCAACT	0.682																																						uc003dgl.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9						c.(19-21)ATC>ATT		protein kinase C, delta		C	,	0,4406		0,0,2203	47.0	44.0	45.0		21,21	-1.1	0.9	3		45	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRKCD	NM_006254.3,NM_212539.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	7/677,7/677	53212459	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53212459C>T		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.21C>T	3.37:g.53212459C>T						PRKCD_uc003dgm.2_Silent_p.I7I|PRKCD_uc003dgn.2_Silent_p.I7I	p.I7I	NM_006254	NP_006245	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	3	374	+		Ovarian(412;0.0728)	7			C2.		B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	ENST00000394729.2	37	c.21C>T	CCDS2870.1																																																																																				0.682	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1				6	42	0	0	0	0.00308	0	6	42		
PDZRN3	23024	broad.mit.edu	37	3	73438983	73438983	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:73438983C>T	ENST00000263666.4	-	7	1514	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	PDZRN3_ENST00000479530.1_Missense_Mutation_p.G184E|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.G124E|PDZRN3_ENST00000535920.1_Missense_Mutation_p.G189E|PDZRN3_ENST00000466780.1_Missense_Mutation_p.G124E	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	467	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G467E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AATGCGGTCTCCTTCTCGGAT	0.468																																						uc003dpl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1399-1401)GGA>GAA		PDZ domain containing ring finger 3							181.0	136.0	151.0					3																	73438983		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73438983C>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1400G>A	3.37:g.73438983C>T	ENSP00000263666:p.Gly467Glu					PDZRN3_uc011bgh.1_Missense_Mutation_p.G124E|PDZRN3_uc010hoe.1_Missense_Mutation_p.G165E|PDZRN3_uc011bgf.1_Missense_Mutation_p.G184E|PDZRN3_uc011bgg.1_Missense_Mutation_p.G187E	p.G467E	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	7	1496	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	467			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1400G>A	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.079699|5.079699	0.94050|0.94050	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.58797	.|0.31;0.31;0.31;0.31;0.31;0.31	5.43|5.43	5.43|5.43	0.79202|0.79202	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87466|0.87466	0.6184|0.6184	H|H	0.99498|0.99498	4.595|4.595	0.80722|0.80722	D|D	1|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;1.0;1.0	D|D	0.92995|0.92995	0.6418|0.6418	5|10	.|0.87932	.|D	.|0	.|.	18.8532|18.8532	0.92241|0.92241	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|189;184;184;467	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	K|E	64|467;189;124;124;184;467;165	.|ENSP00000263666:G467E;ENSP00000442026:G189E;ENSP00000418168:G124E;ENSP00000418484:G124E;ENSP00000418624:G184E;ENSP00000419250:G165E	.|ENSP00000263666:G467E	E|G	-|-	1|2	0|0	PDZRN3|PDZRN3	73521673|73521673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.638000|7.638000	0.83328|0.83328	2.547000|2.547000	0.85894|0.85894	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.468	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1		XM_041363		13	39	0	0	0	0.001855	0	13	39		
CNTN3	5067	broad.mit.edu	37	3	74350684	74350684	+	Missense_Mutation	SNP	C	C	A	rs201998015	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:74350684C>A	ENST00000263665.6	-	15	1987	c.1960G>T	c.(1960-1962)Gat>Tat	p.D654Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	654	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D654Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTCTTCCCATCGATGACCTCA	0.443																																						uc003dpm.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(3)|ovary(1)|skin(1)	5						c.(1960-1962)GAT>TAT		contactin 3 precursor							115.0	110.0	112.0					3																	74350684		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350684C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1960G>T	3.37:g.74350684C>A	ENSP00000263665:p.Asp654Tyr						p.D654Y	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	15	2040	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	654			Fibronectin type-III 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1960G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804634	0.70682	.	.	ENSG00000113805	ENST00000263665	T	0.58940	0.3	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.104089	0.64402	D	0.000003	T	0.75042	0.3796	L	0.60957	1.885	0.42614	D	0.993323	D	0.60575	0.988	D	0.74674	0.984	T	0.74399	-0.3678	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	654	Q9P232	CNTN3_HUMAN	Y	654	ENSP00000263665:D654Y	ENSP00000263665:D654Y	D	-	1	0	CNTN3	74433374	0.489000	0.26004	1.000000	0.80357	0.912000	0.54170	1.199000	0.32235	2.894000	0.99253	0.591000	0.81541	GAT		0.443	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1		NM_020872		3	71	1	0	0.004672	0.004672	0.00475469	3	71		
MYH15	22989	broad.mit.edu	37	3	108203941	108203941	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:108203941C>G	ENST00000273353.3	-	12	1227	c.1171G>C	c.(1171-1173)Gaa>Caa	p.E391Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	391	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E391Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTTACTTTCTGTGCCATCT	0.383																																						uc003dxa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(2)	7						c.(1171-1173)GAA>CAA		myosin, heavy polypeptide 15							125.0	116.0	119.0					3																	108203941		1870	4101	5971	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108203941C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1171G>C	3.37:g.108203941C>G	ENSP00000273353:p.Glu391Gln						p.E391Q	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			12	1228	-			391			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1171G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487469	0.84854	.	.	ENSG00000144821	ENST00000273353	D	0.88201	-2.35	5.91	4.06	0.47325	Myosin head, motor domain (2);	.	.	.	.	D	0.94205	0.8140	M	0.85197	2.74	0.46317	D	0.998981	D	0.76494	0.999	D	0.91635	0.999	D	0.94590	0.7787	9	0.72032	D	0.01	.	11.8453	0.52381	0.0:0.8107:0.123:0.0664	.	391	Q9Y2K3	MYH15_HUMAN	Q	391	ENSP00000273353:E391Q	ENSP00000273353:E391Q	E	-	1	0	MYH15	109686631	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.843000	0.62838	1.507000	0.48752	0.555000	0.69702	GAA		0.383	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988		19	48	0	0	0	0.008871	0	19	48		
TMPRSS7	344805	broad.mit.edu	37	3	111769523	111769523	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:111769523G>A	ENST00000452346.2	+	9	1099	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.E240K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	366	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.E240K(1)|p.E95K(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCAGAGTGTGAAAACACAGT	0.398																																						uc010hqb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|kidney(1)	2						c.(718-720)GAA>AAA		transmembrane protease, serine 7							207.0	192.0	197.0					3																	111769523		1867	4100	5967	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111769523G>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1096G>A	3.37:g.111769523G>A	ENSP00000398236:p.Glu366Lys					TMPRSS7_uc011bhr.1_Missense_Mutation_p.E95K	p.E240K	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN			7	888	+			366			Extracellular (Potential).|CUB 2.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.718G>A		.	.	.	.	.	.	.	.	.	.	G	3.632	-0.075434	0.07184	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.89270	-2.49;-2.48	4.86	3.96	0.45880	CUB (3);	0.531595	0.19525	N	0.112197	T	0.80660	0.4665	N	0.19112	0.55	0.31128	N	0.70801	B;B	0.24317	0.101;0.034	B;B	0.25506	0.061;0.036	T	0.75085	-0.3442	10	0.26408	T	0.33	.	12.4707	0.55785	0.0:0.1695:0.8305:0.0	.	366;240	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	K	366;354;340;240	ENSP00000398236:E366K;ENSP00000411645:E240K	ENSP00000411645:E240K	E	+	1	0	TMPRSS7	113252213	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.409000	0.52657	1.131000	0.42111	0.460000	0.39030	GAA		0.398	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2		XM_293599		32	207	0	0	0	0.002836	0	32	207		
CD200R1L	344807	broad.mit.edu	37	3	112546253	112546253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:112546253C>T	ENST00000398214.1	-	3	616	c.391G>A	c.(391-393)Gat>Aat	p.D131N	CD200R1L_ENST00000448932.1_Missense_Mutation_p.D110N|CD200R1L_ENST00000488794.1_Missense_Mutation_p.D110N	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	131	Ig-like V-type.					integral component of membrane (GO:0016021)		p.D131N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AAATTCCCATCAGGTGTTACC	0.453																																						uc003dzi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(391-393)GAT>AAT		CD200 cell surface glycoprotein receptor 2							123.0	120.0	121.0					3																	112546253		2203	4300	6503	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112546253C>T	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.391G>A	3.37:g.112546253C>T	ENSP00000381272:p.Asp131Asn					CD200R1L_uc011bhw.1_Missense_Mutation_p.D110N|CD200R1L_uc010hqf.1_Missense_Mutation_p.D110N	p.D131N	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN			3	617	-			131			Ig-like V-type.|Extracellular (Potential).		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.391G>A	CCDS43131.1	.	.	.	.	.	.	.	.	.	.	C	8.709	0.911606	0.17833	.	.	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.10477	2.87;2.87;2.87	4.19	-4.08	0.03963	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.293420	0.04873	N	0.446329	T	0.07413	0.0187	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37407	-0.9707	10	0.22109	T	0.4	.	0.3814	0.00395	0.2687:0.2524:0.1318:0.3471	.	131	Q6Q8B3	MO2R2_HUMAN	N	131;110;110	ENSP00000381272:D131N;ENSP00000418413:D110N;ENSP00000415132:D110N	ENSP00000381272:D131N	D	-	1	0	CD200R1L	114028943	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.953000	0.00676	-1.148000	0.02847	-0.181000	0.13052	GAT		0.453	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1		NM_001008784		20	90	0	0	0	0.010504	0	20	90		
CD200R1L	344807	broad.mit.edu	37	3	112546398	112546398	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:112546398C>T	ENST00000398214.1	-	3	471	c.246G>A	c.(244-246)aaG>aaA	p.K82K	CD200R1L_ENST00000448932.1_Silent_p.K61K|CD200R1L_ENST00000488794.1_Silent_p.K61K	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	82	Ig-like V-type.					integral component of membrane (GO:0016021)		p.K82K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TTGTTTCTTTCTTGTAGGCTT	0.438																																						uc003dzi.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(244-246)AAG>AAA		CD200 cell surface glycoprotein receptor 2							162.0	154.0	157.0					3																	112546398		2203	4300	6503	SO:0001819	synonymous_variant	344807					integral to membrane	receptor activity	g.chr3:112546398C>T	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.246G>A	3.37:g.112546398C>T						CD200R1L_uc011bhw.1_Silent_p.K61K|CD200R1L_uc010hqf.1_Silent_p.K61K	p.K82K	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN			3	472	-			82			Ig-like V-type.|Extracellular (Potential).		Q6WHB7	Silent	SNP	ENST00000398214.1	37	c.246G>A	CCDS43131.1																																																																																				0.438	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1		NM_001008784		13	74	0	0	0	0.001855	0	13	74		
SPICE1	152185	broad.mit.edu	37	3	113172624	113172624	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:113172624C>T	ENST00000295872.4	-	14	2090	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	611					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)		p.E611K(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TCCAAATCTTCTCCCATGTGA	0.438																																						uc003eag.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1831-1833)GAA>AAA		coiled-coil domain containing 52							131.0	131.0	131.0					3																	113172624		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172624C>T	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1831G>A	3.37:g.113172624C>T	ENSP00000295872:p.Glu611Lys					CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.E507K	p.E611K	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN			14	2122	-			611					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1831G>A	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791620	0.70452	.	.	ENSG00000163611	ENST00000295872	T	0.31247	1.5	5.63	5.63	0.86233	.	0.317757	0.32970	N	0.005428	T	0.31702	0.0805	L	0.39898	1.24	0.34337	D	0.688345	P;P	0.44139	0.827;0.827	P;B	0.46758	0.526;0.442	T	0.23261	-1.0193	10	0.14252	T	0.57	-12.0388	15.1874	0.73016	0.0:1.0:0.0:0.0	.	507;611	B3KX77;Q8N0Z3	.;SPICE_HUMAN	K	611	ENSP00000295872:E611K	ENSP00000295872:E611K	E	-	1	0	SPICE1	114655314	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.590000	0.46154	2.650000	0.89964	0.557000	0.71058	GAA		0.438	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2		NM_144718		34	93	0	0	0	0.002836	0	34	93		
ATP6V1A	523	broad.mit.edu	37	3	113528247	113528247	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:113528247G>A	ENST00000273398.3	+	15	1935	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	ATP6V1A_ENST00000461496.1_3'UTR|ATP6V1A_ENST00000538620.1_Silent_p.Q576Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	609					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.Q609Q(1)|p.Q609H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	AAGACATGCAGAATGCATTCC	0.393																																						uc003eao.2		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(1)|lung(1)	ovary(2)|skin(1)	3						c.(1825-1827)CAG>CAA		ATPase, H+ transporting, lysosomal V1 subunit A							107.0	103.0	104.0					3																	113528247		2203	4300	6503	SO:0001819	synonymous_variant	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113528247G>A	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1827G>A	3.37:g.113528247G>A						ATP6V1A_uc011bik.1_Silent_p.Q576Q	p.Q609Q	NM_001690	NP_001681	P38606	VATA_HUMAN			15	1893	+			609					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Silent	SNP	ENST00000273398.3	37	c.1827G>A	CCDS2976.1																																																																																				0.393	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1		NM_001690		7	48	0	0	0	0.001984	0	7	48		
POLQ	10721	broad.mit.edu	37	3	121206874	121206874	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121206874G>C	ENST00000264233.5	-	16	5032	c.4904C>G	c.(4903-4905)tCa>tGa	p.S1635*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1635					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S1770*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TAGATCAAATGATGCCCCTGA	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4903-4905)TCA>TGA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							162.0	165.0	164.0					3																	121206874		2203	4300	6503	SO:0001587	stop_gained	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206874G>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4904C>G	3.37:g.121206874G>C	ENSP00000264233:p.Ser1635*					POLQ_uc003eed.2_Nonsense_Mutation_p.S807*	p.S1635*	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5033	-			1635					O95160|Q6VMB5	Nonsense_Mutation	SNP	ENST00000264233.5	37	c.4904C>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	G	45	11.599261	0.99581	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	6.06	6.06	0.98353	.	0.227351	0.39341	N	0.001393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.7322	0.69391	0.0686:0.0:0.9314:0.0	.	.	.	.	X	1258;1635;1771	.	ENSP00000264233:S1635X	S	-	2	0	POLQ	122689564	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.438000	0.66550	2.882000	0.98803	0.655000	0.94253	TCA		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		63	166	0	0	0	0.00361	0	63	166		
GOLGB1	2804	broad.mit.edu	37	3	121411306	121411306	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121411306C>T	ENST00000340645.5	-	14	7015	c.6890G>A	c.(6889-6891)cGc>cAc	p.R2297H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R2302H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2297					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R2297H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTATAGGTGGCGTGTCTCTTC	0.433																																						uc003eei.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|breast(2)|skin(2)	10						c.(6889-6891)CGC>CAC		golgi autoantigen, golgin subfamily b,							107.0	108.0	108.0					3																	121411306		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121411306C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6890G>A	3.37:g.121411306C>T	ENSP00000341848:p.Arg2297His					GOLGB1_uc010hrc.2_Missense_Mutation_p.R2302H|GOLGB1_uc003eej.3_Missense_Mutation_p.R2263H	p.R2297H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7016	-			2297			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.6890G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391183	0.25118	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14391	2.51;2.51	5.91	-1.96	0.07525	.	0.887861	0.09609	N	0.779219	T	0.14657	0.0354	L	0.44542	1.39	0.09310	N	1	D;D;D	0.56287	0.975;0.975;0.966	P;P;P	0.46076	0.503;0.503;0.472	T	0.30679	-0.9970	10	0.54805	T	0.06	.	11.1768	0.48603	0.0:0.2516:0.0:0.7484	.	2302;2302;2297	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	H	2297;2302	ENSP00000341848:R2297H;ENSP00000377275:R2302H	ENSP00000341848:R2297H	R	-	2	0	GOLGB1	122893996	0.003000	0.15002	0.006000	0.13384	0.972000	0.66771	0.400000	0.20932	-0.239000	0.09710	0.655000	0.94253	CGC		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1		NM_004487		13	90	0	0	0	0.001855	0	13	90		
ILDR1	286676	broad.mit.edu	37	3	121725918	121725918	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:121725918G>A	ENST00000344209.5	-	2	275	c.149C>T	c.(148-150)tCt>tTt	p.S50F	ILDR1_ENST00000462014.1_Missense_Mutation_p.S62F|ILDR1_ENST00000273691.3_Missense_Mutation_p.S50F|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.S50F	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	50	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.S50F(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GAGCTGGGCAGAGGTGGTGTA	0.527																																						uc003ees.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(148-150)TCT>TTT		immunoglobulin-like domain containing receptor							179.0	137.0	152.0					3																	121725918		2203	4300	6503	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121725918G>A	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.149C>T	3.37:g.121725918G>A	ENSP00000345667:p.Ser50Phe					ILDR1_uc003eeq.2_Missense_Mutation_p.S62F|ILDR1_uc003eer.2_Missense_Mutation_p.S50F|ILDR1_uc010hrg.2_Missense_Mutation_p.S50F	p.S50F	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	2	255	-			50			Extracellular (Potential).|Ig-like V-type.		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.149C>T	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783973	0.90282	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000383663;ENST00000393631;ENST00000462014	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73946	0.3652	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	T	0.77005	-0.2748	10	0.87932	D	0	-14.4259	16.9785	0.86321	0.0:0.0:1.0:0.0	.	50;50;50;62	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	F	50;50;50;50;62	ENSP00000273691:S50F;ENSP00000345667:S50F;ENSP00000377251:S50F;ENSP00000419414:S62F	ENSP00000273691:S50F	S	-	2	0	ILDR1	123208608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.598000	0.87819	0.650000	0.86243	TCT		0.527	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1		NM_175924		9	58	0	0	0	0.008291	0	9	58		
RUVBL1	8607	broad.mit.edu	37	3	127831851	127831851	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:127831851G>A	ENST00000322623.5	-	3	340	c.241C>T	c.(241-243)Ctg>Ttg	p.L81L	RUVBL1_ENST00000417360.1_Silent_p.L81L|RUVBL1_ENST00000464873.1_Silent_p.L21L	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	81					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.L81L(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GCAATAGCCAGAGCCAGAGCT	0.483																																						uc003ekh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(241-243)CTG>TTG		RuvB-like 1							95.0	91.0	93.0					3																	127831851		2203	4300	6503	SO:0001819	synonymous_variant	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127831851G>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.241C>T	3.37:g.127831851G>A						RUVBL1_uc003ekf.2_Silent_p.L21L|RUVBL1_uc010hss.2_Silent_p.L81L	p.L81L	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	3	345	-			81					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Silent	SNP	ENST00000322623.5	37	c.241C>T	CCDS3047.1																																																																																				0.483	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2				9	82	0	0	0	0.004482	0	9	82		
MRPL3	11222	broad.mit.edu	37	3	131217033	131217033	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:131217033G>A	ENST00000264995.3	-	4	605	c.458C>T	c.(457-459)tCa>tTa	p.S153L	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Missense_Mutation_p.S180L	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	153					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S153L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						ACGAAAACGTGATACAGTTTT	0.348																																						uc003eoh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(457-459)TCA>TTA		mitochondrial ribosomal protein L3							150.0	135.0	140.0					3																	131217033		2202	4300	6502	SO:0001583	missense	11222				translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr3:131217033G>A	X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.458C>T	3.37:g.131217033G>A	ENSP00000264995:p.Ser153Leu					MRPL3_uc011blo.1_Missense_Mutation_p.S48L|MRPL3_uc011blp.1_Missense_Mutation_p.S180L	p.S153L	NM_007208	NP_009139	P09001	RM03_HUMAN			4	622	-			153					Q6IBT2	Missense_Mutation	SNP	ENST00000264995.3	37	c.458C>T	CCDS3071.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886976	0.52014	.	.	ENSG00000114686	ENST00000264995;ENST00000425847;ENST00000507669	T;T;T	0.23348	1.91;1.91;1.91	4.96	4.09	0.47781	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.062767	0.64402	N	0.000003	T	0.42200	0.1192	L	0.55990	1.75	0.58432	D	0.999995	D;P	0.56035	0.974;0.924	P;D	0.63488	0.886;0.915	T	0.23154	-1.0196	10	0.52906	T	0.07	-12.6844	12.2142	0.54396	0.0841:0.0:0.9159:0.0	.	180;153	E7ETU7;P09001	.;RM03_HUMAN	L	153;180;48	ENSP00000264995:S153L;ENSP00000398536:S180L;ENSP00000422419:S48L	ENSP00000264995:S153L	S	-	2	0	MRPL3	132699723	1.000000	0.71417	0.730000	0.30809	0.396000	0.30629	7.474000	0.81024	1.091000	0.41335	0.650000	0.86243	TCA		0.348	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356471.3		NM_007208		18	71	0	0	0	0.008871	0	18	71		
TF	7018	broad.mit.edu	37	3	133494392	133494392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:133494392C>T	ENST00000402696.3	+	15	2288	c.1803C>T	c.(1801-1803)gcC>gcT	p.A601A	TF_ENST00000264998.3_Silent_p.A474A	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	601	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.A601A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TGGCCAGAGCCCCGAATCACG	0.512																																						uc003epu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1801-1803)GCC>GCT		transferrin precursor	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						179.0	174.0	176.0					3																	133494392		2203	4300	6503	SO:0001819	synonymous_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133494392C>T		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1803C>T	3.37:g.133494392C>T						TF_uc011blt.1_Silent_p.A474A|TF_uc003epw.1_Silent_p.T40T|TF_uc003epv.1_Silent_p.A601A	p.A601A	NM_001063	NP_001054	P02787	TRFE_HUMAN			20	3531	+			601			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	c.1803C>T	CCDS3080.1																																																																																				0.512	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1		NM_001063		13	179	0	0	0	0.001855	0	13	179		
ATR	545	broad.mit.edu	37	3	142188970	142188970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:142188970G>C	ENST00000350721.4	-	37	6398	c.6277C>G	c.(6277-6279)Cta>Gta	p.L2093V	ATR_ENST00000383101.3_Missense_Mutation_p.L2029V|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2093	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L2093V(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAAGCCATAGAGTTAACATT	0.318								Other conserved DNA damage response genes																														uc003eux.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(6277-6279)CTA>GTA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							115.0	104.0	108.0					3																	142188970		2202	4296	6498	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142188970G>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6277C>G	3.37:g.142188970G>C	ENSP00000343741:p.Leu2093Val					ATR_uc003euy.1_5'Flank	p.L2093V	NM_001184	NP_001175	Q13535	ATR_HUMAN			37	6399	-			2093			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6277C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012860	0.54468	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.07908	3.36;3.15	5.34	3.56	0.40772	PIK-related kinase (1);	0.072630	0.56097	D	0.000036	T	0.14356	0.0347	L	0.60957	1.885	0.80722	D	1	D	0.53745	0.962	P	0.50162	0.633	T	0.00870	-1.1533	10	0.59425	D	0.04	-1.6554	10.0284	0.42085	0.237:0.0:0.763:0.0	.	2093	Q13535	ATR_HUMAN	V	2093;2029	ENSP00000343741:L2093V;ENSP00000372581:L2029V	ENSP00000343741:L2093V	L	-	1	2	ATR	143671660	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	2.465000	0.45075	0.744000	0.32741	0.585000	0.79938	CTA		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2		NM_001184		4	22	0	0	0	0.009096	0	4	22		
ZIC1	7545	broad.mit.edu	37	3	147131226	147131226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:147131226C>T	ENST00000282928.4	+	3	1961	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	411	Ser-rich.				adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)	p.S411F(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCATCGTGTCTCCCTCCACA	0.607																																						uc003ewe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1231-1233)TCT>TTT		zinc finger protein of the cerebellum 1							139.0	119.0	126.0					3																	147131226		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147131226C>T	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1232C>T	3.37:g.147131226C>T	ENSP00000282928:p.Ser411Phe						p.S411F	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			3	1951	+			411			Ser-rich.		Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1232C>T	CCDS3136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.456642|4.456642	0.84317|0.84317	.|.	.|.	ENSG00000152977|ENSG00000152977	ENST00000488404|ENST00000282928	.|T	.|0.15603	.|2.41	3.37|3.37	3.37|3.37	0.38596|0.38596	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.45577|0.45577	0.1349|0.1349	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|D	.|0.69142	.|0.962	T|T	0.58629|0.58629	-0.7603|-0.7603	5|10	.|0.87932	.|D	.|0	.|.	14.7459|14.7459	0.69490|0.69490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|411	.|Q15915	.|ZIC1_HUMAN	F|F	100|411	.|ENSP00000282928:S411F	.|ENSP00000282928:S411F	L|S	+|+	1|2	0|0	ZIC1|ZIC1	148613916|148613916	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.414000|5.414000	0.66405|0.66405	1.431000|1.431000	0.47355|0.47355	0.462000|0.462000	0.41574|0.41574	CTC|TCT		0.607	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1		NM_003412		11	72	0	0	0	0.010729	0	11	72		
IGSF10	285313	broad.mit.edu	37	3	151163978	151163978	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:151163978G>C	ENST00000282466.3	-	4	3790	c.3791C>G	c.(3790-3792)tCt>tGt	p.S1264C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1264					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S1264C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGTATTAGATGGAATTTG	0.458																																						uc011bod.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(3790-3792)TCT>TGT		immunoglobulin superfamily, member 10 precursor							220.0	203.0	209.0					3																	151163978		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151163978G>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3791C>G	3.37:g.151163978G>C	ENSP00000282466:p.Ser1264Cys						p.S1264C	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3791	-			1264					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3791C>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447310	0.43429	.	.	ENSG00000152580	ENST00000282466	T	0.70164	-0.46	5.0	4.12	0.48240	.	0.537909	0.15211	N	0.274451	T	0.56396	0.1982	L	0.34521	1.04	0.09310	N	1	D	0.58620	0.983	P	0.46975	0.533	T	0.53913	-0.8371	10	0.87932	D	0	.	5.086	0.14682	0.0837:0.145:0.6219:0.1494	.	1264	Q6WRI0	IGS10_HUMAN	C	1264	ENSP00000282466:S1264C	ENSP00000282466:S1264C	S	-	2	0	IGSF10	152646668	0.013000	0.17824	0.014000	0.15608	0.023000	0.10783	1.942000	0.40243	2.340000	0.79590	0.591000	0.81541	TCT		0.458	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		24	114	0	0	0	0.00333	0	24	114		
IGSF10	285313	broad.mit.edu	37	3	151164002	151164002	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:151164002G>A	ENST00000282466.3	-	4	3766	c.3767C>T	c.(3766-3768)tCa>tTa	p.S1256L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1256					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.S1256L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACACTTGTTGAAAGTGTGGT	0.418																																						uc011bod.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(3766-3768)TCA>TTA		immunoglobulin superfamily, member 10 precursor							221.0	206.0	211.0					3																	151164002		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164002G>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3767C>T	3.37:g.151164002G>A	ENSP00000282466:p.Ser1256Leu						p.S1256L	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3767	-			1256					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3767C>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326721	0.24080	.	.	ENSG00000152580	ENST00000282466	T	0.70516	-0.49	5.0	2.02	0.26589	.	0.423150	0.17468	N	0.173179	T	0.42877	0.1222	N	0.08118	0	0.09310	N	0.999999	B	0.12630	0.006	B	0.12156	0.007	T	0.20273	-1.0280	10	0.39692	T	0.17	.	1.5868	0.02646	0.2479:0.1418:0.4649:0.1453	.	1256	Q6WRI0	IGS10_HUMAN	L	1256	ENSP00000282466:S1256L	ENSP00000282466:S1256L	S	-	2	0	IGSF10	152646692	0.038000	0.19896	0.002000	0.10522	0.041000	0.13682	0.946000	0.29069	0.456000	0.26937	0.591000	0.81541	TCA		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		23	123	0	0	0	0.00333	0	23	123		
PLCH1	23007	broad.mit.edu	37	3	155232674	155232674	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:155232674C>G	ENST00000340059.7	-	11	1434		c.e11-1		PLCH1_ENST00000460012.1_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.?(2)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCCCATTACTCTGCAAAGAAT	0.348																																						uc011bok.1		NaN																	2	Unknown(2)		urinary_tract(2)	skin(3)|ovary(1)	4						c.e11-1		phospholipase C eta 1 isoform a							73.0	67.0	69.0					3																	155232674		2203	4300	6503	SO:0001630	splice_region_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155232674C>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1435-1G>C	3.37:g.155232674C>G						PLCH1_uc011boj.1_Splice_Site_p.S479_splice|PLCH1_uc011bol.1_Splice_Site_p.S461_splice	p.S479_splice	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1712	-								Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Splice_Site	SNP	ENST00000340059.7	37	c.1435_splice	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861804	0.71949	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCH1	156715368	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.133000	0.77259	2.735000	0.93741	0.655000	0.94253	.		0.348	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996	Intron	5	36	0	0	0	0.000602	0	5	36		
LXN	56925	broad.mit.edu	37	3	158383171	158383171	+	IGR	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:158383171G>C	ENST00000264265.3	-	0	1116				GFM1_ENST00000490261.1_3'UTR|GFM1_ENST00000478576.1_Missense_Mutation_p.E476Q|GFM1_ENST00000264263.5_Missense_Mutation_p.E495Q|GFM1_ENST00000486715.1_Missense_Mutation_p.E476Q	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin						detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)	p.E476Q(1)		breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTTACAAGAGAAGATCCCAC	0.348																																						uc003fce.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(1426-1428)GAA>CAA		G elongation factor, mitochondrial 1 precursor							49.0	51.0	51.0					3																	158383171		2203	4297	6500	SO:0001628	intergenic_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158383171G>C	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807		3.37:g.158383171G>C						GFM1_uc003fcd.2_Missense_Mutation_p.E476Q|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.E407Q	p.E476Q	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		12	1533	+			476					Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	c.1426G>C	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266674	0.95399	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.80653	-1.4;-1.4;-1.4	6.17	6.17	0.99709	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.91663	3.23	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.812	D;D;P	0.91635	0.999;0.999;0.486	D	0.92854	0.6300	10	0.87932	D	0	-22.0177	20.8794	0.99867	0.0:0.0:1.0:0.0	.	495;476;476	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	Q	476;476;495	ENSP00000419038:E476Q;ENSP00000418755:E476Q;ENSP00000264263:E495Q	ENSP00000264263:E495Q	E	+	1	0	GFM1	159865865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.163000	0.94750	2.941000	0.99782	0.655000	0.94253	GAA		0.348	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1		NM_020169		8	36	0	0	0	0.006214	0	8	36		
LXN	56925	broad.mit.edu	37	3	158384153	158384153	+	IGR	SNP	G	G	T	rs200818012		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:158384153G>T	ENST00000264265.3	-	0	1116				GFM1_ENST00000478576.1_Nonsense_Mutation_p.E527*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.E546*|GFM1_ENST00000486715.1_Nonsense_Mutation_p.E527*	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin						detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)	p.E527*(1)		breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCCTTTCGAGAGACCATTAC	0.358																																						uc003fce.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(1579-1581)GAG>TAG		G elongation factor, mitochondrial 1 precursor							57.0	52.0	54.0					3																	158384153		2203	4300	6503	SO:0001628	intergenic_variant	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158384153G>T	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807		3.37:g.158384153G>T						GFM1_uc003fcd.2_Nonsense_Mutation_p.E527*|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Nonsense_Mutation_p.E458*	p.E527*	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		13	1686	+			527					Q96PN2|Q9NQS6	Nonsense_Mutation	SNP	ENST00000264265.3	37	c.1579G>T	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	G	38	6.723475	0.97788	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-11.8776	20.1379	0.98040	0.0:0.0:1.0:0.0	.	.	.	.	X	527;527;546	.	ENSP00000264263:E546X	E	+	1	0	GFM1	159866847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.036000	0.93758	2.779000	0.95612	0.655000	0.94253	GAG		0.358	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1		NM_020169		7	31	1	0	8.12818e-05	0.001984	8.35834e-05	7	31		
WDR49	151790	broad.mit.edu	37	3	167245664	167245664	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:167245664C>T	ENST00000308378.3	-	11	1797	c.1492G>A	c.(1492-1494)Gac>Aac	p.D498N	WDR49_ENST00000476376.1_Missense_Mutation_p.D323N|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	498								p.D498N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATACTGCAGTCTGCAGAGGAG	0.413																																						uc003fev.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1492-1494)GAC>AAC		WD repeat domain 49							164.0	147.0	153.0					3																	167245664		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167245664C>T	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1492G>A	3.37:g.167245664C>T	ENSP00000311343:p.Asp498Asn					WDR49_uc003feu.1_Missense_Mutation_p.D323N|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	p.D498N	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			11	1798	-			498			WD 8.		Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1492G>A	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920419	0.73098	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.53640	0.73;0.61	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.141954	0.64402	D	0.000009	T	0.66025	0.2748	M	0.74258	2.255	0.80722	D	1	D	0.67145	0.996	P	0.60345	0.873	T	0.70044	-0.4980	10	0.87932	D	0	.	16.2509	0.82485	0.0:1.0:0.0:0.0	.	498	Q8IV35	WDR49_HUMAN	N	498;323	ENSP00000311343:D498N;ENSP00000420508:D323N	ENSP00000311343:D498N	D	-	1	0	WDR49	168728358	0.999000	0.42202	0.983000	0.44433	0.432000	0.31715	5.263000	0.65507	2.577000	0.86979	0.544000	0.68410	GAC		0.413	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3		NM_178824		5	25	0	0	0	0.000602	0	5	25		
PDCD10	11235	broad.mit.edu	37	3	167414891	167414891	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:167414891G>A	ENST00000392750.2	-	5	591	c.174C>T	c.(172-174)ctC>ctT	p.L58L	PDCD10_ENST00000461494.1_Silent_p.L58L|PDCD10_ENST00000487947.2_Silent_p.L58L|PDCD10_ENST00000497056.2_Silent_p.L58L|PDCD10_ENST00000473645.2_Silent_p.L58L|PDCD10_ENST00000471885.1_Silent_p.L58L|PDCD10_ENST00000470131.1_Silent_p.L58L|PDCD10_ENST00000492396.1_5'UTR	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	58					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.L58L(1)		central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TGTCTTGTGTGAGACCTGGAT	0.333																																						uc003fex.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)|central_nervous_system(1)	2						c.(172-174)CTC>CTT		programmed cell death 10							84.0	87.0	86.0					3																	167414891		2202	4300	6502	SO:0001819	synonymous_variant	11235	Familial_Cerebral_Cavernous_Angioma			angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding	g.chr3:167414891G>A	AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.174C>T	3.37:g.167414891G>A						PDCD10_uc003fez.2_Silent_p.L58L|PDCD10_uc003fey.2_Silent_p.L58L	p.L58L	NM_007217	NP_009148	Q9BUL8	PDC10_HUMAN			5	572	-			58					A8K515|D3DNN5|O14811	Silent	SNP	ENST00000392750.2	37	c.174C>T	CCDS3202.1	.	.	.	.	.	.	.	.	.	.	G	7.196	0.592560	0.13875	.	.	ENSG00000114209	ENST00000479121	.	.	.	5.9	-1.18	0.09617	.	.	.	.	.	T	0.51568	0.1682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41305	-0.9516	4	.	.	.	-16.7352	6.8539	0.24030	0.337:0.1932:0.4698:0.0	.	.	.	.	Y	39	.	.	H	-	1	0	PDCD10	168897585	1.000000	0.71417	0.987000	0.45799	0.823000	0.46562	1.000000	0.29770	-0.290000	0.09025	-3.430000	0.00037	CAC		0.333	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350966.2		NM_007217		10	42	0	0	0	0.006214	0	10	42		
SKIL	6498	broad.mit.edu	37	3	170108952	170108952	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:170108952G>C	ENST00000458537.3	+	5	2509	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	SKIL_ENST00000426052.2_Missense_Mutation_p.Q580H|SKIL_ENST00000413427.2_Missense_Mutation_p.Q554H|SKIL_ENST00000259119.4_Missense_Mutation_p.Q600H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	600					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.Q600H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			ATGTTGAACAGAAAGACTTAG	0.348																																						uc003fgu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1798-1800)CAG>CAC		SKI-like isoform 1							49.0	51.0	50.0					3																	170108952		2203	4300	6503	SO:0001583	missense	6498				cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	g.chr3:170108952G>C	X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1800G>C	3.37:g.170108952G>C	ENSP00000415243:p.Gln600His					SKIL_uc011bps.1_Missense_Mutation_p.Q580H|SKIL_uc003fgv.2_Missense_Mutation_p.Q554H|SKIL_uc003fgw.2_Missense_Mutation_p.Q600H	p.Q600H	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		6	2512	+	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		600			Potential.		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.1800G>C	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958723	0.74016	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.94503	0.8230	L	0.53249	1.67	0.38138	D	0.938361	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.95351	0.8447	10	0.66056	D	0.02	-12.6589	13.4168	0.60974	0.0753:0.0:0.9247:0.0	.	554;600	P12757-3;P12757	.;SKIL_HUMAN	H	600;580;554;600	ENSP00000259119:Q600H;ENSP00000406520:Q580H;ENSP00000400193:Q554H;ENSP00000415243:Q600H	ENSP00000259119:Q600H	Q	+	3	2	SKIL	171591646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.426000	0.59882	2.527000	0.85204	0.650000	0.86243	CAG		0.348	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4		NM_005414		7	52	0	0	0	0.001984	0	7	52		
EIF2B5	8893	broad.mit.edu	37	3	183860565	183860565	+	Splice_Site	SNP	A	A	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:183860565A>C	ENST00000273783.3	+	11	1668		c.e11-1		EIF2B5_ENST00000444495.1_Splice_Site	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa						astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)	p.?(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			ATGGCTTCTCAGGACTCAAGA	0.458																																						uc003fmp.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(5)	5						c.e11-2		eukaryotic translation initiation factor 2B,							22.0	25.0	24.0					3																	183860565		2201	4298	6499	SO:0001630	splice_region_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183860565A>C	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1547-1A>C	3.37:g.183860565A>C						EIF2B5_uc003fmq.2_Splice_Site_p.G237_splice|EIF2B5_uc003fmr.2_5'Flank	p.G516_splice	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		11	1911	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)							Q541Z1|Q96D04	Splice_Site	SNP	ENST00000273783.3	37	c.1547_splice	CCDS3252.1	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455408	0.43634	.	.	ENSG00000145191	ENST00000273783;ENST00000444495;ENST00000544027	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6004	0.76620	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2B5	185343259	1.000000	0.71417	0.997000	0.53966	0.580000	0.36256	7.460000	0.80816	2.160000	0.67779	0.459000	0.35465	.		0.458	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			Intron	6	13	0	0	0	0.001168	0	6	13		
VPS8	23355	broad.mit.edu	37	3	184570306	184570306	+	Missense_Mutation	SNP	C	C	G	rs370026889		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:184570306C>G	ENST00000437079.3	+	11	943	c.772C>G	c.(772-774)Ctt>Gtt	p.L258V	VPS8_ENST00000287546.4_Missense_Mutation_p.L258V|VPS8_ENST00000446204.2_Missense_Mutation_p.L256V|VPS8_ENST00000436792.2_Missense_Mutation_p.L256V	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	258							zinc ion binding (GO:0008270)	p.L258V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGATCCAACTCTTGCAATTTG	0.313													C|||	1	0.000199681	0.0	0.0	5008	,	,		17585	0.0		0.001	False		,,,				2504	0.0					uc003fpb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(766-768)CTT>GTT		vacuolar protein sorting 8 homolog isoform b		C	VAL/LEU,VAL/LEU	0,3626		0,0,1813	83.0	78.0	79.0		772,766	5.8	1.0	3		79	1,8147		0,1,4073	no	missense,missense	VPS8	NM_001009921.2,NM_015303.3	32,32	0,1,5886	GG,GC,CC		0.0123,0.0,0.0085	possibly-damaging,possibly-damaging	258/1429,256/1427	184570306	1,11773	1813	4074	5887	SO:0001583	missense	23355						zinc ion binding	g.chr3:184570306C>G	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.772C>G	3.37:g.184570306C>G	ENSP00000397879:p.Leu258Val					VPS8_uc010hyd.1_Missense_Mutation_p.L256V	p.L256V	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		10	937	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		258					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.766C>G	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882398	0.51908	0.0	1.23E-4	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	D;D;T;T	0.92299	-3.01;-3.01;-0.11;-0.11	5.77	5.77	0.91146	.	0.115539	0.64402	D	0.000011	D	0.93657	0.7974	L	0.38953	1.18	0.58432	D	0.999997	D;P	0.67145	0.996;0.897	D;B	0.75484	0.986;0.271	D	0.90503	0.4475	10	0.16420	T	0.52	-11.5183	19.9981	0.97395	0.0:1.0:0.0:0.0	.	256;256	Q8N3P4-2;Q8N3P4-3	.;.	V	258;258;256;256	ENSP00000287546:L258V;ENSP00000397879:L258V;ENSP00000404704:L256V;ENSP00000405483:L256V	ENSP00000287546:L258V	L	+	1	0	VPS8	186053000	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.721000	0.54941	2.729000	0.93468	0.655000	0.94253	CTT		0.313	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015303		4	35	0	0	0	0.009096	0	4	35		
MAP3K13	9175	broad.mit.edu	37	3	185191489	185191489	+	Silent	SNP	C	C	T	rs148543279	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:185191489C>T	ENST00000265026.3	+	11	2704	c.2370C>T	c.(2368-2370)ctC>ctT	p.L790L	MAP3K13_ENST00000424227.1_Silent_p.L790L|MAP3K13_ENST00000446828.1_Silent_p.L583L|MAP3K13_ENST00000443863.1_Silent_p.L646L|MAP3K13_ENST00000535426.1_Silent_p.L646L	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.L790L(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGTCATCCCTCGGCACCTCTC	0.512													C|||	4	0.000798722	0.003	0.0	5008	,	,		16888	0.0		0.0	False		,,,				2504	0.0					uc010hyf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(2368-2370)CTC>CTT		mitogen-activated protein kinase kinase kinase		C	,,	19,4387	24.3+/-50.5	0,19,2184	101.0	107.0	105.0		2370,1749,2370	-1.9	0.5	3	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MAP3K13	NM_001242314.1,NM_001242317.1,NM_004721.4	,,	0,20,6483	TT,TC,CC		0.0116,0.4312,0.1538	,,	790/967,583/760,790/967	185191489	20,12986	2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185191489C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2370C>T	3.37:g.185191489C>T						MAP3K13_uc011brt.1_Silent_p.L583L|MAP3K13_uc011bru.1_Silent_p.L646L|MAP3K13_uc003fpi.2_Silent_p.L790L|MAP3K13_uc010hyg.2_Silent_p.L480L	p.L790L	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		12	2636	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		790						Silent	SNP	ENST00000265026.3	37	c.2370C>T	CCDS3270.1																																																																																				0.512	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721		44	132	0	0	0	0.00361	0	44	132		
HRG	3273	broad.mit.edu	37	3	186395041	186395041	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:186395041C>T	ENST00000232003.4	+	7	1027	c.947C>T	c.(946-948)cCt>cTt	p.P316L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	316	Pro-rich.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.P316L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCACAAGGCCCTCCTCCACTA	0.498																																						uc003fqq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(946-948)CCT>CTT		histidine-rich glycoprotein precursor							203.0	172.0	182.0					3																	186395041		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395041C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.947C>T	3.37:g.186395041C>T	ENSP00000232003:p.Pro316Leu						p.P316L	NM_000412	NP_000403	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	970	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		316			Pro-rich.		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.947C>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	8.990	0.977586	0.18812	.	.	ENSG00000113905	ENST00000232003	T	0.10668	2.85	3.97	-1.51	0.08664	.	1.289190	0.05451	N	0.549439	T	0.04679	0.0127	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41805	-0.9488	10	0.30854	T	0.27	4.3697	6.2649	0.20922	0.5702:0.3332:0.0:0.0965	.	316	P04196	HRG_HUMAN	L	316	ENSP00000232003:P316L	ENSP00000232003:P316L	P	+	2	0	HRG	187877735	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.233000	0.09041	-0.278000	0.09180	-0.324000	0.08512	CCT		0.498	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1		NM_000412		13	70	0	0	0	0.001855	0	13	70		
XXYLT1	152002	broad.mit.edu	37	3	194790491	194790491	+	Missense_Mutation	SNP	C	C	T	rs570090519		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:194790491C>T	ENST00000310380.6	-	4	1243	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	XXYLT1_ENST00000356740.5_Missense_Mutation_p.V173I|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000437101.1_Missense_Mutation_p.V176I|XXYLT1_ENST00000429994.1_Missense_Mutation_p.V233I|XXYLT1_ENST00000355729.4_Missense_Mutation_p.V176I	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	379						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)	p.V379I(1)									TAGATCTTGACGTGGCCCTCA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.001					uc003fum.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1135-1137)GTC>ATC		hypothetical protein LOC152002							89.0	96.0	94.0					3																	194790491		2110	4222	6332	SO:0001583	missense	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194790491C>T	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.1135G>A	3.37:g.194790491C>T	ENSP00000309640:p.Val379Ile					C3orf21_uc003ful.2_Missense_Mutation_p.V176I|C3orf21_uc003fuk.2_Missense_Mutation_p.V173I	p.V379I	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	4	1243	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		379					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	ENST00000310380.6	37	c.1135G>A	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905744	0.33628	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000356740;ENST00000458652	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.9	5.03	0.67393	.	0.118124	0.56097	N	0.000023	T	0.08044	0.0201	N	0.12920	0.275	0.53005	D	0.99996	B;B;P	0.46578	0.184;0.331;0.88	B;B;B	0.26310	0.019;0.059;0.068	T	0.31052	-0.9957	10	0.15066	T	0.55	-18.1804	10.2334	0.43268	0.0:0.8502:0.0:0.1498	.	379;176;173	Q8NBI6;Q8NBI6-2;Q8NBI6-3	XXLT1_HUMAN;.;.	I	379;176;176;233;173;175	ENSP00000309640:V379I;ENSP00000409865:V176I;ENSP00000347967:V176I;ENSP00000399422:V233I;ENSP00000349179:V173I	ENSP00000309640:V379I	V	-	1	0	C3orf21	196271780	0.985000	0.35326	1.000000	0.80357	0.969000	0.65631	2.682000	0.46934	1.500000	0.48636	0.655000	0.94253	GTC		0.627	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1		NM_152531		12	101	0	0	0	0.001855	0	12	101		
LRCH3	84859	broad.mit.edu	37	3	197593030	197593030	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr3:197593030C>G	ENST00000425562.2	+	17	1813	c.1813C>G	c.(1813-1815)Cag>Gag	p.Q605E	LRCH3_ENST00000334859.4_Missense_Mutation_p.Q605E|LRCH3_ENST00000414675.2_Missense_Mutation_p.Q553E|LRCH3_ENST00000438796.2_Missense_Mutation_p.Q605E|LRCH3_ENST00000536618.1_Missense_Mutation_p.Q200E|LRCH3_ENST00000441090.2_Missense_Mutation_p.Q451E			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	605						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.Q605E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CCAGAGAAATCAGCCTCAGCG	0.433																																						uc011bul.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1813-1815)CAG>GAG		leucine-rich repeats and calponin homology (CH)							109.0	111.0	110.0					3																	197593030		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197593030C>G	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1813C>G	3.37:g.197593030C>G	ENSP00000393579:p.Gln605Glu					LRCH3_uc003fyj.1_Missense_Mutation_p.Q605E|LRCH3_uc011bum.1_Missense_Mutation_p.Q553E|LRCH3_uc011bun.1_Missense_Mutation_p.Q451E|LRCH3_uc003fyk.2_Missense_Mutation_p.Q200E	p.Q605E	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	17	1818	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		605					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.1813C>G		.	.	.	.	.	.	.	.	.	.	C	12.96	2.095313	0.36952	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.41400	2.14;1.6;2.17;2.42;2.21;1.0	5.12	4.24	0.50183	.	0.417167	0.23072	N	0.052243	T	0.27933	0.0688	L	0.27053	0.805	0.24123	N	0.995796	B;B;B;B;B	0.09022	0.001;0.0;0.001;0.001;0.002	B;B;B;B;B	0.08055	0.001;0.002;0.002;0.002;0.003	T	0.14364	-1.0475	10	0.09843	T	0.71	-4.5056	13.1547	0.59509	0.1599:0.8401:0.0:0.0	.	451;553;605;605;605	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	E	605;451;553;605;605;200	ENSP00000399751:Q605E;ENSP00000394609:Q451E;ENSP00000394965:Q553E;ENSP00000334375:Q605E;ENSP00000393579:Q605E;ENSP00000439083:Q200E	ENSP00000334375:Q605E	Q	+	1	0	LRCH3	199077427	1.000000	0.71417	0.873000	0.34254	0.958000	0.62258	2.493000	0.45320	1.170000	0.42753	-0.276000	0.10085	CAG		0.433	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1		NM_032773		11	83	0	0	0	0.00245	0	11	83		
ZNF721	170960	broad.mit.edu	37	4	435805	435805	+	Silent	SNP	C	C	T	rs186714659	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:435805C>T	ENST00000338977.5	-	2	2463	c.2415G>A	c.(2413-2415)gcG>gcA	p.A805A	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.A817A			Q8TF20	ZN721_HUMAN	zinc finger protein 721	805					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A817A(1)|p.A587A(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AACTAGTAAACGCTTTACCAC	0.393													C|||	17	0.00339457	0.0106	0.0043	5008	,	,		21389	0.0		0.0	False		,,,				2504	0.0					uc003gag.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(2449-2451)GCG>GCA		zinc finger protein 721		C		82,4110		3,76,2017	76.0	83.0	80.0		2451	-1.0	0.0	4		80	2,8468		0,2,4233	no	coding-synonymous	ZNF721	NM_133474.2		3,78,6250	TT,TC,CC		0.0236,1.9561,0.6634		817/924	435805	84,12578	2096	4235	6331	SO:0001819	synonymous_variant	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:435805C>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2415G>A	4.37:g.435805C>T						ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.A849A|ZNF721_uc010ibe.2_Silent_p.A805A	p.A817A	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	3142	-			817					Q69YG7	Silent	SNP	ENST00000338977.5	37	c.2451G>A																																																																																					0.393	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1		NM_133474		12	44	0	0	0	0.00245	0	12	44		
UVSSA	57654	broad.mit.edu	37	4	1347183	1347183	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:1347183G>A	ENST00000389851.4	+	5	1363	c.916G>A	c.(916-918)Gat>Aat	p.D306N	UVSSA_ENST00000507531.1_Missense_Mutation_p.D306N|UVSSA_ENST00000511216.1_Missense_Mutation_p.D306N	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	306					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)	p.D306N(1)									GTACACGCTGGATGTGGAGCT	0.667																																						uc003gde.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(916-918)GAT>AAT		hypothetical protein LOC57654							11.0	12.0	12.0					4																	1347183		2156	4184	6340	SO:0001583	missense	57654							g.chr4:1347183G>A	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.916G>A	4.37:g.1347183G>A	ENSP00000374501:p.Asp306Asn						p.D306N	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0138)		5	1363	+			306					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	ENST00000389851.4	37	c.916G>A	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	G	3.124	-0.179953	0.06380	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	T;T;T	0.30448	1.53;1.53;1.53	4.66	1.27	0.21489	.	0.524727	0.23549	N	0.046988	T	0.19005	0.0456	L	0.39245	1.2	0.09310	N	0.999999	B	0.16166	0.016	B	0.18871	0.023	T	0.16837	-1.0389	10	0.21014	T	0.42	.	4.3654	0.11222	0.3735:0.1738:0.4527:0.0	.	306	Q2YD98	K1530_HUMAN	N	306	ENSP00000425130:D306N;ENSP00000374501:D306N;ENSP00000421741:D306N	ENSP00000374501:D306N	D	+	1	0	KIAA1530	1337183	0.265000	0.24102	0.385000	0.26158	0.064000	0.16182	1.366000	0.34193	0.357000	0.24183	-0.258000	0.10820	GAT		0.667	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1		NM_020894		4	5	0	0	0	0.009096	0	4	5		
MSX1	4487	broad.mit.edu	37	4	4864675	4864675	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:4864675G>C	ENST00000382723.4	+	2	951	c.717G>C	c.(715-717)aaG>aaC	p.K239N	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	239					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.K239N(1)		endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AGAAGCTGAAGATGGCCGCCA	0.657																																						uc003gif.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(715-717)AAG>AAC		msh homeobox 1							31.0	26.0	27.0					4																	4864675		2199	4295	6494	SO:0001583	missense	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864675G>C	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.717G>C	4.37:g.4864675G>C	ENSP00000372170:p.Lys239Asn						p.K239N	NM_002448	NP_002439	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	952	+			233					A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	ENST00000382723.4	37	c.717G>C	CCDS3378.2	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929582	0.73327	.	.	ENSG00000163132	ENST00000382723	D	0.90261	-2.64	4.7	4.7	0.59300	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94719	0.8296	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94792	0.7963	10	0.87932	D	0	-6.3412	9.955	0.41661	0.1599:0.0:0.8401:0.0	.	233	P28360	MSX1_HUMAN	N	239	ENSP00000372170:K239N	ENSP00000372170:K239N	K	+	3	2	MSX1	4915576	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.763000	0.62257	2.309000	0.77851	0.462000	0.41574	AAG		0.657	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3				7	26	0	0	0	0.004482	0	7	26		
SEL1L3	23231	broad.mit.edu	37	4	25789920	25789920	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:25789920C>G	ENST00000399878.3	-	13	2265	c.2143G>C	c.(2143-2145)Gag>Cag	p.E715Q	SEL1L3_ENST00000502949.1_Missense_Mutation_p.E562Q|SEL1L3_ENST00000264868.5_Missense_Mutation_p.E680Q	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	715						integral component of membrane (GO:0016021)		p.E715Q(1)|p.E562Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGTACCACTCAATTGCTGCT	0.468																																						uc003gru.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2143-2145)GAG>CAG		sel-1 suppressor of lin-12-like 3							130.0	129.0	129.0					4																	25789920		1974	4144	6118	SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25789920C>G	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2143G>C	4.37:g.25789920C>G	ENSP00000382767:p.Glu715Gln					SEL1L3_uc003grv.2_Missense_Mutation_p.E122Q	p.E715Q	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			13	2295	-			715			Sel1-like 3.		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	c.2143G>C	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615965	0.66672	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.54279	0.58;0.58;0.58	5.5	5.5	0.81552	Tetratricopeptide-like helical (1);	0.159603	0.56097	D	0.000027	T	0.58352	0.2116	N	0.14661	0.345	0.39696	D	0.971119	D;D	0.71674	0.975;0.998	P;D	0.70716	0.819;0.97	T	0.63726	-0.6572	10	0.46703	T	0.11	-24.3123	19.4128	0.94681	0.0:1.0:0.0:0.0	.	122;715	B4DTH5;Q68CR1	.;SE1L3_HUMAN	Q	715;680;562	ENSP00000382767:E715Q;ENSP00000264868:E680Q;ENSP00000425438:E562Q	ENSP00000264868:E680Q	E	-	1	0	SEL1L3	25399018	1.000000	0.71417	0.985000	0.45067	0.906000	0.53458	4.047000	0.57383	2.581000	0.87130	0.563000	0.77884	GAG		0.468	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1		NM_015187		15	87	0	0	0	0.003163	0	15	87		
TLR10	81793	broad.mit.edu	37	4	38776503	38776503	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:38776503G>C	ENST00000308973.4	-	4	1314	c.709C>G	c.(709-711)Ctt>Gtt	p.L237V	TLR10_ENST00000361424.2_Missense_Mutation_p.L237V|TLR10_ENST00000508334.1_Missense_Mutation_p.L237V|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.L237V	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	237					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.L237V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCTAAACTAAGATTTCGTTGC	0.328																																						uc003gti.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|breast(1)	2						c.(709-711)CTT>GTT		toll-like receptor 10 precursor							63.0	61.0	62.0					4																	38776503		2203	4300	6503	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776503G>C	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.709C>G	4.37:g.38776503G>C	ENSP00000308925:p.Leu237Val					TLR10_uc003gtj.2_Missense_Mutation_p.L237V|TLR10_uc003gtk.2_Missense_Mutation_p.L237V	p.L237V	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	1088	-			237			Extracellular (Potential).		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.709C>G	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.892874	0.00003	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	4.91	2.24	0.28232	.	1.266340	0.05871	N	0.624698	T	0.78528	0.4297	L	0.51422	1.61	0.09310	N	1	B	0.19935	0.04	B	0.23275	0.045	T	0.57528	-0.7796	10	0.27082	T	0.32	.	7.2264	0.26018	0.1393:0.0:0.6156:0.2451	.	237	Q9BXR5	TLR10_HUMAN	V	237	ENSP00000308925:L237V;ENSP00000421483:L237V;ENSP00000354459:L237V;ENSP00000424923:L237V	ENSP00000308925:L237V	L	-	1	0	TLR10	38452898	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.637000	0.24659	-0.076000	0.12775	-0.808000	0.03180	CTT		0.328	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1				14	24	0	0	0	0.003163	0	14	24		
RFC1	5981	broad.mit.edu	37	4	39308303	39308303	+	Missense_Mutation	SNP	G	G	A	rs55727832	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:39308303G>A	ENST00000381897.1	-	14	2040	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	RFC1_ENST00000349703.2_Missense_Mutation_p.S635F	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	636					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.S636F(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATCTTTGCCGGAAAATTTACC	0.458													G|||	10	0.00199681	0.0	0.0	5008	,	,		18628	0.001		0.0	False		,,,				2504	0.0092				Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1906-1908)TCC>TTC		replication factor C large subunit							79.0	79.0	79.0					4																	39308303		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39308303G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1907C>T	4.37:g.39308303G>A	ENSP00000371321:p.Ser636Phe					RFC1_uc003gtx.1_Missense_Mutation_p.S635F	p.S636F	NM_002913	NP_002904	P35251	RFC1_HUMAN			14	2041	-			636					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.1907C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492958	0.64074	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.15256	2.64;2.44	5.91	4.1	0.47936	.	0.187820	0.45361	D	0.000370	T	0.10121	0.0248	N	0.17082	0.46	0.30795	N	0.740464	B;B	0.25272	0.043;0.122	B;B	0.26614	0.032;0.071	T	0.04053	-1.0981	10	0.36615	T	0.2	-0.5561	8.554	0.33469	0.0903:0.3157:0.594:0.0	rs55727832	636;635	P35251;P35251-2	RFC1_HUMAN;.	F	636;635	ENSP00000371321:S636F;ENSP00000261424:S635F	ENSP00000261424:S635F	S	-	2	0	RFC1	38984698	1.000000	0.71417	0.668000	0.29813	0.954000	0.61252	5.219000	0.65262	2.796000	0.96246	0.655000	0.94253	TCC		0.458	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1		NM_002913		9	25	0	0	0	0.004482	0	9	25		
CXCL13	10563	broad.mit.edu	37	4	78527049	78527049	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:78527049C>T	ENST00000286758.4	+	2	108	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	10					activation of Rap GTPase activity (GO:0032861)|B cell chemotaxis (GO:0035754)|B cell chemotaxis across high endothelial venule (GO:0035769)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|chronic inflammatory response (GO:0002544)|defense response to bacterium (GO:0042742)|endothelial cell chemotaxis to fibroblast growth factor (GO:0035768)|germinal center formation (GO:0002467)|immune response (GO:0006955)|lymph node development (GO:0048535)|lymphocyte chemotaxis across high endothelial venule (GO:0002518)|negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of integrin activation (GO:0033625)|positive regulation of T cell chemotaxis (GO:0010820)|regulation of angiogenesis (GO:0045765)|regulation of humoral immune response (GO:0002920)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR10 chemokine receptor binding (GO:0031735)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|CXCR5 chemokine receptor binding (GO:0031724)|fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|receptor agonist activity (GO:0048018)	p.L10L(1)		large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						CTCTGCTTCTCATGCTGCTGG	0.443																																						uc003hkr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(28-30)CTC>CTT		chemokine (C-X-C motif) ligand 13 (B-cell							103.0	98.0	99.0					4																	78527049		2203	4300	6503	SO:0001819	synonymous_variant	10563				activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	g.chr4:78527049C>T	AJ002211	CCDS3582.1	4q21	2013-02-25	2008-08-29	2002-08-23	ENSG00000156234	ENSG00000156234		"""Endogenous ligands"""	10639	protein-coding gene	gene with protein product	"""B-cell chemoattractant"""	605149	"""small inducible cytokine B subfamily (Cys-X-Cys motif), member 13 (B-cell chemoattractant)"""	SCYB13		9463416, 9486651	Standard	NM_006419		Approved	BLC, BCA-1, BLR1L, ANGIE, ANGIE2	uc003hkr.3	O43927	OTTHUMG00000130201	ENST00000286758.4:c.30C>T	4.37:g.78527049C>T							p.L10L	NM_006419	NP_006410	O43927	CXL13_HUMAN			2	108	+			10						Silent	SNP	ENST00000286758.4	37	c.30C>T	CCDS3582.1																																																																																				0.443	CXCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252519.1				8	48	0	0	0	0.004482	0	8	48		
WDFY3	23001	broad.mit.edu	37	4	85662946	85662946	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:85662946G>C	ENST00000295888.4	-	38	6609	c.6202C>G	c.(6202-6204)Ctt>Gtt	p.L2068V	WDFY3_ENST00000322366.6_Missense_Mutation_p.L2068V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2068					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L2068V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAATCTATAAGAAGTTTAGAT	0.368																																						uc003hpd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(6202-6204)CTT>GTT		WD repeat and FYVE domain containing 3 isoform							82.0	88.0	86.0					4																	85662946		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85662946G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6202C>G	4.37:g.85662946G>C	ENSP00000295888:p.Leu2068Val						p.L2068V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	38	6610	-		Hepatocellular(203;0.114)	2068					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6202C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	3.313	-0.140456	0.06669	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62639	0.01;0.02	5.64	5.64	0.86602	.	0.062820	0.64402	D	0.000006	T	0.21841	0.0526	N	0.00308	-1.67	0.50313	D	0.99986	B	0.02656	0.0	B	0.04013	0.001	T	0.44907	-0.9297	10	0.02654	T	1	.	9.5084	0.39062	0.0743:0.1441:0.7816:0.0	.	2068	Q8IZQ1	WDFY3_HUMAN	V	2068	ENSP00000318466:L2068V;ENSP00000295888:L2068V	ENSP00000295888:L2068V	L	-	1	0	WDFY3	85881970	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.904000	0.63279	2.660000	0.90430	0.655000	0.94253	CTT		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		11	66	0	0	0	0.008291	0	11	66		
ARHGAP24	83478	broad.mit.edu	37	4	86893235	86893235	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:86893235C>T	ENST00000395184.1	+	6	1112	c.646C>T	c.(646-648)Cga>Tga	p.R216*	ARHGAP24_ENST00000503995.1_Nonsense_Mutation_p.R216*|ARHGAP24_ENST00000395183.2_Nonsense_Mutation_p.R121*|ARHGAP24_ENST00000264343.4_Nonsense_Mutation_p.R123*	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	216	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)	p.R216*(1)|p.R123*(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GCTGTACCTCCGAGAACTTCC	0.418																																						uc003hpk.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(646-648)CGA>TGA		Rho GTPase activating protein 24 isoform 1							115.0	105.0	108.0					4																	86893235		2203	4300	6503	SO:0001587	stop_gained	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86893235C>T	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.646C>T	4.37:g.86893235C>T	ENSP00000378611:p.Arg216*					ARHGAP24_uc003hpj.2_Nonsense_Mutation_p.R216*|ARHGAP24_uc003hpl.2_Nonsense_Mutation_p.R121*|ARHGAP24_uc010ikf.2_Nonsense_Mutation_p.R131*|ARHGAP24_uc003hpm.2_Nonsense_Mutation_p.R123*	p.R216*	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	6	1095	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	216			Rho-GAP.		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Nonsense_Mutation	SNP	ENST00000395184.1	37	c.646C>T	CCDS34025.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838145	0.91117	.	.	ENSG00000138639	ENST00000395184;ENST00000503995;ENST00000395183;ENST00000509300;ENST00000514229;ENST00000264343	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3778	0.60750	0.2637:0.7362:0.0:0.0	.	.	.	.	X	216;216;121;90;131;123	.	ENSP00000264343:R123X	R	+	1	2	ARHGAP24	87112259	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.704000	0.47118	2.562000	0.86427	0.585000	0.79938	CGA		0.418	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2		NM_031305		11	43	0	0	0	0.001368	0	11	43		
SMARCAD1	56916	broad.mit.edu	37	4	95155124	95155124	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:95155124G>C	ENST00000354268.4	+	4	461	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E130Q			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	130					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E130Q(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATCTGAAGATGAAGAGTCCCA	0.338																																						uc003htc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|breast(1)	4						c.(388-390)GAA>CAA		SWI/SNF-related, matrix-associated							62.0	63.0	62.0					4																	95155124		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95155124G>C	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.388G>C	4.37:g.95155124G>C	ENSP00000346217:p.Glu130Gln					SMARCAD1_uc003htb.3_Missense_Mutation_p.E130Q|SMARCAD1_uc003htd.3_Missense_Mutation_p.E130Q|SMARCAD1_uc010ila.2_5'UTR	p.E130Q	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	4	643	+			130					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.388G>C	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410222	0.62399	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.15487	2.42;2.42;2.42	5.81	5.81	0.92471	.	0.000000	0.39759	N	0.001269	T	0.23886	0.0578	N	0.14661	0.345	0.80722	D	1	D;D	0.61080	0.981;0.989	D;D	0.70487	0.932;0.969	T	0.06844	-1.0804	10	0.22706	T	0.39	-24.7901	15.5785	0.76414	0.0:0.0:1.0:0.0	.	130;130	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Q	130	ENSP00000351947:E130Q;ENSP00000415576:E130Q;ENSP00000346217:E130Q	ENSP00000346217:E130Q	E	+	1	0	SMARCAD1	95374147	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.715000	0.61909	2.736000	0.93811	0.655000	0.94253	GAA		0.338	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1		NM_020159		6	37	0	0	0	0.001168	0	6	37		
TRMT10A	93587	broad.mit.edu	37	4	100479303	100479303	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:100479303G>C	ENST00000273962.3	-	3	563	c.251C>G	c.(250-252)tCa>tGa	p.S84*	TRMT10A_ENST00000394877.3_Nonsense_Mutation_p.S84*|TRMT10A_ENST00000394876.2_Nonsense_Mutation_p.S84*	NM_152292.4	NP_689505.1	Q8TBZ6	TM10A_HUMAN	tRNA methyltransferase 10 homolog A (S. cerevisiae)	84					magnesium ion homeostasis (GO:0010960)	extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)	p.S84*(1)									ATGTCCATCTGAGTTTGGTTC	0.338																																						uc003huy.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(250-252)TCA>TGA		RNA (guanine-9-) methyltransferase domain							259.0	209.0	226.0					4																	100479303		2203	4300	6503	SO:0001587	stop_gained	93587						methyltransferase activity	g.chr4:100479303G>C	BC028373	CCDS3650.1	4q23	2012-06-28	2012-06-28	2012-06-28	ENSG00000145331	ENSG00000145331			28403	protein-coding gene	gene with protein product			"""RNA (guanine-9-) methyltransferase domain containing 2"""	RG9MTD2		12477932	Standard	NM_152292		Approved	MGC27034, TRM10	uc003hva.4	Q8TBZ6	OTTHUMG00000131025	ENST00000273962.3:c.251C>G	4.37:g.100479303G>C	ENSP00000273962:p.Ser84*					RG9MTD2_uc003huz.3_Nonsense_Mutation_p.S84*|RG9MTD2_uc003hva.3_Nonsense_Mutation_p.S84*	p.S84*	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)	3	564	-			84					B2R8X7|Q9Y2T9	Nonsense_Mutation	SNP	ENST00000273962.3	37	c.251C>G	CCDS3650.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218050	0.79352	.	.	ENSG00000145331	ENST00000394877;ENST00000273962;ENST00000394876;ENST00000455368;ENST00000514547	.	.	.	5.78	3.12	0.35913	.	0.966383	0.08556	N	0.928276	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-1.9039	2.7785	0.05354	0.2054:0.1174:0.5418:0.1355	.	.	.	.	X	84	.	ENSP00000273962:S84X	S	-	2	0	RG9MTD2	100698326	0.430000	0.25538	0.126000	0.21872	0.639000	0.38242	0.313000	0.19415	0.453000	0.26858	0.591000	0.81541	TCA		0.338	TRMT10A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253668.1		NM_152292		8	47	0	0	0	0.00308	0	8	47		
BANK1	55024	broad.mit.edu	37	4	102981490	102981490	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:102981490C>G	ENST00000322953.4	+	12	2366	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	BANK1_ENST00000504592.1_Missense_Mutation_p.L683V|BANK1_ENST00000444316.2_Missense_Mutation_p.L668V|BANK1_ENST00000508653.1_Missense_Mutation_p.L565V|BANK1_ENST00000428908.1_Missense_Mutation_p.L565V	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	698					B cell activation (GO:0042113)			p.L698V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGATGAAGCTCTGGAGAAATT	0.453																																						uc003hvy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2092-2094)CTG>GTG		B-cell scaffold protein with ankyrin repeats 1							95.0	100.0	98.0					4																	102981490		2203	4300	6503	SO:0001583	missense	55024				B cell activation			g.chr4:102981490C>G	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2092C>G	4.37:g.102981490C>G	ENSP00000320509:p.Leu698Val					BANK1_uc003hvx.3_Missense_Mutation_p.L683V|BANK1_uc010ill.2_Missense_Mutation_p.L565V|BANK1_uc003hvz.3_Missense_Mutation_p.L668V	p.L698V	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	12	2366	+		Hepatocellular(203;0.217)	698					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	ENST00000322953.4	37	c.2092C>G	CCDS34038.1	.	.	.	.	.	.	.	.	.	.	C	9.664	1.144860	0.21288	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.14391	3.24;3.2;2.51;2.51;3.24	5.59	1.87	0.25490	.	0.091629	0.45361	D	0.000369	T	0.14313	0.0346	N	0.25890	0.77	0.20563	N	0.999889	B;D;D	0.55605	0.27;0.972;0.972	P;P;P	0.62435	0.481;0.902;0.902	T	0.08330	-1.0727	10	0.02654	T	1	.	8.3144	0.32091	0.0:0.6665:0.0:0.3335	.	565;698;683	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	V	683;698;565;565;668	ENSP00000421443:L683V;ENSP00000320509:L698V;ENSP00000412748:L565V;ENSP00000422314:L565V;ENSP00000388817:L668V	ENSP00000320509:L698V	L	+	1	2	BANK1	103200513	0.119000	0.22226	0.702000	0.30337	0.990000	0.78478	0.227000	0.17795	0.306000	0.22856	0.561000	0.74099	CTG		0.453	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1		NM_017935		4	63	0	0	0	0.000602	0	4	63		
BDH2	56898	broad.mit.edu	37	4	104013836	104013836	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:104013836G>A	ENST00000296424.4	-	4	289	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	57					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.L57F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GTGACATCAAGGACACGAGTT	0.338																																						uc003hwz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(169-171)CTT>TTT		3-hydroxybutyrate dehydrogenase, type 2							76.0	77.0	76.0					4																	104013836		2203	4300	6503	SO:0001583	missense	56898				fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:104013836G>A	AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.169C>T	4.37:g.104013836G>A	ENSP00000296424:p.Leu57Phe					BDH2_uc003hxa.2_RNA	p.L57F	NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)	4	274	-		Hepatocellular(203;0.217)	57					A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	c.169C>T	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	G	5.227	0.227292	0.09916	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;D;D	0.88046	1.82;-2.33;-2.33	4.83	3.1	0.35709	NAD(P)-binding domain (1);	0.128387	0.48286	D	0.000183	D	0.87553	0.6206	L	0.33245	0.995	0.39854	D	0.973289	D	0.71674	0.998	D	0.72338	0.977	D	0.86363	0.1718	10	0.87932	D	0	.	7.1024	0.25344	0.3504:0.0:0.6496:0.0	.	57	Q9BUT1	BDH2_HUMAN	F	57	ENSP00000296424:L57F;ENSP00000427442:L57F;ENSP00000422891:L57F	ENSP00000296424:L57F	L	-	1	0	BDH2	104233285	0.999000	0.42202	0.183000	0.23137	0.366000	0.29705	2.221000	0.42917	0.575000	0.29434	-0.258000	0.10820	CTT		0.338	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2		NM_020139		4	9	0	0	0	0.009096	0	4	9		
INTS12	57117	broad.mit.edu	37	4	106614616	106614616	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:106614616C>G	ENST00000451321.2	-	4	816	c.337G>C	c.(337-339)Gat>Cat	p.D113H	INTS12_ENST00000340139.5_Missense_Mutation_p.D113H|INTS12_ENST00000394735.1_Missense_Mutation_p.D113H	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	113					snRNA processing (GO:0016180)	integrator complex (GO:0032039)	zinc ion binding (GO:0008270)	p.D113H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTGGAATATCAACTCCTTCA	0.373																																						uc003hxw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(337-339)GAT>CAT		integrator complex subunit 12							192.0	197.0	195.0					4																	106614616		2203	4300	6503	SO:0001583	missense	57117				snRNA processing	integrator complex	protein binding|zinc ion binding	g.chr4:106614616C>G		CCDS3671.1	4q24	2013-01-28	2006-03-15	2006-03-15	ENSG00000138785	ENSG00000138785		"""Zinc fingers, PHD-type"""	25067	protein-coding gene	gene with protein product	"""hypothetical nuclear factor SBBI22"""	611355	"""PHD finger protein 22"""	PHF22		16239144	Standard	NM_020395		Approved	SBBI22, INT12	uc010ilr.3	Q96CB8	OTTHUMG00000131215	ENST00000451321.2:c.337G>C	4.37:g.106614616C>G	ENSP00000415433:p.Asp113His					INTS12_uc010ilr.2_Missense_Mutation_p.D113H	p.D113H	NM_020395	NP_065128	Q96CB8	INT12_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)	5	595	-			113					B2RC48|Q3B6Z3|Q9HD71	Missense_Mutation	SNP	ENST00000451321.2	37	c.337G>C	CCDS3671.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868328	0.91587	.	.	ENSG00000138785	ENST00000394735;ENST00000340139;ENST00000451321;ENST00000503746;ENST00000420368	T;T;T	0.50813	0.73;0.73;0.73	5.93	5.93	0.95920	.	0.045098	0.85682	D	0.000000	T	0.57110	0.2031	L	0.54323	1.7	0.80722	D	1	D	0.53151	0.958	P	0.50791	0.65	T	0.51616	-0.8683	10	0.39692	T	0.17	-22.3221	20.3495	0.98807	0.0:1.0:0.0:0.0	.	113	Q96CB8	INT12_HUMAN	H	113	ENSP00000378221:D113H;ENSP00000340737:D113H;ENSP00000415433:D113H	ENSP00000340737:D113H	D	-	1	0	INTS12	106834065	1.000000	0.71417	0.080000	0.20451	0.937000	0.57800	7.008000	0.76341	2.814000	0.96858	0.591000	0.81541	GAT		0.373	INTS12-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318624.1		NM_020395		36	114	0	0	0	0.003271	0	36	114		
EGF	1950	broad.mit.edu	37	4	110882118	110882118	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:110882118C>T	ENST00000265171.5	+	7	1607	c.1162C>T	c.(1162-1164)Ctg>Ttg	p.L388L	EGF_ENST00000503392.1_Silent_p.L388L|EGF_ENST00000509793.1_Silent_p.L346L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	388	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)	p.L388L(1)		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)	AGGATTTGTTCTGCTTCCTGA	0.388																																						uc003hzy.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1162-1164)CTG>TTG		epidermal growth factor precursor	Sulindac(DB00605)						254.0	224.0	234.0					4																	110882118		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.chr4:110882118C>T	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.1162C>T	4.37:g.110882118C>T						EGF_uc011cfu.1_Silent_p.L346L|EGF_uc011cfv.1_Silent_p.L388L	p.L388L	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	7	1614	+		Hepatocellular(203;0.0893)	388			EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.1162C>T	CCDS3689.1																																																																																				0.388	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1				12	54	0	0	0	0.001855	0	12	54		
ALPK1	80216	broad.mit.edu	37	4	113362208	113362208	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:113362208G>A	ENST00000458497.1	+	15	3953	c.3674G>A	c.(3673-3675)tGt>tAt	p.C1225Y	ALPK1_ENST00000504176.2_Missense_Mutation_p.C1147Y|ALPK1_ENST00000177648.9_Missense_Mutation_p.C1225Y	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1225	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.C1225Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CATGTGGAATGTAATGAAATC	0.383																																						uc003iap.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)	5						c.(3673-3675)TGT>TAT		alpha-kinase 1							186.0	187.0	187.0					4																	113362208		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113362208G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3674G>A	4.37:g.113362208G>A	ENSP00000398048:p.Cys1225Tyr					ALPK1_uc003ian.3_Missense_Mutation_p.C1225Y|ALPK1_uc011cfx.1_Missense_Mutation_p.C1147Y|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.C1053Y	p.C1225Y	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	15	3953	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1225			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3674G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653615	0.88056	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.22743	1.94;1.94;1.94	5.83	5.83	0.93111	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.64837	-0.6313	10	0.87932	D	0	-10.8116	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1147;1147;1225	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	Y	1225;1225;1147	ENSP00000398048:C1225Y;ENSP00000177648:C1225Y;ENSP00000426044:C1147Y	ENSP00000177648:C1225Y	C	+	2	0	ALPK1	113581657	1.000000	0.71417	0.907000	0.35723	0.956000	0.61745	8.815000	0.91973	2.775000	0.95449	0.650000	0.86243	TGT		0.383	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2		NM_025144		16	132	0	0	0	0.00499	0	16	132		
PRDM5	11107	broad.mit.edu	37	4	121738027	121738027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:121738027G>A	ENST00000264808.3	-	6	943	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	235					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q235*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAGAGCACTGAAAACTTCGC	0.378																																						uc003idn.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)|pancreas(1)	2						c.(703-705)CAG>TAG		PR domain containing 5							181.0	186.0	185.0					4																	121738027		2203	4300	6503	SO:0001587	stop_gained	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121738027G>A	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.703C>T	4.37:g.121738027G>A	ENSP00000264808:p.Gln235*					PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron	p.Q235*	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			6	953	-			235			C2H2-type 3; atypical.		Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	ENST00000264808.3	37	c.703C>T	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148423	0.94603	.	.	ENSG00000138738	ENST00000264808	.	.	.	5.85	5.85	0.93711	.	0.054985	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-33.3695	20.1731	0.98165	0.0:0.0:1.0:0.0	.	.	.	.	X	235	.	ENSP00000264808:Q235X	Q	-	1	0	PRDM5	121957477	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.439000	0.73430	2.768000	0.95171	0.655000	0.94253	CAG		0.378	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2				31	165	0	0	0	0.004289	0	31	165		
PCDH10	57575	broad.mit.edu	37	4	134072563	134072563	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:134072563G>A	ENST00000264360.5	+	1	2094	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R423Q(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCTGGACCGAGAGGCGGGG	0.592																																						uc003iha.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1267-1269)CGA>CAA		protocadherin 10 isoform 1 precursor							145.0	160.0	155.0					4																	134072563		2202	4299	6501	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072563G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1268G>A	4.37:g.134072563G>A	ENSP00000264360:p.Arg423Gln					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R423Q	p.R423Q	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2094	+			423			Cadherin 4.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1268G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688328	0.88639	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.01725	4.67	4.68	4.68	0.58851	Cadherin (4);Cadherin-like (1);	0.000000	0.37348	N	0.002138	T	0.20740	0.0499	H	0.98256	4.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.43653	-0.9378	10	0.87932	D	0	.	17.3997	0.87456	0.0:0.0:1.0:0.0	.	423;423	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Q	423	ENSP00000264360:R423Q	ENSP00000264360:R423Q	R	+	2	0	PCDH10	134292013	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.633000	0.98432	2.423000	0.82170	0.561000	0.74099	CGA		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961		34	155	0	0	0	0.006999	0	34	155		
FGA	2243	broad.mit.edu	37	4	155507837	155507837	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:155507837C>G	ENST00000302053.3	-	5	822	c.744G>C	c.(742-744)tgG>tgC	p.W248C	FGA_ENST00000403106.3_Missense_Mutation_p.W248C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	248					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.W248C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTAATGCCTTCCACTCTGGGG	0.473																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(742-744)TGG>TGC		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						130.0	137.0	135.0					4																	155507837		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507837C>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.744G>C	4.37:g.155507837C>G	ENSP00000306361:p.Trp248Cys					FGA_uc003ioe.1_Missense_Mutation_p.W248C|FGA_uc003iof.1_Intron	p.W248C	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	802	-	all_hematologic(180;0.215)	Renal(120;0.0458)	248			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.744G>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610670	0.14066	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.84730	-1.89;-1.89	5.43	4.59	0.56863	.	5.151730	0.00166	N	0.000000	D	0.92289	0.7554	M	0.79258	2.445	0.09310	N	0.999991	D;D	0.76494	0.999;0.998	D;P	0.63192	0.912;0.818	T	0.71576	-0.4551	10	0.87932	D	0	.	9.0169	0.36175	0.0:0.7776:0.0:0.2224	.	248;248	P02671-2;P02671	.;FIBA_HUMAN	C	248	ENSP00000306361:W248C;ENSP00000385981:W248C	ENSP00000306361:W248C	W	-	3	0	FGA	155727287	0.000000	0.05858	0.268000	0.24571	0.070000	0.16714	0.672000	0.25187	1.428000	0.47296	0.655000	0.94253	TGG		0.473	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508		10	77	0	0	0	0.006214	0	10	77		
DDX60	55601	broad.mit.edu	37	4	169208323	169208323	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:169208323C>T	ENST00000393743.3	-	10	1506	c.1215G>A	c.(1213-1215)atG>atA	p.M405I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	405					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.M405I(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATAATCTTTCATAATGGTAT	0.353																																						uc003irp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1213-1215)ATG>ATA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							75.0	72.0	73.0					4																	169208323		2203	4298	6501	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169208323C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.1215G>A	4.37:g.169208323C>T	ENSP00000377344:p.Met405Ile						p.M405I	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	10	1507	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	405					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.1215G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	7.777	0.708720	0.15239	.	.	ENSG00000137628	ENST00000393743	T	0.16897	2.31	4.72	2.96	0.34315	.	0.852017	0.10290	N	0.692441	T	0.13114	0.0318	L	0.51422	1.61	0.09310	N	1	B	0.33919	0.432	B	0.21546	0.035	T	0.21621	-1.0240	10	0.38643	T	0.18	.	5.2872	0.15708	0.1652:0.6523:0.0:0.1825	.	405	Q8IY21	DDX60_HUMAN	I	405	ENSP00000377344:M405I	ENSP00000377344:M405I	M	-	3	0	DDX60	169444898	0.000000	0.05858	0.672000	0.29872	0.513000	0.34164	-0.087000	0.11215	0.962000	0.38057	0.467000	0.42956	ATG		0.353	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1		NM_017631		5	28	0	0	0	0.001168	0	5	28		
TENM3	55714	broad.mit.edu	37	4	183664474	183664474	+	Silent	SNP	G	G	A	rs370690717		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:183664474G>A	ENST00000511685.1	+	19	3654	c.3531G>A	c.(3529-3531)gcG>gcA	p.A1177A	TENM3_ENST00000406950.2_Silent_p.A1177A|TENM3_ENST00000502950.1_3'UTR			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1177					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A1177A(1)									CCCCAGTGGCGCTAGCTTGTG	0.512																																						uc003ivd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(3529-3531)GCG>GCA		odz, odd Oz/ten-m homolog 3		G		1,4071		0,1,2035	93.0	98.0	96.0		3531	-11.0	0.0	4		96	0,8396		0,0,4198	no	coding-synonymous	ODZ3	NM_001080477.1		0,1,6233	AA,AG,GG		0.0,0.0246,0.0080		1177/2700	183664474	1,12467	2036	4198	6234	SO:0001819	synonymous_variant	55714				signal transduction	integral to membrane		g.chr4:183664474G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3531G>A	4.37:g.183664474G>A						ODZ3_uc003ive.1_Silent_p.A583A	p.A1177A	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	18	3568	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1177			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.3531G>A	CCDS47165.1																																																																																				0.512	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1				10	44	0	0	0	0.008291	0	10	44		
TRAPPC11	60684	broad.mit.edu	37	4	184614842	184614842	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr4:184614842G>A	ENST00000334690.6	+	21	2540	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	TRAPPC11_ENST00000512476.1_Missense_Mutation_p.E386K|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E780K	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	780					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.E780K(1)									TCAGTCCCATGAAAAGACCCA	0.393																																						uc003ivx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2338-2340)GAA>AAA		hypothetical protein LOC60684 isoform a							126.0	124.0	125.0					4																	184614842		2203	4300	6503	SO:0001583	missense	60684							g.chr4:184614842G>A		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.2338G>A	4.37:g.184614842G>A	ENSP00000335371:p.Glu780Lys					C4orf41_uc003ivw.2_Missense_Mutation_p.E780K|C4orf41_uc010isc.2_Missense_Mutation_p.E124K|C4orf41_uc003ivy.2_Missense_Mutation_p.E386K	p.E780K	NM_021942	NP_068761	Q7Z392	CD041_HUMAN		all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171)	21	2514	+		all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202)	780					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	c.2338G>A	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924394	0.92319	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.72326	0.3446	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.83275	0.996;0.996;0.993;0.991	T	0.72443	-0.4292	9	0.52906	T	0.07	.	19.4356	0.94792	0.0:0.0:1.0:0.0	.	511;386;780;780	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	K	780;780;780;386	.	ENSP00000335371:E780K	E	+	1	0	C4orf41	184851836	1.000000	0.71417	0.633000	0.29310	0.648000	0.38561	9.657000	0.98554	2.826000	0.97356	0.655000	0.94253	GAA		0.393	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2		NM_021942		37	89	0	0	0	0.004878	0	37	89		
SLC12A7	10723	broad.mit.edu	37	5	1076837	1076837	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:1076837G>A	ENST00000264930.5	-	13	1763	c.1720C>T	c.(1720-1722)Ctg>Ttg	p.L574L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	574					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.L574L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGCTGTCCAGAGAGGCGATG	0.667																																						uc003jbu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(1720-1722)CTG>TTG		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						61.0	55.0	57.0					5																	1076837		2201	4299	6500	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1076837G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1720C>T	5.37:g.1076837G>A							p.L574L	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		13	1786	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		574			Helical; (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1720C>T	CCDS34129.1																																																																																				0.667	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		NM_006598		6	21	0	0	0	0.001168	0	6	21		
ADAMTS16	170690	broad.mit.edu	37	5	5235258	5235258	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:5235258G>C	ENST00000274181.7	+	13	2120	c.1982G>C	c.(1981-1983)aGa>aCa	p.R661T	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	661	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R661T(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGACGATTCAGAGGGCGGCAC	0.483																																						uc003jdl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1981-1983)AGA>ACA		ADAM metallopeptidase with thrombospondin type 1							70.0	74.0	73.0					5																	5235258		1949	4140	6089	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5235258G>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1982G>C	5.37:g.5235258G>C	ENSP00000274181:p.Arg661Thr					ADAMTS16_uc003jdk.1_Missense_Mutation_p.R661T|ADAMTS16_uc010itk.1_RNA	p.R661T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			13	2120	+			661			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1982G>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125270	0.56721	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.06528	3.29	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.29882	0.0747	M	0.87038	2.855	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;D	0.80764	0.878;0.994	T	0.15983	-1.0418	10	0.59425	D	0.04	.	16.4968	0.84247	0.0:0.0:1.0:0.0	.	661;661	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	T	661	ENSP00000274181:R661T	ENSP00000274181:R661T	R	+	2	0	ADAMTS16	5288258	1.000000	0.71417	0.063000	0.19743	0.130000	0.20726	9.323000	0.96364	2.270000	0.75569	0.655000	0.94253	AGA		0.483	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		13	35	0	0	0	0.001855	0	13	35		
ICE1	23379	broad.mit.edu	37	5	5476188	5476188	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:5476188G>C	ENST00000296564.7	+	17	6738	c.6516G>C	c.(6514-6516)ctG>ctC	p.L2172L		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2172					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.L2172L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TACTGAGGCTGATTGGTAAGT	0.353																																						uc003jdm.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(6514-6516)CTG>CTC		hypothetical protein LOC23379							111.0	103.0	105.0					5																	5476188		1850	4099	5949	SO:0001819	synonymous_variant	23379							g.chr5:5476188G>C																												ENST00000296564.7:c.6516G>C	5.37:g.5476188G>C							p.L2172L	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			17	6738	+			2172					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	ENST00000296564.7	37	c.6516G>C	CCDS47187.1																																																																																				0.353	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1				3	10	0	0	0	0.004672	0	3	10		
TRIO	7204	broad.mit.edu	37	5	14472765	14472765	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:14472765G>A	ENST00000344204.4	+	39	6001	c.5977G>A	c.(5977-5979)Gag>Aag	p.E1993K	TRIO_ENST00000537187.1_Missense_Mutation_p.E1993K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1993	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1993K(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTATGTGGTTGAGGTGTGTAT	0.393																																						uc003jff.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(5977-5979)GAG>AAG		triple functional domain (PTPRF interacting)							232.0	197.0	209.0					5																	14472765		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14472765G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5977G>A	5.37:g.14472765G>A	ENSP00000339299:p.Glu1993Lys					TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.E1642K	p.E1993K	NM_007118	NP_009049	O75962	TRIO_HUMAN			39	5983	+	Lung NSC(4;0.000742)		1993			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.5977G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	35	5.428156	0.96131	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	T;T	0.69435	-0.4;-0.4	5.38	5.38	0.77491	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	L	0.47716	1.5	0.80722	D	1	P;D	0.59357	0.874;0.985	P;D	0.78314	0.823;0.991	T	0.75028	-0.3462	10	0.35671	T	0.21	.	19.1549	0.93506	0.0:0.0:1.0:0.0	.	1993;1993	O75962-5;O75962	.;TRIO_HUMAN	K	1993;1993;1680;73	ENSP00000339299:E1993K;ENSP00000446348:E1993K	ENSP00000339299:E1993K	E	+	1	0	TRIO	14525765	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.529000	0.85273	0.655000	0.94253	GAG		0.393	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		15	62	0	0	0	0.00499	0	15	62		
RAD1	5810	broad.mit.edu	37	5	34913668	34913668	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:34913668C>T	ENST00000382038.2	-	3	1633	c.214G>A	c.(214-216)Gag>Aag	p.E72K	BRIX1_ENST00000336767.5_5'Flank|RAD1_ENST00000341754.4_Missense_Mutation_p.E72K	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 checkpoint DNA exonuclease	72					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|meiotic recombination checkpoint (GO:0051598)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|substantia nigra development (GO:0021762)	chromosome (GO:0005694)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|damaged DNA binding (GO:0003684)|exodeoxyribonuclease III activity (GO:0008853)	p.E72K(1)		endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACTTTAAACTCCTGAAATATT	0.284								Other conserved DNA damage response genes																														uc003jix.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(214-216)GAG>AAG	Other_conserved_DNA_damage_response_genes	RAD1 homolog							32.0	36.0	35.0					5																	34913668		2197	4289	6486	SO:0001583	missense	5810				DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding	g.chr5:34913668C>T	AF074717	CCDS3905.1	5p13	2014-08-08	2014-08-08		ENSG00000113456	ENSG00000113456	3.1.11.2		9806	protein-coding gene	gene with protein product	"""exonuclease homolog RAD1"", ""checkpoint control protein HRAD1"", ""cell cycle checkpoint protein Hrad1"", ""Rad1-like DNA damage checkpoint"", ""DNA repair exonuclease REC1"""	603153	"""RAD1 (S. pombe) homolog"", ""RAD1 homolog (S. pombe)"""			9716408, 9828137	Standard	NR_026591		Approved	HRAD1, REC1	uc003jix.3	O60671	OTTHUMG00000090783	ENST00000382038.2:c.214G>A	5.37:g.34913668C>T	ENSP00000371469:p.Glu72Lys					RAD1_uc003jiw.2_Intron|RAD1_uc003jiy.2_Missense_Mutation_p.E72K|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank	p.E72K	NM_002853	NP_002844	O60671	RAD1_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		3	543	-	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	72					O75572|O95304|Q1W161|Q5KSM0|Q5KSM1|Q9UEP1	Missense_Mutation	SNP	ENST00000382038.2	37	c.214G>A	CCDS3905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221479	0.95139	.	.	ENSG00000113456	ENST00000382038;ENST00000341754	T;T	0.19532	2.14;2.14	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	M	0.83692	2.655	0.80722	D	1	D	0.56035	0.974	P	0.54312	0.748	T	0.52533	-0.8563	10	0.72032	D	0.01	.	19.0202	0.92910	0.0:1.0:0.0:0.0	.	72	O60671	RAD1_HUMAN	K	72	ENSP00000371469:E72K;ENSP00000340879:E72K	ENSP00000340879:E72K	E	-	1	0	RAD1	34949425	1.000000	0.71417	0.993000	0.49108	0.761000	0.43186	6.963000	0.76055	2.557000	0.86248	0.655000	0.94253	GAG		0.284	RAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207567.1		NM_002853		12	32	0	0	0	0.001855	0	12	32		
NUP155	9631	broad.mit.edu	37	5	37371030	37371030	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:37371030G>A	ENST00000231498.3	-	1	253	c.50C>T	c.(49-51)gCa>gTa	p.A17V	NUP155_ENST00000381843.2_5'Flank|NUP155_ENST00000513532.1_Missense_Mutation_p.A17V	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	17					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.A17V(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCAGGGCTGCGGCAGATGT	0.557																																						uc003jku.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(49-51)GCA>GTA		nucleoporin 155kDa isoform 1							56.0	54.0	54.0					5																	37371030		2203	4300	6503	SO:0001583	missense	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37371030G>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.50C>T	5.37:g.37371030G>A	ENSP00000231498:p.Ala17Val					NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Missense_Mutation_p.A17V	p.A17V	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	168	-	all_lung(31;0.000137)		17					Q9UBE9|Q9UFL5	Missense_Mutation	SNP	ENST00000231498.3	37	c.50C>T	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143293	0.37825	.	.	ENSG00000113569	ENST00000231498;ENST00000513532	T;T	0.77750	-1.12;-1.12	4.15	3.27	0.37495	.	1.141620	0.06634	N	0.759725	T	0.67534	0.2903	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.0	T	0.51100	-0.8748	10	0.19590	T	0.45	.	6.9263	0.24416	0.1687:0.1458:0.6855:0.0	.	17;17	E9PF10;O75694	.;NU155_HUMAN	V	17	ENSP00000231498:A17V;ENSP00000422019:A17V	ENSP00000231498:A17V	A	-	2	0	NUP155	37406787	0.984000	0.35163	0.051000	0.19133	0.467000	0.32768	6.761000	0.74945	0.967000	0.38186	0.558000	0.71614	GCA		0.557	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2		NM_153485, NM_004298		11	55	0	0	0	0.010729	0	11	55		
NUP155	9631	broad.mit.edu	37	5	37371140	37371140	+	De_novo_Start_InFrame	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:37371140G>C	ENST00000231498.3	-	0	143				NUP155_ENST00000381843.2_5'Flank|NUP155_ENST00000513532.1_De_novo_Start_InFrame	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa						atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACAAGAAAAGATCCAAGAAG	0.567																																						uc003jku.1		NaN																	0				ovary(1)	1						c.(-62--58)ATCTT>ATGTT		nucleoporin 155kDa isoform 1																																						9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37371140G>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803		5.37:g.37371140G>C						NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Translation_Start_Site		NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	58	-	all_lung(31;0.000137)							Q9UBE9|Q9UFL5	Translation_Start_Site	SNP	ENST00000231498.3	37	c.-60C>G	CCDS3921.1																																																																																				0.567	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2		NM_153485, NM_004298		5	16	0	0	0	0.000602	0	5	16		
PTGER4	5734	broad.mit.edu	37	5	40681862	40681862	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:40681862G>A	ENST00000302472.3	+	2	1791	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	256					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.R256H(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GACTTTCGGCGCCGCCGGAGC	0.716																																						uc003jlz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)	2						c.(766-768)CGC>CAC		prostaglandin E receptor 4, subtype EP4							12.0	14.0	14.0					5																	40681862		2061	3996	6057	SO:0001583	missense	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40681862G>A	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.767G>A	5.37:g.40681862G>A	ENSP00000302846:p.Arg256His						p.R256H	NM_000958	NP_000949	P35408	PE2R4_HUMAN			2	1359	+			256			Cytoplasmic (Potential).		Q3MJ87	Missense_Mutation	SNP	ENST00000302472.3	37	c.767G>A	CCDS3930.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595276	0.96602	.	.	ENSG00000171522	ENST00000302472	T	0.39787	1.06	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64349	0.2590	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.67593	-0.5631	10	0.62326	D	0.03	-26.6806	18.6347	0.91372	0.0:0.0:1.0:0.0	.	256	P35408	PE2R4_HUMAN	H	256	ENSP00000302846:R256H	ENSP00000302846:R256H	R	+	2	0	PTGER4	40717619	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.327000	0.96396	2.402000	0.81655	0.561000	0.74099	CGC		0.716	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2		NM_000958		6	26	0	0	0	0.001984	0	6	26		
MIER3	166968	broad.mit.edu	37	5	56219227	56219227	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:56219227A>T	ENST00000381199.3	-	13	1391	c.1381T>A	c.(1381-1383)Tat>Aat	p.Y461N	MIER3_ENST00000381213.3_Missense_Mutation_p.Y460N|MIER3_ENST00000381226.3_Missense_Mutation_p.Y466N|MIER3_ENST00000409421.1_Missense_Mutation_p.Y398N|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Y460N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCCGAGTGATAAAATCCAGTC	0.423																																						uc003jrd.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1381-1383)TAT>AAT		mesoderm induction early response 1, family							81.0	81.0	81.0					5																	56219227		2203	4300	6503	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56219227A>T	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1381T>A	5.37:g.56219227A>T	ENSP00000370596:p.Tyr461Asn					MIER3_uc003jqz.1_Missense_Mutation_p.Y398N|MIER3_uc003jra.1_Missense_Mutation_p.Y460N|MIER3_uc003jrb.1_Missense_Mutation_p.Y285N|MIER3_uc003jrc.1_Missense_Mutation_p.Y466N	p.Y461N	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	13	1406	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	461					B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.1381T>A		.	.	.	.	.	.	.	.	.	.	A	17.96	3.517133	0.64634	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.70439	0.3224	M	0.65498	2.005	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.78314	0.991;0.962;0.962	T	0.69694	-0.5076	10	0.39692	T	0.17	-0.0067	16.1377	0.81497	1.0:0.0:0.0:0.0	.	461;466;460	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	N	466;460;461;398	ENSP00000370624:Y466N;ENSP00000370611:Y460N;ENSP00000370596:Y461N;ENSP00000386584:Y398N	ENSP00000370596:Y461N	Y	-	1	0	MIER3	56254984	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.832000	0.92079	2.217000	0.71921	0.482000	0.46254	TAT		0.423	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2		NM_152622		19	37	0	0	0	0.010504	0	19	37		
COL4A3BP	10087	broad.mit.edu	37	5	74675245	74675245	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:74675245C>G	ENST00000405807.4	-	17	2222	c.1801G>C	c.(1801-1803)Gag>Cag	p.E601Q	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.E575Q|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.E729Q|COL4A3BP_ENST00000508692.1_Intron	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	601	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)	p.E601Q(1)|p.E729Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TTAGGATACTCTCGCTTTGCC	0.373																																						uc011csu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1801-1803)GAG>CAG		alpha 3 type IV collagen binding protein isoform							48.0	50.0	50.0					5																	74675245		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74675245C>G	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.1801G>C	5.37:g.74675245C>G	ENSP00000383996:p.Glu601Gln					COL4A3BP_uc003kds.2_Missense_Mutation_p.E575Q|COL4A3BP_uc003kdt.2_Missense_Mutation_p.E729Q|COL4A3BP_uc003kdu.2_Missense_Mutation_p.E601Q	p.E601Q	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	17	2223	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	601			START.		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.1801G>C	CCDS4028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.149978|5.149978	0.94645|0.94645	.|.	.|.	ENSG00000113163|ENSG00000113163	ENST00000357457;ENST00000405807;ENST00000380494;ENST00000261415|ENST00000508809	T;T;T|D	0.79247|0.84070	-1.25;-1.25;-1.25|-1.8	5.68|5.68	5.68|5.68	0.88126|0.88126	Lipid-binding START (3);START-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90820|0.90820	0.7117|0.7117	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.997|.	D|D	0.91356|0.91356	0.5108|0.5108	10|7	0.87932|0.87932	D|D	0|0	-2.882|-2.882	19.7754|19.7754	0.96389|0.96389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	601;729;575|.	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2|.	C43BP_HUMAN;.;.|.	Q|T	206;601;729;575|102	ENSP00000383996:E601Q;ENSP00000369862:E729Q;ENSP00000261415:E575Q|ENSP00000424244:R102T	ENSP00000261415:E575Q|ENSP00000424244:R102T	E|R	-|-	1|2	0|0	COL4A3BP|COL4A3BP	74711001|74711001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	7.794000|7.794000	0.85869|0.85869	2.681000|2.681000	0.91329|0.91329	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2		NM_005713		13	20	0	0	0	0.00245	0	13	20		
MSH3	4437	broad.mit.edu	37	5	79950603	79950603	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:79950603G>A	ENST00000265081.6	+	1	137	c.57G>A	c.(55-57)gcG>gcA	p.A19A	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	19					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.A19A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAGCCCCTGCGAGGCAAGCGG	0.682								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|ovary(1)|breast(1)	4						c.(55-57)GCG>GCA	MMR	mutS homolog 3							29.0	27.0	28.0					5																	79950603		2201	4294	6495	SO:0001819	synonymous_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950603G>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.57G>A	5.37:g.79950603G>A						DHFR_uc011ctl.1_5'UTR|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Silent_p.L51L|DHFR_uc003kgy.1_5'UTR	p.A19A	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	310	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	19					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	ENST00000265081.6	37	c.57G>A	CCDS34195.1																																																																																				0.682	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439		6	12	0	0	0	0.00308	0	6	12		
MSH3	4437	broad.mit.edu	37	5	80024675	80024675	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:80024675C>G	ENST00000265081.6	+	10	1539	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	487					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.Q478E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTAGGTTCTCAAATTATTTC	0.279								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	uc003kgz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|ovary(1)|breast(1)	4						c.(1459-1461)CAA>GAA	MMR	mutS homolog 3							70.0	80.0	77.0					5																	80024675		2199	4298	6497	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80024675C>G	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1459C>G	5.37:g.80024675C>G	ENSP00000265081:p.Gln487Glu						p.Q487E	NM_002439	NP_002430	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	10	1712	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	487					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.1459C>G	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	0.221	-1.028264	0.02045	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.92752	-3.1	5.46	4.59	0.56863	DNA mismatch repair protein MutS, connector (2);	0.430200	0.25380	N	0.031100	D	0.88702	0.6508	L	0.42245	1.32	0.29687	N	0.84127	B	0.20164	0.042	B	0.25506	0.061	T	0.80843	-0.1201	9	.	.	.	-19.0796	14.6284	0.68638	0.1471:0.8528:0.0:0.0	.	487	P20585	MSH3_HUMAN	E	487;478	ENSP00000265081:Q487E	.	Q	+	1	0	MSH3	80060431	1.000000	0.71417	0.969000	0.41365	0.165000	0.22458	3.330000	0.52068	1.292000	0.44672	-0.256000	0.11100	CAA		0.279	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439		15	53	0	0	0	0.00499	0	15	53		
VCAN	1462	broad.mit.edu	37	5	82832829	82832829	+	Missense_Mutation	SNP	G	G	A	rs372244245		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:82832829G>A	ENST00000265077.3	+	8	4572	c.4007G>A	c.(4006-4008)cGa>cAa	p.R1336Q	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.R349Q|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1336	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R1336L(1)|p.R1336Q(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTTTCAGGTCGAATGAGTGAT	0.368																																						uc003kii.3		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(4006-4008)CGA>CAA		versican isoform 1 precursor		G	,GLN/ARG,,GLN/ARG	0,4406		0,0,2203	66.0	68.0	67.0		,1046,,4007	5.1	1.0	5		67	1,8597	1.2+/-3.3	0,1,4298	no	intron,missense,intron,missense	VCAN	NM_001126336.2,NM_001164097.1,NM_001164098.1,NM_004385.4	,43,,43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,probably-damaging,,probably-damaging	,349/2410,,1336/3397	82832829	1,13003	2203	4299	6502	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82832829G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4007G>A	5.37:g.82832829G>A	ENSP00000265077:p.Arg1336Gln					VCAN_uc003kij.3_Missense_Mutation_p.R349Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_5'UTR	p.R1336Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4363	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1336			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4007G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327363	0.60743	0.0	1.16E-4	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;T;T	0.85629	-2.01;3.01;3.01	5.91	5.05	0.67936	.	0.136005	0.33895	N	0.004451	T	0.81370	0.4808	M	0.71581	2.175	0.80722	D	1	P;P	0.47106	0.887;0.89	B;B	0.38954	0.286;0.207	T	0.78785	-0.2068	10	0.25106	T	0.35	.	9.6459	0.39868	0.0785:0.2493:0.6721:0.0	.	349;1336	P13611-2;P13611	.;CSPG2_HUMAN	Q	1336;349;349	ENSP00000265077:R1336Q;ENSP00000340062:R349Q;ENSP00000426251:R349Q	ENSP00000265077:R1336Q	R	+	2	0	VCAN	82868585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.386000	0.44380	1.517000	0.48917	0.555000	0.69702	CGA		0.368	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385		8	7	0	0	0	0.00308	0	8	7		
LNPEP	4012	broad.mit.edu	37	5	96349455	96349455	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:96349455C>T	ENST00000231368.5	+	12	2831	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	LNPEP_ENST00000395770.3_Silent_p.I699I	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	713					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I713I(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AAGCACTAATCCATCAGTTGA	0.358																																						uc003kmv.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|breast(1)	4						c.(2137-2139)ATC>ATT		leucyl/cystinyl aminopeptidase isoform 1							159.0	152.0	155.0					5																	96349455		2203	4300	6503	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96349455C>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2139C>T	5.37:g.96349455C>T						LNPEP_uc003kmw.1_Silent_p.I699I	p.I713I	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	12	2653	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	713			Extracellular (Potential).		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.2139C>T	CCDS4087.1																																																																																				0.358	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1		NM_005575		11	65	0	0	0	0.010729	0	11	65		
TMED7	51014	broad.mit.edu	37	5	114951919	114951919	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:114951919C>T	ENST00000456936.3	-	3	1042	c.662G>A	c.(661-663)cGt>cAt	p.R221H	TICAM2_ENST00000408996.4_Intron|TMED7-TICAM2_ENST00000333314.3_Intron|TMED7_ENST00000503010.1_5'UTR|AC010226.4_ENST00000508517.1_RNA|TMED7-TICAM2_ENST00000282382.4_Intron|AC010226.4_ENST00000515570.1_RNA	NM_181836.5	NP_861974.1	Q9Y3B3	TMED7_HUMAN	transmembrane emp24 protein transport domain containing 7	221					protein transport (GO:0015031)	COPI vesicle coat (GO:0030126)|COPII vesicle coat (GO:0030127)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R221H(1)		breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		TGATCCAACACGAGTTGTGGT	0.378																																					Pancreas(167;237 2002 3207 14549 49356)	uc003krf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(661-663)CGT>CAT		transmembrane emp24 protein transport domain							98.0	102.0	101.0					5																	114951919		2202	4300	6502	SO:0001583	missense	51014				transport	endoplasmic reticulum membrane|integral to membrane		g.chr5:114951919C>T	AK074962	CCDS4120.1	5q22.3	2011-04-19			ENSG00000134970	ENSG00000134970			24253	protein-coding gene	gene with protein product						10810093	Standard	NM_181836		Approved	CGI-109, FLJ90481		Q9Y3B3	OTTHUMG00000132013	ENST00000456936.3:c.662G>A	5.37:g.114951919C>T	ENSP00000405926:p.Arg221His					TMED7-TICAM2_uc003krd.2_Intron|TMED7-TICAM2_uc003kre.2_Intron|TMED7_uc011cwd.1_Missense_Mutation_p.R133H	p.R221H	NM_181836	NP_861974	Q9Y3B3	TMED7_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)	3	1043	-		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)	221			Cytoplasmic (Potential).		Q8NBU8|Q8WUU6|Q96K51	Missense_Mutation	SNP	ENST00000456936.3	37	c.662G>A	CCDS4120.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391094	0.82902	.	.	ENSG00000134970	ENST00000456936	T	0.19669	2.13	5.89	5.89	0.94794	.	.	.	.	.	T	0.39384	0.1076	.	.	.	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	T	0.01767	-1.1278	8	0.38643	T	0.18	-0.6485	19.0242	0.92926	0.0:1.0:0.0:0.0	.	221	Q9Y3B3	TMED7_HUMAN	H	221	ENSP00000405926:R221H	ENSP00000405926:R221H	R	-	2	0	TMED7	114979818	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.786000	0.85741	2.788000	0.95919	0.557000	0.71058	CGT		0.378	TMED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254990.4		NM_181836		12	24	0	0	0	0.001368	0	12	24		
PCDHA1	56147	broad.mit.edu	37	5	140167237	140167237	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140167237G>A	ENST00000504120.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000378133.3_Silent_p.A454A|PCDHA1_ENST00000394633.3_Silent_p.A454A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A454A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGC	0.677																																						uc003lhb.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(1)	1						c.(1360-1362)GCG>GCA		protocadherin alpha 1 isoform 1 precursor							71.0	75.0	74.0					5																	140167237		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167237G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1362G>A	5.37:g.140167237G>A						PCDHA1_uc003lha.2_Silent_p.A454A|PCDHA1_uc003lgz.2_Silent_p.A454A	p.A454A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1362	+			454			Cadherin 4.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1362G>A	CCDS54913.1																																																																																				0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1		NM_018900		25	62	0	0	0	0.005443	0	25	62		
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						uc003lhx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)	ovary(2)|skin(2)|breast(1)	5						c.(1615-1617)GGG>GCG		protocadherin alpha 10 isoform 1 precursor							53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					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_uc011dad.1_Missense_Mutation_p.G539A	p.G539A	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+			539			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2		NM_018901		4	32	0	0	0	0.000602	0	4	32		
PCDHB4	56131	broad.mit.edu	37	5	140503600	140503600	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140503600G>A	ENST00000194152.1	+	1	2020	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	674					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E674K(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTCTCCCTGAGGCGGCCCC	0.677																																						uc003lip.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(2020-2022)GAG>AAG		protocadherin beta 4 precursor							50.0	57.0	55.0					5																	140503600		2146	4191	6337	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503600G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.2020G>A	5.37:g.140503600G>A	ENSP00000194152:p.Glu674Lys						p.E674K	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2020	+			674			Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.2020G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866526	0.91511	.	.	ENSG00000081818	ENST00000194152	T	0.47869	0.83	4.44	4.44	0.53790	.	.	.	.	.	T	0.56499	0.1989	M	0.87682	2.9	0.40017	D	0.975365	P	0.49358	0.923	P	0.45794	0.493	T	0.66732	-0.5849	9	0.72032	D	0.01	.	10.0914	0.42449	0.0949:0.0:0.9051:0.0	.	674	Q9Y5E5	PCDB4_HUMAN	K	674	ENSP00000194152:E674K	ENSP00000194152:E674K	E	+	1	0	PCDHB4	140483784	0.921000	0.31238	0.190000	0.23270	0.436000	0.31835	3.519000	0.53458	2.481000	0.83766	0.485000	0.47835	GAG		0.677	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2		NM_018938		43	76	0	0	0	0.011902	0	43	76		
PCDHB10	56126	broad.mit.edu	37	5	140574015	140574015	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140574015G>A	ENST00000239446.4	+	1	2074	c.1890G>A	c.(1888-1890)ctG>ctA	p.L630L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	630	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L630L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGCTGCTGAGCGAGCGCG	0.682																																						uc003lix.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1888-1890)CTG>CTA		protocadherin beta 10 precursor							20.0	20.0	20.0					5																	140574015		1802	3513	5315	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574015G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1890G>A	5.37:g.140574015G>A							p.L630L	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2064	+			630			Cadherin 6.|Extracellular (Potential).		Q96T99	Silent	SNP	ENST00000239446.4	37	c.1890G>A	CCDS4252.1																																																																																				0.682	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930		5	24	0	0	0	0.004482	0	5	24		
PCDHGA1	56114	broad.mit.edu	37	5	140712087	140712087	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:140712087C>T	ENST00000517417.1	+	1	1836	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	PCDHGA1_ENST00000378105.3_Silent_p.S612S	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S612S(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGGCCAGCGAGCCGGGAC	0.692																																						uc003lji.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|breast(1)|pancreas(1)	3						c.(1834-1836)AGC>AGT		protocadherin gamma subfamily A, 1 isoform 1							17.0	23.0	21.0					5																	140712087		2166	4225	6391	SO:0001819	synonymous_variant	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140712087C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1836C>T	5.37:g.140712087C>T						PCDHGA1_uc011dan.1_Silent_p.S612S	p.S612S	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1836	+			612			Extracellular (Potential).|Cadherin 6.		Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1836C>T	CCDS54922.1																																																																																				0.692	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1		NM_018912		16	46	0	0	0	0.004007	0	16	46		
HTR4	3360	broad.mit.edu	37	5	147928298	147928298	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr5:147928298G>A	ENST00000377888.3	-	4	424	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	HTR4_ENST00000354217.2_Missense_Mutation_p.R96W|HTR4_ENST00000362016.2_Missense_Mutation_p.R96W|HTR4_ENST00000520514.1_Missense_Mutation_p.R96W|HTR4_ENST00000519495.1_5'Flank|HTR4_ENST00000517929.1_Missense_Mutation_p.R96W|HTR4_ENST00000314512.6_Missense_Mutation_p.R96W|HTR4_ENST00000360693.3_Missense_Mutation_p.R96W|HTR4_ENST00000521530.1_Missense_Mutation_p.R96W|HTR4_ENST00000521735.1_Missense_Mutation_p.R96W	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	96					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R96W(3)		endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	AGAGATGTCCGAACAAGACAA	0.502																																					GBM(120;370 1604 14007 17804 41573)	uc003lpn.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(1)	1						c.(286-288)CGG>TGG		serotonin 5-HT4 receptor isoform b	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						106.0	93.0	97.0					5																	147928298		2203	4300	6503	SO:0001583	missense	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147928298G>A	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.286C>T	5.37:g.147928298G>A	ENSP00000367120:p.Arg96Trp					HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.R96W|HTR4_uc003lpj.1_Missense_Mutation_p.R96W|HTR4_uc003lpk.2_Missense_Mutation_p.R96W|HTR4_uc011dby.1_Missense_Mutation_p.R96W|HTR4_uc003lpl.2_Missense_Mutation_p.R96W|HTR4_uc003lpm.2_Missense_Mutation_p.R96W|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.R96W	p.R96W	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	450	-			96			Helical; Name=3; (By similarity).		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	c.286C>T	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216970	0.39201	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	N	0.01188	-0.97	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.76071	0.987;0.98;0.985;0.975;0.978;0.978;0.987	T	0.24119	-1.0169	10	0.02654	T	1	.	18.525	0.90968	0.0:0.0:1.0:0.0	.	96;96;96;96;96;96;96	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	W	96	ENSP00000428320:R96W;ENSP00000346156:R96W;ENSP00000314906:R96W;ENSP00000430979:R96W;ENSP00000435904:R96W;ENSP00000427913:R96W;ENSP00000367120:R96W;ENSP00000353915:R96W;ENSP00000355037:R96W	ENSP00000314906:R96W	R	-	1	2	HTR4	147908491	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.746000	0.62133	2.710000	0.92621	0.650000	0.86243	CGG		0.502	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2		NM_000870		3	13	0	0	0	0.009096	0	3	13		
FAM50B	26240	broad.mit.edu	37	6	3850759	3850759	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:3850759C>T	ENST00000380274.1	+	1	1140	c.714C>T	c.(712-714)atC>atT	p.I238I	FAM50B_ENST00000380272.3_Silent_p.I238I			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	238						nucleus (GO:0005634)		p.I238I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TCATGTTCATCAAGGAGGACC	0.627																																						uc003mvu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(712-714)ATC>ATT		family with sequence similarity 50, member B							68.0	59.0	62.0					6																	3850759		2203	4300	6503	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850759C>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.714C>T	6.37:g.3850759C>T							p.I238I	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN			2	826	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	238					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.714C>T	CCDS4487.1																																																																																				0.627	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1		NM_012135		18	35	0	0	0	0.008871	0	18	35		
PRPF4B	8899	broad.mit.edu	37	6	4049306	4049306	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:4049306C>G	ENST00000337659.6	+	8	2092	c.1992C>G	c.(1990-1992)ctC>ctG	p.L664L	PRPF4B_ENST00000538861.1_Silent_p.L650L	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	664					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L664L(1)|p.L153L(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATCCCAACCTCAGAGATAACT	0.408																																						uc003mvv.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(5)	5						c.(1990-1992)CTC>CTG		serine/threonine-protein kinase PRP4K							88.0	87.0	87.0					6																	4049306		2203	4300	6503	SO:0001819	synonymous_variant	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4049306C>G	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1992C>G	6.37:g.4049306C>G						PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA	p.L664L	NM_003913	NP_003904	Q13523	PRP4B_HUMAN			8	2083	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	664					A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	SNP	ENST00000337659.6	37	c.1992C>G	CCDS4488.1																																																																																				0.408	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2				10	39	0	0	0	0.006214	0	10	39		
DSP	1832	broad.mit.edu	37	6	7581110	7581110	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:7581110C>G	ENST00000379802.3	+	23	5028	c.4687C>G	c.(4687-4689)Ctg>Gtg	p.L1563V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1563	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L1563V(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGAACTCTCTGAAAGAGCT	0.542																																						uc003mxp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(4687-4689)CTG>GTG		desmoplakin isoform I							65.0	71.0	69.0					6																	7581110		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581110C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4687C>G	6.37:g.7581110C>G	ENSP00000369129:p.Leu1563Val					DSP_uc003mxq.1_Intron	p.L1563V	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4966	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1563			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.4687C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.874317	0.00542	.	.	ENSG00000096696	ENST00000379802	T	0.71698	-0.59	5.58	4.72	0.59763	.	0.295501	0.24516	N	0.037845	T	0.30885	0.0779	L	0.34521	1.04	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27400	-1.0075	10	0.06494	T	0.89	.	5.689	0.17819	0.1286:0.4573:0.3418:0.0722	.	1563	P15924	DESP_HUMAN	V	1563	ENSP00000369129:L1563V	ENSP00000369129:L1563V	L	+	1	2	DSP	7526109	0.270000	0.24152	0.905000	0.35620	0.760000	0.43138	0.885000	0.28227	1.371000	0.46172	-0.122000	0.15005	CTG		0.542	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		32	51	0	0	0	0.010818	0	32	51		
HFE	3077	broad.mit.edu	37	6	26092939	26092939	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:26092939C>T	ENST00000357618.5	+	4	765	c.643C>T	c.(643-645)Cat>Tat	p.H215Y	HFE_ENST00000317896.7_Missense_Mutation_p.H123Y|HFE_ENST00000353147.5_Missense_Mutation_p.H35Y|HFE_ENST00000352392.4_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Intron|HFE_ENST00000397022.3_Missense_Mutation_p.H192Y|HFE_ENST00000309234.6_Missense_Mutation_p.H215Y|HFE_ENST00000349999.4_Missense_Mutation_p.H127Y|HFE_ENST00000336625.8_Intron|HFE_ENST00000470149.1_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	215	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.H215Y(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGACACATCATGTGACCTC	0.512									Hemochromatosis																													uc003nfx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(643-645)CAT>TAT		hemochromatosis protein isoform 1 precursor							187.0	171.0	176.0					6																	26092939		2203	4300	6503	SO:0001583	missense	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26092939C>T		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.643C>T	6.37:g.26092939C>T	ENSP00000417404:p.His215Tyr					HFE_uc003nfy.1_Missense_Mutation_p.H192Y|HFE_uc010jqe.1_Intron|HFE_uc003nfz.1_Missense_Mutation_p.H127Y|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Intron|HFE_uc003ngb.1_Intron|HFE_uc003ngc.1_Missense_Mutation_p.H123Y|HFE_uc003nge.1_Missense_Mutation_p.H35Y|HFE_uc003ngf.1_Intron	p.H215Y	NM_000410	NP_000401	Q30201	HFE_HUMAN			4	803	+			215			Alpha-3.|Ig-like C1-type.|Extracellular (Potential).		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	ENST00000357618.5	37	c.643C>T	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	.	13.96	2.393688	0.42410	.	.	ENSG00000010704	ENST00000349999;ENST00000397022;ENST00000317896;ENST00000353147;ENST00000539147;ENST00000357618;ENST00000309234	T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59	5.34	4.47	0.54385	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.719064	0.13385	N	0.391818	T	0.28101	0.0693	M	0.92026	3.265	0.09310	N	1	B;D;D;B;P	0.63880	0.024;0.993;0.978;0.115;0.867	B;P;P;B;B	0.61477	0.016;0.889;0.512;0.092;0.427	T	0.24476	-1.0159	10	0.87932	D	0	.	10.065	0.42297	0.0:0.9097:0.0:0.0903	.	35;123;127;192;215	Q30201-6;Q30201-7;Q30201-2;Q30201-5;Q30201	.;.;.;.;HFE_HUMAN	Y	127;192;123;35;110;215;215	ENSP00000259699:H127Y;ENSP00000380217:H192Y;ENSP00000313776:H123Y;ENSP00000312342:H35Y;ENSP00000417404:H215Y;ENSP00000311698:H215Y	ENSP00000311698:H215Y	H	+	1	0	HFE	26200918	0.009000	0.17119	0.003000	0.11579	0.310000	0.27922	2.316000	0.43761	1.632000	0.50472	-0.142000	0.14014	CAT		0.512	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1				16	99	0	0	0	0.007413	0	16	99		
HIST1H2BH	8345	broad.mit.edu	37	6	26252142	26252142	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:26252142G>C	ENST00000356350.2	+	1	264	c.264G>C	c.(262-264)tcG>tcC	p.S88S	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	88					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S88S(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ACAAGCGTTCGACCATCACCT	0.597																																						uc003nhh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(262-264)TCG>TCC		histone cluster 1, H2bh							87.0	91.0	90.0					6																	26252142		2203	4300	6503	SO:0001819	synonymous_variant	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252142G>C	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.264G>C	6.37:g.26252142G>C						HIST1H3F_uc003nhg.1_5'Flank	p.S88S	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	264	+			88					B2R541|Q4VB74	Silent	SNP	ENST00000356350.2	37	c.264G>C	CCDS4601.1																																																																																				0.597	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1		NM_003524		6	97	0	0	0	0.001984	0	6	97		
HIST1H4I	8294	broad.mit.edu	37	6	27107244	27107244	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:27107244G>C	ENST00000354348.2	+	1	169	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	53					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E53Q(1)		lung(1)	1						CCTCATCTATGAGGAGACCCG	0.632			T	BCL6	NHL																																	uc003niy.1		NaN		Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		1	Substitution - Missense(1)		urinary_tract(1)	lung(1)	1						c.(157-159)GAG>CAG		histone cluster 1, H4i							68.0	67.0	67.0					6																	27107244		2203	4300	6503	SO:0001583	missense	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107244G>C	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.157G>C	6.37:g.27107244G>C	ENSP00000346316:p.Glu53Gln					HIST1H2BK_uc003nix.1_Intron	p.E53Q	NM_003495	NP_003486	P62805	H4_HUMAN			1	157	+			53					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000354348.2	37	c.157G>C	CCDS4620.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.265718	0.80358	.	.	ENSG00000198339	ENST00000354348	T	0.68624	-0.34	3.8	3.8	0.43715	.	0.000000	0.41294	U	0.000917	T	0.74981	0.3788	M	0.83603	2.65	0.50467	D	0.999871	.	.	.	.	.	.	T	0.79217	-0.1894	8	0.59425	D	0.04	.	13.9996	0.64424	0.0:0.0:1.0:0.0	.	.	.	.	Q	53	ENSP00000346316:E53Q	ENSP00000346316:E53Q	E	+	1	0	HIST1H4I	27215223	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	8.853000	0.92222	2.068000	0.61886	0.655000	0.94253	GAG		0.632	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1		NM_003495		7	65	0	0	0	0.001984	0	7	65		
HLA-E	3133	broad.mit.edu	37	6	30457338	30457338	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:30457338C>G	ENST00000376630.4	+	1	95	c.30C>G	c.(28-30)ctC>ctG	p.L10L		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	10				L -> S (in Ref. 1; AAA52655). {ECO:0000305}.	antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)	p.L10L(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TTTTACTCCTCTCGGAGGCCC	0.637																																						uc003nqg.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(4)|ovary(1)	5						c.(28-30)CTC>CTG		major histocompatibility complex, class I, E							72.0	77.0	75.0					6																	30457338		2203	4300	6503	SO:0001819	synonymous_variant	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30457338C>G	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.30C>G	6.37:g.30457338C>G						HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.S8C	p.L10L	NM_005516	NP_005507	P13747	HLAE_HUMAN			1	68	+			10	L -> S (in Ref. 1; AAA52655).				Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	c.30C>G	CCDS34379.1																																																																																				0.637	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2		NM_005516		35	77	0	0	0	0.004289	0	35	77		
DDX39B	7919	broad.mit.edu	37	6	31498646	31498646	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:31498646C>T	ENST00000396172.1	-	10	1810	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	DDX39B_ENST00000458640.1_Missense_Mutation_p.E394K|DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.M401I|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Missense_Mutation_p.E316K|DDX39B_ENST00000417556.2_Missense_Mutation_p.E409K	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	394	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.E394K(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCATCATTCTCATCGGACACA	0.512																																						uc003ntt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1180-1182)GAG>AAG		HLA-B associated transcript 1							81.0	81.0	81.0					6																	31498646		1511	2709	4220	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31498646C>T	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1180G>A	6.37:g.31498646C>T	ENSP00000379475:p.Glu394Lys					BAT1_uc003ntq.2_Missense_Mutation_p.E127K|BAT1_uc003ntr.2_Missense_Mutation_p.E201K|BAT1_uc003nts.2_Missense_Mutation_p.M401I|BAT1_uc011dnn.1_Missense_Mutation_p.E316K|BAT1_uc003ntu.2_Missense_Mutation_p.E394K|BAT1_uc003ntv.2_Missense_Mutation_p.E394K	p.E394K	NM_004640	NP_004631	Q13838	DX39B_HUMAN			10	1811	-			394			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.1180G>A	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.598988|4.598988	0.87055|0.87055	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382|ENST00000376177;ENST00000417023	T;T;T;T|T	0.04758|0.34859	3.56;3.56;3.56;3.56|1.34	4.53|4.53	4.53|4.53	0.55603|0.55603	Helicase, C-terminal (1);|.	0.158536|.	0.37623|.	N|.	0.002014|.	T|T	0.19805|0.19805	0.0476|0.0476	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	B;P;P;P|B	0.44044|0.15473	0.03;0.825;0.782;0.825|0.013	B;B;P;B|B	0.57371|0.15052	0.003;0.322;0.819;0.258|0.012	T|T	0.08576|0.08576	-1.0715|-1.0715	10|9	0.46703|0.87932	T|D	0.11|0	-24.6201|-24.6201	14.8313|14.8313	0.70151|0.70151	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	316;394;409;293|401	B4DP52;Q13838;F8VQ10;B0V2L1|Q5STU3	.;DX39B_HUMAN;.;.|.	K|I	394;394;409;316|401;157	ENSP00000416269:E394K;ENSP00000379475:E394K;ENSP00000412582:E409K;ENSP00000392669:E316K|ENSP00000365347:M401I	ENSP00000379475:E394K|ENSP00000365347:M401I	E|M	-|-	1|3	0|0	DDX39B|DDX39B	31606625|31606625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	7.095000|7.095000	0.76952|0.76952	2.362000|2.362000	0.80069|0.80069	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.512	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1		NM_004640		11	48	0	0	0	0.001368	0	11	48		
TNXB	7148	broad.mit.edu	37	6	32016366	32016366	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:32016366C>T	ENST00000375244.3	-	29	10020	c.9819G>A	c.(9817-9819)gtG>gtA	p.V3273V	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Silent_p.V3271V			P22105	TENX_HUMAN	tenascin XB	3318	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.V3273V(1)|p.V3338V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTCCGAGGTCACGGCCGCCA	0.701																																						uc003nzl.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(9811-9813)GTG>GTA		tenascin XB isoform 1 precursor							14.0	18.0	17.0					6																	32016366		1970	4140	6110	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32016366C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9819G>A	6.37:g.32016366C>T						TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	p.V3271V	NM_019105	NP_061978	P22105	TENX_HUMAN			29	10015	-			3318			Fibronectin type-III 25.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9813G>A																																																																																					0.701	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		4	22	0	0	0	0.009096	0	4	22		
HSD17B8	7923	broad.mit.edu	37	6	33173008	33173008	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:33173008C>G	ENST00000374662.3	+	3	308	c.281C>G	c.(280-282)tCt>tGt	p.S94C	HSD17B8_ENST00000469186.1_3'UTR|MIR219-1_ENST00000362166.1_RNA	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	94					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.S94C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						GCCTGCTTTTCTCGCCCACCA	0.547																																						uc003odi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|central_nervous_system(1)	2						c.(280-282)TCT>TGT		estradiol 17 beta-dehydrogenase 8	NADH(DB00157)						97.0	80.0	86.0					6																	33173008		1511	2709	4220	SO:0001583	missense	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33173008C>G	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.281C>G	6.37:g.33173008C>G	ENSP00000363794:p.Ser94Cys					uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank	p.S94C	NM_014234	NP_055049	Q92506	DHB8_HUMAN			3	308	+			94					A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	c.281C>G	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651226	0.67472	.	.	ENSG00000204228	ENST00000374662	T	0.23147	1.92	4.72	3.84	0.44239	NAD(P)-binding domain (1);	0.116972	0.64402	D	0.000012	T	0.16471	0.0396	L	0.28400	0.85	0.42026	D	0.991004	D	0.60160	0.987	P	0.51999	0.687	T	0.02167	-1.1202	10	0.87932	D	0	.	11.033	0.47785	0.0:0.9075:0.0:0.0925	.	94	Q92506	DHB8_HUMAN	C	94	ENSP00000363794:S94C	ENSP00000363794:S94C	S	+	2	0	HSD17B8	33280986	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.524000	0.35942	1.200000	0.43188	0.643000	0.83706	TCT		0.547	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1		NM_014234		5	44	0	0	0	0.000602	0	5	44		
HSD17B8	7923	broad.mit.edu	37	6	33173950	33173950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:33173950G>A	ENST00000374662.3	+	7	718	c.691G>A	c.(691-693)Gag>Aag	p.E231K	HSD17B8_ENST00000469186.1_3'UTR|RING1_ENST00000374656.4_5'Flank|MIR219-1_ENST00000362166.1_RNA	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	231					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)	p.E231K(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						GGGGGACCCTGAGGGTGAGCA	0.488																																						uc003odi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|central_nervous_system(1)	2						c.(691-693)GAG>AAG		estradiol 17 beta-dehydrogenase 8	NADH(DB00157)						38.0	46.0	43.0					6																	33173950		1504	2706	4210	SO:0001583	missense	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33173950G>A	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.691G>A	6.37:g.33173950G>A	ENSP00000363794:p.Glu231Lys					uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank|RING1_uc011dqw.1_5'Flank|RING1_uc011dqx.1_5'Flank|RING1_uc003odk.2_5'Flank	p.E231K	NM_014234	NP_055049	Q92506	DHB8_HUMAN			7	718	+			231					A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	c.691G>A	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819108	0.71028	.	.	ENSG00000204228	ENST00000374662	D	0.88896	-2.44	4.89	3.07	0.35406	NAD(P)-binding domain (1);	0.254231	0.37623	N	0.002015	T	0.73908	0.3647	L	0.54863	1.705	0.48762	D	0.999709	P	0.41848	0.763	B	0.34242	0.178	T	0.72561	-0.4256	10	0.56958	D	0.05	.	6.4718	0.22013	0.1002:0.1852:0.7146:0.0	.	231	Q92506	DHB8_HUMAN	K	231	ENSP00000363794:E231K	ENSP00000363794:E231K	E	+	1	0	HSD17B8	33281928	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.241000	0.32743	0.479000	0.27511	-0.196000	0.12772	GAG		0.488	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1		NM_014234		6	39	0	0	0	0.001984	0	6	39		
RNF8	9025	broad.mit.edu	37	6	37328350	37328350	+	Splice_Site	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:37328350G>T	ENST00000373479.4	+	2	433	c.240G>T	c.(238-240)aaG>aaT	p.K80N	RNF8_ENST00000394443.4_Splice_Site_p.K80N|RNF8_ENST00000469731.1_Splice_Site_p.K80N|RNF8_ENST00000479516.1_3'UTR|RN7SL273P_ENST00000481561.2_RNA	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	80	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K80N(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TGGACAACAAGGTACAGGAAT	0.333																																						uc003onq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(238-240)AAG>AAT		ring finger protein 8 isoform 1							95.0	88.0	91.0					6																	37328350		2203	4300	6503	SO:0001630	splice_region_variant	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37328350G>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.240+1G>T	6.37:g.37328350G>T						RNF8_uc003onr.3_Missense_Mutation_p.K80N|RNF8_uc011dtx.1_5'UTR	p.K80N	NM_003958	NP_003949	O76064	RNF8_HUMAN			2	433	+			80			FHA.		A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.240G>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014115	0.75161	.	.	ENSG00000112130	ENST00000373479;ENST00000394443;ENST00000487950;ENST00000469731	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	4.98	4.1	0.47936	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.86100	0.5852	L	0.37466	1.105	0.53688	D	0.999974	D;D	0.58620	0.983;0.982	D;P	0.63283	0.913;0.898	D	0.88367	0.2992	10	0.87932	D	0	-5.704	14.1561	0.65419	0.0:0.0:0.8491:0.1509	.	23;80	C9J858;O76064	.;RNF8_HUMAN	N	80;80;23;80	ENSP00000362578:K80N;ENSP00000377961:K80N;ENSP00000417736:K23N;ENSP00000418879:K80N	ENSP00000229866:K80N	K	+	3	2	RNF8	37436328	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.539000	0.73856	1.218000	0.43458	0.557000	0.71058	AAG		0.333	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			Missense_Mutation	10	28	1	0	2.68362e-12	0.001368	2.85756e-12	10	28		
TSPO2	222642	broad.mit.edu	37	6	41011326	41011326	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:41011326G>C	ENST00000373161.1	+	3	449	c.204G>C	c.(202-204)ctG>ctC	p.L68L	TSPO2_ENST00000470917.1_Silent_p.L68L|TSPO2_ENST00000373158.2_Intron	NM_001010873.2	NP_001010873.1	Q5TGU0	TSPO2_HUMAN	translocator protein 2	68					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)	p.L68L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGAAGGACCTGGGAGGGGGCT	0.582																																						uc003opj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(202-204)CTG>CTC		benzodiazapine receptor (peripheral)-like 1							96.0	95.0	96.0					6																	41011326		2203	4300	6503	SO:0001819	synonymous_variant	222642				transport	endoplasmic reticulum membrane|integral to membrane	cholesterol binding|receptor activity	g.chr6:41011326G>C		CCDS34444.1	6p21.1	2009-09-18	2009-09-04	2009-09-04	ENSG00000112212	ENSG00000112212			21256	protein-coding gene	gene with protein product	"""similar to RIKEN cDNA 2510027D20"""		"""benzodiazapine receptor (peripheral)-like 1"""	BZRPL1		19729679	Standard	NM_001010873		Approved	dJ34B21.2	uc003opj.3	Q5TGU0	OTTHUMG00000014666	ENST00000373161.1:c.204G>C	6.37:g.41011326G>C						UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Intron|TSPO2_uc011dub.1_Silent_p.L68L	p.L68L	NM_001010873	NP_001010873	Q5TGU0	TSPO2_HUMAN			3	505	+			68					B2RPR2|B7ZMN8|Q3SX82	Silent	SNP	ENST00000373161.1	37	c.204G>C	CCDS34444.1																																																																																				0.582	TSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040493.1		NM_001010873.2		11	86	0	0	0	0.001368	0	11	86		
FRS3	10817	broad.mit.edu	37	6	41739006	41739006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:41739006G>C	ENST00000373018.3	-	7	1081	c.830C>G	c.(829-831)tCt>tGt	p.S277C	FRS3_ENST00000259748.2_Missense_Mutation_p.S277C	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	277					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)	p.S277C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGACACTCAGAAGGGGCCTC	0.647																																						uc003orc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(829-831)TCT>TGT		fibroblast growth factor receptor substrate 3							72.0	66.0	68.0					6																	41739006		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41739006G>C	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.830C>G	6.37:g.41739006G>C	ENSP00000362109:p.Ser277Cys						p.S277C	NM_006653	NP_006644	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1074	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		277					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.830C>G	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699599	0.48307	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23950	1.88;1.88	5.97	5.1	0.69264	.	0.609564	0.18743	N	0.132382	T	0.13927	0.0337	L	0.40543	1.245	0.09310	N	1	D	0.59357	0.985	P	0.46796	0.527	T	0.07481	-1.0770	10	0.72032	D	0.01	-32.4417	8.6392	0.33968	0.076:0.0:0.6898:0.2342	.	277	O43559	FRS3_HUMAN	C	277	ENSP00000362109:S277C;ENSP00000259748:S277C	ENSP00000259748:S277C	S	-	2	0	FRS3	41846984	0.012000	0.17670	0.152000	0.22495	0.953000	0.61014	1.049000	0.30392	2.837000	0.97791	0.655000	0.94253	TCT		0.647	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2		NM_006653		5	45	0	0	0	0.001984	0	5	45		
CUL7	9820	broad.mit.edu	37	6	43008354	43008354	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:43008354C>G	ENST00000265348.3	-	21	4022	c.3937G>C	c.(3937-3939)Gag>Cag	p.E1313Q	CUL7_ENST00000535468.1_Missense_Mutation_p.E1397Q			Q14999	CUL7_HUMAN	cullin 7	1313					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E1313Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGCTGCAGCTCCTTAGAGGTG	0.602																																						uc003otq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|kidney(1)	4						c.(3937-3939)GAG>CAG		cullin 7							100.0	108.0	105.0					6																	43008354		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43008354C>G	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3937G>C	6.37:g.43008354C>G	ENSP00000265348:p.Glu1313Gln					CUL7_uc010jyg.2_Missense_Mutation_p.E592Q|CUL7_uc011dvb.1_Missense_Mutation_p.E1397Q|CUL7_uc010jyh.2_Missense_Mutation_p.E306Q|KLC4_uc003otr.1_5'Flank	p.E1313Q	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		21	4240	-			1313					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.3937G>C	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284263	0.80803	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.76968	-1.06;-1.06	5.33	5.33	0.75918	Cullin, N-terminal (1);Cullin homology (2);	0.145914	0.64402	D	0.000009	D	0.85487	0.5708	M	0.66939	2.045	0.41580	D	0.988739	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.76575	0.975;0.986;0.988;0.988	D	0.86697	0.1927	10	0.72032	D	0.01	-25.2611	19.0218	0.92919	0.0:1.0:0.0:0.0	.	1397;1313;1397;1313	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	Q	1313;1397	ENSP00000265348:E1313Q;ENSP00000438788:E1397Q	ENSP00000265348:E1313Q	E	-	1	0	CUL7	43116332	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.471000	0.80985	2.483000	0.83821	0.563000	0.77884	GAG		0.602	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		NM_014780		27	129	0	0	0	0.00632	0	27	129		
MEP1A	4224	broad.mit.edu	37	6	46801038	46801038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:46801038C>T	ENST00000230588.4	+	11	1381	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	458	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R458*(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCAGAGCCCTCGATTCTACAA	0.498																																						uc010jzh.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	pancreas(2)|ovary(1)	3						c.(1372-1374)CGA>TGA		meprin A alpha precursor							67.0	70.0	69.0					6																	46801038		2203	4300	6503	SO:0001587	stop_gained	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46801038C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1372C>T	6.37:g.46801038C>T	ENSP00000230588:p.Arg458*					MEP1A_uc011dwg.1_Nonsense_Mutation_p.R180*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.R486*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.R358*	p.R458*	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1414	+			458			MATH.|Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Nonsense_Mutation	SNP	ENST00000230588.4	37	c.1372C>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969442	0.92855	.	.	ENSG00000112818	ENST00000230588	.	.	.	5.72	3.92	0.45320	.	0.357482	0.33005	N	0.005398	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-4.1757	9.634	0.39795	0.2528:0.6802:0.0:0.067	.	.	.	.	X	458	.	ENSP00000230588:R458X	R	+	1	2	MEP1A	46908997	0.003000	0.15002	0.980000	0.43619	0.769000	0.43574	0.203000	0.17315	1.400000	0.46741	0.650000	0.86243	CGA		0.498	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1		NM_005588		23	46	0	0	0	0.00278	0	23	46		
CD2AP	23607	broad.mit.edu	37	6	47576971	47576971	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:47576971C>G	ENST00000359314.5	+	16	2201	c.1745C>G	c.(1744-1746)tCc>tGc	p.S582C	CD2AP_ENST00000486693.1_3'UTR	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	582					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)	p.S582C(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAAAAAATTCCCTGGATGAA	0.393																																						uc003oyw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1744-1746)TCC>TGC		CD2-associated protein							99.0	95.0	97.0					6																	47576971		2203	4300	6503	SO:0001583	missense	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47576971C>G	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.1745C>G	6.37:g.47576971C>G	ENSP00000352264:p.Ser582Cys						p.S582C	NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		16	2201	+			582			Potential.		A6NL34|Q5VYA3|Q9UG97	Missense_Mutation	SNP	ENST00000359314.5	37	c.1745C>G	CCDS34472.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979386	0.34942	.	.	ENSG00000198087	ENST00000359314	T	0.26373	1.74	5.65	3.56	0.40772	.	2.806670	0.00913	N	0.002486	T	0.13372	0.0324	L	0.51422	1.61	0.09310	N	1	P	0.45569	0.861	B	0.41946	0.371	T	0.09684	-1.0663	10	0.42905	T	0.14	0.6238	7.3376	0.26619	0.1406:0.6928:0.0:0.1666	.	582	Q9Y5K6	CD2AP_HUMAN	C	582	ENSP00000352264:S582C	ENSP00000352264:S582C	S	+	2	0	CD2AP	47684930	0.000000	0.05858	0.111000	0.21465	0.975000	0.68041	0.949000	0.29109	1.399000	0.46721	-0.137000	0.14449	TCC		0.393	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2				8	61	0	0	0	0.00308	0	8	61		
PKHD1	5314	broad.mit.edu	37	6	51524156	51524157	+	Missense_Mutation	DNP	TC	TC	CA			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:51524156_51524157TC>CA	ENST00000371117.3	-	61	11042_11043	c.10767_10768GA>TG	c.(10765-10770)caGAtt>caTGtt	p.3589_3590QI>HV		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3589					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.Q3589H(1)|p.I3590V(1)|p.Q3589_I3590>HV(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTTGGCCAATCTGTAAGAAGT	0.436																																						uc003pah.1		NaN																	3	Substitution - Missense(2)|Complex - compound substitution(1)		urinary_tract(3)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(10765-10770)CAGATT>CATGTT		fibrocystin isoform 1																																				SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524156_51524157TC>CA	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10767_10768delinsCA	6.37:g.51524156_51524157delinsCA	ENSP00000360158:p.Q3589_I3590delinsHV						p.3589_3590QI>HV	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	11043_11044	-	Lung NSC(77;0.0605)		3589_3590			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	DNP	ENST00000371117.3	37	c.10767_10768GA>TG	CCDS4935.1																																																																																				0.436	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1		NM_138694		4	41	0	0	0	0.004672	0	4	41		
PAQR8	85315	broad.mit.edu	37	6	52268302	52268302	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:52268302C>T	ENST00000442253.2	+	2	465	c.291C>T	c.(289-291)gcC>gcT	p.A97A	PAQR8_ENST00000360726.3_Silent_p.A97A	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	97					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.A97A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGGCCTTTGCCGAGGCTGAGG	0.577																																						uc003pao.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(289-291)GCC>GCT		progestin and adipoQ receptor family member							75.0	70.0	72.0					6																	52268302		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268302C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.291C>T	6.37:g.52268302C>T							p.A97A	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	465	+	Lung NSC(77;0.0875)		97			Extracellular (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.291C>T	CCDS4941.1																																																																																				0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2		NM_133367		13	84	0	0	0	0.001368	0	13	84		
GSTA5	221357	broad.mit.edu	37	6	52701092	52701092	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:52701092G>T	ENST00000370989.2	-	3	243	c.214C>A	c.(214-216)Ctt>Att	p.L72I	GSTA5_ENST00000284562.2_Missense_Mutation_p.L72I|GSTA5_ENST00000475052.1_Intron			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	72	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.L72I(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ATGTAGTTAAGAATGGCTCTG	0.423																																						uc003pba.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(214-216)CTT>ATT		glutathione S-transferase alpha 5	Glutathione(DB00143)						165.0	166.0	166.0					6																	52701092		2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52701092G>T	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.214C>A	6.37:g.52701092G>T	ENSP00000360028:p.Leu72Ile						p.L72I	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			4	284	-	Lung NSC(77;0.0912)		72			GST N-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.214C>A	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676694	0.47886	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.08282	3.11;3.11	2.63	2.63	0.31362	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.11623	0.0283	M	0.84511	2.7	0.39124	D	0.961713	B	0.20164	0.042	B	0.42882	0.401	T	0.01863	-1.1258	10	0.72032	D	0.01	.	7.6177	0.28167	0.128:0.0:0.872:0.0	.	72	Q7RTV2	GSTA5_HUMAN	I	72	ENSP00000360028:L72I;ENSP00000284562:L72I	ENSP00000284562:L72I	L	-	1	0	GSTA5	52809051	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	3.110000	0.50352	1.456000	0.47831	0.205000	0.17691	CTT		0.423	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1		NM_153699		51	174	1	0	5.13769e-22	0.00361	5.49613e-22	51	174		
GSTA4	2941	broad.mit.edu	37	6	52850346	52850346	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:52850346C>T	ENST00000370959.1	-	4	292	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	GSTA4_ENST00000370960.1_Intron|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	59	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)	p.E59K(1)		endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCGTCAATTTCAACCATGGGC	0.468																																						uc003pbc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(175-177)GAA>AAA		glutathione S-transferase alpha 4	Glutathione(DB00143)						161.0	142.0	148.0					6																	52850346		2203	4300	6503	SO:0001583	missense	2941				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	g.chr6:52850346C>T	AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.175G>A	6.37:g.52850346C>T	ENSP00000359998:p.Glu59Lys					GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.E59K	p.E59K	NM_001512	NP_001503	O15217	GSTA4_HUMAN			3	239	-	Lung NSC(77;0.103)		59			GST N-terminal.		B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	ENST00000370959.1	37	c.175G>A	CCDS4948.1	.	.	.	.	.	.	.	.	.	.	C	34	5.372700	0.95923	.	.	ENSG00000170899	ENST00000370963;ENST00000370959	T;T	0.09350	2.99;2.99	5.36	5.36	0.76844	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.36936	0.0985	M	0.93462	3.42	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.49716	-0.8910	10	0.66056	D	0.02	-34.1618	17.2272	0.86973	0.0:1.0:0.0:0.0	.	59	O15217	GSTA4_HUMAN	K	59	ENSP00000360002:E59K;ENSP00000359998:E59K	ENSP00000359998:E59K	E	-	1	0	GSTA4	52958305	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.567000	0.73983	2.658000	0.90341	0.655000	0.94253	GAA		0.468	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040946.1		NM_001512		13	62	0	0	0	0.001855	0	13	62		
SMAP1	60682	broad.mit.edu	37	6	71566608	71566608	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:71566608C>T	ENST00000370455.3	+	9	1084	c.836C>T	c.(835-837)tCt>tTt	p.S279F	B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_Missense_Mutation_p.S252F|SMAP1_ENST00000316999.5_Missense_Mutation_p.S252F	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	279					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S252F(1)|p.S279F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						ACAGTAACATCTGGGGATCTA	0.428																																						uc003pfr.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(835-837)TCT>TTT		stromal membrane-associated GTPase-activating							84.0	82.0	82.0					6																	71566608		2203	4300	6503	SO:0001583	missense	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71566608C>T	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.836C>T	6.37:g.71566608C>T	ENSP00000359484:p.Ser279Phe					SMAP1_uc003pfs.2_Missense_Mutation_p.S252F|SMAP1_uc010kao.2_Missense_Mutation_p.S252F|SMAP1_uc010kap.2_Missense_Mutation_p.S269F	p.S279F	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			9	1084	+			279					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	c.836C>T	CCDS43478.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957372	0.73902	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455	T;T;T	0.25749	2.05;2.07;1.78	5.64	5.64	0.86602	.	0.394295	0.21231	N	0.077966	T	0.32852	0.0843	L	0.50333	1.59	0.80722	D	1	P;D;P;P	0.56968	0.94;0.978;0.873;0.94	B;P;P;P	0.54629	0.326;0.757;0.558;0.448	T	0.04579	-1.0941	10	0.72032	D	0.01	-16.8808	19.76	0.96311	0.0:1.0:0.0:0.0	.	279;252;252;279	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	F	252;252;279	ENSP00000359481:S252F;ENSP00000313382:S252F;ENSP00000359484:S279F	ENSP00000313382:S252F	S	+	2	0	SMAP1	71623329	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	6.262000	0.72514	2.664000	0.90586	0.551000	0.68910	TCT		0.428	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1		NM_001044305		7	82	0	0	0	0.001984	0	7	82		
FAM46A	55603	broad.mit.edu	37	6	82459984	82459984	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:82459984C>T	ENST00000320172.6	-	3	1071	c.757G>A	c.(757-759)Gag>Aag	p.E253K	FAM46A_ENST00000369756.3_Missense_Mutation_p.E334K|FAM46A_ENST00000369754.3_Missense_Mutation_p.E272K	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	253					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.E253K(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TGAAATGTCTCAGTCATTGGG	0.438																																						uc003pjg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(757-759)GAG>AAG		hypothetical protein LOC55603							67.0	71.0	70.0					6																	82459984		2203	4300	6503	SO:0001583	missense	55603							g.chr6:82459984C>T	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.757G>A	6.37:g.82459984C>T	ENSP00000318298:p.Glu253Lys					FAM46A_uc003pjf.2_Missense_Mutation_p.E272K	p.E253K	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	3	1075	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	253					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	c.757G>A	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141621	0.21205	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.25579	1.79;1.79;1.79	5.95	5.95	0.96441	Domain of unknown function DUF1693 (1);	.	.	.	.	T	0.20170	0.0485	L	0.60957	1.885	0.80722	D	1	B;B	0.16603	0.018;0.015	B;B	0.20184	0.028;0.016	T	0.01781	-1.1275	9	0.40728	T	0.16	-5.6508	20.3932	0.98965	0.0:1.0:0.0:0.0	.	253;272	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	K	272;253;334	ENSP00000358769:E272K;ENSP00000318298:E253K;ENSP00000358771:E334K	ENSP00000318298:E253K	E	-	1	0	FAM46A	82516703	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	5.851000	0.69481	2.824000	0.97209	0.655000	0.94253	GAG		0.438	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1				16	70	0	0	0	0.008871	0	16	70		
NT5E	4907	broad.mit.edu	37	6	86181054	86181054	+	Missense_Mutation	SNP	C	C	T	rs373328681		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:86181054C>T	ENST00000257770.3	+	3	711	c.662C>T	c.(661-663)tCg>tTg	p.S221L	NT5E_ENST00000369646.3_Missense_Mutation_p.S221L|NT5E_ENST00000369651.3_Missense_Mutation_p.S221L	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	221					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S221L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	CTGGGACATTCGGGTTTTGAA	0.393																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(661-663)TCG>TTG		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						100.0	100.0	100.0					6																	86181054		2203	4300	6503	SO:0001583	missense	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86181054C>T	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.662C>T	6.37:g.86181054C>T	ENSP00000257770:p.Ser221Leu					NT5E_uc003pkn.2_Missense_Mutation_p.S221L|NT5E_uc010kbr.2_Missense_Mutation_p.S221L	p.S221L	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	3	1218	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	221					B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	c.662C>T	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735663	0.69189	.	.	ENSG00000135318	ENST00000257770;ENST00000369646;ENST00000369651	D;D;D	0.85013	-1.93;-1.93;-1.93	4.89	4.89	0.63831	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	L	0.31752	0.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.987;0.99;0.979	D	0.86042	0.1520	10	0.42905	T	0.14	-15.4329	18.4257	0.90608	0.0:1.0:0.0:0.0	.	221;221;221	B3KQI8;P21589;Q96B60	.;5NTD_HUMAN;.	L	221	ENSP00000257770:S221L;ENSP00000358660:S221L;ENSP00000358665:S221L	ENSP00000257770:S221L	S	+	2	0	NT5E	86237773	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	7.039000	0.76544	2.426000	0.82243	0.561000	0.74099	TCG		0.393	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1				8	37	0	0	0	0.004482	0	8	37		
ORC3	23595	broad.mit.edu	37	6	88362934	88362934	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:88362934G>C	ENST00000392844.3	+	14	1531	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	ORC3_ENST00000417380.2_3'UTR|ORC3_ENST00000546266.1_Missense_Mutation_p.E352Q|ORC3_ENST00000257789.4_Missense_Mutation_p.E495Q	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	495					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)	p.E495Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						TAAGAGAATAGAGGAGTTCCT	0.403																																						uc003pmh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1483-1485)GAG>CAG		origin recognition complex, subunit 3 isoform 2							97.0	93.0	94.0					6																	88362934		2203	4300	6503	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88362934G>C	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1483G>C	6.37:g.88362934G>C	ENSP00000376586:p.Glu495Gln					ORC3L_uc011dzl.1_Missense_Mutation_p.E495Q|ORC3L_uc011dzm.1_Missense_Mutation_p.E495Q|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.E495Q|ORC3L_uc003pmi.2_Missense_Mutation_p.E457Q|ORC3L_uc011dzo.1_Missense_Mutation_p.E352Q|ORC3L_uc011dzp.1_Missense_Mutation_p.E352Q	p.E495Q	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	14	1527	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	495					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.1483G>C	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123469	0.37436	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.12672	3.02;3.03;2.66	5.71	1.66	0.24008	.	0.279846	0.39020	N	0.001483	T	0.03178	0.0093	L	0.38175	1.15	0.34368	D	0.691699	B;B;B;B;B	0.19706	0.038;0.038;0.001;0.012;0.02	B;B;B;B;B	0.22386	0.01;0.017;0.006;0.011;0.039	T	0.34925	-0.9809	10	0.18276	T	0.48	-11.5838	7.3254	0.26553	0.1592:0.2629:0.5779:0.0	.	495;495;433;495;495	B7ZAI3;B7Z8A5;B4E014;Q9UBD5;Q9UBD5-2	.;.;.;ORC3_HUMAN;.	Q	495;495;352	ENSP00000376586:E495Q;ENSP00000257789:E495Q;ENSP00000444695:E352Q	ENSP00000257789:E495Q	E	+	1	0	ORC3	88419653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.857000	0.39399	0.723000	0.32274	0.655000	0.94253	GAG		0.403	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2				6	55	0	0	0	0.001984	0	6	55		
BACH2	60468	broad.mit.edu	37	6	90718326	90718326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:90718326C>T	ENST00000257749.4	-	6	945	c.238G>A	c.(238-240)Gag>Aag	p.E80K	BACH2_ENST00000537989.1_Missense_Mutation_p.E80K|BACH2_ENST00000343122.3_Missense_Mutation_p.E80K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.E80K(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGTACCTCCTCAGGCAAGCTG	0.473																																						uc011eab.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(238-240)GAG>AAG		BTB and CNC homology 1, basic leucine zipper							62.0	60.0	61.0					6																	90718326		2203	4300	6503	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90718326C>T	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.238G>A	6.37:g.90718326C>T	ENSP00000257749:p.Glu80Lys					BACH2_uc003pnw.2_Missense_Mutation_p.E80K|BACH2_uc010kch.2_Missense_Mutation_p.E80K	p.E80K	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	6	1047	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	80			BTB.		E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.238G>A	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738018	0.69304	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.64991	1.94;1.94;1.94;-0.13;-0.13	5.33	5.33	0.75918	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.156761	0.56097	D	0.000036	T	0.44871	0.1314	L	0.45581	1.43	0.48511	D	0.99966	B	0.32693	0.38	B	0.26614	0.071	T	0.50381	-0.8835	10	0.46703	T	0.11	-3.5057	19.0228	0.92921	0.0:1.0:0.0:0.0	.	80	Q9BYV9	BACH2_HUMAN	K	80	ENSP00000257749:E80K;ENSP00000437473:E80K;ENSP00000345642:E80K;ENSP00000384145:E80K;ENSP00000397668:E80K	ENSP00000257749:E80K	E	-	1	0	BACH2	90775047	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.596000	0.67570	2.507000	0.84556	0.591000	0.81541	GAG		0.473	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813		6	52	0	0	0	0.001984	0	6	52		
RTN4IP1	84816	broad.mit.edu	37	6	107035677	107035677	+	Silent	SNP	G	G	C	rs576177531		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:107035677G>C	ENST00000369063.3	-	7	1332	c.867C>G	c.(865-867)ctC>ctG	p.L289L	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	289						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.L289L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		ACCATTTCTTGAGAAAATCTG	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22381	0.0		0.0	False		,,,				2504	0.0					uc003prj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(865-867)CTC>CTG		reticulon 4 interacting protein 1 precursor							70.0	66.0	67.0					6																	107035677		2203	4300	6503	SO:0001819	synonymous_variant	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107035677G>C	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.867C>G	6.37:g.107035677G>C						RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Silent_p.L189L	p.L289L	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	7	1344	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	289					Q8N9B3|Q8WZ66|Q9BRA4	Silent	SNP	ENST00000369063.3	37	c.867C>G	CCDS5056.1																																																																																				0.458	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1				7	194	0	0	0	0.001984	0	7	194		
MAP3K5	4217	broad.mit.edu	37	6	136977457	136977457	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:136977457C>G	ENST00000359015.4	-	10	2028	c.1668G>C	c.(1666-1668)gtG>gtC	p.V556V	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	556					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.V556V(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAAACCTAACCACAGTAACAT	0.408																																						uc003qhc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)|lung(1)	5						c.(1666-1668)GTG>GTC		mitogen-activated protein kinase kinase kinase							132.0	123.0	126.0					6																	136977457		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136977457C>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1668G>C	6.37:g.136977457C>G						MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Silent_p.V401V|MAP3K5_uc010kgw.1_Silent_p.V556V	p.V556V	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	10	2029	-	Colorectal(23;0.24)		556					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.1668G>C	CCDS5179.1																																																																																				0.408	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1				9	78	0	0	0	0.006214	0	9	78		
UTRN	7402	broad.mit.edu	37	6	144803392	144803392	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:144803392C>T	ENST00000367545.3	+	26	3555	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1185					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L1185L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAAGATTCTCAAGGACAACA	0.458																																						uc003qkt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|pancreas(1)	5						c.(3553-3555)CTC>CTT		utrophin							134.0	131.0	132.0					6																	144803392		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144803392C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3555C>T	6.37:g.144803392C>T							p.L1185L	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	26	3647	+		Ovarian(120;0.218)	1185			Spectrin 8.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.3555C>T	CCDS34547.1																																																																																				0.458	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				9	37	0	0	0	0.006214	0	9	37		
RMND1	55005	broad.mit.edu	37	6	151742433	151742433	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:151742433C>T	ENST00000367303.4	-	9	1148	c.1026G>A	c.(1024-1026)gtG>gtA	p.V342V	RMND1_ENST00000336451.3_Silent_p.V131V	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	342					translation (GO:0006412)	mitochondrion (GO:0005739)		p.V342V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GAGATAGTTTCACTTTCTTCC	0.328																																						uc003qoi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1024-1026)GTG>GTA		required for meiotic nuclear division 1 homolog							73.0	77.0	76.0					6																	151742433		2202	4300	6502	SO:0001819	synonymous_variant	55005							g.chr6:151742433C>T	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.1026G>A	6.37:g.151742433C>T						RMND1_uc011eeq.1_Silent_p.V131V	p.V342V	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	9	1206	-		Ovarian(120;0.125)	342					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Silent	SNP	ENST00000367303.4	37	c.1026G>A	CCDS5232.1																																																																																				0.328	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2		NM_017909		6	35	0	0	0	0.004482	0	6	35		
CNKSR3	154043	broad.mit.edu	37	6	154771348	154771348	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:154771348C>G	ENST00000607772.1	-	2	641	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	CNKSR3_ENST00000479339.1_5'UTR	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	33	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.E33Q(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTGATCTTCTCTCGTTCAAAC	0.517																																						uc003qpy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)|skin(1)	4						c.(97-99)GAG>CAG		CNKSR family member 3							117.0	111.0	113.0					6																	154771348		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154771348C>G	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.97G>C	6.37:g.154771348C>G	ENSP00000475915:p.Glu33Gln						p.E33Q	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	2	602	-		Ovarian(120;0.196)	33			SAM.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.97G>C	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051767	0.75960	.	.	ENSG00000153721	ENST00000367213	T	0.52295	0.67	6.07	6.07	0.98685	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.123888	0.52532	D	0.000074	T	0.31575	0.0801	L	0.39467	1.215	0.80722	D	1	P	0.39094	0.659	B	0.36567	0.228	T	0.06661	-1.0814	10	0.33940	T	0.23	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	33	Q6P9H4	CNKR3_HUMAN	Q	33	ENSP00000356182:E33Q	ENSP00000356182:E33Q	E	-	1	0	CNKSR3	154813040	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.487000	0.81328	2.890000	0.99128	0.585000	0.79938	GAG		0.517	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2		NM_173515		11	37	0	0	0	0.001368	0	11	37		
QKI	9444	broad.mit.edu	37	6	163899843	163899843	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:163899843G>C	ENST00000361752.3	+	3	868	c.317G>C	c.(316-318)aGa>aCa	p.R106T	QKI_ENST00000453779.2_Missense_Mutation_p.R106T|QKI_ENST00000275262.7_Missense_Mutation_p.R106T|QKI_ENST00000424802.3_Missense_Mutation_p.R106T|QKI_ENST00000392127.2_Missense_Mutation_p.R106T|QKI_ENST00000361195.2_Missense_Mutation_p.R106T	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	106	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R106T(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTTGGACCTAGAGGACTTACA	0.358																																						uc003qui.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(1)|ovary(1)	2						c.(316-318)AGA>ACA		quaking homolog, KH domain RNA binding isoform							78.0	79.0	78.0					6																	163899843		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899843G>C	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.317G>C	6.37:g.163899843G>C	ENSP00000355094:p.Arg106Thr					QKI_uc003que.2_Missense_Mutation_p.R106T|QKI_uc003quf.2_Missense_Mutation_p.R106T|QKI_uc003qug.2_Missense_Mutation_p.R106T|QKI_uc003quh.2_Missense_Mutation_p.R106T|QKI_uc003quj.2_Missense_Mutation_p.R106T	p.R106T	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	868	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	106			KH.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.317G>C	CCDS5285.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878966	0.72294	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802;ENST00000544436;ENST00000537041;ENST00000544823	T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.68	3.91	0.45181	K Homology (1);K Homology, type 1, subgroup (1);	0.100443	0.64402	D	0.000003	T	0.62048	0.2396	H	0.97829	4.085	0.53688	D	0.999976	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.97110	0.976;0.97;1.0;0.998;0.968;0.952	T	0.76236	-0.3033	10	0.87932	D	0	-0.1753	12.6942	0.56994	0.1343:0.0:0.8657:0.0	.	106;106;106;106;106;106	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	T	106;106;106;106;106;106;51;51;51	ENSP00000408775:R106T;ENSP00000275262:R106T;ENSP00000375973:R106T;ENSP00000355094:R106T;ENSP00000354867:R106T;ENSP00000408382:R106T;ENSP00000443690:R51T;ENSP00000440991:R51T;ENSP00000440599:R51T	ENSP00000275262:R106T	R	+	2	0	QKI	163819833	1.000000	0.71417	0.997000	0.53966	0.809000	0.45718	7.638000	0.83328	0.765000	0.33221	-0.194000	0.12790	AGA		0.358	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2		NM_006775		14	68	0	0	0	0.003163	0	14	68		
FRMD1	79981	broad.mit.edu	37	6	168464360	168464360	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:168464360G>C	ENST00000283309.6	-	6	789	c.725C>G	c.(724-726)cCc>cGc	p.P242R	FRMD1_ENST00000440994.2_Missense_Mutation_p.P174R|FRMD1_ENST00000537786.1_Missense_Mutation_p.P13R|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	242	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.P242R(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCTCCTTGGGGCTCAGGCC	0.652																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	uc003qwo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(724-726)CCC>CGC		FERM domain containing 1 isoform 1							84.0	71.0	76.0					6																	168464360		2203	4300	6503	SO:0001583	missense	79981					cytoskeleton	binding	g.chr6:168464360G>C		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.725C>G	6.37:g.168464360G>C	ENSP00000283309:p.Pro242Arg					FRMD1_uc003qwm.3_Missense_Mutation_p.P13R|FRMD1_uc011egs.1_Missense_Mutation_p.P13R|FRMD1_uc011egt.1_Missense_Mutation_p.P154R|FRMD1_uc003qwn.3_Missense_Mutation_p.P174R	p.P242R	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	6	790	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)	242			FERM.		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	ENST00000283309.6	37	c.725C>G	CCDS5306.1	.	.	.	.	.	.	.	.	.	.	G	8.138	0.784548	0.16189	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.77098	-1.07;-1.07;0.95	2.83	2.83	0.33086	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.230415	0.28630	U	0.014664	T	0.46405	0.1391	N	0.21142	0.635	0.09310	N	1	B;B;B;B	0.32968	0.242;0.392;0.203;0.242	B;P;B;B	0.45276	0.16;0.475;0.219;0.16	T	0.52859	-0.8519	10	0.02654	T	1	.	7.9508	0.30014	0.1171:0.0:0.8829:0.0	.	154;242;174;114	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	R	242;174;13	ENSP00000283309:P242R;ENSP00000414115:P174R;ENSP00000440078:P13R	ENSP00000283309:P242R	P	-	2	0	FRMD1	168207209	0.938000	0.31826	0.060000	0.19600	0.295000	0.27426	5.923000	0.70045	1.425000	0.47237	0.305000	0.20034	CCC		0.652	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2		NM_024919		8	24	0	0	0	0.006214	0	8	24		
SMOC2	64094	broad.mit.edu	37	6	169051384	169051384	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr6:169051384G>A	ENST00000356284.2	+	10	1151	c.931G>A	c.(931-933)Gag>Aag	p.E311K	SMOC2_ENST00000354536.5_Missense_Mutation_p.E322K	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	311					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.E322K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CAAAAAGCATGAGTTTCTGAC	0.512																																						uc003qws.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(931-933)GAG>AAG		SPARC related modular calcium binding 2							72.0	58.0	63.0					6																	169051384		2203	4300	6503	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169051384G>A	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.931G>A	6.37:g.169051384G>A	ENSP00000348630:p.Glu311Lys					SMOC2_uc003qwr.1_Missense_Mutation_p.E322K|SMOC2_uc011egu.1_5'UTR	p.E311K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	10	951	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	311					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.931G>A	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551226	0.86127	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.36699	1.25;1.24	4.11	4.11	0.48088	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.144583	0.46442	D	0.000287	T	0.33206	0.0855	N	0.25647	0.755	0.45129	D	0.998145	P;D	0.76494	0.952;0.999	D;D	0.80764	0.953;0.994	T	0.06862	-1.0803	10	0.22109	T	0.4	1.1488	15.7008	0.77541	0.0:0.0:1.0:0.0	.	311;322	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	K	311;322;311	ENSP00000348630:E311K;ENSP00000346537:E322K	ENSP00000346537:E322K	E	+	1	0	SMOC2	168793309	1.000000	0.71417	0.998000	0.56505	0.553000	0.35397	8.941000	0.92964	1.995000	0.58328	0.455000	0.32223	GAG		0.512	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1				7	11	0	0	0	0.001984	0	7	11		
MIOS	54468	broad.mit.edu	37	7	7628157	7628157	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:7628157G>C	ENST00000340080.4	+	8	2268	c.1847G>C	c.(1846-1848)aGa>aCa	p.R616T	MIOS_ENST00000405785.1_Missense_Mutation_p.R616T	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	616						lysosomal membrane (GO:0005765)		p.R616T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTACGTGACAGAGTGGCATTT	0.343																																						uc003srf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1846-1848)AGA>ACA		missing oocyte, meiosis regulator, homolog							99.0	98.0	98.0					7																	7628157		1854	4101	5955	SO:0001583	missense	54468							g.chr7:7628157G>C		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1847G>C	7.37:g.7628157G>C	ENSP00000339881:p.Arg616Thr					MIOS_uc003srg.2_Missense_Mutation_p.R151T|MIOS_uc010ktq.2_Missense_Mutation_p.E14Q	p.R616T	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			8	2155	+			616					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1847G>C	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292445	0.80914	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.66815	-0.23;-0.23	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83814	0.0243	10	0.56958	D	0.05	-20.9955	14.1074	0.65099	0.073:0.0:0.927:0.0	.	616	Q9NXC5	MIO_HUMAN	T	616	ENSP00000339881:R616T;ENSP00000384088:R616T	ENSP00000339881:R616T	R	+	2	0	MIOS	7594682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.501000	0.81600	1.357000	0.45904	0.585000	0.79938	AGA		0.343	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1		NM_019005		13	37	0	0	0	0.006122	0	13	37		
CACNA2D1	781	broad.mit.edu	37	7	82072745	82072745	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:82072745G>C	ENST00000356253.5	-	1	286	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.L11V|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.L11V			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	11					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L11V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAAAGTGTCAGAGTCAAGGCC	0.672																																						uc003uhr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(1)	6						c.(31-33)CTG>GTG		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						48.0	41.0	43.0					7																	82072745		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:82072745G>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.31C>G	7.37:g.82072745G>C	ENSP00000348589:p.Leu11Val						p.L11V	NM_000722	NP_000713	P54289	CA2D1_HUMAN			1	287	-			11					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.31C>G		.	.	.	.	.	.	.	.	.	.	G	22.1	4.249872	0.80024	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.22945	3.25;3.25;1.93	3.86	3.86	0.44501	.	0.000000	0.28821	N	0.014031	T	0.43344	0.1243	L	0.50333	1.59	0.80722	D	1	P	0.49696	0.927	D	0.67725	0.953	T	0.27536	-1.0071	10	0.41790	T	0.15	-3.6329	14.7546	0.69554	0.0:0.0:1.0:0.0	.	11	P54289-2	.	V	11	ENSP00000349320:L11V;ENSP00000348589:L11V;ENSP00000405395:L11V	ENSP00000284088:L11V	L	-	1	2	CACNA2D1	81910681	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.350000	0.66016	1.684000	0.51022	0.313000	0.20887	CTG		0.672	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding					4	26	0	0	0	0.009096	0	4	26		
TAF6	6878	broad.mit.edu	37	7	99707583	99707583	+	Missense_Mutation	SNP	C	C	G	rs145206628		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:99707583C>G	ENST00000344095.4	-	12	1797	c.1272G>C	c.(1270-1272)caG>caC	p.Q424H	TAF6_ENST00000472509.1_Missense_Mutation_p.Q481H|TAF6_ENST00000452041.1_Missense_Mutation_p.Q424H|TAF6_ENST00000453269.2_Missense_Mutation_p.Q424H|TAF6_ENST00000418432.2_Missense_Mutation_p.Q348H|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000437822.2_Missense_Mutation_p.Q461H	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	424					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q424H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGAGGCTCTGCACATGGT	0.572																																						uc003uti.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1270-1272)CAG>CAC		TBP-associated factor 6 isoform alpha							116.0	99.0	105.0					7																	99707583		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99707583C>G		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1272G>C	7.37:g.99707583C>G	ENSP00000344537:p.Gln424His					AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.Q346H|TAF6_uc003uth.2_Missense_Mutation_p.Q481H|TAF6_uc003utk.2_Missense_Mutation_p.Q424H|TAF6_uc011kji.1_Missense_Mutation_p.Q461H|TAF6_uc003utj.2_Missense_Mutation_p.Q414H|TAF6_uc003utl.2_Missense_Mutation_p.Q424H|TAF6_uc003utm.2_Missense_Mutation_p.Q424H	p.Q424H	NM_139315	NP_647476	P49848	TAF6_HUMAN			12	1353	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		424					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1272G>C	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.237613	0.58886	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.49720	0.79;0.77;0.79;0.79;0.78	5.66	3.86	0.44501	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	L	0.59436	1.845	0.46376	D	0.999012	D;D;D;D;D	0.71674	0.997;0.998;0.997;0.997;0.997	P;D;P;P;P	0.64877	0.854;0.93;0.854;0.854;0.854	T	0.56811	-0.7917	10	0.42905	T	0.14	-20.0116	10.5374	0.45013	0.0:0.8421:0.0:0.1579	.	461;424;414;424;348	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	H	424;481;424;424;348;461	ENSP00000389575:Q424H;ENSP00000419760:Q481H;ENSP00000416396:Q424H;ENSP00000344537:Q424H;ENSP00000399982:Q461H	ENSP00000344537:Q424H	Q	-	3	2	TAF6	99545519	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	2.025000	0.41059	0.751000	0.32900	-0.265000	0.10407	CAG		0.572	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2		NM_005641		10	72	0	0	0	0.008291	0	10	72		
PIK3CG	5294	broad.mit.edu	37	7	106509785	106509785	+	Silent	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:106509785T>C	ENST00000359195.3	+	2	2089	c.1779T>C	c.(1777-1779)ttT>ttC	p.F593F	PIK3CG_ENST00000440650.2_Silent_p.F593F|PIK3CG_ENST00000496166.1_Silent_p.F593F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	593	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F593F(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTAAGCTATTTAGTTCAGTGA	0.433																																						uc003vdv.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1777-1779)TTT>TTC		phosphoinositide-3-kinase, catalytic, gamma							107.0	103.0	104.0					7																	106509785		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509785T>C		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1779T>C	7.37:g.106509785T>C						PIK3CG_uc003vdu.2_Silent_p.F593F|PIK3CG_uc003vdw.2_Silent_p.F593F	p.F593F	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1864	+			593					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.1779T>C	CCDS5739.1																																																																																				0.433	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1				27	68	0	0	0	0.009535	0	27	68		
FOXP2	93986	broad.mit.edu	37	7	114304340	114304340	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:114304340G>T	ENST00000393494.2	+	16	2131	c.1852G>T	c.(1852-1854)Gag>Tag	p.E618*	FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E618*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E526*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E635*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.E643*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E597*|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E433*			O15409	FOXP2_HUMAN	forkhead box P2	618					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E643*(1)|p.E643Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TGCCTTGGCAGAGAGCAGTTT	0.388																																						uc003vhb.2		NaN																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		urinary_tract(1)|lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1852-1854)GAG>TAG		forkhead box P2 isoform I							75.0	67.0	70.0					7																	114304340		2203	4300	6503	SO:0001587	stop_gained	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114304340G>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1852G>T	7.37:g.114304340G>T	ENSP00000377132:p.Glu618*					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Nonsense_Mutation_p.E643*|FOXP2_uc003vha.2_Nonsense_Mutation_p.E526*|FOXP2_uc011kmu.1_Nonsense_Mutation_p.E635*|FOXP2_uc011kmv.1_Nonsense_Mutation_p.E617*|FOXP2_uc010ljz.1_Nonsense_Mutation_p.E433*	p.E618*	NM_014491	NP_055306	O15409	FOXP2_HUMAN			16	2226	+			618					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Nonsense_Mutation	SNP	ENST00000393494.2	37	c.1852G>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	40	8.523058	0.98848	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	.	.	.	5.68	5.68	0.88126	.	0.097542	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8002	0.96504	0.0:0.0:1.0:0.0	.	.	.	.	X	618;643;635;618;595;526;433	.	ENSP00000265436:E618X	E	+	1	0	FOXP2	114091576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.674000	0.91012	0.655000	0.94253	GAG		0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1		NM_014491		7	16	1	0	0.000274275	0.004482	0.000281203	7	16		
MET	4233	broad.mit.edu	37	7	116409824	116409824	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:116409824G>C	ENST00000318493.6	+	12	2950	c.2763G>C	c.(2761-2763)ttG>ttC	p.L921F	MET_ENST00000397752.3_Missense_Mutation_p.L903F			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)	p.L921F(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCTGAAATTGAACAGCGAGC	0.373			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2		NaN		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(2707-2709)TTG>TTC		met proto-oncogene isoform b precursor							106.0	101.0	103.0					7																	116409824		1846	4089	5935	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116409824G>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2763G>C	7.37:g.116409824G>C	ENSP00000317272:p.Leu921Phe					MET_uc010lkh.2_Missense_Mutation_p.L921F|MET_uc011knj.1_Missense_Mutation_p.L473F	p.L903F	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		12	2896	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	903			Extracellular (Potential).		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.2709G>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514754	0.64634	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000422097;ENST00000454623	T;T	0.73469	-0.75;-0.75	5.4	5.4	0.78164	Cell surface receptor IPT/TIG (1);	0.522192	0.19933	N	0.102804	T	0.78071	0.4226	M	0.65975	2.015	0.80722	D	1	P;P	0.47302	0.887;0.893	P;P	0.48227	0.571;0.486	T	0.79605	-0.1734	10	0.56958	D	0.05	.	14.1132	0.65137	0.0:0.268:0.732:0.0	.	921;903	P08581-2;P08581	.;MET_HUMAN	F	903;921;183;35	ENSP00000380860:L903F;ENSP00000317272:L921F	ENSP00000317272:L921F	L	+	3	2	MET	116197060	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.336000	0.52113	2.691000	0.91804	0.557000	0.71058	TTG		0.373	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3				5	26	0	0	0	0.000602	0	5	26		
MET	4233	broad.mit.edu	37	7	116436028	116436028	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:116436028C>T	ENST00000318493.6	+	21	4264	c.4077C>T	c.(4075-4077)ttC>ttT	p.F1359F	MET_ENST00000539704.1_Silent_p.F211F|MET_ENST00000397752.3_Silent_p.F1341F			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					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)	p.F1359F(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGCGATCTTCTCTACTTTCA	0.443			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													uc003vij.2		NaN		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(4021-4023)TTC>TTT		met proto-oncogene isoform b precursor							143.0	132.0	136.0					7																	116436028		1974	4142	6116	SO:0001819	synonymous_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116436028C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4077C>T	7.37:g.116436028C>T						MET_uc010lkh.2_Silent_p.F1359F|MET_uc011knj.1_Silent_p.F911F	p.F1341F	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		21	4210	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1341			Protein kinase.|Interaction with MUC20.|Interaction with RANBP9.|Cytoplasmic (Potential).		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.4023C>T	CCDS47689.1																																																																																				0.443	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3				18	75	0	0	0	0.00499	0	18	75		
TTC26	79989	broad.mit.edu	37	7	138863036	138863036	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:138863036C>G	ENST00000464848.1	+	13	1226	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	TTC26_ENST00000430935.1_Silent_p.L382L|TTC26_ENST00000495038.1_Silent_p.L251L|TTC26_ENST00000478836.2_Silent_p.L275L|TTC26_ENST00000343187.4_Silent_p.L351L			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	382					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)		p.L382L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TGATTTACCTCAACTCATTTA	0.373																																						uc003vus.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1144-1146)CTC>CTG		tetratricopeptide repeat domain 26 isoform 1							96.0	87.0	90.0					7																	138863036		2203	4300	6503	SO:0001819	synonymous_variant	79989						binding	g.chr7:138863036C>G	AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.1146C>G	7.37:g.138863036C>G						TTC26_uc011kqn.1_Silent_p.L382L|TTC26_uc011kqo.1_Silent_p.L351L|TTC26_uc011kqp.1_Silent_p.L277L|TTC26_uc003vut.2_Silent_p.L242L|TTC26_uc011kqq.1_Silent_p.L251L	p.L382L	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN			13	1260	+			382					A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Silent	SNP	ENST00000464848.1	37	c.1146C>G	CCDS5852.1																																																																																				0.373	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348919.2		NM_024926		10	55	0	0	0	0.006214	0	10	55		
CNTNAP2	26047	broad.mit.edu	37	7	147183114	147183114	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:147183114T>G	ENST00000361727.3	+	11	2274	c.1758T>G	c.(1756-1758)agT>agG	p.S586R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	586	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.S586R(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGGATACAGTGGGGCCACCT	0.468										HNSCC(39;0.1)																												uc003weu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1756-1758)AGT>AGG		cell recognition molecule Caspr2 precursor							106.0	97.0	100.0					7																	147183114		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147183114T>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1758T>G	7.37:g.147183114T>G	ENSP00000354778:p.Ser586Arg	HNSCC(39;0.1)					p.S586R	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		11	2274	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	586			EGF-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1758T>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.391690	0.42410	.	.	ENSG00000174469	ENST00000361727	D	0.93488	-3.23	5.89	-2.21	0.06973	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.228496	0.35495	N	0.003176	D	0.87912	0.6297	L	0.52011	1.625	0.80722	D	1	P	0.34864	0.473	B	0.41135	0.348	T	0.75693	-0.3229	10	0.16896	T	0.51	.	3.7588	0.08596	0.1095:0.441:0.1104:0.3392	.	586	Q9UHC6	CNTP2_HUMAN	R	586	ENSP00000354778:S586R	ENSP00000354778:S586R	S	+	3	2	CNTNAP2	146814047	0.060000	0.20803	0.985000	0.45067	0.964000	0.63967	-0.689000	0.05144	-0.263000	0.09378	-0.899000	0.02877	AGT		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1				6	49	0	0	0	0.003163	0	6	49		
KMT2C	58508	broad.mit.edu	37	7	151927069	151927069	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:151927069C>T	ENST00000262189.6	-	18	3133	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	KMT2C_ENST00000355193.2_Missense_Mutation_p.G972E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	972					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G972E(4)									AAGTAATCTTCCTTCTGCTCC	0.353																																						uc003wla.2		NaN								N							medulloblastoma		4	Substitution - Missense(4)		urinary_tract(2)|NS(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2914-2916)GGA>GAA		myeloid/lymphoid or mixed-lineage leukemia 3							63.0	52.0	56.0					7																	151927069		2199	4278	6477	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151927069C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2915G>A	7.37:g.151927069C>T	ENSP00000262189:p.Gly972Glu					MLL3_uc003wkz.2_Missense_Mutation_p.G33E	p.G972E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	18	3134	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	972			PHD-type 4.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2915G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572824	0.65765	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.88277	-2.36;-2.36	4.67	4.67	0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.40469	U	0.001093	D	0.93993	0.8076	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94782	0.7954	10	0.87932	D	0	.	17.9348	0.89009	0.0:1.0:0.0:0.0	.	972;33	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	E	972	ENSP00000262189:G972E;ENSP00000347325:G972E	ENSP00000262189:G972E	G	-	2	0	MLL3	151558002	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.770000	0.85390	2.303000	0.77524	0.460000	0.39030	GGA		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				10	165	0	0	0	0.008871	0	10	165		
PSD3	23362	broad.mit.edu	37	8	18622977	18622977	+	Silent	SNP	G	G	A	rs139539737	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:18622977G>A	ENST00000327040.8	-	9	2256	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	PSD3_ENST00000286485.8_Silent_p.F184F|PSD3_ENST00000523619.1_Silent_p.F653F|PSD3_ENST00000440756.2_Silent_p.F720F	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	719	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.F184F(1)|p.F720F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GATCCTTGGAGAAATCAACAC	0.393													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19026	0.0		0.0	False		,,,				2504	0.0					uc003wza.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)	3						c.(2152-2154)TTC>TTT		ADP-ribosylation factor guanine nucleotide		G	,	7,4399	12.9+/-30.5	0,7,2196	191.0	172.0	178.0		2154,552	1.3	1.0	8	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PSD3	NM_015310.3,NM_206909.2	,	0,8,6495	AA,AG,GG		0.0116,0.1589,0.0615	,	718/1048,184/514	18622977	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18622977G>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2154C>T	8.37:g.18622977G>A						PSD3_uc003wyy.2_Silent_p.F184F|PSD3_uc003wyz.2_Silent_p.F19F	p.F718F	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	9	2257	-			719			SEC7.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.2154C>T	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816114	0.16607	0.001589	1.16E-4	ENSG00000156011	ENST00000520858	.	.	.	5.67	1.34	0.21922	.	.	.	.	.	T	0.58395	0.2119	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52675	-0.8544	4	.	.	.	.	10.1071	0.42539	0.3349:0.0:0.6651:0.0	.	.	.	.	F	151	.	.	L	-	1	0	PSD3	18667257	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	1.724000	0.38064	0.340000	0.23745	-0.237000	0.12165	CTC		0.393	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310		17	83	0	0	0	0.008871	0	17	83		
DMTN	2039	broad.mit.edu	37	8	21926966	21926966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:21926966C>T	ENST00000523266.1	+	6	793	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	DMTN_ENST00000358242.3_Nonsense_Mutation_p.Q111*|DMTN_ENST00000381470.3_Nonsense_Mutation_p.Q111*|DMTN_ENST00000523782.2_Nonsense_Mutation_p.Q86*|DMTN_ENST00000517600.1_Nonsense_Mutation_p.Q71*|DMTN_ENST00000443491.2_Nonsense_Mutation_p.Q86*|DMTN_ENST00000519907.1_Nonsense_Mutation_p.Q111*|DMTN_ENST00000432128.1_Nonsense_Mutation_p.Q111*|DMTN_ENST00000415253.1_Nonsense_Mutation_p.Q111*|DMTN_ENST00000265800.5_Nonsense_Mutation_p.Q111*	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	111					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)	p.Q111*(1)									AATCATCTCTCAGGCCTCGGC	0.632																																						uc011kyt.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(331-333)CAG>TAG		erythrocyte membrane protein band 4.9 isoform 1							57.0	59.0	58.0					8																	21926966		2203	4300	6503	SO:0001587	stop_gained	2039				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding	g.chr8:21926966C>T	U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.331C>T	8.37:g.21926966C>T	ENSP00000427866:p.Gln111*					EPB49_uc010ltl.2_Nonsense_Mutation_p.Q111*|EPB49_uc011kys.1_Nonsense_Mutation_p.Q71*|EPB49_uc010ltn.2_Nonsense_Mutation_p.Q86*|EPB49_uc011kyu.1_Nonsense_Mutation_p.Q111*|EPB49_uc011kyv.1_Nonsense_Mutation_p.Q111*|EPB49_uc010ltq.2_Nonsense_Mutation_p.Q111*	p.Q111*	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN		Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)	6	560	+			111					A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Nonsense_Mutation	SNP	ENST00000523266.1	37	c.331C>T	CCDS6020.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958424	0.53400	.	.	ENSG00000158856	ENST00000523300;ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000523623;ENST00000520174;ENST00000517804;ENST00000265800;ENST00000381455;ENST00000517418;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	.	.	.	4.7	4.7	0.59300	.	0.793942	0.11605	N	0.547389	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	13.0621	0.59012	0.0:1.0:0.0:0.0	.	.	.	.	X	86;111;111;86;71;71;86;86;111;111;50;111;111;111;111;111	.	ENSP00000265800:Q111X	Q	+	1	0	EPB49	21982912	1.000000	0.71417	0.998000	0.56505	0.048000	0.14542	3.690000	0.54713	2.472000	0.83506	0.650000	0.86243	CAG		0.632	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375178.1		NM_001978		14	22	0	0	0	0.00245	0	14	22		
CHMP7	91782	broad.mit.edu	37	8	23112846	23112846	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:23112846C>T	ENST00000397677.1	+	4	1206	c.558C>T	c.(556-558)ctC>ctT	p.L186L	CHMP7_ENST00000313219.7_Silent_p.L186L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	186					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)	p.L186L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCAGCACCCTCTGTGCTAACT	0.582																																						uc003xdc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(556-558)CTC>CTT		CHMP family, member 7							95.0	88.0	90.0					8																	23112846		2203	4300	6503	SO:0001819	synonymous_variant	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23112846C>T	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.558C>T	8.37:g.23112846C>T						CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.L76L|CHMP7_uc003xde.2_Silent_p.L44L	p.L186L	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	1206	+		Prostate(55;0.0513)	186					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	c.558C>T	CCDS6040.1																																																																																				0.582	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1		NM_152272		18	21	0	0	0	0.006122	0	18	21		
CYP7A1	1581	broad.mit.edu	37	8	59409297	59409297	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:59409297G>C	ENST00000301645.3	-	3	911	c.774C>G	c.(772-774)agC>agG	p.S258R		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	258					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)	p.S258R(1)		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)				ACATGCGCAGGCTGATCAGTT	0.517									Neonatal Giant Cell Hepatitis																													uc003xtm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(772-774)AGC>AGG		cytochrome P450, family 7, subfamily A,							221.0	222.0	222.0					8																	59409297		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.chr8:59409297G>C	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.774C>G	8.37:g.59409297G>C	ENSP00000301645:p.Ser258Arg						p.S258R	NM_000780	NP_000771	P22680	CP7A1_HUMAN			3	837	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	258					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.774C>G	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.886182	0.00527	.	.	ENSG00000167910	ENST00000301645	T	0.14391	2.51	4.16	-3.1	0.05315	.	0.492640	0.24978	N	0.034095	T	0.04003	0.0112	N	0.08118	0	0.23386	N	0.997783	B	0.09022	0.002	B	0.10450	0.005	T	0.35201	-0.9798	10	0.13108	T	0.6	-3.7575	2.5028	0.04638	0.3197:0.2783:0.3054:0.0965	.	258	P22680	CP7A1_HUMAN	R	258	ENSP00000301645:S258R	ENSP00000301645:S258R	S	-	3	2	CYP7A1	59571851	0.333000	0.24731	0.964000	0.40570	0.002000	0.02628	-0.378000	0.07446	-0.637000	0.05516	-2.576000	0.00170	AGC		0.517	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1		NM_000780		12	177	0	0	0	0.001368	0	12	177		
MTFR1	9650	broad.mit.edu	37	8	66619459	66619459	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:66619459G>A	ENST00000262146.4	+	6	858	c.732G>A	c.(730-732)gaG>gaA	p.E244E	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.E211E	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	244	Necessary and sufficient to promote mitochondrial fission. {ECO:0000250}.				aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)		p.E244E(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TCCTTAAAGAGATGAACAGTG	0.378																																						uc003xvm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(730-732)GAG>GAA		mitochondrial fission regulator 1 isoform 1							91.0	88.0	89.0					8																	66619459		2203	4300	6503	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66619459G>A		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.732G>A	8.37:g.66619459G>A						MTFR1_uc011lep.1_Silent_p.E244E|MTFR1_uc003xvn.2_Silent_p.E211E|MTFR1_uc003xvo.1_Silent_p.E234E	p.E244E	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		6	944	+			244					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.732G>A	CCDS6182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.402|9.402	1.078372|1.078372	0.20227|0.20227	.|.	.|.	ENSG00000066855|ENSG00000066855	ENST00000527155|ENST00000518800	.|.	.|.	.|.	5.37|5.37	-3.16|-3.16	0.05217|0.05217	.|.	.|.	.|.	.|.	.|.	T|T	0.55000|0.55000	0.1893|0.1893	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53373|0.53373	-0.8448|-0.8448	4|4	.|.	.|.	.|.	-0.9876|-0.9876	10.6639|10.6639	0.45719|0.45719	0.0:0.6452:0.1172:0.2376|0.0:0.6452:0.1172:0.2376	.|.	.|.	.|.	.|.	N|K	58|202	.|.	.|.	D|R	+|+	1|2	0|0	MTFR1|MTFR1	66782013|66782013	0.810000|0.810000	0.29049|0.29049	0.988000|0.988000	0.46212|0.46212	0.993000|0.993000	0.82548|0.82548	-0.129000|-0.129000	0.10515|0.10515	-0.554000|-0.554000	0.06150|0.06150	-0.375000|-0.375000	0.07067|0.07067	GAT|AGA		0.378	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1		NM_014637		6	83	0	0	0	0.001168	0	6	83		
CRISPLD1	83690	broad.mit.edu	37	8	75941732	75941732	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:75941732G>C	ENST00000262207.4	+	14	1899	c.1431G>C	c.(1429-1431)caG>caC	p.Q477H	RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.Q291H|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.Q289H	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	477	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.Q477H(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTCTTTTCAGAATGGAATCT	0.373																																						uc003yan.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1429-1431)CAG>CAC		cysteine-rich secretory protein LCCL domain							89.0	87.0	88.0					8																	75941732		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75941732G>C	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1431G>C	8.37:g.75941732G>C	ENSP00000262207:p.Gln477His					CRISPLD1_uc011lfk.1_Missense_Mutation_p.Q289H|CRISPLD1_uc011lfl.1_Missense_Mutation_p.Q289H	p.Q477H	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		14	1806	+	Breast(64;0.0799)		477			LCCL 2.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1431G>C	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884714	0.72410	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89939	-2.59;-2.59;-2.59	5.53	5.53	0.82687	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.92264	0.7546	M	0.74546	2.27	0.54753	D	0.999989	D;D	0.59767	0.979;0.986	P;D	0.65573	0.771;0.936	D	0.91735	0.5399	10	0.66056	D	0.02	.	6.6788	0.23110	0.1992:0.0:0.8008:0.0	.	291;477	B7Z929;Q9H336	.;CRLD1_HUMAN	H	477;289;291	ENSP00000262207:Q477H;ENSP00000430105:Q289H;ENSP00000429746:Q291H	ENSP00000262207:Q477H	Q	+	3	2	CRISPLD1	76104287	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	0.452000	0.21795	2.882000	0.98803	0.655000	0.94253	CAG		0.373	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1		NM_031461		4	30	0	0	0	0.001168	0	4	30		
PSKH2	85481	broad.mit.edu	37	8	87076269	87076269	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:87076269G>C	ENST00000276616.2	-	2	851	c.777C>G	c.(775-777)ttC>ttG	p.F259L	PSKH2_ENST00000517981.1_5'Flank	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.F259L(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CAAAAGGCAGGAATCCGCTAA	0.408																																						uc011lfy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	stomach(2)|lung(2)|ovary(1)	5						c.(775-777)TTC>TTG		protein serine kinase H2							81.0	80.0	80.0					8																	87076269		2203	4300	6503	SO:0001583	missense	85481						ATP binding|protein serine/threonine kinase activity	g.chr8:87076269G>C	AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.777C>G	8.37:g.87076269G>C	ENSP00000276616:p.Phe259Leu						p.F259L	NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	STAD - Stomach adenocarcinoma(118;0.129)		2	777	-			259			Protein kinase.		A0AV22	Missense_Mutation	SNP	ENST00000276616.2	37	c.777C>G	CCDS6240.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332184	0.41297	.	.	ENSG00000147613	ENST00000276616	T	0.64803	-0.12	4.98	0.925	0.19424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.42291	0.1196	N	0.16233	0.39	0.25973	N	0.982479	B	0.16166	0.016	B	0.19666	0.026	T	0.36016	-0.9765	9	0.72032	D	0.01	.	5.0201	0.14356	0.272:0.1557:0.5723:0.0	.	259	Q96QS6	KPSH2_HUMAN	L	259	ENSP00000276616:F259L	ENSP00000276616:F259L	F	-	3	2	PSKH2	87145385	0.975000	0.34042	0.950000	0.38849	0.938000	0.57974	0.089000	0.15002	0.148000	0.19059	0.655000	0.94253	TTC		0.408	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1		NM_033126		10	58	0	0	0	0.006214	0	10	58		
ZFPM2	23414	broad.mit.edu	37	8	106814193	106814193	+	Missense_Mutation	SNP	C	C	G	rs373978860		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:106814193C>G	ENST00000407775.2	+	8	2133	c.1883C>G	c.(1882-1884)tCt>tGt	p.S628C	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S496C|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S359C|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S496C|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	628					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S628C(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGCATCAATTCTTCCACTGTC	0.448																																						uc003ymd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(1)	5						c.(1882-1884)TCT>TGT		zinc finger protein, multitype 2							83.0	78.0	80.0					8																	106814193		1891	4139	6030	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106814193C>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1883C>G	8.37:g.106814193C>G	ENSP00000384179:p.Ser628Cys					ZFPM2_uc011lhs.1_Missense_Mutation_p.S359C	p.S628C	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1906	+			628					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1883C>G	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816241	0.70912	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.26660	1.72;2.15;2.15;3.36	5.86	5.86	0.93980	.	0.182095	0.49916	D	0.000124	T	0.41581	0.1165	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	T	0.15954	-1.0419	10	0.72032	D	0.01	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	628	Q8WW38	FOG2_HUMAN	C	628;496;496;359	ENSP00000384179:S628C;ENSP00000430757:S496C;ENSP00000428720:S496C;ENSP00000367733:S359C	ENSP00000367733:S359C	S	+	2	0	ZFPM2	106883369	1.000000	0.71417	0.968000	0.41197	0.990000	0.78478	5.359000	0.66074	2.777000	0.95525	0.655000	0.94253	TCT		0.448	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1				18	33	0	0	0	0.006122	0	18	33		
SYBU	55638	broad.mit.edu	37	8	110587905	110587905	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:110587905C>G	ENST00000422135.1	-	8	1737	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	SYBU_ENST00000533895.1_Missense_Mutation_p.D407H|SYBU_ENST00000433638.1_Missense_Mutation_p.D408H|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000446070.2_Missense_Mutation_p.D407H|SYBU_ENST00000529175.1_Missense_Mutation_p.D202H|SYBU_ENST00000440310.1_Missense_Mutation_p.D408H|SYBU_ENST00000424158.2_Missense_Mutation_p.D413H|SYBU_ENST00000528331.1_Missense_Mutation_p.D289H|SYBU_ENST00000419099.1_Missense_Mutation_p.D407H|SYBU_ENST00000408889.3_Missense_Mutation_p.D289H|SYBU_ENST00000399066.3_Missense_Mutation_p.D405H|SYBU_ENST00000532779.1_Missense_Mutation_p.D340H|SYBU_ENST00000529690.1_Missense_Mutation_p.D278H|SYBU_ENST00000533171.1_Missense_Mutation_p.D408H|SYBU_ENST00000408908.2_Missense_Mutation_p.D408H|SYBU_ENST00000276646.9_Missense_Mutation_p.D408H|SYBU_ENST00000533065.1_Missense_Mutation_p.D289H|SYBU_ENST00000528647.1_Missense_Mutation_p.D407H	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	408	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D405H(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCCATTGTGTCAAGAGGGGGG	0.537																																						uc003ynj.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1222-1224)GAC>CAC		Golgi-localized syntaphilin-related protein							94.0	94.0	94.0					8																	110587905		1937	4141	6078	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110587905C>G	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1222G>C	8.37:g.110587905C>G	ENSP00000407118:p.Asp408His					SYBU_uc003yni.3_Missense_Mutation_p.D405H|SYBU_uc003ynk.3_Missense_Mutation_p.D289H|SYBU_uc010mco.2_Missense_Mutation_p.D407H|SYBU_uc003ynl.3_Missense_Mutation_p.D407H|SYBU_uc010mcp.2_Missense_Mutation_p.D408H|SYBU_uc010mcq.2_Missense_Mutation_p.D408H|SYBU_uc003yno.3_Missense_Mutation_p.D289H|SYBU_uc010mcr.2_Missense_Mutation_p.D408H|SYBU_uc003ynm.3_Missense_Mutation_p.D407H|SYBU_uc003ynn.3_Missense_Mutation_p.D407H|SYBU_uc010mcs.2_Missense_Mutation_p.D289H|SYBU_uc010mct.2_Missense_Mutation_p.D408H|SYBU_uc010mcu.2_Missense_Mutation_p.D407H|SYBU_uc003ynp.3_Missense_Mutation_p.D340H|SYBU_uc010mcv.2_Missense_Mutation_p.D408H|SYBU_uc003ynh.3_Missense_Mutation_p.D202H|SYBU_uc011lhw.1_Missense_Mutation_p.D278H	p.D408H	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			7	1385	-			408			Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.1222G>C	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	9.563	1.118991	0.20877	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.89	5.01	0.66863	.	0.686003	0.15751	N	0.246434	T	0.43411	0.1246	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P	0.48016	0.904;0.786;0.759;0.786;0.786	P;P;P;B;B	0.49953	0.563;0.513;0.627;0.439;0.439	T	0.31613	-0.9937	9	0.54805	T	0.06	-5.16	13.5497	0.61726	0.0:0.9257:0.0:0.0743	.	278;340;407;408;405	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	H	407;413;340;405;407;289;202;408;407;408;407;408;408;408;289;289;278;408	.	ENSP00000276646:D408H	D	-	1	0	SYBU	110657081	0.006000	0.16342	0.008000	0.14137	0.106000	0.19336	1.079000	0.30766	2.791000	0.96007	0.591000	0.81541	GAC		0.537	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1		NM_017786		9	77	0	0	0	0.010729	0	9	77		
EXT1	2131	broad.mit.edu	37	8	119122991	119122991	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:119122991G>A	ENST00000378204.2	-	1	1101	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	99					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.R99C(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACTCCATGCGGCACTTCTTG	0.498			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1		NaN	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)	4						c.(295-297)CGC>TGC		exostosin 1							75.0	73.0	74.0					8																	119122991		2203	4300	6503	SO:0001583	missense	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119122991G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.295C>T	8.37:g.119122991G>A	ENSP00000367446:p.Arg99Cys						p.R99C	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	1068	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		99			Lumenal (Potential).		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.295C>T	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474439	0.63737	.	.	ENSG00000182197	ENST00000378204	D	0.96940	-4.18	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	D	0.97676	0.9238	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	D	0.98278	1.0507	10	0.72032	D	0.01	-1.7976	17.5023	0.87735	0.0:0.0:1.0:0.0	.	99	Q16394	EXT1_HUMAN	C	99	ENSP00000367446:R99C	ENSP00000367446:R99C	R	-	1	0	EXT1	119192172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.551000	0.60740	2.558000	0.86282	0.462000	0.41574	CGC		0.498	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3		NM_000127		13	71	0	0	0	0.001855	0	13	71		
TRIB1	10221	broad.mit.edu	37	8	126448548	126448548	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:126448548C>G	ENST00000519576.1	+	2	524	c.261C>G	c.(259-261)ctC>ctG	p.L87L	TRIB1_ENST00000520847.1_Silent_p.L152L|TRIB1_ENST00000311922.3_Silent_p.L318L					tribbles pseudokinase 1									p.L318L(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TTCGCAGCCTCTTGAGACGGG	0.562																																						uc003yrx.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(1)	1						c.(952-954)CTC>CTG		G-protein-coupled receptor induced protein							95.0	95.0	95.0					8																	126448548		2203	4300	6503	SO:0001819	synonymous_variant	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126448548C>G	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000519576.1:c.261C>G	8.37:g.126448548C>G						TRIB1_uc011lis.1_Silent_p.L152L|TRIB1_uc010mdn.2_Silent_p.L87L	p.L318L	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		3	1536	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		318			Protein kinase.			Silent	SNP	ENST00000519576.1	37	c.954C>G																																																																																					0.562	TRIB1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381433.1		NM_025195		7	94	0	0	0	0.001984	0	7	94		
MYC	4609	broad.mit.edu	37	8	128750661	128750661	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:128750661G>A	ENST00000259523.6	+	2	1358	c.153G>A	c.(151-153)aaG>aaA	p.K51K	MYC_ENST00000524013.1_Silent_p.K65K|MYC_ENST00000377970.2_Silent_p.K66K			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	51					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.K51K(1)|p.K66K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ATATCTGGAAGAAATTCGAGC	0.657		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ysh.1		3		Dom	yes		8	8q24.12-q24.13	4609	A|T	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@		Burkitt lymphoma| amplified in other cancers|B-CLL		2	Substitution - coding silent(2)		urinary_tract(2)	lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6						c.(151-153)AAG>AAA		myc proto-oncogene protein							23.0	27.0	25.0					8																	128750661		2203	4300	6503	SO:0001819	synonymous_variant	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750661G>A		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.153G>A	8.37:g.128750661G>A			OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_uc003ysi.2_Silent_p.K66K	p.K51K	NM_002467	NP_002458	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	3	666	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	51					A8WFE7|P01107|Q14026	Silent	SNP	ENST00000259523.6	37	c.153G>A		.	.	.	.	.	.	.	.	.	.	G	14.78	2.636422	0.47049	.	.	ENSG00000136997	ENST00000520751	.	.	.	4.78	3.9	0.45041	.	.	.	.	.	T	0.63390	0.2507	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62215	-0.6901	4	.	.	.	-37.8216	12.5153	0.56028	0.0809:0.0:0.9191:0.0	.	.	.	.	K	40	.	.	R	+	2	0	MYC	128819843	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.590000	0.61013	1.386000	0.46466	-0.258000	0.10820	AGA		0.657	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1				4	36	0	0	0	0.009096	0	4	36		
PTK2	5747	broad.mit.edu	37	8	141856744	141856744	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:141856744G>C	ENST00000522684.1	-	6	713	c.484C>G	c.(484-486)Caa>Gaa	p.Q162E	PTK2_ENST00000395218.2_Missense_Mutation_p.Q162E|PTK2_ENST00000340930.3_Missense_Mutation_p.Q162E|PTK2_ENST00000521059.1_Missense_Mutation_p.Q162E|PTK2_ENST00000519419.1_Missense_Mutation_p.Q206E|PTK2_ENST00000517887.1_Missense_Mutation_p.Q206E|PTK2_ENST00000535192.1_Missense_Mutation_p.Q162E	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	162	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.Q162E(1)|p.Q72E(1)|p.Q184E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGTCCACTTGATCAGCTATC	0.303																																						uc003yvu.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(484-486)CAA>GAA		PTK2 protein tyrosine kinase 2 isoform a							100.0	97.0	98.0					8																	141856744		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141856744G>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.484C>G	8.37:g.141856744G>C	ENSP00000429911:p.Gln162Glu					PTK2_uc003yvq.2_5'Flank|PTK2_uc003yvr.2_Missense_Mutation_p.Q61E|PTK2_uc003yvs.2_Missense_Mutation_p.Q162E|PTK2_uc003yvt.2_Missense_Mutation_p.Q184E|PTK2_uc003yvv.2_Missense_Mutation_p.Q49E|PTK2_uc011ljr.1_Missense_Mutation_p.Q162E	p.Q162E	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		6	714	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	162			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.484C>G	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.74|18.74	3.688020|3.688020	0.68271|0.68271	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000524357|ENST00000519654	T;T;T;T;T;T;T;T|.	0.75704|.	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;1.05|.	5.45|5.45	5.45|5.45	0.79879|0.79879	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);|.	0.049402|.	0.85682|.	D|.	0.000000|.	T|.	0.67878|.	0.2940|.	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.21147|.	0.052;0.004;0.026;0.001;0.012;0.004|.	B;B;B;B;B;B|.	0.25759|.	0.063;0.018;0.031;0.011;0.046;0.018|.	T|.	0.63537|.	-0.6615|.	10|.	0.19590|.	T|.	0.45|.	.|.	18.8963|18.8963	0.92424|0.92424	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	162;69;162;184;162;73|.	B4E2N6;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6|.	.;.;FAK1_HUMAN;.;.;.|.	E|X	162;162;206;162;72;162;69;162;206;77|172	ENSP00000429911:Q162E;ENSP00000438009:Q162E;ENSP00000429082:Q206E;ENSP00000429474:Q162E;ENSP00000378644:Q162E;ENSP00000341189:Q162E;ENSP00000429129:Q206E;ENSP00000429001:Q77E|.	ENSP00000341189:Q162E|.	Q|S	-|-	1|2	0|0	PTK2|PTK2	141925926|141925926	1.000000|1.000000	0.71417|0.71417	0.788000|0.788000	0.31933|0.31933	0.998000|0.998000	0.95712|0.95712	8.370000|8.370000	0.90120|0.90120	2.552000|2.552000	0.86080|0.86080	0.555000|0.555000	0.69702|0.69702	CAA|TCA		0.303	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5		NM_005607		4	46	0	0	0	0.009096	0	4	46		
EPPK1	83481	broad.mit.edu	37	8	144943483	144943483	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr8:144943483C>G	ENST00000525985.1	-	2	4010	c.3939G>C	c.(3937-3939)ctG>ctC	p.L1313L				P58107	EPIPL_HUMAN	epiplakin 1	1313						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L1313L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGCTCACTCAGCTCCCTGC	0.652																																						uc003zaa.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(3937-3939)CTG>CTC		epiplakin 1							54.0	62.0	59.0					8																	144943483		1983	4136	6119	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943483C>G	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3939G>C	8.37:g.144943483C>G							p.L1313L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	3952	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1313			Plectin 22.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.3939G>C																																																																																					0.652	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1		NM_031308		21	74	0	0	0	0.003954	0	21	74		
DOCK8	81704	broad.mit.edu	37	9	422095	422095	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:422095G>C	ENST00000453981.1	+	33	4313	c.4201G>C	c.(4201-4203)Gag>Cag	p.E1401Q	DOCK8_ENST00000382329.1_Missense_Mutation_p.E868Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1333Q|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1301Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1401					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1333Q(1)|p.E1401Q(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGAAGAAAGAGCAGACACA	0.413																																						uc003zgf.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|central_nervous_system(3)	6						c.(4201-4203)GAG>CAG		dedicator of cytokinesis 8							90.0	88.0	88.0					9																	422095		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:422095G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4201G>C	9.37:g.422095G>C	ENSP00000408464:p.Glu1401Gln					DOCK8_uc010mgu.2_Missense_Mutation_p.E703Q|DOCK8_uc010mgv.2_Missense_Mutation_p.E1301Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E859Q	p.E1401Q	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	33	4313	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1401			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.4201G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	32	5.136348	0.94517	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.01854	4.6;4.6;4.6;4.6	5.95	5.95	0.96441	.	0.045173	0.85682	D	0.000000	T	0.07234	0.0183	L	0.57536	1.79	0.80722	D	1	P;B;B	0.43857	0.819;0.054;0.428	P;B;B	0.49597	0.616;0.065;0.146	T	0.47182	-0.9137	10	0.22706	T	0.39	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	1301;868;1401	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	Q	1401;1369;1333;1301;868	ENSP00000408464:E1401Q;ENSP00000394888:E1333Q;ENSP00000419438:E1301Q;ENSP00000371766:E868Q	ENSP00000287364:E1369Q	E	+	1	0	DOCK8	412095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.335000	0.96500	2.827000	0.97445	0.650000	0.86243	GAG		0.413	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		3	38	0	0	0	0.009096	0	3	38		
RPS6	6194	broad.mit.edu	37	9	19376351	19376351	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:19376351C>G	ENST00000380394.4	-	6	748	c.690G>C	c.(688-690)aaG>aaC	p.K230N	RPS6_ENST00000315377.4_Missense_Mutation_p.K199N|RPS6_ENST00000498815.1_5'UTR|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000380384.1_Missense_Mutation_p.K199N	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	230					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|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)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)	p.K230N(1)		endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		GTCTGCGTCTCTTCGCAATTT	0.408																																						uc003znv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(688-690)AAG>AAC		ribosomal protein S6							64.0	67.0	66.0					9																	19376351		2203	4300	6503	SO:0001583	missense	6194				endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding	g.chr9:19376351C>G		CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.690G>C	9.37:g.19376351C>G	ENSP00000369757:p.Lys230Asn					RPS6_uc003znu.1_Missense_Mutation_p.K199N	p.K230N	NM_001010	NP_001001	P62753	RS6_HUMAN		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)	6	732	-		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)	230					P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	ENST00000380394.4	37	c.690G>C	CCDS6492.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867358	0.72065	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.54279	0.58;0.58;0.58	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.68339	0.2990	M	0.91249	3.19	0.80722	D	1	P	0.39094	0.659	B	0.42959	0.403	T	0.74822	-0.3534	9	.	.	.	-8.7438	18.8394	0.92176	0.0:1.0:0.0:0.0	.	230	P62753	RS6_HUMAN	N	230;199;199	ENSP00000369757:K230N;ENSP00000369745:K199N;ENSP00000369743:K199N	.	K	-	3	2	RPS6	19366351	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.029000	0.70895	2.498000	0.84270	0.655000	0.94253	AAG		0.408	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1		NM_001010		23	53	0	0	0	0.004656	0	23	53		
ELAVL2	1993	broad.mit.edu	37	9	23731071	23731071	+	Missense_Mutation	SNP	C	C	G	rs201108944	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:23731071C>G	ENST00000397312.2	-	3	556	c.282G>C	c.(280-282)gaG>gaC	p.E94D	ELAVL2_ENST00000380110.4_Missense_Mutation_p.E123D|ELAVL2_ENST00000544538.1_Missense_Mutation_p.E94D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.E94D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.E94D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	94	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E94D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGATAGCTTTCTCTGCATCCT	0.358																																						uc003zpu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(280-282)GAG>GAC		ELAV (embryonic lethal, abnormal vision,							153.0	129.0	137.0					9																	23731071		2203	4299	6502	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23731071C>G	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.282G>C	9.37:g.23731071C>G	ENSP00000380479:p.Glu94Asp					ELAVL2_uc003zps.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpt.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpv.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpw.2_Missense_Mutation_p.E94D	p.E94D	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	3	557	-			94			RRM 1.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.282G>C	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754907	0.49362	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.87	3.68	0.42216	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	N	0.25890	0.77	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.12760	-1.0535	10	0.28530	T	0.3	.	7.2435	0.26109	0.0:0.7159:0.0:0.2841	.	94;94	Q12926;Q12926-2	ELAV2_HUMAN;.	D	94;94;94;94;94;122;94	ENSP00000223951:E94D;ENSP00000380479:E94D;ENSP00000440998:E94D;ENSP00000369460:E94D;ENSP00000412602:E94D	ENSP00000223951:E94D	E	-	3	2	ELAVL2	23721071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.782000	0.26788	1.630000	0.50440	0.655000	0.94253	GAG		0.358	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2		NM_004432		6	16	0	0	0	0.001168	0	6	16		
TOPORS	10210	broad.mit.edu	37	9	32543021	32543021	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:32543021G>A	ENST00000360538.2	-	3	1618	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	TOPORS_ENST00000379858.1_Missense_Mutation_p.S436F	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	501	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S501F(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAGTCCTCAGAATCAGAGGA	0.403																																						uc003zrb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1501-1503)TCT>TTT		topoisomerase I binding, arginine/serine-rich							86.0	78.0	80.0					9																	32543021		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543021G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1502C>T	9.37:g.32543021G>A	ENSP00000353735:p.Ser501Phe					TOPORS_uc003zrc.2_Missense_Mutation_p.S434F	p.S501F	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1669	-			501			Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1.|Interaction with TOP1.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1502C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201842	0.38905	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.20598	2.06;2.11	5.87	4.98	0.66077	.	0.218257	0.27358	N	0.019740	T	0.24236	0.0587	L	0.29908	0.895	0.52501	D	0.999956	P	0.48589	0.912	P	0.49276	0.605	T	0.01972	-1.1237	10	0.87932	D	0	-5.1068	13.8755	0.63651	0.0743:0.0:0.9257:0.0	.	501	Q9NS56	TOPRS_HUMAN	F	501;436	ENSP00000353735:S501F;ENSP00000369187:S436F	ENSP00000353735:S501F	S	-	2	0	TOPORS	32533021	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.599000	0.82757	1.474000	0.48178	0.650000	0.86243	TCT		0.403	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802		32	41	0	0	0	0.009535	0	32	41		
TOPORS	10210	broad.mit.edu	37	9	32544192	32544192	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:32544192C>G	ENST00000360538.2	-	3	447	c.331G>C	c.(331-333)Gat>Cat	p.D111H	TOPORS_ENST00000379858.1_Missense_Mutation_p.D46H	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	111	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D111H(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GACACATTATCAAATCTATCC	0.413																																						uc003zrb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(331-333)GAT>CAT		topoisomerase I binding, arginine/serine-rich							104.0	102.0	103.0					9																	32544192		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32544192C>G	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.331G>C	9.37:g.32544192C>G	ENSP00000353735:p.Asp111His					TOPORS_uc003zrc.2_Missense_Mutation_p.D44H	p.D111H	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	498	-			111			E3 ubiquitin-protein ligase activity.|Required for DNA-binding.|RING-type.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.331G>C	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741483	0.49151	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	D;D	0.86297	-2.1;-2.1	5.6	5.6	0.85130	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.52532	D	0.000074	D	0.83963	0.5368	L	0.29908	0.895	0.43084	D	0.994742	P	0.44195	0.828	B	0.43194	0.411	D	0.85851	0.1404	10	0.62326	D	0.03	-16.2247	18.7749	0.91907	0.0:1.0:0.0:0.0	.	111	Q9NS56	TOPRS_HUMAN	H	111;46	ENSP00000353735:D111H;ENSP00000369187:D46H	ENSP00000353735:D111H	D	-	1	0	TOPORS	32534192	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.841000	0.48223	2.805000	0.96524	0.655000	0.94253	GAT		0.413	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1		NM_005802		14	61	0	0	0	0.003163	0	14	61		
GRHPR	9380	broad.mit.edu	37	9	37429803	37429803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:37429803G>C	ENST00000318158.6	+	6	653	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	GRHPR_ENST00000607784.1_Missense_Mutation_p.E190Q	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	190					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)	p.E190Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GCCCAGGCCTGAGGAAGCAGC	0.537																																						uc003zzu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(568-570)GAG>CAG		glyoxylate reductase/hydroxypyruvate reductase							84.0	82.0	83.0					9																	37429803		2203	4300	6503	SO:0001583	missense	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37429803G>C	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.568G>C	9.37:g.37429803G>C	ENSP00000313432:p.Glu190Gln					GRHPR_uc010mlv.1_Missense_Mutation_p.E110Q|GRHPR_uc003zzt.1_Missense_Mutation_p.E110Q|GRHPR_uc003zzv.1_Missense_Mutation_p.E47Q|GRHPR_uc003zzw.1_Missense_Mutation_p.E47Q	p.E190Q	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	6	609	+			190					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	c.568G>C	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701068	0.48307	.	.	ENSG00000137106	ENST00000377824;ENST00000318158;ENST00000438860	T;T	0.78364	-1.17;-1.17	5.44	-0.24	0.13047	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.415589	0.27682	N	0.018292	T	0.69584	0.3127	L	0.61387	1.9	0.31368	N	0.680578	B;B;B;B	0.21071	0.013;0.016;0.051;0.0	B;B;B;B	0.21708	0.01;0.015;0.036;0.002	T	0.63825	-0.6549	10	0.31617	T	0.26	1.9959	8.8375	0.35121	0.2743:0.2022:0.5235:0.0	.	190;203;47;190	Q5T946;Q5M7Z5;Q9H636;Q9UBQ7	.;.;.;GRHPR_HUMAN	Q	190;190;47	ENSP00000367055:E190Q;ENSP00000313432:E190Q	ENSP00000313432:E190Q	E	+	1	0	GRHPR	37419803	0.995000	0.38212	1.000000	0.80357	0.990000	0.78478	2.506000	0.45433	0.271000	0.22005	-0.136000	0.14681	GAG		0.537	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1		NM_012203		5	22	0	0	0	0.001984	0	5	22		
TMEM2	23670	broad.mit.edu	37	9	74319522	74319522	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:74319522G>C	ENST00000377044.4	-	18	3722	c.3183C>G	c.(3181-3183)gtC>gtG	p.V1061V	TMEM2_ENST00000377066.5_Silent_p.V998V|TMEM2_ENST00000396272.3_Silent_p.V54V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1061					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1061V(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TGTTGAAGTTGACGAGGTATA	0.433																																						uc011lsa.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(3181-3183)GTC>GTG		transmembrane protein 2 isoform a							103.0	97.0	99.0					9																	74319522		2203	4300	6503	SO:0001819	synonymous_variant	23670					integral to membrane		g.chr9:74319522G>C		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3183C>G	9.37:g.74319522G>C						TMEM2_uc011lrz.1_Silent_p.V54V|TMEM2_uc010mos.2_Silent_p.V998V|TMEM2_uc011lsb.1_RNA	p.V1061V	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	18	3723	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1061					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Silent	SNP	ENST00000377044.4	37	c.3183C>G	CCDS6638.1																																																																																				0.433	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2		NM_013390		27	38	0	0	0	0.008361	0	27	38		
ROR2	4920	broad.mit.edu	37	9	94486310	94486310	+	Silent	SNP	G	G	A	rs146432734	byFrequency	TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:94486310G>A	ENST00000375708.3	-	9	2664	c.2466C>T	c.(2464-2466)aaC>aaT	p.N822N	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	822	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.N822N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGGTAGCCGTTGACGGGGA	0.662													G|||	9	0.00179712	0.0008	0.0	5008	,	,		15074	0.0		0.0	False		,,,				2504	0.0082					uc004arj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20						c.(2464-2466)AAC>AAT		receptor tyrosine kinase-like orphan receptor 2		G		2,4396		0,2,2197	37.0	46.0	43.0		2466	-9.1	0.1	9	dbSNP_134	43	0,8590		0,0,4295	no	coding-synonymous	ROR2	NM_004560.3		0,2,6492	AA,AG,GG		0.0,0.0455,0.0154		822/944	94486310	2,12986	2199	4295	6494	SO:0001819	synonymous_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486310G>A	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2466C>T	9.37:g.94486310G>A						ROR2_uc004ari.1_Intron	p.N822N	NM_004560	NP_004551	Q01974	ROR2_HUMAN			9	2665	-			822			Cytoplasmic (Potential).|Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	ENST00000375708.3	37	c.2466C>T	CCDS6691.1																																																																																				0.662	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1				38	32	0	0	0	0.00361	0	38	32		
SPTLC1	10558	broad.mit.edu	37	9	94809522	94809522	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:94809522G>T	ENST00000262554.2	-	11	1018	c.1013C>A	c.(1012-1014)tCa>tAa	p.S338*		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	338					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.S338*(1)		breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TAACGAAGCTGAAAAGCAGTA	0.438																																						uc004arl.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(1012-1014)TCA>TAA		serine palmitoyltransferase subunit 1 isoform a	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						131.0	123.0	125.0					9																	94809522		2203	4300	6503	SO:0001587	stop_gained	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94809522G>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1013C>A	9.37:g.94809522G>T	ENSP00000262554:p.Ser338*					SPTLC1_uc011ltv.1_Nonsense_Mutation_p.S338*	p.S338*	NM_006415	NP_006406	O15269	SPTC1_HUMAN			11	1051	-			338			Cytoplasmic (Potential).		A8K681|Q5VWB4|Q96IX6	Nonsense_Mutation	SNP	ENST00000262554.2	37	c.1013C>A	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	G	37	6.097841	0.97281	.	.	ENSG00000090054	ENST00000262554	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2458	19.0877	0.93212	0.0:0.0:1.0:0.0	.	.	.	.	X	338	.	ENSP00000262554:S338X	S	-	2	0	SPTLC1	93849343	1.000000	0.71417	0.988000	0.46212	0.955000	0.61496	9.516000	0.98017	2.733000	0.93635	0.650000	0.86243	TCA		0.438	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1		NM_006415		9	48	1	0	4.68919e-08	0.008291	4.93976e-08	9	48		
CCDC180	100499483	broad.mit.edu	37	9	100079488	100079488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:100079488G>T	ENST00000357054.1	+	23	2421	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000375202.2_Nonsense_Mutation_p.E357*|CCDC180_ENST00000411667.2_Nonsense_Mutation_p.E354*|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.E357*|CCDC180_ENST00000395220.1_Nonsense_Mutation_p.E496*|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	496						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E357*(1)|p.E496*(1)									TCTCAAGAAGGAGGCCCTGCT	0.632																																						uc011lut.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1486-1488)GAG>TAG		hypothetical protein LOC57653							31.0	30.0	30.0					9																	100079488		2203	4300	6503	SO:0001587	stop_gained	57653							g.chr9:100079488G>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1486G>T	9.37:g.100079488G>T	ENSP00000349562:p.Glu496*					KIAA1529_uc004axe.1_Nonsense_Mutation_p.E496*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.E357*|KIAA1529_uc011lus.1_Nonsense_Mutation_p.E314*|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Nonsense_Mutation_p.E357*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.E354*	p.E496*	NM_020893	NP_065944					21	2259	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Nonsense_Mutation	SNP	ENST00000357054.1	37	c.1486G>T		.	.	.	.	.	.	.	.	.	.	G	44	11.049163	0.99508	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	.	.	.	5.38	4.47	0.54385	.	0.602006	0.17615	N	0.167934	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-8.5516	12.3735	0.55267	0.0:0.1698:0.8302:0.0	.	.	.	.	X	496;496;357;354;380;357	.	ENSP00000349562:E496X	E	+	1	0	C9orf174	99119309	1.000000	0.71417	0.988000	0.46212	0.059000	0.15707	3.639000	0.54339	1.396000	0.46663	0.563000	0.77884	GAG		0.632	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			NM_020893		4	29	1	0	0.00024832	0.009096	0.000254971	4	29		
ZFP37	7539	broad.mit.edu	37	9	115805729	115805729	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:115805729G>C	ENST00000374227.3	-	4	1196	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	ZFP37_ENST00000553380.1_Nonsense_Mutation_p.S405*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.S391*	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S390*(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATAAGGTTTGAGCTGTGTCT	0.413																																						uc004bgm.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1168-1170)TCA>TGA		zinc finger protein 37 homolog							117.0	116.0	116.0					9																	115805729		2203	4300	6503	SO:0001587	stop_gained	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805729G>C	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1169C>G	9.37:g.115805729G>C	ENSP00000363344:p.Ser390*					ZFP37_uc011lwz.1_Nonsense_Mutation_p.S405*|ZFP37_uc011lxa.1_Nonsense_Mutation_p.S391*	p.S390*	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN			4	1197	-			390			C2H2-type 4.		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Nonsense_Mutation	SNP	ENST00000374227.3	37	c.1169C>G	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331828	0.81801	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	.	.	.	4.43	3.53	0.40419	.	0.000000	0.36234	N	0.002714	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.0563	10.9003	0.47047	0.0928:0.0:0.9071:0.0	.	.	.	.	X	390;391;405	.	ENSP00000363344:S390X	S	-	2	0	ZFP37	114845550	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.507000	0.22675	1.471000	0.48121	0.655000	0.94253	TCA		0.413	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408		16	84	0	0	0	0.004007	0	16	84		
ASTN2	23245	broad.mit.edu	37	9	119770438	119770438	+	Silent	SNP	T	T	G	rs374610562		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:119770438T>G	ENST00000313400.4	-	7	1624	c.1524A>C	c.(1522-1524)ccA>ccC	p.P508P	ASTN2_ENST00000361209.2_Silent_p.P457P|ASTN2_ENST00000373996.3_Silent_p.P508P|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	508					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.P457P(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCCTCACCCATGGGGAGGTGG	0.577																																						uc004bjs.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1522-1524)CCA>CCC		astrotactin 2 isoform c							99.0	89.0	93.0					9																	119770438		2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119770438T>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1524A>C	9.37:g.119770438T>G						ASTN2_uc004bjr.1_Silent_p.P508P|ASTN2_uc004bjt.1_Silent_p.P457P	p.P508P	NM_198187	NP_937830	O75129	ASTN2_HUMAN			7	1625	-			508			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1524A>C																																																																																					0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding			NM_014010		3	55	0	0	0	0.004672	0	3	55		
GARNL3	84253	broad.mit.edu	37	9	130111209	130111209	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:130111209G>A	ENST00000373387.4	+	17	1790	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	GARNL3_ENST00000435213.2_Missense_Mutation_p.E458K|GARNL3_ENST00000314904.5_Missense_Mutation_p.E480K	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	480					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.E462K(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACAGCCGTGGGAGCCCCAGTG	0.517																																						uc011mae.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1438-1440)GAG>AAG		GTPase activating Rap/RanGAP domain-like 3							134.0	115.0	121.0					9																	130111209		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130111209G>A	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1438G>A	9.37:g.130111209G>A	ENSP00000362485:p.Glu480Lys					GARNL3_uc011mad.1_Missense_Mutation_p.E458K	p.E480K	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			17	1839	+			480					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1438G>A	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	35	5.536406	0.96460	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.89196	-2.46;-2.43;-2.48	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.69823	2.125	0.80722	D	1	D;D	0.62365	0.991;0.991	P;P	0.58172	0.834;0.834	D	0.91853	0.5493	9	.	.	.	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	480;458	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	K	458;480;480	ENSP00000396205:E458K;ENSP00000313970:E480K;ENSP00000362485:E480K	.	E	+	1	0	GARNL3	129151030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.364000	0.97136	2.941000	0.99782	0.655000	0.94253	GAG		0.517	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3		NM_032293		5	27	0	0	0	0.001168	0	5	27		
SH2D3C	10044	broad.mit.edu	37	9	130536540	130536540	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:130536540G>A	ENST00000314830.8	-	2	357	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000373277.4_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	82					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.R82C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGCTGGGGCGAGGCATGGTG	0.637																																						uc004bsc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(244-246)CGC>TGC		SH2 domain containing 3C isoform a							45.0	37.0	40.0					9																	130536540		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130536540G>A	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.244C>T	9.37:g.130536540G>A	ENSP00000317817:p.Arg82Cys					SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.R26C	p.R82C	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			2	386	-			82					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.244C>T	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698307	0.68386	.	.	ENSG00000095370	ENST00000314830	T	0.22945	1.93	5.08	4.18	0.49190	.	0.263709	0.31859	N	0.006960	T	0.21227	0.0511	L	0.48642	1.525	0.80722	D	1	B	0.18310	0.027	B	0.12156	0.007	T	0.07501	-1.0769	10	0.87932	D	0	0.0085	6.5709	0.22539	0.0924:0.0:0.7292:0.1784	.	82	Q8N5H7	SH2D3_HUMAN	C	82	ENSP00000317817:R82C	ENSP00000317817:R82C	R	-	1	0	SH2D3C	129576361	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	1.739000	0.38217	1.290000	0.44636	0.561000	0.74099	CGC		0.637	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1		NM_005489		16	29	0	0	0	0.004007	0	16	29		
NUP214	8021	broad.mit.edu	37	9	134003045	134003045	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:134003045G>T	ENST00000359428.5	+	2	324	c.180G>T	c.(178-180)caG>caT	p.Q60H	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.Q60H|NUP214_ENST00000411637.2_Missense_Mutation_p.Q60H			P35658	NU214_HUMAN	nucleoporin 214kDa	60	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.Q60H(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTGGCTTGCAGATTTTTCCTA	0.448			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NaN		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		urinary_tract(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(178-180)CAG>CAT		nucleoporin 214kDa							83.0	92.0	89.0					9																	134003045		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134003045G>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.180G>T	9.37:g.134003045G>T	ENSP00000352400:p.Gln60His					NUP214_uc004cah.2_Missense_Mutation_p.Q60H|NUP214_uc004caf.1_Missense_Mutation_p.Q60H	p.Q60H	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	2	291	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	60					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.180G>T	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	9.433	1.086040	0.20390	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.93426	-3.22;-3.22;-3.22	5.74	-9.17	0.00691	WD40/YVTN repeat-like-containing domain (1);	1.169930	0.06525	N	0.740401	T	0.82204	0.4986	N	0.22421	0.69	0.18873	N	0.999983	B;B	0.15141	0.005;0.012	B;B	0.12837	0.006;0.008	T	0.68205	-0.5470	10	0.41790	T	0.15	-24.1707	0.7797	0.01038	0.2808:0.2617:0.2721:0.1853	.	60;60	P35658-4;P35658	.;NU214_HUMAN	H	60	ENSP00000352400:Q60H;ENSP00000396576:Q60H;ENSP00000405014:Q60H	ENSP00000352400:Q60H	Q	+	3	2	NUP214	132992866	0.044000	0.20184	0.048000	0.18961	0.202000	0.24057	-0.680000	0.05197	-1.780000	0.01279	-0.793000	0.03317	CAG		0.448	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2		NM_005085		19	83	1	0	1.01871e-10	0.008871	1.08307e-10	19	83		
NACC2	138151	broad.mit.edu	37	9	138903719	138903719	+	Silent	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:138903719G>A	ENST00000371753.1	-	5	1465	c.1407C>T	c.(1405-1407)gtC>gtT	p.V469V	NACC2_ENST00000277554.2_Silent_p.V469V			Q96BF6	NACC2_HUMAN	NACC family member 2, BEN and BTB (POZ) domain containing	469					cellular protein complex localization (GO:0034629)|histone deacetylation (GO:0016575)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle by negative regulation of transcription from RNA polymerase II promoter (GO:1900477)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|posttranscriptional regulation of gene expression (GO:0010608)|protein homooligomerization (GO:0051260)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)	p.V469V(1)		endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						CGGAGCCCATGACCGTGCGGT	0.711																																						uc004cgw.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1405-1407)GTC>GTT		BTB (POZ) domain containing 14A							18.0	15.0	16.0					9																	138903719		2179	4258	6437	SO:0001819	synonymous_variant	138151				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body		g.chr9:138903719G>A	BC015649	CCDS6993.1	9q34.3	2013-01-09	2008-10-03	2008-10-03	ENSG00000148411	ENSG00000148411		"""BEN domain containing"", ""BTB/POZ domain containing"""	23846	protein-coding gene	gene with protein product	"""BEN domain containing 9"""	615786	"""BTB (POZ) domain containing 14A"""	BTBD14A		12477932	Standard	NM_144653		Approved	MGC23427, BEND9, BTBD31	uc004cgv.4	Q96BF6	OTTHUMG00000020921	ENST00000371753.1:c.1407C>T	9.37:g.138903719G>A						NACC2_uc010nbh.2_Silent_p.V108V|uc004cgv.3_5'Flank	p.V469V	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN			6	1563	-			469						Silent	SNP	ENST00000371753.1	37	c.1407C>T	CCDS6993.1																																																																																				0.711	NACC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055040.1		NM_144653		5	2	0	0	0	0.000602	0	5	2		
SEC16A	9919	broad.mit.edu	37	9	139371368	139371368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:139371368C>A	ENST00000371706.3	-	1	199	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	SEC16A_ENST00000431893.2_Nonsense_Mutation_p.E56*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.E56*|SEC16A_ENST00000313050.7_Nonsense_Mutation_p.E234*			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	56					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.E234*(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACAGGTCCTTCAGGGCAGGGT	0.652																																						uc004chx.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(700-702)GAA>TAA		SEC16 homolog A							23.0	27.0	26.0					9																	139371368		2123	4213	6336	SO:0001587	stop_gained	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371368C>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.166G>T	9.37:g.139371368C>A	ENSP00000360771:p.Glu56*					SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Nonsense_Mutation_p.E234*|SEC16A_uc010nbn.2_Nonsense_Mutation_p.E234*|SEC16A_uc010nbo.1_Nonsense_Mutation_p.E234*	p.E234*	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	1009	-		Myeloproliferative disorder(178;0.0511)	56					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Nonsense_Mutation	SNP	ENST00000371706.3	37	c.700G>T		.	.	.	.	.	.	.	.	.	.	C	22.4	4.280943	0.80692	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	.	.	.	4.88	2.99	0.34606	.	0.426103	0.21524	N	0.073173	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.4031	9.3804	0.38311	0.0:0.7752:0.1454:0.0794	.	.	.	.	X	234;56;56;56	.	ENSP00000290037:E56X	E	-	1	0	SEC16A	138491189	0.536000	0.26378	0.022000	0.16811	0.141000	0.21300	1.238000	0.32707	0.569000	0.29329	0.655000	0.94253	GAA		0.652	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459		11	28	1	0	0.00136819	0.001368	0.0013986	11	28		
ZMYND19	116225	broad.mit.edu	37	9	140477494	140477494	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr9:140477494C>T	ENST00000298585.2	-	5	707	c.481G>A	c.(481-483)Gag>Aag	p.E161K		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	161	Poly-Glu.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.E161K(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CAAGAGTTCTCCTCCTCTTCC	0.527																																						uc004cno.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(481-483)GAG>AAG		zinc finger, MYND domain containing 19							287.0	235.0	253.0					9																	140477494		2203	4300	6503	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140477494C>T	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.481G>A	9.37:g.140477494C>T	ENSP00000298585:p.Glu161Lys						p.E161K	NM_138462	NP_612471	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	5	703	-	all_cancers(76;0.106)		161			Poly-Glu.		Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.481G>A	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191594	0.78902	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.29	5.29	0.74685	.	0.148962	0.64402	D	0.000014	T	0.56232	0.1971	L	0.47716	1.5	0.58432	D	0.999999	P	0.46987	0.888	P	0.44561	0.453	T	0.58120	-0.7692	9	0.44086	T	0.13	-35.6934	16.4518	0.83993	0.0:1.0:0.0:0.0	.	161	Q96E35	ZMY19_HUMAN	K	161	.	ENSP00000298585:E161K	E	-	1	0	ZMYND19	139597315	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	7.697000	0.84279	2.478000	0.83669	0.561000	0.74099	GAG		0.527	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1		NM_138462		27	126	0	0	0	0.005443	0	27	126		
PIGA	5277	broad.mit.edu	37	X	15349792	15349792	+	Silent	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:15349792G>C	ENST00000333590.4	-	2	345	c.261C>G	c.(259-261)ctC>ctG	p.L87L	PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	87					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)	p.L87L(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AATAGACTTTGAGGCCACTGG	0.463																																						uc004cwr.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(259-261)CTC>CTG		phosphatidylinositol							172.0	145.0	154.0					X																	15349792		2203	4300	6503	SO:0001819	synonymous_variant	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15349792G>C	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.261C>G	X.37:g.15349792G>C						PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Silent_p.L87L|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Silent_p.L87L	p.L87L	NM_002641	NP_002632	P37287	PIGA_HUMAN			2	361	-	Hepatocellular(33;0.183)		87			Cytoplasmic (Potential).		B4E0V2|Q16025|Q16250	Silent	SNP	ENST00000333590.4	37	c.261C>G	CCDS14165.1																																																																																				0.463	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1		NM_002641		41	42	0	0	0	0.00361	0	41	42		
BMX	660	broad.mit.edu	37	X	15548141	15548141	+	Silent	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:15548141C>G	ENST00000357607.2	+	10	1118	c.930C>G	c.(928-930)ctC>ctG	p.L310L	BMX_ENST00000342014.6_Silent_p.L310L|BMX_ENST00000348343.6_Silent_p.L310L			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	310	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)	p.L310L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AACAGTTACTCAGACAAAAGG	0.368																																						uc004cww.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(3)|ovary(2)	5						c.(928-930)CTC>CTG		BMX non-receptor tyrosine kinase							87.0	80.0	82.0					X																	15548141		2203	4300	6503	SO:0001819	synonymous_variant	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15548141C>G	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.930C>G	X.37:g.15548141C>G						BMX_uc004cwx.3_Silent_p.L310L|BMX_uc004cwy.3_Silent_p.L310L	p.L310L	NM_203281	NP_975010	P51813	BMX_HUMAN			10	1118	+	Hepatocellular(33;0.183)		310			SH2.		A6NIH9|O60564|Q12871	Silent	SNP	ENST00000357607.2	37	c.930C>G	CCDS14168.1																																																																																				0.368	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1		NM_001721		9	16	0	0	0	0.006214	0	9	16		
KLHL34	257240	broad.mit.edu	37	X	21675005	21675005	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:21675005G>A	ENST00000379499.2	-	1	1443	c.902C>T	c.(901-903)cCg>cTg	p.P301L		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	301						extracellular space (GO:0005615)		p.P301L(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGCCCTCTGCGGGGCCGCGAC	0.682																																						uc004czz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(901-903)CCG>CTG		kelch-like 34							12.0	11.0	11.0					X																	21675005		2156	4208	6364	SO:0001583	missense	257240							g.chrX:21675005G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.902C>T	X.37:g.21675005G>A	ENSP00000368813:p.Pro301Leu						p.P301L	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1444	-			301						Missense_Mutation	SNP	ENST00000379499.2	37	c.902C>T	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.711962	0.00712	.	.	ENSG00000185915	ENST00000379499	T	0.72725	-0.68	4.76	-1.38	0.09027	.	1.399080	0.05190	N	0.502856	T	0.44746	0.1308	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18116	-1.0347	10	0.11485	T	0.65	.	4.8045	0.13314	0.4599:0.3006:0.2395:0.0	.	301	Q8N239	KLH34_HUMAN	L	301	ENSP00000368813:P301L	ENSP00000368813:P301L	P	-	2	0	KLHL34	21584926	0.112000	0.22096	0.000000	0.03702	0.003000	0.03518	0.591000	0.23969	-0.704000	0.05042	0.422000	0.28245	CCG		0.682	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1		NM_153270		6	6	0	0	0	0.001168	0	6	6		
POLA1	5422	broad.mit.edu	37	X	24906201	24906201	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:24906201C>G	ENST00000379059.3	+	35	4123	c.4108C>G	c.(4108-4110)Ctt>Gtt	p.L1370V	POLA1_ENST00000379068.3_Missense_Mutation_p.L1376V	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1370	DNA-binding region. {ECO:0000255}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.L1370V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AACTGGGCCTCTTTGCCCAGC	0.493																																						uc004dbl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(4108-4110)CTT>GTT		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						127.0	99.0	109.0					X																	24906201		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24906201C>G		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.4108C>G	X.37:g.24906201C>G	ENSP00000368349:p.Leu1370Val						p.L1370V	NM_016937	NP_058633	P09884	DPOLA_HUMAN			35	4131	+			1370			Potential.|C4-type.		Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.4108C>G	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235433	0.22626	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.18657	2.2;2.2	5.58	3.67	0.42095	Zinc finger, DNA-directed DNA polymerase, family B, alpha (1);	0.178760	0.45361	D	0.000368	T	0.14141	0.0342	L	0.45051	1.395	0.39782	D	0.972314	B	0.18310	0.027	B	0.26310	0.068	T	0.09465	-1.0673	10	0.10377	T	0.69	-1.7523	3.6356	0.08147	0.2506:0.3077:0.3603:0.0814	.	1370	P09884	DPOLA_HUMAN	V	1376;1370	ENSP00000368358:L1376V;ENSP00000368349:L1370V	ENSP00000368349:L1370V	L	+	1	0	POLA1	24816122	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	1.892000	0.39748	1.095000	0.41419	0.600000	0.82982	CTT		0.493	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1		NM_016937		12	17	0	0	0	0.001368	0	12	17		
IL1RAPL1	11141	broad.mit.edu	37	X	29935671	29935671	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:29935671T>C	ENST00000378993.1	+	7	1542	c.869T>C	c.(868-870)aTt>aCt	p.I290T	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I290T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	290	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.I290T(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GAAAAATTTATTGAAGATCTG	0.363																																						uc004dby.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(868-870)ATT>ACT		interleukin 1 receptor accessory protein-like 1							63.0	61.0	62.0					X																	29935671		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29935671T>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.869T>C	X.37:g.29935671T>C	ENSP00000368278:p.Ile290Thr						p.I290T	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			7	1377	+			290			Extracellular (Potential).|Ig-like C2-type 3.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.869T>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476942	0.63849	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.68903	-0.36;-0.36	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80319	0.4601	M	0.76574	2.34	0.58432	D	0.999996	D	0.59767	0.986	D	0.65573	0.936	T	0.81282	-0.1003	9	.	.	.	.	15.0274	0.71680	0.0:0.0:0.0:1.0	.	290	Q9NZN1	IRPL1_HUMAN	T	290	ENSP00000368278:I290T;ENSP00000305200:I290T	.	I	+	2	0	IL1RAPL1	29845592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.931000	0.55961	0.486000	0.48141	ATT		0.363	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1		NM_014271		19	14	0	0	0	0.012319	0	19	14		
UBA1	7317	broad.mit.edu	37	X	47069375	47069375	+	Silent	SNP	C	C	T			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:47069375C>T	ENST00000335972.6	+	18	2235	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P	UBA1_ENST00000377351.4_Silent_p.P684P|UBA1_ENST00000377269.3_Silent_p.P132P	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	684					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.P684P(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCACTCAGCCCTTGGAGGTGC	0.607																																						uc004dhj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2050-2052)CCC>CCT		ubiquitin-activating enzyme E1							65.0	61.0	62.0					X																	47069375		2201	4300	6501	SO:0001819	synonymous_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47069375C>T	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.2052C>T	X.37:g.47069375C>T						UBA1_uc004dhk.3_Silent_p.P684P|UBA1_uc004dhm.2_Silent_p.P132P	p.P684P	NM_153280	NP_695012	P22314	UBA1_HUMAN			18	2203	+			684					Q5JRR8|Q96E13	Silent	SNP	ENST00000335972.6	37	c.2052C>T	CCDS14275.1																																																																																				0.607	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1		NM_003334		10	64	0	0	0	0.008291	0	10	64		
PLP2	5355	broad.mit.edu	37	X	49030735	49030736	+	Missense_Mutation	DNP	CC	CC	TT	rs368640397		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:49030735_49030736CC>TT	ENST00000376327.5	+	4	474_475	c.399_400CC>TT	c.(397-402)ttCCcc>ttTTcc	p.P134S		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	134	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)	p.F133F(1)|p.P134S(1)|p.F133>?(1)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						ATGTCACCTTCCCCGTTCGGCA	0.559																																						uc004dmx.2		NaN																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)		urinary_tract(3)		0						c.(397-402)TTCCCC>TTTTCC		proteolipid protein 2 (colonic																																				SO:0001583	missense	5355				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	g.chrX:49030735_49030736CC>TT	L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	Exception_encountered	X.37:g.49030735_49030736delinsTT	ENSP00000365505:p.Pro134Ser						p.P134S	NM_002668	NP_002659	Q04941	PLP2_HUMAN			4	474_475	+			134			MARVEL.		A6NDT7|Q32MM8	Missense_Mutation	DNP	ENST00000376327.5	37	c.399_400CC>TT	CCDS14319.1																																																																																				0.559	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1		NM_002668		17	15	0	0	0	0.004672	0	17	15		
OTUD6A	139562	broad.mit.edu	37	X	69282886	69282886	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:69282886G>C	ENST00000338352.2	+	1	546	c.512G>C	c.(511-513)cGc>cCc	p.R171P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	171	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.R171P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GAGATGCTGCGCTGCCGCACC	0.617																																						uc004dxu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|skin(1)	2						c.(511-513)CGC>CCC		OTU domain containing 6A							53.0	38.0	43.0					X																	69282886		2203	4300	6503	SO:0001583	missense	139562							g.chrX:69282886G>C	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.512G>C	X.37:g.69282886G>C	ENSP00000339389:p.Arg171Pro						p.R171P	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			1	546	+			171			OTU.		B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.512G>C	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215301	0.58452	.	.	ENSG00000189401	ENST00000338352	T	0.76316	-1.01	4.27	3.41	0.39046	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	H	0.96301	3.8	0.22754	N	0.998776	D	0.89917	1.0	D	0.97110	1.0	T	0.82563	-0.0395	10	0.87932	D	0	.	9.5568	0.39343	0.1069:0.0:0.8931:0.0	.	171	Q7L8S5	OTU6A_HUMAN	P	171	ENSP00000339389:R171P	ENSP00000339389:R171P	R	+	2	0	OTUD6A	69199611	0.905000	0.30787	0.001000	0.08648	0.000000	0.00434	5.651000	0.67951	1.157000	0.42530	-0.208000	0.12717	CGC		0.617	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1		NM_207320		5	8	0	0	0	0.001168	0	5	8		
ATP7A	538	broad.mit.edu	37	X	77245376	77245376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:77245376G>C	ENST00000341514.6	+	4	1413	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E420Q	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	420	HMA 4. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.E420Q(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGGGACTGTTGAGTATGATCC	0.403																																						uc004ecx.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1258-1260)GAG>CAG		ATPase, Cu++ transporting, alpha polypeptide							94.0	85.0	88.0					X																	77245376		2203	4296	6499	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77245376G>C	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1258G>C	X.37:g.77245376G>C	ENSP00000345728:p.Glu420Gln					ATP7A_uc004ecw.2_Missense_Mutation_p.E420Q	p.E420Q	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			4	1418	+			420			HMA 4.|Cytoplasmic (Potential).		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.1258G>C	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026334	0.35701	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.87887	-2.31;-2.31	5.77	5.77	0.91146	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	L	0.47716	1.5	0.80722	D	1	D;P	0.62365	0.991;0.889	D;P	0.65140	0.932;0.524	D	0.87102	0.2179	10	0.22706	T	0.39	0.6935	14.5536	0.68084	0.0:0.1418:0.8582:0.0	.	420;430	Q04656;Q59HD1	ATP7A_HUMAN;.	Q	420;420;430	ENSP00000343026:E420Q;ENSP00000345728:E420Q	ENSP00000345728:E420Q	E	+	1	0	ATP7A	77132032	1.000000	0.71417	0.978000	0.43139	0.953000	0.61014	6.623000	0.74238	2.437000	0.82529	0.594000	0.82650	GAG		0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1		NM_000052		6	66	0	0	0	0.001168	0	6	66		
TBC1D8B	54885	broad.mit.edu	37	X	106083998	106083998	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chrX:106083998G>C	ENST00000357242.5	+	10	1777	c.1603G>C	c.(1603-1605)Gat>Cat	p.D535H	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D535H|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D529H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	535	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.D535H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATTGAACGTGATTTACGTCG	0.463																																						uc004emo.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1603-1605)GAT>CAT		TBC1 domain family, member 8B (with GRAM domain)							177.0	156.0	163.0					X																	106083998		2203	4299	6502	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106083998G>C	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1603G>C	X.37:g.106083998G>C	ENSP00000349781:p.Asp535His					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.D535H	p.D535H	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			10	1768	+			535			Rab-GAP TBC.		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1603G>C	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533922	0.85812	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.49432	0.78;0.78;0.78	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	D	0.83289	0.5222	H	0.99746	4.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91283	0.5053	10	0.87932	D	0	-19.9247	16.5186	0.84307	0.0:0.0:1.0:0.0	.	535;535	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	H	535;535;529	ENSP00000349781:D535H;ENSP00000310675:D535H;ENSP00000276175:D529H	ENSP00000276175:D529H	D	+	1	0	TBC1D8B	105970654	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.208000	0.71279	0.506000	0.49869	GAT		0.463	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2		NM_017752		12	56	0	0	0	0.001855	0	12	56		
PABPC4	8761	broad.mit.edu	37	1	40038094	40038094	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40038094delA	ENST00000372857.3	-	2	1150	c.358delT	c.(358-360)tctfs	p.S120fs	PABPC4_ENST00000372856.3_Frame_Shift_Del_p.S120fs|PABPC4_ENST00000529216.1_5'Flank|PABPC4_ENST00000372858.3_Frame_Shift_Del_p.S120fs|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.S120fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	120	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAAAAGCAGAAAAAGTATCA	0.343																																						uc010oiv.1		NaN																	0					0						c.(358-360)TCTfs		poly A binding protein, cytoplasmic 4 isoform 2							95.0	94.0	94.0					1																	40038094		2203	4300	6503	SO:0001589	frameshift_variant	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40038094delA	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.358delT	1.37:g.40038094delA	ENSP00000361948:p.Ser120fs					PABPC4_uc001cdl.2_Frame_Shift_Del_p.S120fs|PABPC4_uc001cdm.2_Frame_Shift_Del_p.S120fs	p.S120fs	NM_003819	NP_003810	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	1256	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	120			RRM 2.		B1ANQ8|Q4VC03|Q6P0N3	Frame_Shift_Del	DEL	ENST00000372857.3	37	c.358delT	CCDS438.1																																																																																				0.343	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1		NM_001135653		12	516	NaN	NaN	NaN	NaN	NaN	12	516	---	---
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406																																						uc001cfe.2		NaN																	0				ovary(1)	1						c.(43-45)TCTfs		transmembrane and coiled-coil domains 2																																				SO:0001589	frameshift_variant	127391					integral to membrane		g.chr1:40713708_40713709delTC	AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.43_44delTC	1.37:g.40713718_40713719delTC	ENSP00000361852:p.Ser15fs						p.S15fs	NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	136_137	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	15						Frame_Shift_Del	DEL	ENST00000372766.3	37	c.43_44delTC	CCDS30684.1																																																																																				0.406	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015769.1		NM_001008740		11	1610	NaN	NaN	NaN	NaN	NaN	11	1610	---	---
KMT2A	4297	broad.mit.edu	37	11	118373957	118373969	+	Frame_Shift_Del	DEL	GGAACCTGGTCAG	GGAACCTGGTCAG	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08			GGAACCTGGTCAG	-	GGAACCTGGTCAG	GGAACCTGGTCAG		Valid	Somatic	Phase_I	WXS	Fluidigm_realigned			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr11:118373957_118373969delGGAACCTGGTCAG	ENST00000389506.5	+	27	7341_7353	c.7341_7353delGGAACCTGGTCAG	c.(7339-7353)ttggaacctggtcagfs	p.LEPGQ2447fs	KMT2A_ENST00000534358.1_Frame_Shift_Del_p.LEPGQ2450fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.LEPGQ2409fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2447					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AATCTTTTTTGGAACCTGGTCAGGTGACAACTG	0.404																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(7339-7353)TTGGAACCTGGTCAGfs		myeloid/lymphoid or mixed-lineage leukemia																																				SO:0001589	frameshift_variant	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118373957_118373969delGGAACCTGGTCAG	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7341_7353delGGAACCTGGTCAG	11.37:g.118373957_118373969delGGAACCTGGTCAG	ENSP00000374157:p.Leu2447fs					MLL_uc001ptb.2_Frame_Shift_Del_p.L2450fs	p.L2447fs	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	27	7364_7376	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	2447_2451					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Del	DEL	ENST00000389506.5	37	c.7341_7353delGGAACCTGGTCAG	CCDS31686.1																																																																																				0.404	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		14	53	NaN	NaN	NaN	NaN	NaN	14	53	---	---
TMBIM6	7009	broad.mit.edu	37	12	50156659	50156667	+	In_Frame_Del	DEL	AAGAAGAAA	AAGAAGAAA	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr12:50156659_50156667delAAGAAGAAA	ENST00000267115.5	+	10	779_787	c.694_702delAAGAAGAAA	c.(694-702)aagaagaaadel	p.KKK232del	TMBIM6_ENST00000423828.1_In_Frame_Del_p.KKK290del|TMBIM6_ENST00000547798.1_In_Frame_Del_p.KKK195del|TMBIM6_ENST00000549385.1_In_Frame_Del_p.KKK232del|TMBIM6_ENST00000552699.1_In_Frame_Del_p.KKK290del|TMBIM6_ENST00000395006.4_In_Frame_Del_p.KKK232del	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	232					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTCTAGGATAAGAAGAAAGAGAAGAAAT	0.397											OREG0021802	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rux.2		NaN																	0					0						c.(694-702)AAGAAGAAAdel		testis enhanced gene transcript (BAX inhibitor																																				SO:0001651	inframe_deletion	7009				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		g.chr12:50156659_50156667delAAGAAGAAA	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"""BAX inhibitor 1"""	600748	"""testis enhanced gene transcript"""	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.694_702delAAGAAGAAA	12.37:g.50156659_50156667delAAGAAGAAA	ENSP00000267115:p.Lys232_Lys234del		OREG0021802	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	967	TMBIM6_uc010sml.1_3'UTR|TMBIM6_uc001ruy.2_In_Frame_Del_p.KKK290del|TMBIM6_uc001ruz.2_In_Frame_Del_p.KKK232del	p.KKK232del	NM_003217	NP_003208	P55061	BI1_HUMAN			10	826_834	+			232_234					B2R5M4|F8W034|O14938|Q643A7|Q96J50	In_Frame_Del	DEL	ENST00000267115.5	37	c.694_702delAAGAAGAAA	CCDS31797.1																																																																																				0.397	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1		NM_003217		8	178	NaN	NaN	NaN	NaN	NaN	8	178	---	---
GPR180	160897	broad.mit.edu	37	13	95273330	95273330	+	Splice_Site	DEL	A	A	-			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr13:95273330delA	ENST00000376958.4	+	6	761		c.e6-1			NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180						G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ATGTCCCATTAGTTTTTGACA	0.333																																						uc001vly.2		NaN																	0				breast(1)	1						c.e6-2		G protein-coupled receptor 180 precursor							128.0	120.0	122.0					13																	95273330		2203	4300	6503	SO:0001630	splice_region_variant	160897					integral to membrane		g.chr13:95273330delA	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.737-1A>-	13.37:g.95273330delA						GPR180_uc001vlz.2_Splice_Site_p.F145_splice|GPR180_uc010afi.2_Splice_Site_p.F7_splice	p.F246_splice	NM_180989	NP_851320	Q86V85	GP180_HUMAN			6	815	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)							A8K1D5	Splice_Site	DEL	ENST00000376958.4	37	c.737_splice	CCDS9472.1																																																																																				0.333	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3		NM_180989	Intron	42	54	NaN	NaN	NaN	NaN	NaN	42	54	---	---
SUPT16H	11198	broad.mit.edu	37	14	21828595	21828597	+	In_Frame_Del	DEL	AAT	AAT	-	rs372181784		TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr14:21828595_21828597delAAT	ENST00000216297.2	-	18	2490_2492	c.2152_2154delATT	c.(2152-2154)attdel	p.I718del		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	718					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGTGCAAGACAATAATCATTTCT	0.404																																						uc001wao.2		NaN																	0					0						c.(2152-2154)ATTdel		chromatin-specific transcription elongation																																				SO:0001651	inframe_deletion	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21828595_21828597delAAT	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2152_2154delATT	14.37:g.21828598_21828600delAAT	ENSP00000216297:p.Ile718del					SUPT16H_uc001wan.2_5'Flank	p.I718del	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	18	2491_2493	-	all_cancers(95;0.00115)		718					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	In_Frame_Del	DEL	ENST00000216297.2	37	c.2152_2154delATT	CCDS9569.1																																																																																				0.404	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2				17	98	NaN	NaN	NaN	NaN	NaN	17	98	---	---
WDR60	55112	broad.mit.edu	37	7	158704352	158704353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BT-A20J-01A-11D-A14W-08	TCGA-BT-A20J-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d3c0ff9-d149-4d21-8955-5fb849fc5462	a1378c67-a8c5-4591-9564-22bc71cbe0b8	g.chr7:158704352_158704353insA	ENST00000407559.3	+	12	1730_1731	c.1572_1573insA	c.(1573-1575)aaafs	p.K525fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	525					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAAACTTTGGGAAAAAAAATAC	0.332																																						uc003woe.3		NaN																	0		p.G524R(1)		ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1570-1575)GGGAAAfs		WD repeat domain 60																																				SO:0001589	frameshift_variant	55112							g.chr7:158704352_158704353insA		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1580dupA	7.37:g.158704360_158704360dupA	ENSP00000384290:p.Lys525fs					WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Frame_Shift_Ins_p.G156fs	p.G524fs	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	12	1730_1731	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	524_525					Q9NW58	Frame_Shift_Ins	INS	ENST00000407559.3	37	c.1572_1573insA	CCDS47757.1																																																																																				0.332	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1		NM_018051		16	93	NaN	NaN	NaN	NaN	NaN	16	93	---	---
