#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
SAMD11	148398	broad.mit.edu	37	1	871255	871255	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:871255G>A	ENST00000342066.3	+	5	492	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	137					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)		p.E137K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGGCAGCCTGGAGATTGGCCT	0.677																																						uc001abw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(409-411)GAG>AAG		sterile alpha motif domain containing 11							41.0	39.0	40.0					1																	871255		2202	4300	6502	SO:0001583	missense	148398					nucleus		g.chr1:871255G>A	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.409G>A	1.37:g.871255G>A	ENSP00000342313:p.Glu137Lys					SAMD11_uc001abv.1_Missense_Mutation_p.E137K|SAMD11_uc001abx.1_Missense_Mutation_p.E16K	p.E137K	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	5	489	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	137					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.409G>A	CCDS2.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.661761|2.661761	0.47572|0.47572	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000420190;ENST00000342066|ENST00000341065	.|.	.|.	.|.	3.9|3.9	3.9|3.9	0.45041|0.45041	.|.	0.370050|.	0.23896|.	N|.	0.043485|.	T|.	0.53642|.	0.1809|.	L|L	0.47716|0.47716	1.5|1.5	0.33195|0.33195	D|D	0.551448|0.551448	D;D|.	0.67145|.	0.996;0.993|.	D;D|.	0.73708|.	0.981;0.956|.	T|.	0.62680|.	-0.6803|.	9|.	0.72032|.	D|.	0.01|.	-27.4849|-27.4849	11.5758|11.5758	0.50860|0.50860	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137;137|.	Q96NU1-1;Q96NU1|.	.;SAM11_HUMAN|.	K|X	137|60	.|.	ENSP00000342313:E137K|.	E|W	+|+	1|3	0|0	SAMD11|SAMD11	861118|861118	1.000000|1.000000	0.71417|0.71417	0.730000|0.730000	0.30809|0.30809	0.452000|0.452000	0.32318|0.32318	6.337000|6.337000	0.72958|0.72958	2.178000|2.178000	0.69098|0.69098	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.677	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2		NM_152486		32	33	0	0	0	0.013726	0	32	33		
TNFRSF4	7293	broad.mit.edu	37	1	1148065	1148065	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:1148065T>C	ENST00000379236.3	-	4	394	c.390A>G	c.(388-390)ccA>ccG	p.P130P	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	130					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.P130P(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAAGTGCCCTGGAGGGCAGG	0.697																																						uc001ade.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(388-390)CCA>CCG		tumor necrosis factor receptor superfamily,							8.0	9.0	9.0					1																	1148065		2159	4239	6398	SO:0001819	synonymous_variant	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1148065T>C	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.390A>G	1.37:g.1148065T>C						TNFRSF4_uc001adf.2_Silent_p.P134P	p.P130P	NM_003327	NP_003318	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	395	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	130			TNFR-Cys 4.|Extracellular (Potential).		Q13663|Q2M312|Q5T7M0	Silent	SNP	ENST00000379236.3	37	c.390A>G	CCDS11.1	.	.	.	.	.	.	.	.	.	.	t	1.992	-0.431550	0.04669	.	.	ENSG00000186827	ENST00000453580	.	.	.	3.53	-7.06	0.01568	.	.	.	.	.	T	0.15565	0.0375	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20806	-1.0264	4	.	.	.	-11.1827	1.4752	0.02425	0.1411:0.2732:0.3196:0.2662	.	.	.	.	G	76	.	.	R	-	1	2	TNFRSF4	1137928	0.000000	0.05858	0.260000	0.24451	0.490000	0.33462	-2.455000	0.01003	-1.772000	0.01292	0.241000	0.17934	AGG		0.697	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1				8	9	0	0	0	0.008291	0	8	9		
MMP23B	8510	broad.mit.edu	37	1	1572863	1572863	+	IGR	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:1572863C>A	ENST00000356026.5	+	0	1326				CDK11B_ENST00000317673.7_Missense_Mutation_p.G494C|CDK11B_ENST00000341832.6_Missense_Mutation_p.G449C|CDK11B_ENST00000340677.5_Missense_Mutation_p.G483C|CDK11B_ENST00000407249.3_Missense_Mutation_p.G496C			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G496C(1)		large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	ATGTTGCTGCCCACCACAATC	0.602																																						uc001agv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1477-1479)GGC>TGC		cell division cycle 2-like 1 (PITSLRE proteins)							89.0	87.0	88.0					1																	1572863		2069	4197	6266	SO:0001628	intergenic_variant	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1572863C>A		CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572863C>A						CDK11B_uc009vkj.2_Missense_Mutation_p.G150C|CDK11B_uc001ags.1_Missense_Mutation_p.G351C|CDK11B_uc001agt.1_Missense_Mutation_p.G276C|CDK11B_uc001aha.1_Missense_Mutation_p.G459C|CDK11B_uc001agw.1_Missense_Mutation_p.G448C|CDK11B_uc001agy.1_Missense_Mutation_p.G491C|CDK11B_uc001agx.1_Missense_Mutation_p.G482C|CDK11B_uc001agz.1_Missense_Mutation_p.G237C	p.G493C	NM_033486	NP_277021	P21127	CD11B_HUMAN			18	1588	-			506		G -> S.	Protein kinase.		A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	ENST00000356026.5	37	c.1477G>T	CCDS30559.1																																																																																				0.602	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158492.2		NM_006983		5	44	1	0	3.59834e-05	0.001168	3.73876e-05	5	44		
TNFRSF9	3604	broad.mit.edu	37	1	7993258	7993258	+	Missense_Mutation	SNP	G	G	A	rs143524950		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:7993258G>A	ENST00000377507.3	-	7	809	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	215	Interaction with LRR-1.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.R215W(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTGCCCCGTTTAACAACA	0.428																																						uc001aot.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(643-645)CGG>TGG		tumor necrosis factor receptor superfamily,		G	TRP/ARG	0,4406		0,0,2203	68.0	63.0	65.0		643	0.7	0.0	1	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFRSF9	NM_001561.5	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	215/256	7993258	1,13005	2203	4300	6503	SO:0001583	missense	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7993258G>A	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.643C>T	1.37:g.7993258G>A	ENSP00000366729:p.Arg215Trp						p.R215W	NM_001561	NP_001552	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	7	771	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	215			Cytoplasmic (Potential).|Interaction with LRR-1.			Missense_Mutation	SNP	ENST00000377507.3	37	c.643C>T	CCDS92.1	.	.	.	.	.	.	.	.	.	.	G	8.727	0.915645	0.17907	0.0	1.16E-4	ENSG00000049249	ENST00000377507	T	0.70164	-0.46	4.38	0.705	0.18127	.	2.377230	0.01422	N	0.014414	T	0.38081	0.1027	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36890	-0.9729	10	0.54805	T	0.06	-2.2157	2.1944	0.03907	0.3739:0.0:0.3871:0.2391	.	215	Q07011	TNR9_HUMAN	W	215	ENSP00000366729:R215W	ENSP00000366729:R215W	R	-	1	2	TNFRSF9	7915845	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.090000	0.15025	0.422000	0.26005	0.563000	0.77884	CGG		0.428	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1				34	43	0	0	0	0.015359	0	34	43		
RERE	473	broad.mit.edu	37	1	8601355	8601355	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:8601355A>C	ENST00000337907.3	-	8	1382	c.748T>G	c.(748-750)Ttt>Gtt	p.F250V	RERE_ENST00000400908.2_Missense_Mutation_p.F250V|RERE_ENST00000400907.2_Missense_Mutation_p.F250V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	250	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F250V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ATGTCAGAAAAATGGGAGATG	0.398																																						uc001ape.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(748-750)TTT>GTT		atrophin-1 like protein isoform a							78.0	89.0	85.0					1																	8601355		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8601355A>C	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.748T>G	1.37:g.8601355A>C	ENSP00000338629:p.Phe250Val					RERE_uc001apf.2_Missense_Mutation_p.F250V|RERE_uc001aph.1_Missense_Mutation_p.F250V	p.F250V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	8	1558	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	250			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.748T>G	CCDS95.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742548	0.69418	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	D;D;D	0.85411	-1.98;-1.98;-1.98	5.78	5.78	0.91487	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.85869	0.5797	N	0.17474	0.49	0.58432	D	0.999999	D	0.69078	0.997	D	0.79108	0.992	D	0.86032	0.1514	9	0.36615	T	0.2	-9.1802	14.9379	0.70970	1.0:0.0:0.0:0.0	.	250	Q9P2R6	RERE_HUMAN	V	250	ENSP00000338629:F250V;ENSP00000383699:F250V;ENSP00000383700:F250V	ENSP00000338629:F250V	F	-	1	0	RERE	8523942	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.114000	0.94329	2.220000	0.72140	0.533000	0.62120	TTT		0.398	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1				60	64	0	0	0	0.01441	0	60	64		
MASP2	10747	broad.mit.edu	37	1	11097837	11097837	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:11097837A>G	ENST00000400897.3	-	7	936	c.921T>C	c.(919-921)ccT>ccC	p.P307P		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	307	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.P307P(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGTGGCCATTAGGTGGCGCCA	0.507											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(35;611 746 20780 22741 36496)	uc001aru.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(919-921)CCT>CCC		mannan-binding lectin serine protease 2 isoform							132.0	127.0	129.0					1																	11097837		2203	4300	6503	SO:0001819	synonymous_variant	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11097837A>G	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.921T>C	1.37:g.11097837A>G			OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	669		p.P307P	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	7	942	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	307			Sushi 1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	ENST00000400897.3	37	c.921T>C	CCDS123.1																																																																																				0.507	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1		NM_006610		25	130	0	0	0	0.01892	0	25	130		
PRAMEF12	390999	broad.mit.edu	37	1	12835714	12835714	+	Missense_Mutation	SNP	C	C	T	rs377506368		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:12835714C>T	ENST00000357726.4	+	2	343	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	106					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R106W(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGACTTGCGGAATGTGGA	0.512																																						uc001aui.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(316-318)CGG>TGG		PRAME family member 12		C	TRP/ARG	2,4326		0,2,2162	155.0	175.0	169.0		316	2.8	0.0	1		169	0,8582		0,0,4291	no	missense	PRAMEF12	NM_001080830.1	101	0,2,6453	TT,TC,CC		0.0,0.0462,0.0155	probably-damaging	106/484	12835714	2,12908	2164	4291	6455	SO:0001583	missense	390999							g.chr1:12835714C>T		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.316C>T	1.37:g.12835714C>T	ENSP00000350358:p.Arg106Trp						p.R106W	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	343	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	106						Missense_Mutation	SNP	ENST00000357726.4	37	c.316C>T	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.454408	0.43634	4.62E-4	0.0	ENSG00000116726	ENST00000357726	T	0.04970	3.52	2.8	2.8	0.32819	.	0.177026	0.36066	N	0.002809	T	0.25754	0.0627	M	0.90977	3.165	0.09310	N	1	D	0.76494	0.999	D	0.65233	0.933	T	0.03662	-1.1015	10	0.72032	D	0.01	.	9.2594	0.37603	0.0:1.0:0.0:0.0	.	106	O95522	PRA12_HUMAN	W	106	ENSP00000350358:R106W	ENSP00000350358:R106W	R	+	1	2	PRAMEF12	12758301	0.000000	0.05858	0.011000	0.14972	0.034000	0.12701	-1.068000	0.03447	1.861000	0.53984	0.313000	0.20887	CGG		0.512	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1		XM_372760		51	333	0	0	0	0.01441	0	51	333		
CAPZB	832	broad.mit.edu	37	1	19670914	19670914	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:19670914T>C	ENST00000375142.1	-	8	715	c.669A>G	c.(667-669)aaA>aaG	p.K223K	CAPZB_ENST00000433834.1_Silent_p.K252K|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000401084.2_Silent_p.K223K|CAPZB_ENST00000264202.6_Silent_p.K223K|CAPZB_ENST00000375144.1_Silent_p.K211K	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	223					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K223K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TACTTCTGATTTTATTTTCCA	0.517											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ocz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(754-756)AAA>AAG		F-actin capping protein beta subunit							188.0	189.0	188.0					1																	19670914		2035	4177	6212	SO:0001819	synonymous_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19670914T>C	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.669A>G	1.37:g.19670914T>C			OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735	CAPZB_uc001bce.2_Silent_p.K223K|CAPZB_uc009vpk.2_Intron|CAPZB_uc001bcd.2_Silent_p.K211K	p.K252K	NM_004930	NP_004921	P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	8	1184	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	223					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	ENST00000375142.1	37	c.756A>G	CCDS55579.1																																																																																				0.517	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1				31	112	0	0	0	0.012213	0	31	112		
BMP8B	656	broad.mit.edu	37	1	40228856	40228856	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:40228856G>A	ENST00000372827.3	-	6	1342	c.967C>T	c.(967-969)Caa>Taa	p.Q323*	PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	323					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)		p.Q323*(1)		endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGTAGCCTTGGGGAGCGATG	0.622																																						uc001cdz.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(967-969)CAA>TAA		bone morphogenetic protein 8B preproprotein							173.0	138.0	150.0					1																	40228856		2203	4300	6503	SO:0001587	stop_gained	656				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:40228856G>A	BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1075	protein-coding gene	gene with protein product	"""osteogenic protein 2"""	602284	"""bone morphogenetic protein 8 (osteogenic protein 2)"""	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.967C>T	1.37:g.40228856G>A	ENSP00000361915:p.Gln323*					PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron	p.Q323*	NM_001720	NP_001711	P34820	BMP8B_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		6	1343	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-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;0.0255)	323					E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Nonsense_Mutation	SNP	ENST00000372827.3	37	c.967C>T	CCDS444.1	.	.	.	.	.	.	.	.	.	.	G	39	7.322116	0.98210	.	.	ENSG00000116985	ENST00000372827	.	.	.	3.75	3.75	0.43078	.	0.226763	0.36338	U	0.002649	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	14.4873	0.67626	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000361915:Q323X	Q	-	1	0	BMP8B	40001443	0.081000	0.21417	1.000000	0.80357	0.916000	0.54674	1.234000	0.32660	1.917000	0.55516	0.561000	0.74099	CAA		0.622	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025641.1		NM_001720		39	142	0	0	0	0.007835	0	39	142		
FGGY	55277	broad.mit.edu	37	1	59787249	59787249	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:59787249A>T	ENST00000303721.7	+	2	202	c.28A>T	c.(28-30)Agg>Tgg	p.R10W	FGGY_ENST00000371212.1_Missense_Mutation_p.R10W|FGGY_ENST00000371218.4_Missense_Mutation_p.R10W|FGGY_ENST00000474476.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	10					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.R10W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GAAACCAGAGAGGTACTATGT	0.493																																						uc001czi.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(28-30)AGG>TGG		FGGY carbohydrate kinase domain containing							87.0	81.0	83.0					1																	59787249		1568	3582	5150	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59787249A>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.28A>T	1.37:g.59787249A>T	ENSP00000305922:p.Arg10Trp					FGGY_uc001czg.2_5'UTR|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.R10W|FGGY_uc001czj.3_Missense_Mutation_p.R10W|FGGY_uc001czk.3_Intron|FGGY_uc001czl.3_Missense_Mutation_p.R10W	p.R10W	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			2	240	+	all_cancers(7;7.36e-05)		10					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.28A>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197920	0.38806	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.32023	1.47;2.87;2.88;1.88	5.2	-1.69	0.08186	.	1.540600	0.03306	N	0.189761	T	0.24198	0.0586	L	0.48877	1.53	0.09310	N	1	B;P;B;B	0.36712	0.002;0.566;0.0;0.0	B;B;B;B	0.32393	0.006;0.145;0.001;0.001	T	0.17048	-1.0382	9	.	.	.	5.5278	5.5404	0.17036	0.3093:0.5065:0.0676:0.1166	.	10;10;10;10	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	W	10	ENSP00000406607:R10W;ENSP00000360262:R10W;ENSP00000305922:R10W;ENSP00000360256:R10W	.	R	+	1	2	FGGY	59559837	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.562000	0.23531	-0.467000	0.06932	0.533000	0.62120	AGG		0.493	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2		NM_001113411		7	24	0	0	0	0.006214	0	7	24		
EFCAB7	84455	broad.mit.edu	37	1	64027423	64027423	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:64027423T>C	ENST00000371088.4	+	11	1638	c.1392T>C	c.(1390-1392)ttT>ttC	p.F464F	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	464							calcium ion binding (GO:0005509)	p.F464F(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GACAAGGATTTATGGATTTGA	0.318																																						uc001dbf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1390-1392)TTT>TTC		EF-hand calcium binding domain 7							69.0	71.0	70.0					1																	64027423		2203	4300	6503	SO:0001819	synonymous_variant	84455						calcium ion binding	g.chr1:64027423T>C	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1392T>C	1.37:g.64027423T>C							p.F464F	NM_032437	NP_115813	A8K855	EFCB7_HUMAN			11	1686	+			464					Q658P0|Q96B95|Q96JM6	Silent	SNP	ENST00000371088.4	37	c.1392T>C	CCDS30737.1																																																																																				0.318	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1		NM_032437		5	53	0	0	0	0.001984	0	5	53		
BCL10	8915	broad.mit.edu	37	1	85741980	85741980	+	Splice_Site	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:85741980T>A	ENST00000370580.1	-	1	793	c.56A>T	c.(55-57)gAc>gTc	p.D19V	RP11-131L23.1_ENST00000426125.1_RNA|RP11-131L23.1_ENST00000427819.1_RNA	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	19	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.D19V(1)		haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		GTTACTCACGTCCTTCTTCAC	0.682			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)	uc001dkz.2		NaN		Dom	yes		1	1p22	8915	T	B-cell CLL/lymphoma 10			L	IGH@		MALT 		1	Substitution - Missense(1)		urinary_tract(1)	lung(2)	2						c.(55-57)GAC>GTC		B-cell CLL/lymphoma 10							68.0	62.0	64.0					1																	85741980		2203	4300	6503	SO:0001630	splice_region_variant	8915				apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr1:85741980T>A	AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.57+1A>T	1.37:g.85741980T>A						uc001dla.1_5'Flank	p.D19V	NM_003921	NP_003912	O95999	BCL10_HUMAN		all cancers(265;0.0114)|Epithelial(280;0.0311)	2	761	-			19			CARD.		Q5VUF1	Missense_Mutation	SNP	ENST00000370580.1	37	c.56A>T	CCDS704.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742848	0.89573	.	.	ENSG00000142867	ENST00000370580;ENST00000271015;ENST00000394761	T	0.22336	1.96	5.23	5.23	0.72850	DEATH-like (2);Caspase Recruitment (2);	0.255751	0.43416	D	0.000568	T	0.21427	0.0516	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.04708	-1.0932	10	0.62326	D	0.03	-18.4437	14.9413	0.70994	0.0:0.0:0.0:1.0	.	19	O95999	BCL10_HUMAN	V	19	ENSP00000359612:D19V	ENSP00000271015:D19V	D	-	2	0	BCL10	85514568	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.429000	0.59901	2.202000	0.70862	0.379000	0.24179	GAC		0.682	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027612.1		NM_003921	Missense_Mutation	28	99	0	0	0	0.010818	0	28	99		
MOV10	4343	broad.mit.edu	37	1	113217556	113217556	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:113217556C>G	ENST00000413052.2	+	2	412	c.22C>G	c.(22-24)Cgg>Ggg	p.R8G	MOV10_ENST00000369645.1_Missense_Mutation_p.R8G|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000544796.1_Missense_Mutation_p.R8G|MOV10_ENST00000369644.1_5'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R8G	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	8					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.R8G(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTTCAGCTGCCGGCAGCTCCG	0.637																																						uc001eck.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(22-24)CGG>GGG		Mov10, Moloney leukemia virus 10, homolog							42.0	51.0	48.0					1																	113217556		2203	4298	6501	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	g.chr1:113217556C>G	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.22C>G	1.37:g.113217556C>G	ENSP00000399797:p.Arg8Gly					MOV10_uc001ecl.2_Missense_Mutation_p.R8G|MOV10_uc001ecn.2_Missense_Mutation_p.R8G|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR	p.R8G	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	2	292	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	8					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.22C>G	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507212	0.44558	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000544796;ENST00000285733;ENST00000357443	D;D;D	0.91740	-2.9;-2.9;-2.9	4.71	2.77	0.32553	.	1.276940	0.05330	N	0.528120	T	0.73118	0.3546	N	0.19112	0.55	0.29580	N	0.84924	B;B	0.26258	0.004;0.145	B;B	0.20577	0.003;0.03	T	0.64089	-0.6489	10	0.51188	T	0.08	-9.8687	3.6062	0.08043	0.1757:0.5637:0.1696:0.0911	.	8;8	Q9H8T8;Q9HCE1	.;MOV10_HUMAN	G	8	ENSP00000399797:R8G;ENSP00000358659:R8G;ENSP00000350028:R8G	ENSP00000285733:R8G	R	+	1	2	MOV10	113019079	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.988000	0.29616	0.656000	0.30886	0.555000	0.69702	CGG		0.637	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1		NM_020963		20	69	0	0	0	0.00632	0	20	69		
NES	10763	broad.mit.edu	37	1	156639511	156639511	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:156639511T>C	ENST00000368223.3	-	4	4601	c.4469A>G	c.(4468-4470)cAg>cGg	p.Q1490R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1490	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.Q1490R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCACTGTCCTGGGACTCCGT	0.587																																						uc001fpq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)	6						c.(4468-4470)CAG>CGG		nestin							49.0	51.0	50.0					1																	156639511		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639511T>C	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4469A>G	1.37:g.156639511T>C	ENSP00000357206:p.Gln1490Arg						p.Q1490R	NM_006617	NP_006608	P48681	NEST_HUMAN			4	4602	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1490			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4469A>G	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250812	0.39797	.	.	ENSG00000132688	ENST00000368223	D	0.87179	-2.22	4.82	0.921	0.19403	.	0.278798	0.19372	N	0.115887	T	0.67655	0.2916	L	0.51422	1.61	0.25284	N	0.989413	B	0.14805	0.011	B	0.14023	0.01	T	0.62163	-0.6912	10	0.54805	T	0.06	.	5.0109	0.14312	0.15:0.1769:0.0:0.673	.	1490	P48681	NEST_HUMAN	R	1490	ENSP00000357206:Q1490R	ENSP00000357206:Q1490R	Q	-	2	0	NES	154906135	0.005000	0.15991	1.000000	0.80357	0.908000	0.53690	0.356000	0.20181	0.698000	0.31739	0.455000	0.32223	CAG		0.587	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617		20	81	0	0	0	0.007413	0	20	81		
SELP	6403	broad.mit.edu	37	1	169578782	169578782	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:169578782A>G	ENST00000263686.6	-	8	1330	c.1293T>C	c.(1291-1293)gaT>gaC	p.D431D	SELP_ENST00000367792.2_Silent_p.D369D|SELP_ENST00000367793.2_Silent_p.D369D|SELP_ENST00000367786.2_Silent_p.D369D|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Silent_p.D369D|SELP_ENST00000367794.2_Silent_p.D369D|SELP_ENST00000367788.2_Silent_p.D369D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	431	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.D431D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GTCCCAAGTTATCACACCGAA	0.488																																						uc001ggi.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1291-1293)GAT>GAC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						175.0	143.0	154.0					1																	169578782		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169578782A>G	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1293T>C	1.37:g.169578782A>G						SELP_uc001ggh.2_Silent_p.D266D|SELP_uc009wvr.2_Silent_p.D431D	p.D431D	NM_003005	NP_002996	P16109	LYAM3_HUMAN			8	1358	-	all_hematologic(923;0.208)		431			Sushi 4.|Extracellular (Potential).		Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.1293T>C	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	A	4.955	0.177430	0.09443	.	.	ENSG00000174175	ENST00000446728	.	.	.	5.74	-5.47	0.02600	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	12.819	0.57681	0.244:0.1157:0.6403:0.0	.	.	.	.	Q	369	.	.	X	-	1	0	SELP	167845406	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-2.100000	0.01345	-0.799000	0.04439	0.528000	0.53228	TAA		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4		NM_003005		42	32	0	0	0	0.01441	0	42	32		
DNM3	26052	broad.mit.edu	37	1	172007570	172007570	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:172007570G>A	ENST00000355305.5	+	7	1118	c.961G>A	c.(961-963)Gac>Aac	p.D321N	DNM3_ENST00000358155.4_Missense_Mutation_p.D321N|DNM3_ENST00000367731.1_Missense_Mutation_p.D321N|DNM3_ENST00000520906.1_Missense_Mutation_p.D321N|DNM3_ENST00000367733.2_Missense_Mutation_p.D321N			Q9UQ16	DYN3_HUMAN	dynamin 3	321					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D321N(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAACCAGAAGACCCAACAAG	0.418																																						uc001gie.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(961-963)GAC>AAC		dynamin 3 isoform a							162.0	153.0	156.0					1																	172007570		1840	4092	5932	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172007570G>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.961G>A	1.37:g.172007570G>A	ENSP00000347457:p.Asp321Asn					DNM3_uc001gid.3_Missense_Mutation_p.D321N|DNM3_uc009wwb.2_Missense_Mutation_p.D321N|DNM3_uc001gif.2_Missense_Mutation_p.D321N	p.D321N	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			7	1137	+			321					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.961G>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.252441	0.80135	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	L	0.56396	1.775	0.80722	D	1	B;B;B;B	0.30664	0.128;0.239;0.239;0.289	B;B;B;B	0.40477	0.248;0.116;0.186;0.33	T	0.72966	-0.4131	10	0.66056	D	0.02	.	19.1377	0.93435	0.0:0.0:1.0:0.0	.	321;321;321;321	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	N	321;321;321;321;321;321;211	ENSP00000350876:D321N;ENSP00000356707:D321N;ENSP00000347457:D321N;ENSP00000356705:D321N;ENSP00000429701:D321N;ENSP00000429416:D211N	ENSP00000347457:D321N	D	+	1	0	DNM3	170274193	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	9.807000	0.99171	2.868000	0.98415	0.555000	0.69702	GAC		0.418	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1		NM_015569		90	78	0	0	0	0.01441	0	90	78		
XPR1	9213	broad.mit.edu	37	1	180843064	180843064	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:180843064A>G	ENST00000367590.4	+	13	1992	c.1794A>G	c.(1792-1794)ccA>ccG	p.P598P	XPR1_ENST00000367589.3_Silent_p.P533P	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	598	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				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.P598P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTGCCCCACTTGAGGTTT	0.363																																						uc001goi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1792-1794)CCA>CCG		xenotropic and polytropic retrovirus receptor							102.0	89.0	93.0					1																	180843064		2203	4300	6503	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180843064A>G	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.1794A>G	1.37:g.180843064A>G						XPR1_uc009wxn.2_Silent_p.P533P	p.P598P	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			13	1986	+			598			EXS.|Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.1794A>G	CCDS1340.1																																																																																				0.363	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736		40	37	0	0	0	0.007835	0	40	37		
TRAF5	7188	broad.mit.edu	37	1	211529792	211529792	+	Silent	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:211529792T>A	ENST00000261464.5	+	4	414	c.360T>A	c.(358-360)gtT>gtA	p.V120V	TRAF5_ENST00000367004.3_Silent_p.V120V|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Silent_p.V120V|TRAF5_ENST00000427925.2_Silent_p.V120V	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	120			V -> G (in dbSNP:rs3946808).		apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V120V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		ATGCCAAGGTTATTCTGGGCC	0.378																																						uc001hih.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|breast(2)|ovary(1)	5						c.(358-360)GTT>GTA		TNF receptor-associated factor 5							150.0	139.0	143.0					1																	211529792		2203	4300	6503	SO:0001819	synonymous_variant	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211529792T>A	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.360T>A	1.37:g.211529792T>A						TRAF5_uc001hii.2_Silent_p.V120V|TRAF5_uc010psx.1_Silent_p.V120V|TRAF5_uc010psy.1_Silent_p.V120V|TRAF5_uc001hij.2_Silent_p.V120V	p.V120V	NM_004619	NP_004610	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	4	420	+			120					B4DIS9|B4E0A2|Q6FHY1	Silent	SNP	ENST00000261464.5	37	c.360T>A	CCDS1497.1																																																																																				0.378	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1		NM_004619		21	154	0	0	0	0.014323	0	21	154		
CUBN	8029	broad.mit.edu	37	10	16911660	16911660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:16911660C>T	ENST00000377833.4	-	59	9494	c.9429G>A	c.(9427-9429)tgG>tgA	p.W3143*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3143	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.W3143*(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGACATCTTCCAGCCTTTTG	0.448																																						uc001ioo.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9427-9429)TGG>TGA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						151.0	165.0	160.0					10																	16911660		2203	4300	6503	SO:0001587	stop_gained	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16911660C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9429G>A	10.37:g.16911660C>T	ENSP00000367064:p.Trp3143*					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Nonsense_Mutation_p.W499*	p.W3143*	NM_001081	NP_001072	O60494	CUBN_HUMAN			59	9481	-			3143			CUB 23.		B0YIZ4|Q5VTA6|Q96RU9	Nonsense_Mutation	SNP	ENST00000377833.4	37	c.9429G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	49	15.921923	0.99849	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.54	5.54	0.83059	.	0.173157	0.28296	N	0.015871	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.2578	0.90025	0.0:1.0:0.0:0.0	.	.	.	.	X	3143	.	ENSP00000367064:W3143X	W	-	3	0	CUBN	16951666	1.000000	0.71417	0.988000	0.46212	0.121000	0.20230	5.544000	0.67231	2.596000	0.87737	0.650000	0.86243	TGG		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		149	201	0	0	0	0.01441	0	149	201		
CUBN	8029	broad.mit.edu	37	10	16911845	16911845	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:16911845C>G	ENST00000377833.4	-	59	9309	c.9244G>C	c.(9244-9246)Gat>Cat	p.D3082H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3082	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.D3082H(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACATCAAAATCACTGAACCTG	0.413																																						uc001ioo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9244-9246)GAT>CAT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						102.0	96.0	98.0					10																	16911845		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16911845C>G	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9244G>C	10.37:g.16911845C>G	ENSP00000367064:p.Asp3082His					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.D438H	p.D3082H	NM_001081	NP_001072	O60494	CUBN_HUMAN			59	9296	-			3082			CUB 23.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.9244G>C	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084112	0.36758	.	.	ENSG00000107611	ENST00000377833	T	0.19532	2.14	5.69	5.69	0.88448	CUB (5);	0.000000	0.46758	D	0.000276	T	0.23410	0.0566	L	0.57130	1.785	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.01805	-1.1270	10	0.45353	T	0.12	.	12.6718	0.56872	0.0:0.9208:0.0:0.0792	.	3082	O60494	CUBN_HUMAN	H	3082	ENSP00000367064:D3082H	ENSP00000367064:D3082H	D	-	1	0	CUBN	16951851	0.065000	0.20965	0.977000	0.42913	0.971000	0.66376	0.549000	0.23329	2.692000	0.91855	0.655000	0.94253	GAT		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		38	57	0	0	0	0.006999	0	38	57		
ARMC3	219681	broad.mit.edu	37	10	23290965	23290965	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:23290965A>G	ENST00000298032.5	+	12	1627	c.1543A>G	c.(1543-1545)Aat>Gat	p.N515D	ARMC3_ENST00000409983.3_Missense_Mutation_p.N515D|ARMC3_ENST00000376528.4_Missense_Mutation_p.N252D|ARMC3_ENST00000409049.3_Missense_Mutation_p.N515D	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	515						extracellular vesicular exosome (GO:0070062)		p.N515D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTGACGGCCAATGAATTATG	0.532																																						uc001irm.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1543-1545)AAT>GAT		armadillo repeat containing 3							105.0	88.0	94.0					10																	23290965		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23290965A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1543A>G	10.37:g.23290965A>G	ENSP00000298032:p.Asn515Asp					ARMC3_uc010qcv.1_Missense_Mutation_p.N515D|ARMC3_uc010qcw.1_Missense_Mutation_p.N252D	p.N515D	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			12	1626	+			515					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1543A>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557893	0.45590	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.63255	-0.03;-0.03;1.18;0.83	5.91	-7.29	0.01451	Armadillo-like helical (1);	1.710990	0.03008	N	0.149062	T	0.35451	0.0932	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.13407	0.005;0.009	T	0.30031	-0.9992	10	0.11182	T	0.66	0.1155	9.3847	0.38336	0.1771:0.1901:0.6328:0.0	.	515;515	Q5W041-4;Q5W041	.;ARMC3_HUMAN	D	515;515;451;515;252	ENSP00000298032:N515D;ENSP00000386943:N515D;ENSP00000387288:N515D;ENSP00000365711:N252D	ENSP00000298032:N515D	N	+	1	0	ARMC3	23330971	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.765000	0.04730	-0.942000	0.03695	0.533000	0.62120	AAT		0.532	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2		NM_173081		13	23	0	0	0	0.020292	0	13	23		
DLG5	9231	broad.mit.edu	37	10	79567584	79567584	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:79567584T>G	ENST00000372391.2	-	25	4771	c.4766A>C	c.(4765-4767)aAg>aCg	p.K1589T	DLG5_ENST00000372388.2_Missense_Mutation_p.K1249T|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1589					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.K1589T(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGCAGGCCCTTGGCCTTCGT	0.572																																						uc001jzk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|breast(3)	8						c.(4765-4767)AAG>ACG		discs large homolog 5							110.0	93.0	98.0					10																	79567584		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79567584T>G	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4766A>C	10.37:g.79567584T>G	ENSP00000361467:p.Lys1589Thr					DLG5_uc001jzi.2_Missense_Mutation_p.K344T|DLG5_uc001jzj.2_Missense_Mutation_p.K1004T|DLG5_uc009xru.1_RNA	p.K1589T	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		25	4836	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1589					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.4766A>C	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.605527	0.87157	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.07114	3.4;3.22;3.42	5.74	4.59	0.56863	PDZ/DHR/GLGF (1);	0.178426	0.27294	N	0.020023	T	0.24005	0.0581	M	0.72894	2.215	0.45366	D	0.998351	P;D	0.65815	0.865;0.995	P;D	0.63703	0.653;0.917	T	0.00527	-1.1688	10	0.72032	D	0.01	.	10.756	0.46237	0.0:0.0784:0.0:0.9216	.	1589;1249	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	T	1589;550;1249	ENSP00000361467:K1589T;ENSP00000394797:K550T;ENSP00000361464:K1249T	ENSP00000361464:K1249T	K	-	2	0	DLG5	79237590	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	2.996000	0.49449	1.098000	0.41479	0.459000	0.35465	AAG		0.572	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2				20	129	0	0	0	0.016522	0	20	129		
POLR3A	11128	broad.mit.edu	37	10	79769683	79769683	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:79769683G>A	ENST00000372371.3	-	13	1846	c.1709C>T	c.(1708-1710)tCa>tTa	p.S570L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	570					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.S570L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AACCAGTATTGAAGCAATGAT	0.453																																						uc001jzn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1708-1710)TCA>TTA		polymerase (RNA) III (DNA directed) polypeptide							113.0	101.0	105.0					10																	79769683		2203	4300	6503	SO:0001583	missense	11128				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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79769683G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1709C>T	10.37:g.79769683G>A	ENSP00000361446:p.Ser570Leu						p.S570L	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		13	1803	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		570					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1709C>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139889	0.56936	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.76968	-1.06	5.42	5.42	0.78866	RNA polymerase Rpb1, domain 3 (1);	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	M	0.62266	1.93	0.80722	D	1	P	0.35527	0.507	B	0.34590	0.186	T	0.74802	-0.3541	9	.	.	.	-12.2116	19.5838	0.95484	0.0:0.0:1.0:0.0	.	570	O14802	RPC1_HUMAN	L	570	ENSP00000361446:S570L	.	S	-	2	0	POLR3A	79439689	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.307000	0.96226	2.704000	0.92352	0.655000	0.94253	TCA		0.453	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1		NM_007055		21	50	0	0	0	0.008871	0	21	50		
ATRNL1	26033	broad.mit.edu	37	10	117607452	117607452	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:117607452T>G	ENST00000355044.3	+	28	4094	c.3968T>G	c.(3967-3969)tTt>tGt	p.F1323C	ATRNL1_ENST00000423111.2_Missense_Mutation_p.F374C|ATRNL1_ENST00000303745.7_Missense_Mutation_p.F116C	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1323					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.F1323C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTGACTGTGTTTCTTTGTCTA	0.473																																						uc001lcg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3967-3969)TTT>TGT		attractin-like 1 precursor							144.0	129.0	134.0					10																	117607452		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117607452T>G	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3968T>G	10.37:g.117607452T>G	ENSP00000347152:p.Phe1323Cys					ATRNL1_uc010qsm.1_Missense_Mutation_p.F452C|ATRNL1_uc010qsn.1_RNA	p.F1323C	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	28	4354	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1323			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3968T>G	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.300925	0.60195	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T	0.25414	2.35;1.8	5.57	5.57	0.84162	.	0.114163	0.64402	D	0.000011	T	0.33381	0.0861	M	0.72118	2.19	0.44694	D	0.997688	P;P	0.46277	0.688;0.875	B;B	0.41510	0.135;0.359	T	0.29150	-1.0021	10	0.87932	D	0	-20.6879	15.7219	0.77718	0.0:0.0:0.0:1.0	.	374;1323	B4DH41;Q5VV63	.;ATRN1_HUMAN	C	1323;374;116	ENSP00000347152:F1323C;ENSP00000409624:F374C	ENSP00000307660:F116C	F	+	2	0	ATRNL1	117597442	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.988000	0.76212	2.118000	0.64928	0.477000	0.44152	TTT		0.473	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349		30	59	0	0	0	0.013726	0	30	59		
EIF3A	8661	broad.mit.edu	37	10	120801833	120801833	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:120801833G>A	ENST00000369144.3	-	19	3326	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1033W	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTGGGACCCCGGTCATCATCA	0.632																																						uc001ldu.2		NaN																	0					0						c.(3199-3201)CGG>TGG		eukaryotic translation initiation factor 3,							190.0	171.0	177.0					10																	120801833		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801833G>A	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3199C>T	10.37:g.120801833G>A	ENSP00000358140:p.Arg1067Trp					EIF3A_uc010qsu.1_Missense_Mutation_p.R1033W|EIF3A_uc009xzg.1_Missense_Mutation_p.R106W	p.R1067W	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3345	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1067			15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3199C>T	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	9.076	0.998047	0.19043	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.27402	1.68;1.67	4.48	0.833	0.18875	.	.	.	.	.	T	0.49236	0.1545	M	0.80183	2.485	0.45205	D	0.998215	D;D	0.71674	0.998;0.997	P;P	0.56474	0.799;0.451	T	0.59445	-0.7453	9	0.62326	D	0.03	-9.7218	14.0573	0.64776	0.0:0.0:0.4405:0.5595	.	1033;1067	F5H335;Q14152	.;EIF3A_HUMAN	W	1067;1033	ENSP00000358140:R1067W;ENSP00000438178:R1033W	ENSP00000358140:R1067W	R	-	1	2	EIF3A	120791823	0.004000	0.15560	0.002000	0.10522	0.018000	0.09664	0.011000	0.13264	0.268000	0.21939	0.655000	0.94253	CGG		0.632	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1		NM_003750		63	311	0	0	0	0.01441	0	63	311		
CTBP2	1488	broad.mit.edu	37	10	126727575	126727575	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:126727575T>A	ENST00000337195.5	-	3	448	c.49A>T	c.(49-51)Att>Ttt	p.I17F	CTBP2_ENST00000531469.1_Missense_Mutation_p.I17F|CTBP2_ENST00000494626.2_Missense_Mutation_p.I17F|CTBP2_ENST00000411419.2_Missense_Mutation_p.I17F|CTBP2_ENST00000476817.1_5'UTR	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	17					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)	p.I17F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTCACAAATTCTGTCCAAT	0.468																																						uc009yak.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(49-51)ATT>TTT		C-terminal binding protein 2 isoform 1							158.0	145.0	150.0					10																	126727575		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126727575T>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.49A>T	10.37:g.126727575T>A	ENSP00000338615:p.Ile17Phe					CTBP2_uc009yal.2_Missense_Mutation_p.I17F|CTBP2_uc001lif.3_Missense_Mutation_p.I17F|CTBP2_uc001lih.3_Missense_Mutation_p.I17F	p.I17F	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	3	336	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	17					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.49A>T	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.534035	0.64972	.	.	ENSG00000175029	ENST00000337195;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.28	5.28	0.74379	.	.	.	.	.	T	0.78155	0.4239	L	0.43152	1.355	0.32203	N	0.577569	B	0.26400	0.148	B	0.21151	0.033	T	0.80906	-0.1173	9	0.66056	D	0.02	.	13.9484	0.64101	0.0:0.0:0.0:1.0	.	17	P56545	CTBP2_HUMAN	F	17	ENSP00000338615:I17F;ENSP00000434630:I17F;ENSP00000436285:I17F;ENSP00000410474:I17F	ENSP00000338615:I17F	I	-	1	0	CTBP2	126717565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.606000	0.67641	2.217000	0.71921	0.533000	0.62120	ATT		0.468	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3		NM_001083914		20	96	0	0	0	0.010504	0	20	96		
INPP5A	3632	broad.mit.edu	37	10	134579295	134579295	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:134579295G>C	ENST00000368594.3	+	12	1199	c.922G>C	c.(922-924)Gag>Cag	p.E308Q	INPP5A_ENST00000368593.3_Missense_Mutation_p.E308Q	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	308					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.E308Q(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GTTTGACAAGGAGTTGTCTGT	0.502																																					Pancreas(63;823 1267 11107 20380 51626)	uc001llp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(922-924)GAG>CAG		inositol polyphosphate-5-phosphatase A							174.0	174.0	174.0					10																	134579295		2203	4300	6503	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134579295G>C	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.922G>C	10.37:g.134579295G>C	ENSP00000357583:p.Glu308Gln					INPP5A_uc001llo.1_Missense_Mutation_p.E308Q|INPP5A_uc001llq.2_Missense_Mutation_p.E203Q	p.E308Q	NM_005539	NP_005530	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	12	1170	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	308					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.922G>C	CCDS7669.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.81|16.81	3.225545|3.225545	0.58668|0.58668	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000432898|ENST00000342652	T;T|.	0.47869|.	0.83;0.83|.	4.25|4.25	3.34|3.34	0.38264|0.38264	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);|.	0.050479|.	0.85682|.	D|.	0.000000|.	T|T	0.75287|0.75287	0.3829|0.3829	M|M	0.85462|0.85462	2.755|2.755	0.51012|0.51012	D|D	0.999908|0.999908	D;D;D|.	0.89917|.	1.0;1.0;0.997|.	D;D;D|.	0.97110|.	1.0;0.998;0.995|.	T|T	0.76523|0.76523	-0.2928|-0.2928	10|5	0.62326|.	D|.	0.03|.	-22.3657|-22.3657	11.1785|11.1785	0.48614|0.48614	0.0933:0.0:0.9067:0.0|0.0933:0.0:0.9067:0.0	.|.	251;308;308|.	F5GWM1;Q14642;Q5T1B5|.	.;I5P1_HUMAN;.|.	Q|A	308;308;251;225|222	ENSP00000357583:E308Q;ENSP00000357582:E308Q|.	ENSP00000357582:E308Q|.	E|G	+|+	1|2	0|0	INPP5A|INPP5A	134429285|134429285	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	7.038000|7.038000	0.76537|0.76537	0.900000|0.900000	0.36469|0.36469	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.502	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1		NM_005539		25	84	0	0	0	0.00632	0	25	84		
SYCE1	93426	broad.mit.edu	37	10	135369108	135369108	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr10:135369108G>T	ENST00000343131.5	-	11	927	c.823C>A	c.(823-825)Cgg>Agg	p.R275R	SYCE1_ENST00000432597.2_Silent_p.R239R|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Silent_p.R239R	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	275	Gln-rich.				synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.R275R(1)|p.R239R(1)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACCTctgccgcttctgctgc	0.587																																						uc001lno.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(823-825)CGG>AGG		synaptonemal complex central element protein 1							28.0	22.0	24.0					10																	135369108		2201	4299	6500	SO:0001819	synonymous_variant	93426				cell division	central element		g.chr10:135369108G>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.823C>A	10.37:g.135369108G>T						CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Silent_p.R147R|SYCE1_uc009ybn.2_Silent_p.R275R|SYCE1_uc001lnn.2_Silent_p.R239R	p.R275R	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	11	928	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	275			Gln-rich.|Potential.		B2RC80|Q9BWU3|Q9BWU4	Silent	SNP	ENST00000343131.5	37	c.823C>A	CCDS44501.1																																																																																				0.587	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_201564		9	22	1	0	2.17888e-05	0.006214	2.275e-05	9	22		
OR51A4	401666	broad.mit.edu	37	11	4967692	4967692	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:4967692A>G	ENST00000380373.2	-	1	664	c.639T>C	c.(637-639)atT>atC	p.I213I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I213I(1)		large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAATGAGAATAAAGTCTA	0.428																																						uc010qys.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(637-639)ATT>ATC		olfactory receptor, family 51, subfamily A,							61.0	56.0	58.0					11																	4967692		2201	4292	6493	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967692A>G	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.639T>C	11.37:g.4967692A>G							p.I213I	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	639	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	213			Helical; Name=5; (Potential).			Silent	SNP	ENST00000380373.2	37	c.639T>C	CCDS31367.1																																																																																				0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1		NM_001005329		18	79	0	0	0	0.021523	0	18	79		
OR51A2	401667	broad.mit.edu	37	11	4976305	4976305	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:4976305A>G	ENST00000380371.1	-	1	638	c.639T>C	c.(637-639)atT>atC	p.I213I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I213I(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCAATGAGAATAAAGTCTA	0.433																																						uc010qyt.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(637-639)ATT>ATC		olfactory receptor, family 51, subfamily A,							60.0	47.0	52.0					11																	4976305		2138	4009	6147	SO:0001819	synonymous_variant	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976305A>G	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.639T>C	11.37:g.4976305A>G							p.I213I	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	639	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	213			Helical; Name=5; (Potential).			Silent	SNP	ENST00000380371.1	37	c.639T>C	CCDS31368.1																																																																																				0.433	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1		NM_001004748		14	16	0	0	0	0.007413	0	14	16		
NLRP14	338323	broad.mit.edu	37	11	7079645	7079645	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:7079645C>T	ENST00000299481.4	+	8	2943	c.2597C>T	c.(2596-2598)gCc>gTc	p.A866V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	866					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.A866V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGAGTGATGCCCTGCAACAT	0.363																																						uc001mfb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2596-2598)GCC>GTC		NLR family, pyrin domain containing 14							191.0	160.0	171.0					11																	7079645		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079645C>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2597C>T	11.37:g.7079645C>T	ENSP00000299481:p.Ala866Val						p.A866V	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2920	+			866					Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2597C>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	6.005	0.369269	0.11352	.	.	ENSG00000158077	ENST00000299481	T	0.54866	0.55	4.2	-0.128	0.13506	.	0.790281	0.10721	N	0.641681	T	0.41696	0.1170	L	0.46947	1.48	0.22779	N	0.998749	B	0.22800	0.075	B	0.24848	0.056	T	0.42103	-0.9471	10	0.72032	D	0.01	.	4.0925	0.09976	0.0:0.5179:0.1745:0.3076	.	866	Q86W24	NAL14_HUMAN	V	866	ENSP00000299481:A866V	ENSP00000299481:A866V	A	+	2	0	NLRP14	7036221	0.997000	0.39634	0.034000	0.17996	0.020000	0.10135	0.792000	0.26929	-0.097000	0.12307	-0.312000	0.09012	GCC		0.363	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1		NM_176822		49	58	0	0	0	0.01441	0	49	58		
COPB1	1315	broad.mit.edu	37	11	14490389	14490389	+	Missense_Mutation	SNP	C	C	A	rs139561241	byFrequency	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:14490389C>A	ENST00000249923.3	-	16	2283	c.1983G>T	c.(1981-1983)agG>agT	p.R661S	COPB1_ENST00000439561.2_Missense_Mutation_p.R661S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	661					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.R661S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTGTCACATTCCTCTTTTCAG	0.378																																						uc001mli.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1981-1983)AGG>AGT		coatomer protein complex, subunit beta 1							188.0	176.0	180.0					11																	14490389		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14490389C>A	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1983G>T	11.37:g.14490389C>A	ENSP00000249923:p.Arg661Ser					COPB1_uc001mlg.2_Missense_Mutation_p.R661S|COPB1_uc001mlh.2_Missense_Mutation_p.R661S	p.R661S	NM_016451	NP_057535	P53618	COPB_HUMAN			16	2290	-			661					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1983G>T	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	5.990	0.366520	0.11352	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.42513	0.97;0.97	5.55	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	N	0.08118	0	0.80722	D	1	B	0.16166	0.016	B	0.14023	0.01	T	0.06807	-1.0806	10	0.09843	T	0.71	.	11.0922	0.48123	0.0:0.7954:0.0:0.2046	.	661	P53618	COPB_HUMAN	S	661	ENSP00000249923:R661S;ENSP00000397873:R661S	ENSP00000249923:R661S	R	-	3	2	COPB1	14446965	0.969000	0.33509	1.000000	0.80357	0.999000	0.98932	0.085000	0.14912	0.284000	0.22305	0.655000	0.94253	AGG		0.378	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1		NM_016451		47	181	1	0	1.66251e-12	0.01441	1.76176e-12	47	181		
INSC	387755	broad.mit.edu	37	11	15212291	15212291	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:15212291A>G	ENST00000379554.3	+	6	811	c.765A>G	c.(763-765)acA>acG	p.T255T	INSC_ENST00000530161.1_Silent_p.T208T|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000379556.3_Silent_p.T208T|INSC_ENST00000424273.1_Silent_p.T208T|INSC_ENST00000528567.1_Silent_p.T208T|INSC_ENST00000525218.1_Silent_p.T208T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	255					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)		p.T255T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCTACACCACAGAGTCCACCA	0.507																																						uc001mly.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(763-765)ACA>ACG		inscuteable isoform a							147.0	152.0	151.0					11																	15212291		1950	4138	6088	SO:0001819	synonymous_variant	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15212291A>G	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.765A>G	11.37:g.15212291A>G						INSC_uc001mlz.2_Silent_p.T208T|INSC_uc001mma.2_Silent_p.T208T|INSC_uc010rcs.1_Silent_p.T243T|INSC_uc001mmb.2_Silent_p.T208T|INSC_uc001mmc.2_Silent_p.T208T	p.T255T	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			6	811	+			255					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Silent	SNP	ENST00000379554.3	37	c.765A>G	CCDS41621.1																																																																																				0.507	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1		NM_001031853		107	150	0	0	0	0.01441	0	107	150		
KCNA4	3739	broad.mit.edu	37	11	30033503	30033503	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:30033503C>T	ENST00000328224.6	-	2	1956	c.723G>A	c.(721-723)ctG>ctA	p.L241L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	241					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.L241L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CTGGCCTCTTCAGGCGGCCTC	0.498																																						uc001msk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(721-723)CTG>CTA		potassium voltage-gated channel, shaker-related							96.0	87.0	89.0					11																	30033503		1868	4125	5993	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033503C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.723G>A	11.37:g.30033503C>T							p.L241L	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1875	-			241						Silent	SNP	ENST00000328224.6	37	c.723G>A	CCDS41629.1																																																																																				0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2		NM_002233		61	99	0	0	0	0.01441	0	61	99		
MYBPC3	4607	broad.mit.edu	37	11	47359095	47359095	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:47359095G>C	ENST00000545968.1	-	25	2503	c.2449C>G	c.(2449-2451)Cgg>Ggg	p.R817G	MYBPC3_ENST00000399249.2_Missense_Mutation_p.R817G|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R816G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	817	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R817G(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGCATCCACCGGTAGCTCTTC	0.607																																						uc001nfa.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(2449-2451)CGG>GGG		myosin binding protein C, cardiac							91.0	95.0	93.0					11																	47359095		2145	4249	6394	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47359095G>C	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.2449C>G	11.37:g.47359095G>C	ENSP00000442795:p.Arg817Gly					MYBPC3_uc010rhl.1_Intron	p.R817G	NM_000256	NP_000247	Q14896	MYPC3_HUMAN		Lung(87;0.176)	24	2504	-			816			Fibronectin type-III 1.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2449C>G	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060217	0.76074	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.55760	0.5;0.5;0.5	4.6	3.66	0.41972	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70894	0.3276	M	0.73753	2.245	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.75167	-0.3413	9	0.87932	D	0	.	13.6629	0.62378	0.0:0.0:0.8393:0.1607	.	816	Q14896	MYPC3_HUMAN	G	817;817;816	ENSP00000442795:R817G;ENSP00000382193:R817G;ENSP00000256993:R816G	ENSP00000256993:R816G	R	-	1	2	MYBPC3	47315671	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.876000	0.56115	1.103000	0.41568	0.561000	0.74099	CGG		0.607	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3				9	43	0	0	0	0.006214	0	9	43		
KIAA1377	57562	broad.mit.edu	37	11	101833686	101833686	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:101833686A>T	ENST00000263468.8	+	6	2190	c.1920A>T	c.(1918-1920)gaA>gaT	p.E640D	KIAA1377_ENST00000537689.1_Missense_Mutation_p.E441D	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	640								p.E640D(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCAATATAGAAAACAATGCTG	0.348																																						uc001pgm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1918-1920)GAA>GAT		hypothetical protein LOC57562							41.0	42.0	42.0					11																	101833686		2203	4298	6501	SO:0001583	missense	57562						protein binding	g.chr11:101833686A>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1920A>T	11.37:g.101833686A>T	ENSP00000263468:p.Glu640Asp					KIAA1377_uc001pgn.2_Missense_Mutation_p.E596D|KIAA1377_uc010run.1_Missense_Mutation_p.E441D|KIAA1377_uc009yxa.1_Missense_Mutation_p.E441D	p.E640D	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2190	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	640					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1920A>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	A	3.543	-0.093261	0.07053	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.08193	3.12;3.12	5.14	-0.0313	0.13910	.	0.808430	0.11454	N	0.562499	T	0.07369	0.0186	L	0.42245	1.32	0.09310	N	1	B	0.23806	0.091	B	0.26517	0.07	T	0.38735	-0.9647	10	0.34782	T	0.22	-1.8455	5.4856	0.16747	0.6955:0.0:0.1841:0.1203	.	640	Q9P2H0	K1377_HUMAN	D	640;441	ENSP00000263468:E640D;ENSP00000443184:E441D	ENSP00000263468:E640D	E	+	3	2	KIAA1377	101338896	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	0.585000	0.23879	-0.199000	0.10317	0.459000	0.35465	GAA		0.348	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1		NM_020802		13	78	0	0	0	0.016723	0	13	78		
ATM	472	broad.mit.edu	37	11	108218083	108218083	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:108218083A>T	ENST00000452508.2	+	60	8851	c.8662A>T	c.(8662-8664)Ata>Tta	p.I2888L	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.I2888L			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2888	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.I2888L(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACTTGTACATATAGATCTAGG	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NaN	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)	p.I2888T(1)	urinary_tract(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8662-8664)ATA>TTA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							85.0	90.0	88.0					11																	108218083		2201	4296	6497	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108218083A>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8662A>T	11.37:g.108218083A>T	ENSP00000388058:p.Ile2888Leu	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.I2888L|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I1540L	p.I2888L	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	59	9047	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2888			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8662A>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865451	0.91511	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.85171	-1.95;-1.95	5.52	5.52	0.82312	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97350	0.9963	10	0.72032	D	0.01	.	15.6511	0.77095	1.0:0.0:0.0:0.0	.	2888	Q13315	ATM_HUMAN	L	2888	ENSP00000278616:I2888L;ENSP00000388058:I2888L	ENSP00000278616:I2888L	I	+	1	0	ATM	107723293	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.679000	0.91220	2.090000	0.63153	0.454000	0.30748	ATA		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051		53	89	0	0	0	0.01441	0	53	89		
CBL	867	broad.mit.edu	37	11	119170369	119170369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr11:119170369C>T	ENST00000264033.4	+	16	2975	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	867	Interaction with CD2AP.|UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q867*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCTCATGAGTCAGGGGTACTC	0.532			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													uc001pwe.2		NaN		"""Dom, Rec"""	yes		11	11q23.3	867		Cas-Br-M (murine) ecotropic retroviral transforming			L					1	Substitution - Nonsense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1)	149						c.(2599-2601)CAG>TAG		Cas-Br-M (murine) ecotropic retroviral							226.0	226.0	226.0					11																	119170369		2199	4295	6494	SO:0001587	stop_gained	867	CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119170369C>T	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2599C>T	11.37:g.119170369C>T	ENSP00000264033:p.Gln867*						p.Q867*	NM_005188	NP_005179	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	16	2737	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	867			Interaction with CD2AP.|UBA.		A3KMP8	Nonsense_Mutation	SNP	ENST00000264033.4	37	c.2599C>T	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	C	42	9.460412	0.99177	.	.	ENSG00000110395	ENST00000264033	.	.	.	5.59	5.59	0.84812	.	0.110914	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-25.6735	19.597	0.95544	0.0:1.0:0.0:0.0	.	.	.	.	X	867	.	ENSP00000264033:Q867X	Q	+	1	0	CBL	118675579	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.648000	0.67930	2.639000	0.89480	0.655000	0.94253	CAG		0.532	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4		NM_005188		267	202	0	0	0	0.01441	0	267	202		
CD27	939	broad.mit.edu	37	12	6554303	6554304	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:6554303_6554304CC>AG	ENST00000266557.3	+	1	271_272	c.42_43CC>AG	c.(40-45)acCCtg>acAGtg	p.L15V	CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	15					cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)	p.T14>?(1)|p.L15V(1)|p.T14T(1)		kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TTCTGGGGACCCTGGTGGGGCT	0.629																																						uc001qod.2		NaN																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)		urinary_tract(3)		0						c.(40-45)ACCCTG>ACAGTG		tumor necrosis factor receptor superfamily,																																				SO:0001583	missense	939				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity	g.chr12:6554303_6554304CC>AG	M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	Exception_encountered	12.37:g.6554303_6554304delinsAG	ENSP00000266557:p.Leu15Val					LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank	p.L15V	NM_001242	NP_001233	P26842	CD27_HUMAN			1	253_254	+			15					B2RDZ0	Missense_Mutation	DNP	ENST00000266557.3	37	c.42_43CC>AG	CCDS8545.1																																																																																				0.629	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399258.1				10	23	0	0	0	0.004672	0	10	23		
SLCO1B7	338821	broad.mit.edu	37	12	21242857	21242857	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:21242857C>T	ENST00000421593.2	+	13	1740	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	LST3_ENST00000381541.3_Silent_p.G627G|SLCO1B7_ENST00000554957.1_Silent_p.G627G|SLCO1B3_ENST00000553473.1_Silent_p.G688G|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000540229.1_Silent_p.G688G	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	580						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G580G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCTTCTTCGGCTTGAAGGTAG	0.299																																						uc010sil.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(2062-2064)GGC>GGT		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							56.0	56.0	56.0					12																	21242857		1826	4089	5915	SO:0001819	synonymous_variant	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.chr12:21242857C>T	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1740C>T	12.37:g.21242857C>T						LST-3TM12_uc010sim.1_Silent_p.G627G|LST-3TM12_uc010sin.1_Silent_p.G580G	p.G688G			Q9NPD5	SO1B3_HUMAN			16	2129	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Silent	SNP	ENST00000421593.2	37	c.2064C>T	CCDS44843.1																																																																																				0.299	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1		NM_001009562		15	48	0	0	0	0.003163	0	15	48		
ABCC9	10060	broad.mit.edu	37	12	22028606	22028606	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:22028606C>G	ENST00000261201.4	-	15	2073	c.2074G>C	c.(2074-2076)Gat>Cat	p.D692H	ABCC9_ENST00000345162.2_Missense_Mutation_p.D656H|ABCC9_ENST00000261200.4_Missense_Mutation_p.D692H|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	692	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.D692H(2)|p.D692Y(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATTCGAATATCTATATTGGAT	0.308																																						uc001rfi.1		NaN																	3	Substitution - Missense(3)		urinary_tract(2)|large_intestine(1)	ovary(4)|skin(2)	6						c.(2074-2076)GAT>CAT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						77.0	77.0	77.0					12																	22028606		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22028606C>G	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2074G>C	12.37:g.22028606C>G	ENSP00000261201:p.Asp692His					ABCC9_uc001rfh.2_Missense_Mutation_p.D692H|ABCC9_uc001rfj.1_Missense_Mutation_p.D656H	p.D692H	NM_005691	NP_005682	O60706	ABCC9_HUMAN			15	2094	-			692			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.2074G>C	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798613	0.50208	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	5.55	3.74	0.42951	ABC transporter-like (1);	0.189340	0.56097	D	0.000035	D	0.90331	0.6975	L	0.35593	1.075	0.33733	D	0.618507	B;P	0.38250	0.356;0.624	B;P	0.44518	0.322;0.452	D	0.91206	0.4995	10	0.49607	T	0.09	-12.656	10.5036	0.44821	0.0:0.7832:0.0:0.2168	.	692;692	O60706;O60706-2	ABCC9_HUMAN;.	H	692;319;692;656	ENSP00000261200:D692H;ENSP00000440521:D319H;ENSP00000261201:D692H;ENSP00000261202:D656H	ENSP00000261200:D692H	D	-	1	0	ABCC9	21919873	1.000000	0.71417	0.999000	0.59377	0.793000	0.44817	1.238000	0.32707	0.708000	0.31955	0.484000	0.47621	GAT		0.308	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1		NM_005691		21	123	0	0	0	0.016522	0	21	123		
ITPR2	3709	broad.mit.edu	37	12	26492374	26492374	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:26492374C>T	ENST00000381340.3	-	57	8478	c.8062G>A	c.(8062-8064)Gga>Aga	p.G2688R	RP11-612B6.2_ENST00000537724.1_lincRNA|RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2688					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.G2688R(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTGTTTGATCCGAGGAAGCCC	0.502																																						uc001rhg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(8062-8064)GGA>AGA		inositol 1,4,5-triphosphate receptor, type 2							144.0	151.0	149.0					12																	26492374		1967	4153	6120	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26492374C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.8062G>A	12.37:g.26492374C>T	ENSP00000370744:p.Gly2688Arg						p.G2688R	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			57	8479	-	Colorectal(261;0.0847)		2688			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.8062G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967459	0.92855	.	.	ENSG00000123104	ENST00000381340	D	0.91792	-2.91	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.92234	0.7537	L	0.32530	0.975	0.80722	D	1	D	0.69078	0.997	P	0.56916	0.809	D	0.91127	0.4934	10	0.32370	T	0.25	.	18.9022	0.92448	0.0:1.0:0.0:0.0	.	2688	Q14571	ITPR2_HUMAN	R	2688	ENSP00000370744:G2688R	ENSP00000370744:G2688R	G	-	1	0	ITPR2	26383641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.074000	0.76791	2.534000	0.85438	0.650000	0.86243	GGA		0.502	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		7	76	0	0	0	0.004482	0	7	76		
SLC4A8	9498	broad.mit.edu	37	12	51856143	51856143	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:51856143C>T	ENST00000453097.2	+	10	1368	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	SLC4A8_ENST00000535225.2_Missense_Mutation_p.A331V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A331V|SLC4A8_ENST00000514353.3_Missense_Mutation_p.A331V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A411V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.A384V(2)|p.A331V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GATCTCCTGGCGGGGATTGAT	0.458																																						uc001rys.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	ovary(3)|pancreas(1)|skin(1)	5						c.(1150-1152)GCG>GTG		solute carrier family 4, sodium bicarbonate							123.0	119.0	120.0					12																	51856143		2203	4300	6503	SO:0001583	missense	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51856143C>T	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1151C>T	12.37:g.51856143C>T	ENSP00000405812:p.Ala384Val					SLC4A8_uc010sni.1_Missense_Mutation_p.A331V|SLC4A8_uc001rym.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryn.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryo.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.1_Missense_Mutation_p.A411V|SLC4A8_uc001ryq.3_Missense_Mutation_p.A384V|SLC4A8_uc001ryr.2_Missense_Mutation_p.A384V|SLC4A8_uc010snk.1_Missense_Mutation_p.A331V	p.A384V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	10	1329	+			384			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000453097.2	37	c.1151C>T	CCDS44890.1	.	.	.	.	.	.	.	.	.	.	C	35	5.508203	0.96386	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45	5.02	5.02	0.67125	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.91586	0.7342	M	0.90977	3.165	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.723;0.999;0.991;0.989;0.97	D;B;D;D;D;P	0.68943	0.921;0.216;0.961;0.958;0.93;0.871	D	0.93203	0.6593	10	0.87932	D	0	.	17.9782	0.89132	0.0:1.0:0.0:0.0	.	331;411;331;384;384;384	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6	.;.;.;S4A8_HUMAN;.;.	V	331;411;384;331;384;331;331	ENSP00000441520:A331V;ENSP00000351483:A411V;ENSP00000405812:A384V;ENSP00000378325:A331V;ENSP00000442561:A331V	ENSP00000315789:A384V	A	+	2	0	SLC4A8	50142410	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.772000	0.85439	2.706000	0.92434	0.655000	0.94253	GCG		0.458	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1		NM_004858		33	142	0	0	0	0.013726	0	33	142		
PAN2	9924	broad.mit.edu	37	12	56720613	56720613	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:56720613A>G	ENST00000425394.2	-	7	1426	c.1050T>C	c.(1048-1050)tcT>tcC	p.S350S	PAN2_ENST00000257931.5_Silent_p.S350S|PAN2_ENST00000440411.3_Silent_p.S350S|PAN2_ENST00000548043.1_Silent_p.S350S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.S350S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CACAGCCCTCAGAATCCCCAA	0.557																																						uc001skx.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(1048-1050)TCT>TCC		PAN2 polyA specific ribonuclease subunit homolog							98.0	96.0	97.0					12																	56720613		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56720613A>G	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1050T>C	12.37:g.56720613A>G						PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.S350S|PAN2_uc001sky.2_Silent_p.S350S	p.S350S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			7	1423	-			350						Silent	SNP	ENST00000425394.2	37	c.1050T>C	CCDS44922.1																																																																																				0.557	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1		NM_014871		165	205	0	0	0	0.01441	0	165	205		
LRIG3	121227	broad.mit.edu	37	12	59271541	59271541	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:59271541G>C	ENST00000320743.3	-	15	2463	c.2177C>G	c.(2176-2178)cCt>cGt	p.P726R	LRIG3_ENST00000379141.4_Missense_Mutation_p.P666R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	726	Ig-like C2-type 3.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P726R(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTTCAGTTTAGGGGGAGGGCT	0.488			T	ROS1	NSCLC																																	uc001sqr.2		NaN		Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(2176-2178)CCT>CGT		leucine-rich repeats and immunoglobulin-like							113.0	111.0	112.0					12																	59271541		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59271541G>C	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2177C>G	12.37:g.59271541G>C	ENSP00000326759:p.Pro726Arg					LRIG3_uc009zqh.2_Missense_Mutation_p.P666R|LRIG3_uc010ssh.1_RNA	p.P726R	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2423	-			726			Ig-like C2-type 3.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.2177C>G	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556059	0.65425	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.73469	-0.75;-0.75	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36703	N	0.002441	D	0.92361	0.7576	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94759	0.7934	9	.	.	.	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	666;726	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	R	666;726	ENSP00000368436:P666R;ENSP00000326759:P726R	.	P	-	2	0	LRIG3	57557808	1.000000	0.71417	0.886000	0.34754	0.303000	0.27691	9.779000	0.99018	2.783000	0.95769	0.655000	0.94253	CCT		0.488	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1		NM_153377		33	119	0	0	0	0.012213	0	33	119		
XPOT	11260	broad.mit.edu	37	12	64815090	64815090	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:64815090A>G	ENST00000332707.5	+	9	1448	c.919A>G	c.(919-921)Agt>Ggt	p.S307G		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	307	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.S307G(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGTTAGTTGGAGTAAATTAAT	0.373																																						uc001ssb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(919-921)AGT>GGT		tRNA exportin							119.0	122.0	121.0					12																	64815090		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64815090A>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.919A>G	12.37:g.64815090A>G	ENSP00000327821:p.Ser307Gly					XPOT_uc009zqm.1_Missense_Mutation_p.S217G	p.S307G	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	9	1345	+			307			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.919A>G	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605466	0.28623	.	.	ENSG00000184575	ENST00000332707	T	0.23147	1.92	4.92	4.92	0.64577	Armadillo-type fold (1);	0.195216	0.53938	D	0.000048	T	0.18130	0.0435	N	0.22421	0.69	0.36156	D	0.847804	B	0.06786	0.001	B	0.06405	0.002	T	0.12682	-1.0538	9	.	.	.	.	15.2733	0.73723	1.0:0.0:0.0:0.0	.	307	O43592	XPOT_HUMAN	G	307	ENSP00000327821:S307G	.	S	+	1	0	XPOT	63101357	1.000000	0.71417	1.000000	0.80357	0.122000	0.20287	5.081000	0.64444	2.152000	0.67230	0.533000	0.62120	AGT		0.373	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1		NM_007235		47	166	0	0	0	0.013114	0	47	166		
CNOT2	4848	broad.mit.edu	37	12	70672040	70672040	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:70672040A>T	ENST00000418359.3	+	3	485	c.34A>T	c.(34-36)Aaa>Taa	p.K12*	CNOT2_ENST00000229195.3_Nonsense_Mutation_p.K12*	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	12					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.K12*(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATTATCTGAGAAAAGAAACTA	0.398																																						uc001svv.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(34-36)AAA>TAA		CCR4-NOT transcription complex, subunit 2							148.0	125.0	133.0					12																	70672040		2203	4300	6503	SO:0001587	stop_gained	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70672040A>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.34A>T	12.37:g.70672040A>T	ENSP00000412091:p.Lys12*					CNOT2_uc009zro.2_Nonsense_Mutation_p.K12*|CNOT2_uc009zrp.2_5'UTR|CNOT2_uc009zrq.2_Nonsense_Mutation_p.K12*	p.K12*	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		2	613	+	Renal(347;0.236)		12					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Nonsense_Mutation	SNP	ENST00000418359.3	37	c.34A>T	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	43	9.926806	0.99297	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000547780;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000549750;ENST00000551043;ENST00000550194	.	.	.	5.72	5.72	0.89469	.	0.110120	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8767	12.3844	0.55325	1.0:0.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000229195:K12X	K	+	1	0	CNOT2	68958307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.247000	0.58750	2.179000	0.69175	0.482000	0.46254	AAA		0.398	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1				38	105	0	0	0	0.00623	0	38	105		
SLC5A8	160728	broad.mit.edu	37	12	101595946	101595946	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:101595946A>T	ENST00000536262.2	-	3	1023	c.465T>A	c.(463-465)aaT>aaA	p.N155K	RNU6-768P_ENST00000384683.1_RNA	NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.N155K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGTACCTTGATTCAAAGCCA	0.388																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(463-465)AAT>AAA		solute carrier family 5 (iodide transporter),							59.0	57.0	57.0					12																	101595946		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101595946A>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.465T>A	12.37:g.101595946A>T	ENSP00000445340:p.Asn155Lys						p.N155K	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			3	855	-			155			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000536262.2	37	c.465T>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089115	0.76756	.	.	ENSG00000256870	ENST00000536262	D	0.86769	-2.17	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.94245	0.8152	M	0.88979	2.995	0.58432	D	0.999999	D	0.67145	0.996	D	0.70227	0.968	D	0.95213	0.8327	10	0.87932	D	0	.	15.8895	0.79286	1.0:0.0:0.0:0.0	.	155	Q8N695	SC5A8_HUMAN	K	155	ENSP00000445340:N155K	ENSP00000445340:N155K	N	-	3	2	SLC5A8	100120077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.985000	0.49362	2.153000	0.67306	0.459000	0.35465	AAT		0.388	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1		NM_145913		29	47	0	0	0	0.012213	0	29	47		
PRDM4	11108	broad.mit.edu	37	12	108140192	108140192	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:108140192A>G	ENST00000228437.5	-	6	1595	c.1136T>C	c.(1135-1137)cTg>cCg	p.L379P	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	379					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)	p.L379P(1)		biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						GCGGTCACACAGAGTACACCC	0.453																																						uc001tmp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|skin(1)	2						c.(1135-1137)CTG>CCG		PR domain containing 4							86.0	83.0	84.0					12																	108140192		2203	4300	6503	SO:0001583	missense	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108140192A>G	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.1136T>C	12.37:g.108140192A>G	ENSP00000228437:p.Leu379Pro					PRDM4_uc001tmq.2_RNA	p.L379P	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN			6	1573	-			379					Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	c.1136T>C	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.693976	0.68386	.	.	ENSG00000110851	ENST00000228437;ENST00000550659	T;T	0.41758	0.99;0.99	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.58858	-0.7562	10	0.39692	T	0.17	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	379	Q9UKN5	PRDM4_HUMAN	P	379;124	ENSP00000228437:L379P;ENSP00000449295:L124P	ENSP00000228437:L379P	L	-	2	0	PRDM4	106664322	1.000000	0.71417	0.866000	0.34008	0.826000	0.46750	8.775000	0.91772	2.225000	0.72522	0.533000	0.62120	CTG		0.453	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1		NM_012406		3	104	0	0	0	0.014758	0	3	104		
NAA25	80018	broad.mit.edu	37	12	112499125	112499125	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:112499125G>A	ENST00000261745.4	-	12	1465	c.1217C>T	c.(1216-1218)gCt>gTt	p.A406V	RP1-267L14.3_ENST00000551125.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	406						cytoplasm (GO:0005737)		p.A406V(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						TCTGATGTCAGCAGGCAGTGC	0.458																																						uc001ttm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(1216-1218)GCT>GTT		mitochondrial distribution and morphology 20							103.0	97.0	99.0					12																	112499125		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112499125G>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.1217C>T	12.37:g.112499125G>A	ENSP00000261745:p.Ala406Val					NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.A378V|NAA25_uc009zwa.1_Missense_Mutation_p.A406V	p.A406V	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			12	1237	-			406					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.1217C>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804296	0.50315	.	.	ENSG00000111300	ENST00000261745	T	0.42900	0.96	5.84	5.84	0.93424	.	0.130619	0.53938	D	0.000057	T	0.35941	0.0949	L	0.43152	1.355	0.38918	D	0.957679	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.15037	-1.0451	10	0.39692	T	0.17	-7.9273	11.9865	0.53151	0.0:0.1302:0.7347:0.1351	.	406;406	A8K8X0;Q14CX7	.;NAA25_HUMAN	V	406	ENSP00000261745:A406V	ENSP00000261745:A406V	A	-	2	0	NAA25	110983508	0.782000	0.28689	1.000000	0.80357	0.999000	0.98932	2.267000	0.43329	2.768000	0.95171	0.650000	0.86243	GCT		0.458	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1		NM_024953		33	36	0	0	0	0.019004	0	33	36		
GPR133	283383	broad.mit.edu	37	12	131487771	131487771	+	Silent	SNP	C	C	T	rs375414030		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:131487771C>T	ENST00000261654.5	+	10	1627	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	GPR133_ENST00000376682.4_Silent_p.T42T|GPR133_ENST00000535015.1_Silent_p.T388T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	356					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T356T(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTATTGACACCGTCATGGGCC	0.602																																						uc001uit.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1066-1068)ACC>ACT		G protein-coupled receptor 133 precursor		C		1,4405	2.1+/-5.4	0,1,2202	182.0	147.0	159.0		1068	-8.5	0.0	12		159	0,8600		0,0,4300	no	coding-synonymous	GPR133	NM_198827.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		356/875	131487771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487771C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1068C>T	12.37:g.131487771C>T						GPR133_uc010tbm.1_Silent_p.T388T	p.T356T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1627	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		356			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1068C>T	CCDS9272.1																																																																																				0.602	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1		NM_198827		52	167	0	0	0	0.01441	0	52	167		
ANKLE2	23141	broad.mit.edu	37	12	133327289	133327289	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:133327289T>C	ENST00000357997.5	-	3	876	c.787A>G	c.(787-789)Acg>Gcg	p.T263A	ANKLE2_ENST00000337516.5_Missense_Mutation_p.T263A|ANKLE2_ENST00000539605.1_Missense_Mutation_p.T201A	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	263					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.T263A(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)		GGTAAGGACGTTTTGCTTGGA	0.423																																						uc001ukx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(787-789)ACG>GCG		ankyrin repeat and LEM domain containing 2							142.0	134.0	136.0					12																	133327289		1889	4128	6017	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133327289T>C	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.787A>G	12.37:g.133327289T>C	ENSP00000350686:p.Thr263Ala					ANKLE2_uc001uky.3_Missense_Mutation_p.T201A	p.T263A	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	854	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	263					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.787A>G	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	t	11.91	1.780393	0.31502	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T	0.30448	1.92;1.92;1.53	5.45	-7.74	0.01241	.	0.541582	0.21288	N	0.077031	T	0.14313	0.0346	L	0.43152	1.355	0.22424	N	0.999112	B;B	0.16166	0.012;0.016	B;B	0.13407	0.009;0.006	T	0.17018	-1.0383	10	0.21540	T	0.41	-0.6609	1.8441	0.03155	0.3668:0.3046:0.0884:0.2402	.	263;263	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	A	201;263;263;33	ENSP00000446268:T201A;ENSP00000350686:T263A;ENSP00000337651:T263A	ENSP00000337651:T263A	T	-	1	0	ANKLE2	131837362	0.030000	0.19436	0.000000	0.03702	0.072000	0.16883	-0.793000	0.04589	-1.892000	0.01108	-0.265000	0.10407	ACG		0.423	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1				46	40	0	0	0	0.01441	0	46	40		
NBEA	26960	broad.mit.edu	37	13	35923273	35923273	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:35923273A>G	ENST00000400445.3	+	37	6466	c.5932A>G	c.(5932-5934)Ata>Gta	p.I1978V	NBEA_ENST00000310336.4_Missense_Mutation_p.I1978V|NBEA_ENST00000540320.1_Missense_Mutation_p.I1978V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1975V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1978					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.I1978V(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGGACCATATAGTCCGTGT	0.348																																						uc001uvb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|large_intestine(2)	11						c.(5932-5934)ATA>GTA		neurobeachin							103.0	96.0	98.0					13																	35923273		1839	4094	5933	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35923273A>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5932A>G	13.37:g.35923273A>G	ENSP00000383295:p.Ile1978Val					NBEA_uc010abi.2_Missense_Mutation_p.I634V	p.I1978V	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	37	6138	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1978					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5932A>G	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590242	0.46214	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.54	5.54	0.83059	Domain of unknown function DUF1088 (1);	0.049354	0.85682	D	0.000000	T	0.35682	0.0940	L	0.40543	1.245	0.80722	D	1	B;B	0.31383	0.321;0.067	B;B	0.29785	0.107;0.078	T	0.11084	-1.0602	10	0.27082	T	0.32	.	15.6691	0.77258	1.0:0.0:0.0:0.0	.	1978;1975	Q8NFP9;Q5T321	NBEA_HUMAN;.	V	1978;1978;1975;1978;605	ENSP00000440951:I1978V;ENSP00000383295:I1978V;ENSP00000369271:I1975V;ENSP00000308534:I1978V	ENSP00000308534:I1978V	I	+	1	0	NBEA	34821273	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.943000	0.75934	2.108000	0.64289	0.533000	0.62120	ATA		0.348	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678		10	51	0	0	0	0.010729	0	10	51		
TRPC4	7223	broad.mit.edu	37	13	38320157	38320157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:38320157G>A	ENST00000379705.3	-	3	1671	c.814C>T	c.(814-816)Cga>Tga	p.R272*	TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R272*|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.R272*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R272*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	272	Multimerization domain. {ECO:0000250}.				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.R272*(2)|p.R272R(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)		TTGTCATCTCGGTAATTAAGA	0.418																																						uc001uws.2		NaN																	4	Substitution - Nonsense(2)|Substitution - coding silent(2)		urinary_tract(2)|kidney(2)	ovary(3)|skin(2)|breast(1)	6						c.(814-816)CGA>TGA		transient receptor potential cation channel,							189.0	179.0	183.0					13																	38320157		2203	4300	6503	SO:0001587	stop_gained	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.chr13:38320157G>A	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.814C>T	13.37:g.38320157G>A	ENSP00000369027:p.Arg272*					TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Nonsense_Mutation_p.R272*|TRPC4_uc010tey.1_Nonsense_Mutation_p.R272*|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Nonsense_Mutation_p.R272*|TRPC4_uc010aby.2_Nonsense_Mutation_p.R272*	p.R272*	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)	3	1049	-			272			Cytoplasmic (Potential).|Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	ENST00000379705.3	37	c.814C>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	39	7.538828	0.98345	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	6.07	3.07	0.35406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-15.0174	14.8083	0.69974	0.0:0.0:0.4733:0.5267	.	.	.	.	X	272	.	ENSP00000348025:R272X	R	-	1	2	TRPC4	37218157	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.168000	0.31859	0.859000	0.35456	0.655000	0.94253	CGA		0.418	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2		NM_003306		109	281	0	0	0	0.01441	0	109	281		
SCEL	8796	broad.mit.edu	37	13	78178541	78178541	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:78178541A>G	ENST00000349847.3	+	19	1232	c.1148A>G	c.(1147-1149)aAt>aGt	p.N383S	SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000469982.1_Intron|SCEL_ENST00000535157.1_Intron|SCEL-AS1_ENST00000457528.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.N363S	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	383	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.N383S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACAAATAAAAATATTACGAGG	0.333																																						uc001vki.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(1)	5						c.(1147-1149)AAT>AGT		sciellin isoform 1							100.0	117.0	111.0					13																	78178541		2201	4300	6501	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78178541A>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1148A>G	13.37:g.78178541A>G	ENSP00000302579:p.Asn383Ser					SCEL_uc001vkj.2_Missense_Mutation_p.N363S|SCEL_uc010thx.1_Intron	p.N383S	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	19	1318	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	383			16 X approximate tandem repeats.|7.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.1148A>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.783048	0.31593	.	.	ENSG00000136155	ENST00000377246;ENST00000349847	T;T	0.25250	1.81;1.81	5.87	3.38	0.38709	.	0.196792	0.36101	N	0.002786	T	0.16171	0.0389	L	0.34521	1.04	0.80722	D	1	B;B	0.27351	0.176;0.141	B;B	0.26770	0.046;0.073	T	0.07214	-1.0784	10	0.13470	T	0.59	-11.291	8.1928	0.31379	0.8403:0.0:0.1597:0.0	.	363;383	O95171-2;O95171	.;SCEL_HUMAN	S	363;383	ENSP00000366454:N363S;ENSP00000302579:N383S	ENSP00000302579:N383S	N	+	2	0	SCEL	77076542	0.996000	0.38824	0.989000	0.46669	0.837000	0.47467	0.233000	0.17911	0.532000	0.28657	-0.264000	0.10439	AAT		0.333	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2		NM_144777		83	182	0	0	0	0.01441	0	83	182		
LRP10	26020	broad.mit.edu	37	14	23344694	23344694	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr14:23344694C>T	ENST00000359591.4	+	5	1228	c.537C>T	c.(535-537)ttC>ttT	p.F179F	LRP10_ENST00000546834.1_Silent_p.F179F	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	179					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.F179F(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)		CAGACCCCTTCCCTGGCCTGA	0.582																																						uc001whd.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(535-537)TTC>TTT		low density lipoprotein receptor-related protein							132.0	109.0	117.0					14																	23344694		2203	4300	6503	SO:0001819	synonymous_variant	26020				endocytosis	coated pit|integral to membrane		g.chr14:23344694C>T	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.537C>T	14.37:g.23344694C>T						LRP10_uc001whe.2_Silent_p.F55F	p.F179F	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	5	1090	+	all_cancers(95;4.69e-05)		179			Extracellular (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Silent	SNP	ENST00000359591.4	37	c.537C>T	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497686	0.04291	.	.	ENSG00000197324	ENST00000551466	.	.	.	5.2	1.43	0.22495	.	.	.	.	.	T	0.32346	0.0826	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	-14.8464	7.448	0.27221	0.0:0.5692:0.0:0.4308	.	.	.	.	S	81	.	.	P	+	1	0	LRP10	22414534	0.885000	0.30320	0.193000	0.23327	0.707000	0.40811	0.283000	0.18846	0.098000	0.17522	-0.137000	0.14449	CCC		0.582	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3				71	191	0	0	0	0.01441	0	71	191		
MIPOL1	145282	broad.mit.edu	37	14	37838794	37838795	+	Missense_Mutation	DNP	CT	CT	GA			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr14:37838794_37838795CT>GA	ENST00000327441.7	+	11	1367_1368	c.901_902CT>GA	c.(901-903)CTg>GAg	p.L301E	MIPOL1_ENST00000545536.1_Missense_Mutation_p.L270E|MIPOL1_ENST00000556451.1_Missense_Mutation_p.L270E|MIPOL1_ENST00000537471.1_Missense_Mutation_p.L301E|MIPOL1_ENST00000396294.2_Missense_Mutation_p.L301E|MIPOL1_ENST00000536774.1_Missense_Mutation_p.L120E|MIPOL1_ENST00000539062.2_Missense_Mutation_p.L270E	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	301						nucleus (GO:0005634)		p.L301V(1)|p.L301>?(1)|p.L301Q(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CATGAGACATCTGACTGCTGAA	0.46																																						uc001wuc.2		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)	ovary(1)|central_nervous_system(1)	2						c.(901-903)CTG>GAG		mirror-image polydactyly 1																																				SO:0001583	missense	145282							g.chr14:37838794_37838795CT>GA	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	Exception_encountered	14.37:g.37838794_37838795delinsGA	ENSP00000333539:p.Leu301Glu					MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.L270E|MIPOL1_uc001wud.2_Missense_Mutation_p.L301E|MIPOL1_uc010ams.2_Missense_Mutation_p.L301E|MIPOL1_uc001wue.2_Missense_Mutation_p.L270E|MIPOL1_uc010amt.2_Missense_Mutation_p.L120E	p.L301E	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	11	1404_1405	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		301			Potential.		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	DNP	ENST00000327441.7	37	c.901_902CT>GA	CCDS9664.1																																																																																				0.460	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1		NM_138731		27	52	0	0	0	0.004672	0	27	52		
FSIP1	161835	broad.mit.edu	37	15	39910371	39910371	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr15:39910371T>C	ENST00000350221.3	-	11	1473	c.1264A>G	c.(1264-1266)Atc>Gtc	p.I422V		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	422								p.I422V(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGTTTAATGATGGATTTTTGT	0.368																																						uc001zki.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1264-1266)ATC>GTC		fibrous sheath interacting protein 1							62.0	63.0	63.0					15																	39910371		2200	4297	6497	SO:0001583	missense	161835							g.chr15:39910371T>C	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1264A>G	15.37:g.39910371T>C	ENSP00000280236:p.Ile422Val						p.I422V	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	11	1482	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	422					Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.1264A>G	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	T	4.895	0.166260	0.09339	.	.	ENSG00000150667	ENST00000350221	T	0.12672	2.66	4.37	0.689	0.18033	.	0.819172	0.10737	N	0.639900	T	0.07773	0.0195	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.41627	-0.9498	9	.	.	.	1.1529	4.7633	0.13118	0.0:0.2476:0.1532:0.5992	.	422	Q8NA03	FSIP1_HUMAN	V	422	ENSP00000280236:I422V	.	I	-	1	0	FSIP1	37697663	0.842000	0.29525	0.073000	0.20177	0.771000	0.43674	0.843000	0.27640	0.098000	0.17522	-0.371000	0.07208	ATC		0.368	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2		NM_152597		53	65	0	0	0	0.01441	0	53	65		
IGF1R	3480	broad.mit.edu	37	15	99250976	99250976	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr15:99250976G>A	ENST00000268035.6	+	2	891	c.280G>A	c.(280-282)Gag>Aag	p.E94K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E94K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	94					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.E94K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGCTGGCCTCGAGAGCCTCGG	0.577																																						uc002bul.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(280-282)GAG>AAG		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						88.0	66.0	73.0					15																	99250976		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99250976G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.280G>A	15.37:g.99250976G>A	ENSP00000268035:p.Glu94Lys					IGF1R_uc010urq.1_Missense_Mutation_p.E94K|IGF1R_uc010bon.2_Missense_Mutation_p.E94K	p.E94K	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	330	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		94					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.280G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861951	0.91433	.	.	ENSG00000140443	ENST00000268035	T	0.79554	-1.28	5.36	5.36	0.76844	EGF receptor, L domain (1);	0.114699	0.37012	N	0.002281	T	0.81819	0.4903	M	0.64080	1.96	0.58432	D	0.999991	P;B	0.50443	0.935;0.251	P;B	0.45610	0.487;0.064	T	0.81897	-0.0722	10	0.39692	T	0.17	.	18.4346	0.90640	0.0:0.0:1.0:0.0	.	94;94	C9J5X1;P08069	.;IGF1R_HUMAN	K	94	ENSP00000268035:E94K	ENSP00000268035:E94K	E	+	1	0	IGF1R	97068499	1.000000	0.71417	0.962000	0.40283	0.889000	0.51656	9.667000	0.98616	2.659000	0.90383	0.563000	0.77884	GAG		0.577	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875		7	62	0	0	0	0.001984	0	7	62		
NME4	4833	broad.mit.edu	37	16	449378	449378	+	Splice_Site	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:449378G>A	ENST00000219479.2	+	3	239		c.e3-1		DECR2_ENST00000397710.1_5'Flank|DECR2_ENST00000424398.2_5'Flank|DECR2_ENST00000219481.5_5'Flank|NME4_ENST00000450036.1_Splice_Site|NME4_ENST00000382940.4_Splice_Site|NME4_ENST00000397722.1_Splice_Site	NM_005009.2	NP_005000.1	O00746	NDKM_HUMAN	NME/NM23 nucleoside diphosphate kinase 4						CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.?(1)		NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				ATGCCACCCAGGCACCAGAGA	0.607																																						uc002cgz.2		NaN																	1	Unknown(1)		urinary_tract(1)		0						c.e3-1		nucleoside diphosphate kinase 4 precursor							135.0	139.0	138.0					16																	449378		2202	4299	6501	SO:0001630	splice_region_variant	4833				CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr16:449378G>A	Y07604	CCDS10408.1, CCDS66886.1, CCDS73797.1	16p13.3	2013-04-29	2012-05-18		ENSG00000103202	ENSG00000103202			7852	protein-coding gene	gene with protein product		601818	"""non-metastatic cells 4, protein expressed in"""			9099850, 19852809	Standard	NM_005009		Approved	nm23-H4, NM23H4, NDPKD	uc002cgz.3	O00746	OTTHUMG00000047995	ENST00000219479.2:c.226-1G>A	16.37:g.449378G>A						NME4_uc002cgy.2_Splice_Site_p.A6_splice|NME4_uc002cha.2_Splice_Site|DECR2_uc002chb.2_5'Flank|DECR2_uc002chc.2_5'Flank|DECR2_uc010bqv.2_5'Flank|DECR2_uc002chd.2_5'Flank	p.A76_splice	NM_005009	NP_005000	O00746	NDKM_HUMAN			3	257	+		Hepatocellular(16;0.00015)						A2IDD0|Q5U0M9	Splice_Site	SNP	ENST00000219479.2	37	c.226_splice	CCDS10408.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646411	0.47258	.	.	ENSG00000103202	ENST00000397722;ENST00000454619;ENST00000219479;ENST00000382940;ENST00000433358;ENST00000450036	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1274	0.72494	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NME4	389379	1.000000	0.71417	0.982000	0.44146	0.166000	0.22503	6.773000	0.75006	2.133000	0.65898	0.462000	0.41574	.		0.607	NME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109256.2		NM_005009	Intron	130	282	0	0	0	0.01441	0	130	282		
C16orf54	283897	broad.mit.edu	37	16	29756070	29756070	+	Missense_Mutation	SNP	C	C	T	rs539006493	byFrequency	TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:29756070C>T	ENST00000329410.3	-	2	298	c.203G>A	c.(202-204)cGt>cAt	p.R68H	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	68						integral component of membrane (GO:0016021)		p.R68H(1)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GGTGGGTGCACGGTGGCTGGG	0.677													c|||	4	0.000798722	0.0	0.0	5008	,	,		16210	0.0		0.0	False		,,,				2504	0.0041					uc002dtp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(202-204)CGT>CAT		hypothetical protein LOC283897							18.0	17.0	18.0					16																	29756070		2164	4266	6430	SO:0001583	missense	283897					integral to membrane		g.chr16:29756070C>T	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.203G>A	16.37:g.29756070C>T	ENSP00000327506:p.Arg68His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank	p.R68H	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN			2	312	-			68					A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	37	c.203G>A	CCDS10652.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872198	0.17322	.	.	ENSG00000185905	ENST00000329410	T	0.43688	0.94	5.09	-4.98	0.03019	.	2.070380	0.02758	N	0.118243	T	0.23965	0.0580	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12889	-1.0530	10	0.31617	T	0.26	1.0115	6.8305	0.23907	0.1108:0.4614:0.0:0.4278	.	68	Q6UWD8	CP054_HUMAN	H	68	ENSP00000327506:R68H	ENSP00000327506:R68H	R	-	2	0	C16orf54	29663571	0.000000	0.05858	0.000000	0.03702	0.679000	0.39708	-3.252000	0.00539	-1.463000	0.01904	-0.752000	0.03492	CGT		0.677	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1		NM_175900		4	3	0	0	0	0.009096	0	4	3		
ACD	65057	broad.mit.edu	37	16	67692470	67692470	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:67692470G>T	ENST00000393919.4	-	9	1339	c.1075C>A	c.(1075-1077)Ccc>Acc	p.P359T	PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.P356T|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	359	Ser-rich.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.P356T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGGAACTGGGTGAGGAAGGA	0.617																																						uc002etq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1075-1077)CCC>ACC		adrenocortical dysplasia homolog isoform 1							69.0	66.0	67.0					16																	67692470		2198	4300	6498	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67692470G>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1075C>A	16.37:g.67692470G>T	ENSP00000377496:p.Pro359Thr					ACD_uc002etp.3_Missense_Mutation_p.P356T|ACD_uc002etr.3_Missense_Mutation_p.P356T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.P359T	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	9	1412	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	359			Ser-rich.		Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.1075C>A	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005378	0.35415	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.34275	1.37;1.38	3.26	-0.0214	0.13951	.	0.922598	0.09161	N	0.840144	T	0.21427	0.0516	L	0.27053	0.805	0.09310	N	1	B;B	0.32160	0.244;0.358	B;B	0.25140	0.026;0.058	T	0.17137	-1.0379	10	0.52906	T	0.07	-4.2554	6.002	0.19525	0.4214:0.0:0.5786:0.0	.	359;356	Q96AP0;Q96AP0-2	ACD_HUMAN;.	T	356;359	ENSP00000219251:P356T;ENSP00000377496:P359T	ENSP00000219251:P356T	P	-	1	0	ACD	66249971	0.000000	0.05858	0.010000	0.14722	0.703000	0.40648	-0.314000	0.08092	0.061000	0.16311	0.462000	0.41574	CCC		0.617	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		NM_022914		23	107	1	0	3.28513e-13	0.021523	3.51624e-13	23	107		
CENPT	80152	broad.mit.edu	37	16	67863976	67863976	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:67863976G>A	ENST00000562787.1	-	12	1426	c.878C>T	c.(877-879)gCc>gTc	p.A293V	CENPT_ENST00000440851.2_Missense_Mutation_p.A293V|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Missense_Mutation_p.A293V|CENPT_ENST00000219172.3_Missense_Mutation_p.A293V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	293	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A293V(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CAGAAACTGGGCTGGTTTCCC	0.567																																						uc002eun.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(877-879)GCC>GTC		centromere protein T							48.0	49.0	49.0					16																	67863976		2017	4193	6210	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67863976G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.878C>T	16.37:g.67863976G>A	ENSP00000457810:p.Ala293Val					CENPT_uc002eum.3_Missense_Mutation_p.A293V|CENPT_uc010vkc.1_Missense_Mutation_p.A51V|CENPT_uc010vkd.1_Missense_Mutation_p.A46V|CENPT_uc010vke.1_3'UTR	p.A293V	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	12	1427	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	293					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.878C>T	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238684	0.58995	.	.	ENSG00000102901	ENST00000440851;ENST00000436104;ENST00000219172	T;T	0.45276	0.9;0.9	4.09	1.86	0.25419	.	0.410510	0.18035	N	0.153802	T	0.36552	0.0971	L	0.55481	1.735	0.18873	N	0.999988	P;P;P	0.36909	0.573;0.573;0.573	B;B;B	0.40901	0.343;0.217;0.217	T	0.13575	-1.0504	10	0.31617	T	0.26	-3.22	6.3717	0.21485	0.0:0.2051:0.5836:0.2112	.	51;293;293	F5H5A6;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	V	293;51;293	ENSP00000400140:A293V;ENSP00000219172:A293V	ENSP00000219172:A293V	A	-	2	0	CENPT	66421477	0.622000	0.27085	0.654000	0.29608	0.398000	0.30690	0.985000	0.29578	0.821000	0.34540	-0.302000	0.09304	GCC		0.567	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1		NM_025082		32	36	0	0	0	0.009535	0	32	36		
VAC14	55697	broad.mit.edu	37	16	70834774	70834774	+	Silent	SNP	G	G	T	rs377452486		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:70834774G>T	ENST00000261776.5	-	1	290	c.30C>A	c.(28-30)ctC>ctA	p.L10L	RP11-424M24.5_ENST00000574178.1_lincRNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	10					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.L10L(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGTTAGGCGTGAGCGGCGCGA	0.667																																						uc002ezm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)|skin(1)	2						c.(28-30)CTC>CTA		Vac14 homolog							59.0	52.0	54.0					16																	70834774		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70834774G>T	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.30C>A	16.37:g.70834774G>T						VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_5'UTR	p.L10L	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			1	288	-		Ovarian(137;0.0699)	10			HEAT 1.		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.30C>A	CCDS10896.1																																																																																				0.667	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3		NM_018052		13	109	1	0	0.00244969	0.020292	0.0025207	13	109		
CMTR2	55783	broad.mit.edu	37	16	71319027	71319027	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:71319027A>C	ENST00000338099.5	-	3	1133	c.797T>G	c.(796-798)cTt>cGt	p.L266R	CMTR2_ENST00000434935.2_Missense_Mutation_p.L266R			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	266	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.L266R(1)									ACCGTTTCCAAGAGTGGTCAG	0.398																																						uc010cga.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(796-798)CTT>CGT		FtsJ methyltransferase domain containing 1							88.0	92.0	90.0					16																	71319027		2198	4300	6498	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319027A>C	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.797T>G	16.37:g.71319027A>C	ENSP00000337512:p.Leu266Arg					FTSJD1_uc002ezy.3_Missense_Mutation_p.L266R|FTSJD1_uc002ezz.3_Missense_Mutation_p.L266R	p.L266R	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	1203	-			266					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.797T>G	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.291068	0.59976	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.63580	-0.05;-0.05	5.95	5.95	0.96441	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.64402	D	0.000001	D	0.84862	0.5566	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89026	0.3438	10	0.87932	D	0	-3.5958	15.5864	0.76485	1.0:0.0:0.0:0.0	.	266	Q8IYT2	FTSJ1_HUMAN	R	266	ENSP00000337512:L266R;ENSP00000411148:L266R	ENSP00000337512:L266R	L	-	2	0	FTSJD1	69876528	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	8.962000	0.93254	2.279000	0.76181	0.402000	0.26972	CTT		0.398	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2		NM_018348		29	60	0	0	0	0.008361	0	29	60		
ZZEF1	23140	broad.mit.edu	37	17	3920781	3920781	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:3920781C>T	ENST00000381638.2	-	48	8009	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2629							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.E2629K(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTAGGCCACTCGGCGAGCAGG	0.577																																						uc002fxe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(7885-7887)GAG>AAG		zinc finger, ZZ type with EF hand domain 1							58.0	50.0	53.0					17																	3920781		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3920781C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7885G>A	17.37:g.3920781C>T	ENSP00000371051:p.Glu2629Lys					ZZEF1_uc002fxg.1_5'UTR	p.E2629K	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			48	7949	-			2629					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.7885G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193589	0.38707	.	.	ENSG00000074755	ENST00000381638	T	0.22336	1.96	5.53	4.49	0.54785	.	0.162693	0.53938	D	0.000048	T	0.13243	0.0321	N	0.24115	0.695	0.50632	D	0.999887	P	0.52061	0.95	B	0.31751	0.135	T	0.11108	-1.0601	10	0.66056	D	0.02	-18.521	17.8304	0.88680	0.0:0.8066:0.1934:0.0	.	2629	O43149	ZZEF1_HUMAN	K	2629	ENSP00000371051:E2629K	ENSP00000371051:E2629K	E	-	1	0	ZZEF1	3867530	0.998000	0.40836	0.960000	0.40013	0.784000	0.44337	3.729000	0.54999	2.598000	0.87819	0.650000	0.86243	GAG		0.577	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		21	44	0	0	0	0.012213	0	21	44		
PER1	5187	broad.mit.edu	37	17	8046123	8046123	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:8046123C>T	ENST00000317276.4	-	20	3340	c.3103G>A	c.(3103-3105)Gca>Aca	p.A1035T	PER1_ENST00000581082.1_Missense_Mutation_p.A1012T|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1035	Ser-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.A1035T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGGAAAGTGCGTCCTGATTG	0.647			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2		NaN		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(3103-3105)GCA>ACA	Other_conserved_DNA_damage_response_genes	period 1							38.0	39.0	39.0					17																	8046123		2201	4299	6500	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8046123C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3103G>A	17.37:g.8046123C>T	ENSP00000314420:p.Ala1035Thr					PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA	p.A1035T	NM_002616	NP_002607	O15534	PER1_HUMAN			20	3341	-			1035			Ser-rich.		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3103G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729248	0.69074	.	.	ENSG00000179094	ENST00000317276	T	0.15603	2.41	5.31	3.3	0.37823	Period circadian-like, C-terminal (1);	0.106377	0.64402	D	0.000006	T	0.28995	0.0720	M	0.71036	2.16	0.80722	D	1	D	0.61697	0.99	P	0.55055	0.767	T	0.01914	-1.1248	10	0.48119	T	0.1	-4.6648	7.6818	0.28518	0.1615:0.7497:0.0:0.0887	.	1035	O15534	PER1_HUMAN	T	1035	ENSP00000314420:A1035T	ENSP00000314420:A1035T	A	-	1	0	PER1	7986848	0.953000	0.32496	0.073000	0.20177	0.393000	0.30537	2.895000	0.48648	0.796000	0.33947	-0.189000	0.12847	GCA		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2				8	26	0	0	0	0.004482	0	8	26		
TOP3A	7156	broad.mit.edu	37	17	18196135	18196135	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:18196135T>C	ENST00000321105.5	-	11	1319	c.1105A>G	c.(1105-1107)Att>Gtt	p.I369V	TOP3A_ENST00000540524.1_Intron|TOP3A_ENST00000542570.1_Missense_Mutation_p.I274V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	369					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.I369V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGGAAAAATGTTTGTTTCT	0.483																																						uc002gsx.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)	3						c.(1105-1107)ATT>GTT		topoisomerase (DNA) III alpha							119.0	111.0	114.0					17																	18196135		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18196135T>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1105A>G	17.37:g.18196135T>C	ENSP00000321636:p.Ile369Val					TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.I267V	p.I369V	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			11	1334	-			369					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.1105A>G	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.16|13.16	2.155198|2.155198	0.38021|0.38021	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000412083|ENST00000321105;ENST00000542570	.|T;T	.|0.21031	.|2.03;2.03	5.31|5.31	5.31|5.31	0.75309|0.75309	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	.|0.088936	.|0.85682	.|D	.|0.000000	T|T	0.23370|0.23370	0.0565|0.0565	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	.|B;P	.|0.39480	.|0.238;0.675	.|B;P	.|0.45712	.|0.219;0.491	T|T	0.02852|0.02852	-1.1102|-1.1102	5|10	.|0.16896	.|T	.|0.51	-8.2595|-8.2595	15.2351|15.2351	0.73422|0.73422	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|274;369	.|B4DK80;Q13472	.|.;TOP3A_HUMAN	R|V	348|369;274	.|ENSP00000321636:I369V;ENSP00000442336:I274V	.|ENSP00000321636:I369V	H|I	-|-	2|1	0|0	TOP3A|TOP3A	18136860|18136860	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.963000|0.963000	0.63663|0.63663	6.180000|6.180000	0.71981|0.71981	1.994000|1.994000	0.58287|0.58287	0.460000|0.460000	0.39030|0.39030	CAT|ATT		0.483	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2				48	86	0	0	0	0.01441	0	48	86		
EFCAB5	374786	broad.mit.edu	37	17	28405458	28405458	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:28405458C>G	ENST00000394835.3	+	15	3155	c.2963C>G	c.(2962-2964)gCt>gGt	p.A988G	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.A864G	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	988							calcium ion binding (GO:0005509)	p.A988G(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATCCAATGTGCTGCAGAGACA	0.473																																						uc002het.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2962-2964)GCT>GGT		EF-hand calcium binding domain 5 isoform a							59.0	60.0	60.0					17																	28405458		1948	4152	6100	SO:0001583	missense	374786						calcium ion binding	g.chr17:28405458C>G	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2963C>G	17.37:g.28405458C>G	ENSP00000378312:p.Ala988Gly					EFCAB5_uc010cse.2_Missense_Mutation_p.A743G|EFCAB5_uc010csf.2_Intron	p.A988G	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			15	3155	+			988					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2963C>G	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568002	0.45798	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.15372	2.43;2.47;2.47	4.89	4.89	0.63831	GAF (1);	0.000000	0.46758	D	0.000267	T	0.41627	0.1167	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.97;1.0	P;D	0.85130	0.747;0.997	T	0.31833	-0.9929	10	0.62326	D	0.03	-10.8297	15.2205	0.73308	0.0:1.0:0.0:0.0	.	864;988	E7EVS9;A4FU69	.;EFCB5_HUMAN	G	988;864;670	ENSP00000378312:A988G;ENSP00000322003:A864G;ENSP00000417009:A670G	ENSP00000322003:A864G	A	+	2	0	EFCAB5	25429584	1.000000	0.71417	0.982000	0.44146	0.022000	0.10575	3.734000	0.55037	2.274000	0.75844	0.655000	0.94253	GCT		0.473	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529		22	54	0	0	0	0.010504	0	22	54		
EVI2B	2124	broad.mit.edu	37	17	29631980	29631980	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:29631980C>G	ENST00000330927.4	-	2	802	c.648G>C	c.(646-648)ttG>ttC	p.L216F	EVI2B_ENST00000544462.1_Missense_Mutation_p.L231F|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L216F	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	216						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.L216F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTATAGCTACCAACATAGAAG	0.343																																						uc002hgk.2		NaN																	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)		soft_tissue(7)|autonomic_ganglia(2)|urinary_tract(1)|lung(1)|central_nervous_system(1)	ovary(2)	2						c.(646-648)TTG>TTC		ecotropic viral integration site 2B precursor							176.0	175.0	176.0					17																	29631980		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631980C>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.648G>C	17.37:g.29631980C>G	ENSP00000333779:p.Leu216Phe					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.L231F	p.L216F	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	803	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	216			Helical; (Potential).		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.648G>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	C	8.901	0.956327	0.18507	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.55413	0.53;0.52	5.46	1.9	0.25705	.	0.379369	0.18828	N	0.130051	T	0.39009	0.1062	L	0.40543	1.245	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.25884	0.064;0.064	T	0.23691	-1.0181	10	0.48119	T	0.1	-1.7607	4.9393	0.13958	0.2596:0.485:0.0:0.2554	.	231;216	B7Z4A7;P34910	.;EVI2B_HUMAN	F	216;231	ENSP00000333779:L216F;ENSP00000439738:L231F	ENSP00000333779:L216F	L	-	3	2	EVI2B	26656106	0.000000	0.05858	0.999000	0.59377	0.453000	0.32348	-0.556000	0.05992	0.669000	0.31146	0.491000	0.48974	TTG		0.343	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2		NM_006495		53	161	0	0	0	0.01441	0	53	161		
PLEKHM1	9842	broad.mit.edu	37	17	43545795	43545795	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:43545795G>C	ENST00000430334.3	-	5	1221	c.1088C>G	c.(1087-1089)gCa>gGa	p.A363G	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A274G|RN7SL730P_ENST00000583727.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	363					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.A363G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TCCAGAGGCTGCCTGGGCAGG	0.642																																						uc002ija.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1087-1089)GCA>GGA		pleckstrin homology domain containing, family M							60.0	57.0	58.0					17																	43545795		2203	4298	6501	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43545795G>C	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1088C>G	17.37:g.43545795G>C	ENSP00000389913:p.Ala363Gly					PLEKHM1_uc010wjm.1_Missense_Mutation_p.A335G|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.A312G	p.A363G	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			5	1258	-	Renal(3;0.0405)		363					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.1088C>G	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249654	0.39797	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.65364	-0.15;-0.15	4.69	-0.0168	0.13970	.	0.603674	0.16232	N	0.223573	T	0.46833	0.1413	L	0.54323	1.7	0.09310	N	1	P;B	0.38504	0.634;0.361	B;B	0.30495	0.116;0.081	T	0.36163	-0.9759	10	0.48119	T	0.1	.	5.7972	0.18394	0.0932:0.0:0.4131:0.4936	.	274;363	F8W648;Q9Y4G2	.;PKHM1_HUMAN	G	363;312;274	ENSP00000389913:A363G;ENSP00000414352:A274G	ENSP00000414352:A274G	A	-	2	0	PLEKHM1	40901578	0.000000	0.05858	0.000000	0.03702	0.420000	0.31355	0.419000	0.21247	0.269000	0.21961	-0.182000	0.12963	GCA		0.642	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1		NM_014798		8	43	0	0	0	0.006214	0	8	43		
KPNB1	3837	broad.mit.edu	37	17	45750422	45750422	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:45750422A>G	ENST00000290158.4	+	13	1993	c.1586A>G	c.(1585-1587)tAt>tGt	p.Y529C	KPNB1_ENST00000535458.2_Missense_Mutation_p.Y384C|KPNB1_ENST00000540627.1_Missense_Mutation_p.Y384C|KPNB1_ENST00000537679.1_Missense_Mutation_p.Y313C	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	529					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.Y529C(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGTTCTGCATATGAATCTCTG	0.423																																						uc002ilt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1585-1587)TAT>TGT		karyopherin beta 1							118.0	114.0	115.0					17																	45750422		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45750422A>G	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1586A>G	17.37:g.45750422A>G	ENSP00000290158:p.Tyr529Cys					KPNB1_uc010wkw.1_Missense_Mutation_p.Y384C|KPNB1_uc010wkx.1_Missense_Mutation_p.Y313C	p.Y529C	NM_002265	NP_002256	Q14974	IMB1_HUMAN			13	1922	+			529					B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.1586A>G	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596522	0.46318	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86301	0.5900	M	0.93550	3.43	0.44359	D	0.997256	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90009	0.4120	9	0.87932	D	0	-1.6201	15.6455	0.77046	1.0:0.0:0.0:0.0	.	313;529	F5H4R7;Q14974	.;IMB1_HUMAN	C	384;529;384;313	ENSP00000438253:Y384C;ENSP00000290158:Y529C;ENSP00000438964:Y384C;ENSP00000445006:Y313C	ENSP00000290158:Y529C	Y	+	2	0	KPNB1	43105421	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.104000	0.64026	0.533000	0.62120	TAT		0.423	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2		NM_002265		39	67	0	0	0	0.00623	0	39	67		
HOXB4	3214	broad.mit.edu	37	17	46654171	46654171	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:46654171C>A	ENST00000332503.5	-	2	2460	c.669G>T	c.(667-669)ttG>ttT	p.L223F	HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000490677.1_5'Flank|HOXB3_ENST00000311626.4_5'Flank|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB-AS3_ENST00000465846.2_RNA	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	223					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L223F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						TGGTGTTGGGCAACTTGTGGT	0.677																																						uc002inp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(667-669)TTG>TTT		homeobox B4							65.0	68.0	67.0					17																	46654171		2203	4300	6503	SO:0001583	missense	3214					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46654171C>A		CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.669G>T	17.37:g.46654171C>A	ENSP00000328928:p.Leu223Phe					HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron	p.L223F	NM_024015	NP_076920	P17483	HXB4_HUMAN			2	731	-			223					Q9NTA0	Missense_Mutation	SNP	ENST00000332503.5	37	c.669G>T	CCDS11529.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452308	0.63290	.	.	ENSG00000182742	ENST00000332503	D	0.91843	-2.92	5.78	3.61	0.41365	Homeobox (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.91385	0.7282	L	0.36672	1.1	0.49915	D	0.999833	D	0.61080	0.989	P	0.61477	0.889	D	0.90651	0.4582	10	0.87932	D	0	.	6.8779	0.24156	0.0:0.6533:0.1486:0.198	.	223	P17483	HXB4_HUMAN	F	223	ENSP00000328928:L223F	ENSP00000328928:L223F	L	-	3	2	HOXB4	44009170	0.771000	0.28555	1.000000	0.80357	0.994000	0.84299	-0.057000	0.11768	1.433000	0.47394	0.555000	0.69702	TTG		0.677	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358259.2				66	121	1	0	9.65139e-37	0.01441	1.05423e-36	66	121		
HEATR6	63897	broad.mit.edu	37	17	58145064	58145064	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:58145064T>C	ENST00000184956.6	-	8	985	c.969A>G	c.(967-969)ccA>ccG	p.P323P	HEATR6_ENST00000585976.1_Silent_p.P323P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	323	Poly-Lys.						poly(A) RNA binding (GO:0044822)	p.P323P(1)		NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GGATTTTCTTTGGTTTTACTT	0.413																																						uc002iyk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(967-969)CCA>CCG		HEAT repeat containing 6							107.0	109.0	108.0					17																	58145064		2203	4299	6502	SO:0001819	synonymous_variant	63897						binding	g.chr17:58145064T>C	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.969A>G	17.37:g.58145064T>C						HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Silent_p.P155P	p.P323P	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		8	986	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		323			Poly-Lys.		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	ENST00000184956.6	37	c.969A>G	CCDS11623.1																																																																																				0.413	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1		NM_022070		43	99	0	0	0	0.01441	0	43	99		
CDC42EP4	23580	broad.mit.edu	37	17	71281971	71281971	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr17:71281971G>A	ENST00000335793.3	-	2	1063	c.669C>T	c.(667-669)agC>agT	p.S223S	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Silent_p.S153S			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	223					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)	p.S223S(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGTCCATGATGCTGAGGACGT	0.657																																						uc002jjn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(667-669)AGC>AGT		Cdc42 effector protein 4							71.0	64.0	66.0					17																	71281971		2203	4300	6503	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281971G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.669C>T	17.37:g.71281971G>A						CDC42EP4_uc002jjo.2_Silent_p.S223S|CDC42EP4_uc002jjp.1_Silent_p.S153S	p.S223S	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	816	-			223					B3KUS7|O95828|Q96FT3	Silent	SNP	ENST00000335793.3	37	c.669C>T	CCDS11695.1																																																																																				0.657	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1		NM_012121		70	103	0	0	0	0.01441	0	70	103		
LAMA3	3909	broad.mit.edu	37	18	21437915	21437915	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:21437915G>A	ENST00000313654.9	+	33	4485	c.4244G>A	c.(4243-4245)gGa>gAa	p.G1415E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G1415E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1415	Domain III B.|Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G1415E(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACTGAGCCAGGAGTGTGTGAC	0.562																																						uc002kuq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(4243-4245)GGA>GAA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						118.0	119.0	119.0					18																	21437915		2046	4192	6238	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21437915G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4244G>A	18.37:g.21437915G>A	ENSP00000324532:p.Gly1415Glu					LAMA3_uc002kur.2_Missense_Mutation_p.G1415E	p.G1415E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			33	4330	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1415			Laminin EGF-like 12.|Domain III B.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4244G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104340	0.20632	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.60797	0.16;0.16	5.43	-2.6	0.06190	EGF-like, laminin (3);	.	.	.	.	T	0.40473	0.1118	L	0.41710	1.295	0.09310	N	0.999999	B;B	0.09022	0.002;0.002	B;B	0.12156	0.003;0.007	T	0.30592	-0.9973	9	0.14252	T	0.57	.	7.2578	0.26187	0.3556:0.4585:0.1859:0.0	.	1415;1415	Q6VU67;Q16787	.;LAMA3_HUMAN	E	1415;1415;1413	ENSP00000324532:G1415E;ENSP00000382432:G1415E	ENSP00000324532:G1415E	G	+	2	0	LAMA3	19691913	0.000000	0.05858	0.010000	0.14722	0.996000	0.88848	0.358000	0.20216	-0.390000	0.07774	0.561000	0.74099	GGA		0.562	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		57	71	0	0	0	0.01441	0	57	71		
ZNF317	57693	broad.mit.edu	37	19	9271246	9271247	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:9271246_9271247GA>TT	ENST00000247956.6	+	7	1230_1231	c.925_926GA>TT	c.(925-927)GAt>TTt	p.D309F	ZNF317_ENST00000360385.3_Missense_Mutation_p.D277F	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	309					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.D309V(1)|p.D309>?(1)|p.D309Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						TTACAAGTGTGATCAGTGCGGG	0.574																																						uc002mku.2		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)		0						c.(925-927)GAT>TTT		zinc finger protein 317																																				SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271246_9271247GA>TT	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		Exception_encountered	19.37:g.9271246_9271247delinsTT	ENSP00000247956:p.Asp309Phe					ZNF317_uc002mkv.2_Missense_Mutation_p.D168F|ZNF317_uc002mkw.2_Missense_Mutation_p.D277F|ZNF317_uc002mkx.2_Missense_Mutation_p.D224F|ZNF317_uc002mky.2_Missense_Mutation_p.D192F	p.D309F	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			7	1200_1201	+			309			C2H2-type 4.		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	DNP	ENST00000247956.6	37	c.925_926GA>TT	CCDS12210.1																																																																																				0.574	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1		NM_020933		38	77	0	0	0	0.004672	0	38	77		
TYK2	7297	broad.mit.edu	37	19	10475635	10475635	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:10475635G>A	ENST00000525621.1	-	8	1582	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	TYK2_ENST00000264818.6_Silent_p.D367D|TYK2_ENST00000529370.1_Silent_p.D367D|TYK2_ENST00000524462.1_Silent_p.D182D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	367	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.D367D(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)			CCCGCGGCCTGTCTGCCGGCT	0.617																																						uc002moc.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(1099-1101)GAC>GAT		tyrosine kinase 2							46.0	47.0	47.0					19																	10475635		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:10475635G>A		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.1101C>T	19.37:g.10475635G>A						TYK2_uc010dxe.2_Silent_p.D182D|TYK2_uc002mod.2_Silent_p.D367D	p.D367D	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)		8	1479	-			367			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.1101C>T	CCDS12236.1																																																																																				0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				21	50	0	0	0	0.014323	0	21	50		
COMP	1311	broad.mit.edu	37	19	18896789	18896789	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:18896789T>A	ENST00000222271.2	-	13	1519	c.1475A>T	c.(1474-1476)cAg>cTg	p.Q492L	COMP_ENST00000542601.2_Missense_Mutation_p.Q459L|COMP_ENST00000425807.1_Missense_Mutation_p.Q439L	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	492					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.Q492L(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						CGCGTCCTCCTGGCCGGGGTT	0.711																																						uc002nke.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0	GRCh37	CM051434	COMP	M		c.(1474-1476)CAG>CTG		cartilage oligomeric matrix protein precursor							26.0	22.0	23.0					19																	18896789		2203	4299	6502	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.chr19:18896789T>A	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.1475A>T	19.37:g.18896789T>A	ENSP00000222271:p.Gln492Leu					COMP_uc002nkd.2_Missense_Mutation_p.Q459L|COMP_uc010xqj.1_Missense_Mutation_p.Q439L	p.Q492L	NM_000095	NP_000086	P49747	COMP_HUMAN			13	1511	-			492			TSP type-3 7.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1475A>T	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952319	0.73787	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98996	-5.31;-5.31;-5.31	4.05	4.05	0.47172	.	0.000000	0.64402	U	0.000001	D	0.99471	0.9812	H	0.96604	3.85	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77557	0.99;0.967	D	0.98395	1.0565	10	0.87932	D	0	-20.8632	11.8073	0.52163	0.0:0.0:0.0:1.0	.	439;492	B4DKJ3;P49747	.;COMP_HUMAN	L	459;492;439;479	ENSP00000439156:Q459L;ENSP00000222271:Q492L;ENSP00000403792:Q439L	ENSP00000222271:Q492L	Q	-	2	0	COMP	18757789	1.000000	0.71417	0.991000	0.47740	0.326000	0.28443	7.899000	0.87370	1.475000	0.48197	0.402000	0.26972	CAG		0.711	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1		NM_000095		17	14	0	0	0	0.008871	0	17	14		
ZNF253	56242	broad.mit.edu	37	19	20003518	20003518	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:20003518C>G	ENST00000589717.1	+	4	1554	c.1462C>G	c.(1462-1464)Ctt>Gtt	p.L488V	AC011477.1_ENST00000578823.1_RNA|CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.L412V	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	488					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L488V(1)|p.L460V(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGACAGATCTTTTAAATGT	0.358																																						uc002noj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1462-1464)CTT>GTT		zinc finger protein 253							69.0	79.0	75.0					19																	20003518		2073	4230	6303	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20003518C>G	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1462C>G	19.37:g.20003518C>G	ENSP00000468720:p.Leu488Val					ZNF253_uc002nok.2_Missense_Mutation_p.L412V|ZNF253_uc002nol.2_RNA	p.L488V	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	1554	+			488					A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.1462C>G	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.104079	0.00356	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.859	0.859	0.19036	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.28776	-1.0033	7	.	.	.	.	4.8155	0.13365	0.0:1.0:0.0:0.0	.	488	O75346	ZN253_HUMAN	V	488	.	.	L	+	1	0	ZNF253	19864518	0.655000	0.27376	0.281000	0.24762	0.278000	0.26855	-0.147000	0.10234	0.202000	0.20498	0.205000	0.17691	CTT		0.358	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1		NM_021047		3	121	0	0	0	0.004672	0	3	121		
ZBTB32	27033	broad.mit.edu	37	19	36205902	36205902	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:36205902A>C	ENST00000392197.2	+	3	692	c.374A>C	c.(373-375)aAg>aCg	p.K125T	ZBTB32_ENST00000262630.3_Missense_Mutation_p.K125T			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	125					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K125T(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGGCCTGAAGAAACATCAG	0.577																																						uc002oay.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(373-375)AAG>ACG		zinc finger and BTB domain containing 32							44.0	48.0	47.0					19																	36205902		2203	4300	6503	SO:0001583	missense	27033				DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:36205902A>C	AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.374A>C	19.37:g.36205902A>C	ENSP00000376035:p.Lys125Thr					ZBTB32_uc002oaz.2_RNA	p.K125T	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		2	584	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		125					Q8WVP2	Missense_Mutation	SNP	ENST00000392197.2	37	c.374A>C	CCDS12471.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963743	0.34659	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.09817	2.94;2.94	5.73	1.29	0.21616	.	0.289558	0.25037	N	0.033629	T	0.07279	0.0184	L	0.32530	0.975	0.09310	N	1	B	0.17465	0.022	B	0.14578	0.011	T	0.27157	-1.0082	10	0.72032	D	0.01	-15.022	4.3768	0.11274	0.5977:0.1662:0.2361:0.0	.	125	Q9Y2Y4	ZBT32_HUMAN	T	125	ENSP00000262630:K125T;ENSP00000376035:K125T	ENSP00000262630:K125T	K	+	2	0	ZBTB32	40897742	0.138000	0.22547	0.071000	0.20095	0.163000	0.22366	0.783000	0.26802	0.417000	0.25871	0.533000	0.62120	AAG		0.577	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3		NM_014383		20	88	0	0	0	0.007413	0	20	88		
HNRNPL	3191	broad.mit.edu	37	19	39329230	39329230	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:39329230T>C	ENST00000221419.5	-	10	1730	c.1364A>G	c.(1363-1365)aAg>aGg	p.K455R	HNRNPL_ENST00000600873.1_Missense_Mutation_p.K322R|AC104534.3_ENST00000594769.1_Missense_Mutation_p.S72G	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	455	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.K322R(1)|p.K455R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGCTGGCTGCTTGGAGACACT	0.542																																						uc010xul.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1363-1365)AAG>AGG		heterogeneous nuclear ribonucleoprotein L							53.0	44.0	47.0					19																	39329230		2203	4300	6503	SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39329230T>C	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1364A>G	19.37:g.39329230T>C	ENSP00000221419:p.Lys455Arg					HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.K111R|HNRNPL_uc002ojo.1_Missense_Mutation_p.K33R|HNRNPL_uc002ojk.2_Missense_Mutation_p.K111R|HNRNPL_uc002ojl.2_Missense_Mutation_p.K111R|HNRNPL_uc010xum.1_Missense_Mutation_p.K322R	p.K455R	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		10	1375	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		455			RRM 3.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.1364A>G	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	T	33	5.265059	0.95399	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	L	0.54863	1.705	0.80722	D	1	P;P;D	0.58970	0.781;0.956;0.984	P;P;P	0.62649	0.658;0.58;0.905	T	0.75964	-0.3132	9	0.72032	D	0.01	.	15.8048	0.78491	0.0:0.0:0.0:1.0	.	455;424;438	P14866;B2R959;Q6NTA2	HNRPL_HUMAN;.;.	R	455;322;322	.	ENSP00000221419:K455R	K	-	2	0	HNRNPL	44021070	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.762000	0.85270	2.371000	0.80710	0.533000	0.62120	AAG		0.542	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1				11	66	0	0	0	0.016723	0	11	66		
PLEKHG2	64857	broad.mit.edu	37	19	39909602	39909602	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:39909602C>T	ENST00000409794.3	+	11	2072	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R408C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R349C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R408C|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R408C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	408	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R408C(1)|p.R366C(1)|p.R349C(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGTCTCCAGCGCCTCTTCTT	0.612																																						uc010xuz.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	skin(2)|pancreas(1)|breast(1)	4						c.(1222-1224)CGC>TGC		common-site lymphoma/leukemia guanine nucleotide							93.0	102.0	99.0					19																	39909602		2203	4300	6503	SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39909602C>T	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1222C>T	19.37:g.39909602C>T	ENSP00000386733:p.Arg408Cys					PLEKHG2_uc010xuy.1_Missense_Mutation_p.R349C|PLEKHG2_uc002olj.2_Missense_Mutation_p.R408C|PLEKHG2_uc010xva.1_Missense_Mutation_p.R215C	p.R408C	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		11	1547	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		408			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	ENST00000409794.3	37	c.1222C>T	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933904	0.73442	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	4.6	4.6	0.57074	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.197178	0.29205	N	0.012832	D	0.91161	0.7216	L	0.41492	1.28	0.58432	D	0.999999	D;D;D;D	0.71674	0.996;0.998;0.998;0.997	P;P;P;D	0.64321	0.888;0.65;0.836;0.924	D	0.92302	0.5850	10	0.87932	D	0	.	16.3372	0.83068	0.0:1.0:0.0:0.0	.	408;408;349;408	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.;PKHG2_HUMAN;.;.	C	408;408;408;349;408	ENSP00000386733:R408C;ENSP00000392906:R408C;ENSP00000367812:R408C;ENSP00000408857:R349C;ENSP00000386492:R408C	ENSP00000367812:R408C	R	+	1	0	PLEKHG2	44601442	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.244000	0.32778	2.409000	0.81822	0.462000	0.41574	CGC		0.612	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1		NM_022835		86	180	0	0	0	0.01441	0	86	180		
C19orf54	284325	broad.mit.edu	37	19	41248527	41248527	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:41248527G>A	ENST00000378313.2	-	6	986	c.867C>T	c.(865-867)tcC>tcT	p.S289S	C19orf54_ENST00000339153.3_Silent_p.S117S|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000598729.1_Silent_p.S117S|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000470681.1_3'UTR	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	289								p.P148L(1)|p.S289S(1)		breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCCCTGCTTGGACAGCAGGT	0.657																																						uc002oou.1		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(2)		0						c.(865-867)TCC>TCT		hypothetical protein LOC284325							45.0	39.0	41.0					19																	41248527		2203	4300	6503	SO:0001819	synonymous_variant	284325							g.chr19:41248527G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.867C>T	19.37:g.41248527G>A						C19orf54_uc002oow.1_Silent_p.S117S|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA	p.S289S	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	987	-			289					A8MSZ5|B4DNU7	Silent	SNP	ENST00000378313.2	37	c.867C>T	CCDS12564.2																																																																																				0.657	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1		NM_198476		10	34	0	0	0	0.008291	0	10	34		
CEACAM6	4680	broad.mit.edu	37	19	42260767	42260767	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:42260767G>A	ENST00000199764.6	+	2	542	c.324G>A	c.(322-324)ctG>ctA	p.L108L	AC011513.4_ENST00000601409.1_RNA|CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	108	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L108L(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CATCCCTGCTGATCCAGAACG	0.458																																						uc002orm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(322-324)CTG>CTA		carcinoembryonic antigen-related cell adhesion							319.0	304.0	309.0					19																	42260767		2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260767G>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.324G>A	19.37:g.42260767G>A							p.L108L	NM_002483	NP_002474	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	473	+			108			Ig-like V-type.		Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.324G>A	CCDS12585.1																																																																																				0.458	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1				166	382	0	0	0	0.01441	0	166	382		
ERCC2	2068	broad.mit.edu	37	19	45856352	45856352	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:45856352C>G	ENST00000391945.4	-	19	1897	c.1820G>C	c.(1819-1821)gGa>gCa	p.G607A	ERCC2_ENST00000391944.3_Missense_Mutation_p.G529A	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	607	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|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)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.G607A(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AAAGTCGATTCCCTCGGACAC	0.642			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|pancreas(1)	3						c.(1819-1821)GGA>GCA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							53.0	54.0	54.0					19																	45856352		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|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|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45856352C>G		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1820G>C	19.37:g.45856352C>G	ENSP00000375809:p.Gly607Ala					ERCC2_uc002pbh.2_Missense_Mutation_p.G170A|ERCC2_uc002pbi.2_Missense_Mutation_p.G300A|ERCC2_uc010ejz.2_Missense_Mutation_p.G529A|ERCC2_uc002pbk.2_Missense_Mutation_p.G583A	p.G607A	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	19	1867	-		Ovarian(192;0.0728)|all_neural(266;0.112)	607			Mediates interaction with MMS19.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1820G>C	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654681	0.67472	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.93604	-3.25;-3.25	5.65	5.65	0.86999	Helicase, ATP-dependent, c2 type (1);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	H	0.99042	4.41	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.996;0.996;1.0	D	0.99572	1.0971	10	0.87932	D	0	-21.0197	17.2199	0.86954	0.0:1.0:0.0:0.0	.	529;607;300	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	A	557;583;607;529	ENSP00000375809:G607A;ENSP00000375808:G529A	ENSP00000375805:G557A	G	-	2	0	ERCC2	50548192	1.000000	0.71417	0.961000	0.40146	0.093000	0.18481	6.963000	0.76055	2.667000	0.90743	0.561000	0.74099	GGA		0.642	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		43	109	0	0	0	0.01441	0	43	109		
GIPR	2696	broad.mit.edu	37	19	46172841	46172841	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:46172841G>A	ENST00000590918.1	+	2	162	c.63G>A	c.(61-63)caG>caA	p.Q21Q	GIPR_ENST00000304207.8_Silent_p.Q21Q|GIPR_ENST00000263281.3_Silent_p.Q21Q	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	21					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)	p.Q21Q(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGCTGCTCCAGAGGGCGGAGG	0.657																																						uc002pcu.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(61-63)CAG>CAA		gastric inhibitory polypeptide receptor							29.0	19.0	23.0					19																	46172841		2197	4295	6492	SO:0001819	synonymous_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46172841G>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.63G>A	19.37:g.46172841G>A						GIPR_uc002pct.1_Silent_p.Q21Q|GIPR_uc010xxp.1_Silent_p.Q21Q|GIPR_uc010xxq.1_RNA	p.Q21Q	NM_000164	NP_000155	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	2	162	+		Ovarian(192;0.051)|all_neural(266;0.112)	21					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	ENST00000590918.1	37	c.63G>A	CCDS12671.1																																																																																				0.657	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1				6	12	0	0	0	0.00308	0	6	12		
SLC6A16	28968	broad.mit.edu	37	19	49797169	49797169	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:49797169G>A	ENST00000335875.4	-	9	1774	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	SLC6A16_ENST00000454748.3_Silent_p.S511S	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	511					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S511S(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CTATTGCGCTGCTCAGCCCCA	0.483																																						uc002pmz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(2)|ovary(1)|kidney(1)	4						c.(1531-1533)AGC>AGT		solute carrier family 6, member 16							179.0	181.0	180.0					19																	49797169		2031	4199	6230	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49797169G>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1533C>T	19.37:g.49797169G>A						SLC6A16_uc002pna.2_Silent_p.S511S	p.S511S	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	9	1767	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	511			Helical; Name=8; (Potential).		Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.1533C>T	CCDS42590.1																																																																																				0.483	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2		NM_014037		86	176	0	0	0	0.01441	0	86	176		
VRK3	51231	broad.mit.edu	37	19	50492998	50492998	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:50492998G>A	ENST00000599538.1	-	11	1658	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	VRK3_ENST00000601341.1_Missense_Mutation_p.R282C|VRK3_ENST00000316763.3_Missense_Mutation_p.R332C|VRK3_ENST00000594092.1_Missense_Mutation_p.R332C|VRK3_ENST00000594948.1_Missense_Mutation_p.R332C|VRK3_ENST00000593919.1_Missense_Mutation_p.R332C|VRK3_ENST00000601912.1_Missense_Mutation_p.R282C|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000443401.2_Missense_Mutation_p.R101C|VRK3_ENST00000377011.2_Missense_Mutation_p.R282C			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R332C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCAATAGCGGAAGGCGAAG	0.552																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	uc002prg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	stomach(1)|skin(1)	2						c.(994-996)CGC>TGC		vaccinia related kinase 3 isoform 1							65.0	54.0	58.0					19																	50492998		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50492998G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.994C>T	19.37:g.50492998G>A	ENSP00000469880:p.Arg332Cys					VRK3_uc002prh.1_Missense_Mutation_p.R332C|VRK3_uc002pri.1_Missense_Mutation_p.R282C|VRK3_uc010ens.2_Missense_Mutation_p.R332C|VRK3_uc010ybl.1_Missense_Mutation_p.R282C|VRK3_uc010ybm.1_Missense_Mutation_p.R101C|VRK3_uc002prj.1_Missense_Mutation_p.R282C|VRK3_uc002prk.1_Missense_Mutation_p.R332C|VRK3_uc010ent.1_Missense_Mutation_p.R88C|VRK3_uc002prl.2_Missense_Mutation_p.R332C|VRK3_uc010ybn.1_3'UTR	p.R332C	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	11	1092	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	332			Protein kinase.		A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.994C>T	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034515	0.75617	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000443401	T;T;T	0.07114	3.22;3.22;3.22	4.57	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	M	0.91612	3.225	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	T	0.45381	-0.9265	10	0.87932	D	0	-22.9925	15.247	0.73513	0.0:0.0:1.0:0.0	.	101;332;282;332	B4DGW1;Q8IV63-2;A6NEG5;Q8IV63	.;.;.;VRK3_HUMAN	C	332;282;101	ENSP00000324636:R332C;ENSP00000366210:R282C;ENSP00000414907:R101C	ENSP00000324636:R332C	R	-	1	0	VRK3	55184810	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.100000	0.57762	2.548000	0.85928	0.655000	0.94253	CGC		0.552	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1		NM_016440		20	28	0	0	0	0.012319	0	20	28		
ZNF813	126017	broad.mit.edu	37	19	53994029	53994029	+	Silent	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr19:53994029T>G	ENST00000396403.4	+	4	671	c.543T>G	c.(541-543)tcT>tcG	p.S181S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	181					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.S181S(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGAATTTCTTGTAGGCCCA	0.388																																						uc002qbu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(1)	1						c.(541-543)TCT>TCG		zinc finger protein 813							93.0	104.0	101.0					19																	53994029		2174	4290	6464	SO:0001819	synonymous_variant	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53994029T>G	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.543T>G	19.37:g.53994029T>G						ZNF813_uc010eqq.1_Intron	p.S181S	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	671	+			181						Silent	SNP	ENST00000396403.4	37	c.543T>G	CCDS46172.1																																																																																				0.388	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1		NM_001004301		44	248	0	0	0	0.011902	0	44	248		
PNPT1	87178	broad.mit.edu	37	2	55895071	55895071	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:55895071T>C	ENST00000447944.2	-	12	1085	c.999A>G	c.(997-999)ccA>ccG	p.P333P		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	333					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.P333P(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTATTTCATATGGATCGGCTT	0.274																																						uc002rzf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(997-999)CCA>CCG		polyribonucleotide nucleotidyltransferase 1							46.0	49.0	48.0					2																	55895071		2199	4291	6490	SO:0001819	synonymous_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55895071T>C	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.999A>G	2.37:g.55895071T>C						PNPT1_uc002rzg.2_RNA	p.P333P	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		12	1052	-			333					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	37	c.999A>G	CCDS1856.1																																																																																				0.274	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2		NM_033109		22	61	0	0	0	0.010818	0	22	61		
DYSF	8291	broad.mit.edu	37	2	71795448	71795448	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:71795448G>T	ENST00000258104.3	+	26	3067	c.2790G>T	c.(2788-2790)tgG>tgT	p.W930C	DYSF_ENST00000410041.1_Missense_Mutation_p.W948C|DYSF_ENST00000394120.2_Missense_Mutation_p.W931C|DYSF_ENST00000409651.1_Missense_Mutation_p.W962C|DYSF_ENST00000409744.1_Missense_Mutation_p.W917C|DYSF_ENST00000409582.3_Missense_Mutation_p.W947C|DYSF_ENST00000409762.1_Missense_Mutation_p.W947C|DYSF_ENST00000429174.2_Missense_Mutation_p.W930C|DYSF_ENST00000410020.3_Missense_Mutation_p.W948C|DYSF_ENST00000409366.1_Missense_Mutation_p.W931C|DYSF_ENST00000413539.2_Missense_Mutation_p.W961C	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	930			W -> C (in LGMD2B; unknown pathological significance). {ECO:0000269|PubMed:16996541, ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.W948C(1)|p.W930C(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGGAGATTGGTTCGTGTGTC	0.647																																						uc002sie.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7	GRCh37	CM066563	DYSF	M		c.(2788-2790)TGG>TGT		dysferlin isoform 8							183.0	196.0	192.0					2																	71795448		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795448G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2790G>T	2.37:g.71795448G>T	ENSP00000258104:p.Trp930Cys					DYSF_uc010feg.2_Missense_Mutation_p.W961C|DYSF_uc010feh.2_Missense_Mutation_p.W916C|DYSF_uc002sig.3_Missense_Mutation_p.W916C|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.W930C|DYSF_uc010fef.2_Missense_Mutation_p.W947C|DYSF_uc010fei.2_Missense_Mutation_p.W947C|DYSF_uc010fek.2_Missense_Mutation_p.W948C|DYSF_uc010fej.2_Missense_Mutation_p.W917C|DYSF_uc010fel.2_Missense_Mutation_p.W917C|DYSF_uc010feo.2_Missense_Mutation_p.W962C|DYSF_uc010fem.2_Missense_Mutation_p.W931C|DYSF_uc010fen.2_Missense_Mutation_p.W948C|DYSF_uc002sif.2_Missense_Mutation_p.W931C	p.W930C	NM_003494	NP_003485	O75923	DYSF_HUMAN			26	3166	+			930		W -> C (in LGMD2B; uncetain pathogenicity).	Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2790G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595755	0.66219	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.86956	-2.18;-2.19;-2.19;-2.18;-2.18;-2.18;-2.18;-2.19;-2.18;-2.18;-2.19	4.95	4.08	0.47627	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	M	0.81614	2.55	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.973;1.0;1.0;1.0;0.999	D	0.92918	0.6353	10	0.87932	D	0	-13.802	11.3767	0.49733	0.089:0.0:0.911:0.0	.	962;948;931;917;948;917;947;916;961;947;930;916;931;930	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	C	961;947;947;930;930;962;931;917;931;948;948	ENSP00000407046:W961C;ENSP00000387137:W947C;ENSP00000386547:W947C;ENSP00000398305:W930C;ENSP00000258104:W930C;ENSP00000386683:W962C;ENSP00000377678:W931C;ENSP00000386285:W917C;ENSP00000386512:W931C;ENSP00000386881:W948C;ENSP00000386617:W948C	ENSP00000258104:W930C	W	+	3	0	DYSF	71648956	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.807000	0.86032	1.097000	0.41459	-0.369000	0.07265	TGG		0.647	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3		NM_003494		222	460	1	0	2.56588e-125	0.01441	2.86143e-125	222	460		
SLC5A7	60482	broad.mit.edu	37	2	108604766	108604766	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:108604766T>C	ENST00000264047.2	+	2	431	c.155T>C	c.(154-156)tTg>tCg	p.L52S	SLC5A7_ENST00000409059.1_Missense_Mutation_p.L52S|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	52					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.L52S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATTGGTTTATTGGTTGGTGGA	0.542																																						uc002tdv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(154-156)TTG>TCG		solute carrier family 5 (choline transporter),	Choline(DB00122)						143.0	126.0	132.0					2																	108604766		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108604766T>C	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.155T>C	2.37:g.108604766T>C	ENSP00000264047:p.Leu52Ser					SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.L52S|SLC5A7_uc010ywn.1_Intron	p.L52S	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			2	431	+			52			Helical; (Potential).		Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.155T>C	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209074	0.58343	.	.	ENSG00000115665	ENST00000409059;ENST00000264047	D;D	0.88664	-2.41;-2.41	5.76	5.76	0.90799	.	0.059204	0.64402	D	0.000002	D	0.89729	0.6799	M	0.63843	1.955	0.80722	D	1	B	0.32467	0.372	B	0.39771	0.309	D	0.89098	0.3487	10	0.54805	T	0.06	-14.8053	16.3634	0.83296	0.0:0.0:0.0:1.0	.	52	Q9GZV3	SC5A7_HUMAN	S	52	ENSP00000387346:L52S;ENSP00000264047:L52S	ENSP00000264047:L52S	L	+	2	0	SLC5A7	107971198	1.000000	0.71417	0.622000	0.29159	0.463000	0.32649	7.655000	0.83696	2.324000	0.78689	0.533000	0.62120	TTG		0.542	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1				30	76	0	0	0	0.012213	0	30	76		
THSD7B	80731	broad.mit.edu	37	2	137814383	137814383	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:137814383G>A	ENST00000409968.1	+	3	711	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	THSD7B_ENST00000543459.1_Missense_Mutation_p.R37Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.R147Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R178Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	178						integral component of membrane (GO:0016021)		p.R147Q(1)|p.R178Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTGTCCCCGGGATTGTGTA	0.498																																						uc002tva.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(439-441)CGG>CAG		thrombospondin, type I, domain containing 7B							191.0	189.0	190.0					2																	137814383		1982	4158	6140	SO:0001583	missense	80731							g.chr2:137814383G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.533G>A	2.37:g.137814383G>A	ENSP00000387145:p.Arg178Gln					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.R37Q	p.R147Q	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	440	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.440G>A		.	.	.	.	.	.	.	.	.	.	G	7.827	0.719048	0.15372	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.20738	2.59;2.45;2.05;2.05	6.07	6.07	0.98685	.	0.107759	0.64402	D	0.000003	T	0.10766	0.0263	N	0.13235	0.315	0.42364	D	0.99242	B;B	0.34181	0.44;0.44	B;B	0.25987	0.044;0.065	T	0.22906	-1.0203	10	0.10636	T	0.68	.	13.4604	0.61223	0.0718:0.0:0.9282:0.0	.	178;147	Q9C0I4;C9JKN6	THS7B_HUMAN;.	Q	178;178;147;37	ENSP00000387145:R178Q;ENSP00000272643:R178Q;ENSP00000413841:R147Q;ENSP00000443370:R37Q	ENSP00000272643:R178Q	R	+	2	0	THSD7B	137530853	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	2.946000	0.49050	2.890000	0.99128	0.585000	0.79938	CGG		0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9		48	324	0	0	0	0.01441	0	48	324		
PKP4	8502	broad.mit.edu	37	2	159519804	159519804	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:159519804C>T	ENST00000389759.3	+	15	2536	c.2424C>T	c.(2422-2424)atC>atT	p.I808I	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Silent_p.I808I|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	808					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.I808I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTGGTCCTATCCCAGGACTGT	0.483										HNSCC(62;0.18)																												uc002tzv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|skin(2)	7						c.(2422-2424)ATC>ATT		plakophilin 4 isoform a							75.0	70.0	72.0					2																	159519804		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159519804C>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2424C>T	2.37:g.159519804C>T		HNSCC(62;0.18)				PKP4_uc002tzu.2_Silent_p.I808I|PKP4_uc002tzw.2_Silent_p.I808I|PKP4_uc002tzx.2_Silent_p.I465I|PKP4_uc002uaa.2_Silent_p.I660I|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR	p.I808I	NM_003628	NP_003619	Q99569	PKP4_HUMAN			15	2684	+			808					Q86W91	Silent	SNP	ENST00000389759.3	37	c.2424C>T	CCDS33305.1																																																																																				0.483	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1				21	54	0	0	0	0.012319	0	21	54		
XIRP2	129446	broad.mit.edu	37	2	168104737	168104737	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:168104737G>A	ENST00000409195.1	+	9	6924	c.6835G>A	c.(6835-6837)Gag>Aag	p.E2279K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2057K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2279K|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2104					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.E2279K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTTAACCCTGAGAATAATGT	0.413																																						uc002udx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(6835-6837)GAG>AAG		xin actin-binding repeat containing 2 isoform 1							68.0	65.0	66.0					2																	168104737		1892	4103	5995	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104737G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6835G>A	2.37:g.168104737G>A	ENSP00000386840:p.Glu2279Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2104K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2057K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.E2279K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	6853	+			2104					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.6835G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013154	0.54468	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.21543	2.0;2.0;2.0	6.17	6.17	0.99709	.	0.471967	0.23795	N	0.044484	T	0.22166	0.0534	L	0.57536	1.79	0.44149	D	0.996945	B;P;P	0.40431	0.335;0.465;0.717	B;B;B	0.37198	0.123;0.243;0.243	T	0.01305	-1.1390	10	0.27785	T	0.31	-14.315	13.5813	0.61905	0.0738:0.0:0.9262:0.0	.	2104;2104;2057	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2279;2279;2057	ENSP00000386840:E2279K;ENSP00000295237:E2279K;ENSP00000387255:E2057K	ENSP00000295237:E2279K	E	+	1	0	XIRP2	167812983	0.339000	0.24784	0.996000	0.52242	0.789000	0.44602	1.349000	0.33998	2.941000	0.99782	0.655000	0.94253	GAG		0.413	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		36	88	0	0	0	0.017118	0	36	88		
TTN	7273	broad.mit.edu	37	2	179616127	179616127	+	Intron	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:179616127T>G	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K3667T|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			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)			GTAATCTGTTTTCTTGGCAGA	0.363																																						uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10999-11001)AAA>ACA		titin isoform novex-3							123.0	112.0	116.0					2																	179616127		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616127T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1723A>C	2.37:g.179616127T>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.K3667T	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11224	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11000A>C		.	.	.	.	.	.	.	.	.	.	T	6.586	0.476465	0.12521	.	.	ENSG00000155657	ENST00000360870	T	0.61040	0.14	5.54	0.2	0.15181	.	.	.	.	.	T	0.40815	0.1132	N	0.14661	0.345	0.19945	N	0.999942	P	0.42692	0.787	P	0.46076	0.503	T	0.29640	-1.0005	9	0.18710	T	0.47	.	8.4202	0.32696	0.0:0.4226:0.0:0.5774	.	3667	Q8WZ42-6	.	T	3667	ENSP00000354117:K3667T	ENSP00000354117:K3667T	K	-	2	0	TTN	179324372	0.080000	0.21391	0.757000	0.31301	0.526000	0.34562	0.142000	0.16096	0.156000	0.19299	0.459000	0.35465	AAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		50	106	0	0	0	0.01441	0	50	106		
ADAM23	8745	broad.mit.edu	37	2	207436497	207436497	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:207436497C>A	ENST00000264377.3	+	17	1941	c.1613C>A	c.(1612-1614)gCt>gAt	p.A538D	ADAM23_ENST00000374416.1_Missense_Mutation_p.A538D|ADAM23_ENST00000374415.3_Missense_Mutation_p.A538D	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	538	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A538D(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TCCAACGGGGCTCACTGCAGC	0.443																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(2)|ovary(1)	3						c.(1612-1614)GCT>GAT		ADAM metallopeptidase domain 23 preproprotein							132.0	124.0	127.0					2																	207436497		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207436497C>A	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1613C>A	2.37:g.207436497C>A	ENSP00000264377:p.Ala538Asp					ADAM23_uc010ziv.1_RNA	p.A538D	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	17	1836	+			538			Disintegrin.|Extracellular (Potential).		A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.1613C>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884395	0.91814	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.13901	2.55;2.55;2.55	6.16	6.16	0.99307	Blood coagulation inhibitor, Disintegrin (4);	0.000000	0.64402	D	0.000009	T	0.58722	0.2142	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74343	-0.3696	10	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	538	O75077	ADA23_HUMAN	D	538;538;432;538	ENSP00000264377:A538D;ENSP00000363537:A538D;ENSP00000363536:A538D	ENSP00000264377:A538D	A	+	2	0	ADAM23	207144742	1.000000	0.71417	0.945000	0.38365	0.846000	0.48090	6.521000	0.73778	2.937000	0.99478	0.650000	0.86243	GCT		0.443	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2		NM_003812		14	124	1	0	1.99824e-07	0.00499	2.09667e-07	14	124		
ZNF133	7692	broad.mit.edu	37	20	18295856	18295856	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:18295856G>T	ENST00000316358.4	+	4	458	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	ZNF133_ENST00000535822.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000402618.2_Missense_Mutation_p.D58Y|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.D124Y|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000377671.3_Missense_Mutation_p.D120Y|ZNF133_ENST00000538547.1_Missense_Mutation_p.D26Y|ZNF133_ENST00000401790.1_Missense_Mutation_p.D121Y	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	121					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.D120Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CCAGCCTGGGGATCCGGGCCC	0.562																																						uc010gcq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)	2						c.(361-363)GAT>TAT		zinc finger protein 133							88.0	90.0	90.0					20																	18295856		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18295856G>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.361G>T	20.37:g.18295856G>T	ENSP00000346090:p.Asp121Tyr					ZNF133_uc010zrv.1_Missense_Mutation_p.D124Y|ZNF133_uc010zrw.1_Missense_Mutation_p.D58Y|ZNF133_uc010gcr.2_Missense_Mutation_p.D121Y|ZNF133_uc010zrx.1_Missense_Mutation_p.D26Y|ZNF133_uc002wql.3_Missense_Mutation_p.D120Y|ZNF133_uc010gcs.2_Missense_Mutation_p.D120Y|ZNF133_uc010zry.1_Missense_Mutation_p.D26Y|ZNF133_uc002wqm.2_Missense_Mutation_p.D121Y	p.D121Y	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	666	+			121					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.361G>T		.	.	.	.	.	.	.	.	.	.	G	2.717	-0.267415	0.05754	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000434018;ENST00000538547;ENST00000535822;ENST00000316358;ENST00000425686	T;T;T;T;T;T;T;T;T	0.08102	3.34;3.28;3.13;3.29;5.53;3.17;3.17;3.29;5.53	4.12	2.16	0.27623	.	0.742875	0.11922	N	0.516600	T	0.09247	0.0228	L	0.50333	1.59	0.09310	N	1	P;P;P;B	0.44877	0.845;0.716;0.833;0.002	B;B;B;B	0.41571	0.36;0.232;0.332;0.012	T	0.22977	-1.0201	10	0.62326	D	0.03	-2.7804	6.2377	0.20772	0.2254:0.0:0.7746:0.0	.	58;124;121;120	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	Y	120;124;58;121;121;26;26;121;121	ENSP00000366899:D120Y;ENSP00000400897:D124Y;ENSP00000385279:D58Y;ENSP00000383945:D121Y;ENSP00000403835:D121Y;ENSP00000442978:D26Y;ENSP00000439427:D26Y;ENSP00000346090:D121Y;ENSP00000406638:D121Y	ENSP00000346090:D121Y	D	+	1	0	ZNF133	18243856	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.415000	0.21181	0.681000	0.31386	0.655000	0.94253	GAT		0.562	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1		NM_003434		79	185	1	0	3.47267e-51	0.01441	3.83254e-51	79	185		
POFUT1	23509	broad.mit.edu	37	20	30803206	30803206	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:30803206T>C	ENST00000375749.3	+	3	443	c.381T>C	c.(379-381)ttT>ttC	p.F127F	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Silent_p.F127F	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	127					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)	p.F127F(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CATACTGCTTTGAGGTGGCAG	0.602																																						uc002wxp.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(1)	1						c.(379-381)TTT>TTC		protein O-fucosyltransferase 1 isoform 1							79.0	84.0	82.0					20																	30803206		2203	4300	6503	SO:0001819	synonymous_variant	23509				fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity	g.chr20:30803206T>C	AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.381T>C	20.37:g.30803206T>C						POFUT1_uc002wxo.2_Silent_p.F127F|POFUT1_uc010ztt.1_Silent_p.F19F|POFUT1_uc010ztu.1_Intron	p.F127F	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	430	+			127					A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Silent	SNP	ENST00000375749.3	37	c.381T>C	CCDS13198.1																																																																																				0.602	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1		NM_015352		85	180	0	0	0	0.01441	0	85	180		
CDK5RAP1	51654	broad.mit.edu	37	20	31962020	31962020	+	Splice_Site	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:31962020T>G	ENST00000357886.4	-	10	1303		c.e10-2		CDK5RAP1_ENST00000477105.1_Splice_Site|CDK5RAP1_ENST00000339269.5_Splice_Site|CDK5RAP1_ENST00000346416.2_Splice_Site|CDK5RAP1_ENST00000473997.1_Splice_Site|CDK5RAP1_ENST00000544843.1_Splice_Site			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1						brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGCAGAACCTGATGAAACAG	0.463																																						uc010gek.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(2)|skin(2)|lung(1)	5						c.e10-1		CDK5 regulatory subunit associated protein 1							93.0	88.0	90.0					20																	31962020		2203	4300	6503	SO:0001630	splice_region_variant	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31962020T>G	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.1150-2A>C	20.37:g.31962020T>G						CDK5RAP1_uc002wyy.2_Splice_Site_p.V280_splice|CDK5RAP1_uc002wyz.2_Splice_Site_p.V370_splice|CDK5RAP1_uc002wza.2_Splice_Site_p.V370_splice|CDK5RAP1_uc010gel.2_Splice_Site_p.V279_splice|CDK5RAP1_uc010gem.2_Splice_Site_p.V293_splice|CDK5RAP1_uc002wzc.1_Splice_Site_p.V370_splice|CDK5RAP1_uc002wzb.1_5'Flank	p.V384_splice	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			10	1274	-								A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Splice_Site	SNP	ENST00000357886.4	37	c.1150_splice		.	.	.	.	.	.	.	.	.	.	T	21.9	4.210034	0.79240	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000544843	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1458	0.65349	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDK5RAP1	31425681	1.000000	0.71417	0.982000	0.44146	0.953000	0.61014	7.574000	0.82434	2.275000	0.75901	0.533000	0.62120	.		0.463	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1		NM_016408	Intron	27	155	0	0	0	0.021523	0	27	155		
TRPC4AP	26133	broad.mit.edu	37	20	33680620	33680620	+	5'UTR	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:33680620C>T	ENST00000252015.2	-	0	54				TRPC4AP_ENST00000432634.2_5'Flank|TRPC4AP_ENST00000451813.2_5'Flank			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						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)			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)			CAAGCGGCCTCGGGGCCGCGG	0.746																																						uc002xbk.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.e1-1		TRPC4-associated protein isoform a							4.0	5.0	5.0					20																	33680620		1173	2740	3913	SO:0001623	5_prime_UTR_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33680620C>T	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.-36G>A	20.37:g.33680620C>T						TRPC4AP_uc002xbl.2_Splice_Site|TRPC4AP_uc010zur.1_Splice_Site|TRPC4AP_uc002xbm.1_Splice_Site		NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		1	1	-								E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Splice_Site	SNP	ENST00000252015.2	37	c.-33_splice	CCDS13246.1																																																																																				0.746	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2		NM_015638		3	10	0	0	0	0.014758	0	3	10		
CPNE1	8904	broad.mit.edu	37	20	34214192	34214192	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr20:34214192T>C	ENST00000317619.3	-	18	1979	c.1585A>G	c.(1585-1587)Aag>Gag	p.K529E	CPNE1_ENST00000397442.1_Missense_Mutation_p.K473E|CPNE1_ENST00000317677.5_Missense_Mutation_p.K534E|CPNE1_ENST00000397443.1_Missense_Mutation_p.K529E|CPNE1_ENST00000397446.1_Missense_Mutation_p.K529E|CPNE1_ENST00000397445.1_Missense_Mutation_p.K529E|CPNE1_ENST00000352393.4_Missense_Mutation_p.K529E			Q99829	CPNE1_HUMAN	copine I	529					lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.K529E(1)		breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCAGGATCCTTGGCTGAGGGT	0.627																																						uc002xdf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)	1						c.(1585-1587)AAG>GAG		copine I isoform a							96.0	112.0	106.0					20																	34214192		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34214192T>C	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1585A>G	20.37:g.34214192T>C	ENSP00000326126:p.Lys529Glu					CPNE1_uc002xdc.2_Missense_Mutation_p.K191E|CPNE1_uc010zvj.1_Missense_Mutation_p.K534E|CPNE1_uc002xde.2_Missense_Mutation_p.K505E|CPNE1_uc002xdg.2_Missense_Mutation_p.K473E|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.K529E|CPNE1_uc002xdi.2_Missense_Mutation_p.K529E|CPNE1_uc002xdj.2_Missense_Mutation_p.K529E|CPNE1_uc002xdk.2_Missense_Mutation_p.K529E|CPNE1_uc002xdl.2_Missense_Mutation_p.K529E|CPNE1_uc002xdm.2_Missense_Mutation_p.K529E	p.K529E	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		18	1948	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		529					E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.1585A>G	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344598	0.24339	.	.	ENSG00000214078	ENST00000352393;ENST00000415920;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340	T;T;T;T;T;T;T;T	0.05580	3.57;3.57;3.57;3.57;3.57;3.57;3.53;3.42	5.27	5.27	0.74061	.	34.841300	0.00465	U	0.000112	T	0.16300	0.0392	N	0.22421	0.69	0.30242	N	0.794882	B;P;B;D;P	0.63880	0.003;0.956;0.204;0.993;0.608	B;D;B;D;B	0.70935	0.004;0.931;0.036;0.971;0.108	T	0.18903	-1.0322	10	0.25751	T	0.34	-10.0243	11.5098	0.50486	0.0:0.0:0.0:1.0	.	534;473;529;509;528	B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.;.;CPNE1_HUMAN;.;.	E	529;169;534;529;529;529;529;473;528	ENSP00000336945:K529E;ENSP00000317257:K534E;ENSP00000326126:K529E;ENSP00000380588:K529E;ENSP00000380587:K529E;ENSP00000380585:K529E;ENSP00000380584:K473E;ENSP00000415597:K528E	ENSP00000326126:K529E	K	-	1	0	CPNE1	33677606	0.971000	0.33674	0.973000	0.42090	0.395000	0.30598	1.011000	0.29911	2.209000	0.71365	0.460000	0.39030	AAG		0.627	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3		NM_152930		88	207	0	0	0	0.01441	0	88	207		
ICOSLG	23308	broad.mit.edu	37	21	45651249	45651249	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr21:45651249A>C	ENST00000407780.3	-	5	903	c.776T>G	c.(775-777)aTc>aGc	p.I259S	ICOSLG_ENST00000400379.3_Missense_Mutation_p.I259S|ICOSLG_ENST00000400377.3_Missense_Mutation_p.I142S|ICOSLG_ENST00000344330.4_Missense_Mutation_p.I259S	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	259					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.I259S(1)		endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GACAGCCAGGATGCTCCACGT	0.562																																						uc002zee.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(775-777)ATC>AGC		inducible T-cell co-stimulator ligand precursor							99.0	111.0	107.0					21																	45651249		2158	4246	6404	SO:0001583	missense	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45651249A>C	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.776T>G	21.37:g.45651249A>C	ENSP00000384432:p.Ile259Ser					ICOSLG_uc011afc.1_Missense_Mutation_p.I169S|ICOSLG_uc002zef.2_Missense_Mutation_p.I142S|ICOSLG_uc010gpp.1_Missense_Mutation_p.I259S	p.I259S	NM_015259	NP_056074	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	5	910	-			259			Helical; (Potential).		A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	c.776T>G	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	A	8.214	0.800988	0.16397	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	T;T;T;T	0.16897	5.26;5.27;4.92;2.31	2.28	-3.48	0.04739	.	1.163750	0.06433	N	0.724558	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B;B;B	0.22003	0.02;0.063;0.02	B;B;B	0.15052	0.007;0.012;0.007	T	0.34378	-0.9831	10	0.45353	T	0.12	.	4.3385	0.11097	0.3268:0.2125:0.4607:0.0	.	259;142;259	A0N0L8;A8MUZ1;O75144	.;.;ICOSL_HUMAN	S	259;259;259;142	ENSP00000339477:I259S;ENSP00000384432:I259S;ENSP00000383230:I259S;ENSP00000383228:I142S	ENSP00000339477:I259S	I	-	2	0	ICOSLG	44475677	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.253000	0.08794	-0.891000	0.03940	-1.212000	0.01626	ATC		0.562	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1		NM_015259		25	45	0	0	0	0.009535	0	25	45		
EP300	2033	broad.mit.edu	37	22	41489057	41489057	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:41489057A>G	ENST00000263253.7	+	1	1268	c.49A>G	c.(49-51)Aaa>Gaa	p.K17E	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	17	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.K17E(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGCGGCCTAAACTCTCATC	0.552			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NaN		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Substitution - Missense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(49-51)AAA>GAA		E1A binding protein p300							64.0	76.0	72.0					22																	41489057		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41489057A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.49A>G	22.37:g.41489057A>G	ENSP00000263253:p.Lys17Glu						p.K17E	NM_001429	NP_001420	Q09472	EP300_HUMAN			1	444	+			17			Interaction with ALX1.|Nuclear localization signal (Potential).		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.49A>G	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.783618	0.90282	.	.	ENSG00000100393	ENST00000263253	D	0.90900	-2.75	4.7	3.64	0.41730	.	0.000000	0.41712	D	0.000826	D	0.92351	0.7573	L	0.51914	1.62	0.39300	D	0.964894	D	0.69078	0.997	D	0.70716	0.97	D	0.92089	0.5679	10	0.72032	D	0.01	.	9.4047	0.38453	0.8414:0.0:0.0:0.1586	.	17	Q09472	EP300_HUMAN	E	17	ENSP00000263253:K17E	ENSP00000263253:K17E	K	+	1	0	EP300	39819003	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.085000	0.89518	0.793000	0.33875	0.482000	0.46254	AAA		0.552	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1		NM_001429		75	132	0	0	0	0.01441	0	75	132		
ACO2	50	broad.mit.edu	37	22	41865168	41865168	+	Silent	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:41865168A>G	ENST00000216254.4	+	1	40	c.18A>G	c.(16-18)ctA>ctG	p.L6L	PHF5A_ENST00000491254.1_5'Flank|ACO2_ENST00000396512.3_Silent_p.L6L|PHF5A_ENST00000216252.3_5'Flank	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	6					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.L6L(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTACAGCCTACTGGTGACTC	0.647																																						uc003bac.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|ovary(1)|lung(1)	4						c.(16-18)CTA>CTG		aconitase 2, mitochondrial precursor							84.0	86.0	85.0					22																	41865168		2203	4300	6503	SO:0001819	synonymous_variant	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41865168A>G	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.18A>G	22.37:g.41865168A>G						PHF5A_uc003bab.2_5'Flank|ACO2_uc003bad.2_Silent_p.L6L	p.L6L	NM_001098	NP_001089	Q99798	ACON_HUMAN			1	40	+			6					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Silent	SNP	ENST00000216254.4	37	c.18A>G	CCDS14017.1																																																																																				0.647	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1		NM_001098		22	108	0	0	0	0.01892	0	22	108		
GTSE1	51512	broad.mit.edu	37	22	46704392	46704392	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:46704392C>T	ENST00000454366.1	+	4	526	c.314C>T	c.(313-315)gCt>gTt	p.A105V		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)		p.A105V(1)|p.A86V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TACAAAGAAGCTCACTTACTG	0.567																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(313-315)GCT>GTT		G-2 and S-phase expressed 1							69.0	78.0	74.0					22																	46704392		2203	4300	6503	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704392C>T	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.314C>T	22.37:g.46704392C>T	ENSP00000415430:p.Ala105Val					GTSE1_uc011aqz.1_5'UTR	p.A105V	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	526	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	86					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.314C>T	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916892	0.92249	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.43688	0.94	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72040	-0.4410	10	0.87932	D	0	-27.4575	19.5244	0.95197	0.0:1.0:0.0:0.0	.	86	Q9NYZ3	GTSE1_HUMAN	V	105;65	ENSP00000415430:A105V	ENSP00000354634:A65V	A	+	2	0	GTSE1	45083056	0.999000	0.42202	0.601000	0.28877	0.805000	0.45488	5.154000	0.64894	2.700000	0.92200	0.655000	0.94253	GCT		0.567	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2		NM_016426		28	133	0	0	0	0.005443	0	28	133		
CPT1B	1375	broad.mit.edu	37	22	51007850	51007850	+	Splice_Site	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr22:51007850T>A	ENST00000360719.2	-	19	2373	c.2236A>T	c.(2236-2238)Aac>Tac	p.N746Y	CPT1B_ENST00000457250.1_Splice_Site_p.N712Y|CPT1B_ENST00000312108.7_Splice_Site_p.N746Y|CPT1B_ENST00000395650.2_Splice_Site_p.N746Y|CPT1B_ENST00000440709.1_Splice_Site_p.N665Y|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Splice_Site_p.N746Y|CPT1B_ENST00000434492.2_Splice_Site_p.N541Y	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	746					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)	p.N746Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGCTGGGCGTTCTGTGGGAGC	0.537																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2236-2238)AAC>TAC		carnitine palmitoyltransferase 1B isoform a							106.0	107.0	107.0					22																	51007850		2203	4300	6503	SO:0001630	splice_region_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51007850T>A	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.2236-1A>T	22.37:g.51007850T>A						CPT1B_uc003bml.2_Missense_Mutation_p.N746Y|CPT1B_uc003bmm.2_Missense_Mutation_p.N746Y|CPT1B_uc003bmo.2_Missense_Mutation_p.N746Y|CPT1B_uc011asa.1_Missense_Mutation_p.N712Y|CPT1B_uc003bmn.2_Missense_Mutation_p.N746Y|CPT1B_uc011asb.1_Missense_Mutation_p.N665Y|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.N541Y|uc003bmr.1_5'Flank	p.N746Y	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	18	2398	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	746			Cytoplasmic (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.2236A>T	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536094	0.64972	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.11	5.11	0.69529	.	0.165207	0.51477	D	0.000082	D	0.94558	0.8247	M	0.87682	2.9	0.52501	D	0.999956	D;D;D;D	0.69078	0.995;0.967;0.993;0.997	D;D;D;D	0.66497	0.944;0.934;0.934;0.934	D	0.94624	0.7816	10	0.87932	D	0	-22.3819	7.6131	0.28142	0.0:0.0947:0.0:0.9053	.	665;712;541;746	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	Y	746;746;746;712;665;541;746	ENSP00000385486:N746Y;ENSP00000312189:N746Y;ENSP00000353945:N746Y;ENSP00000409342:N712Y;ENSP00000414713:N665Y;ENSP00000410966:N541Y;ENSP00000379011:N746Y	ENSP00000312189:N746Y	N	-	1	0	CPT1B	49354716	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.301000	0.51842	1.926000	0.55796	0.459000	0.35465	AAC		0.537	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5		NM_152246	Missense_Mutation	21	98	0	0	0	0.008871	0	21	98		
SUMF1	285362	broad.mit.edu	37	3	4508955	4508955	+	5'UTR	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:4508955G>C	ENST00000272902.5	-	0	10				SUMF1_ENST00000534863.1_5'Flank|SUMF1_ENST00000383843.5_5'Flank|SUMF1_ENST00000405420.2_5'UTR|SUMF1_ENST00000458465.2_5'Flank	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		ATGTGACCCGGTTGGTCACGT	0.577																																						uc003bpz.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.e1-1		sulfatase modifying factor 1 isoform 1							23.0	24.0	24.0					3																	4508955		2201	4299	6500	SO:0001623	5_prime_UTR_variant	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4508955G>C	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.-26C>G	3.37:g.4508955G>C						SUMF1_uc003bps.1_Splice_Site|SUMF1_uc011ass.1_Splice_Site|SUMF1_uc010hby.1_Splice_Site|SUMF1_uc011ast.1_Splice_Site		NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	1	1	-		Melanoma(143;0.068)|Colorectal(144;0.233)						B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Splice_Site	SNP	ENST00000272902.5	37	c.-24_splice	CCDS2564.1																																																																																				0.577	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2		NM_182760		5	16	0	0	0	0.014758	0	5	16		
MYRIP	25924	broad.mit.edu	37	3	40192632	40192632	+	Silent	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:40192632C>T	ENST00000302541.6	+	4	768	c.426C>T	c.(424-426)taC>taT	p.Y142Y	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.Y142Y|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000444716.1_Silent_p.Y142Y|MYRIP_ENST00000396217.3_Intron	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	142					intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.Y142Y(1)|p.Y142*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAACCTGTACAGGAAGCACC	0.552																																						uc003cka.2		NaN																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		urinary_tract(1)|lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(424-426)TAC>TAT		myosin VIIA and Rab interacting protein							36.0	37.0	37.0					3																	40192632		2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40192632C>T	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.426C>T	3.37:g.40192632C>T						MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.Y142Y|MYRIP_uc010hhw.2_Intron|MYRIP_uc010hhx.1_Silent_p.Y142Y|MYRIP_uc011ayz.1_5'UTR	p.Y142Y	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	4	561	+			142					B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.426C>T	CCDS2689.1																																																																																				0.552	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2		NM_015460		8	24	0	0	0	0.010729	0	8	24		
VIPR1	7433	broad.mit.edu	37	3	42577695	42577695	+	Silent	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:42577695G>T	ENST00000325123.4	+	13	1409	c.1296G>T	c.(1294-1296)acG>acT	p.T432T	VIPR1-AS1_ENST00000608869.1_RNA|VIPR1_ENST00000543411.1_Silent_p.T384T|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000438259.2_Silent_p.T222T|VIPR1_ENST00000433647.1_Silent_p.T391T|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	432					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.T432T(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)		CGTGCAGCACGCAGGTTTCCA	0.692																																						uc003clf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1294-1296)ACG>ACT		vasoactive intestinal peptide receptor 1							17.0	19.0	18.0					3																	42577695		2195	4291	6486	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.chr3:42577695G>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.1296G>T	3.37:g.42577695G>T						VIPR1_uc011azl.1_Silent_p.T384T|VIPR1_uc011azm.1_Silent_p.T222T|VIPR1_uc011azn.1_Silent_p.T405T|VIPR1_uc003clg.2_Silent_p.T77T	p.T432T	NM_004624	NP_004615	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	13	1420	+			432			Cytoplasmic (Potential).		A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	c.1296G>T	CCDS2698.1																																																																																				0.692	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4		NM_004624		4	15	1	0	0.00909568	0.009096	0.00931433	4	15		
BAP1	8314	broad.mit.edu	37	3	52440379	52440379	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:52440379C>G	ENST00000460680.1	-	9	1144	c.673G>C	c.(673-675)Gac>Cac	p.D225H	BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D225N(1)|p.D225H(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AAGCGGATGTCGTGGTAGGGC	0.632			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	uc003ddx.2		NaN		Rec	yes		3	3p21.31-p21.2	8314	N|Mis|F|S|O	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E			uveal melanoma|breast|NSCLC		2	Substitution - Missense(2)		urinary_tract(1)|NS(1)	pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(673-675)GAC>CAC		BRCA1 associated protein-1							80.0	63.0	69.0					3																	52440379		2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52440379C>G	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.673G>C	3.37:g.52440379C>G	ENSP00000417132:p.Asp225His					BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank	p.D225H	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	9	788	-			225					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.673G>C	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146832	0.94603	.	.	ENSG00000163930	ENST00000460680	T	0.47869	0.83	6.04	6.04	0.98038	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.70850	-0.4760	10	0.87932	D	0	-7.7434	20.5891	0.99427	0.0:1.0:0.0:0.0	.	225	Q92560	BAP1_HUMAN	H	225	ENSP00000417132:D225H	ENSP00000417132:D225H	D	-	1	0	BAP1	52415419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.876000	0.98609	0.650000	0.86243	GAC		0.632	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1				25	21	0	0	0	0.00632	0	25	21		
TPRA1	131601	broad.mit.edu	37	3	127294260	127294260	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:127294260G>A	ENST00000355552.3	-	9	1135	c.759C>T	c.(757-759)atC>atT	p.I253I	TPRA1_ENST00000465915.1_5'UTR|TPRA1_ENST00000489960.1_Silent_p.I253I|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000450633.2_Silent_p.I253I	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	253					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.I253I(1)		endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCCCCTCGATGATGTCGAAGC	0.682											OREG0015772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ejl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(757-759)ATC>ATT		G protein-coupled receptor 175 isoform 1							38.0	41.0	40.0					3																	127294260		2201	4298	6499	SO:0001819	synonymous_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127294260G>A	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.759C>T	3.37:g.127294260G>A			OREG0015772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1556	TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.I253I|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Silent_p.I253I	p.I253I	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN			8	1050	-			253			Helical; Name=6; (Potential).		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Silent	SNP	ENST00000355552.3	37	c.759C>T	CCDS3042.1																																																																																				0.682	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1		NM_016372		6	22	0	0	0	0.00308	0	6	22		
COL6A6	131873	broad.mit.edu	37	3	130292969	130292969	+	Missense_Mutation	SNP	C	C	A	rs564343676		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:130292969C>A	ENST00000358511.6	+	7	3178	c.3147C>A	c.(3145-3147)caC>caA	p.H1049Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.H1049Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1049	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.H1049Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATACCTATCACCCGGAGTTTC	0.433																																						uc010htl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3145-3147)CAC>CAA		collagen type VI alpha 6 precursor							60.0	57.0	58.0					3																	130292969		1859	4102	5961	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130292969C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3147C>A	3.37:g.130292969C>A	ENSP00000351310:p.His1049Gln						p.H1049Q	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			7	3178	+			1049			Nonhelical region.|VWFA 6.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3147C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.854429	0.00066	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83250	-1.7;-1.7	5.15	2.31	0.28768	von Willebrand factor, type A (3);	1.058100	0.07403	N	0.891118	T	0.50803	0.1637	N	0.00869	-1.13	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51387	-0.8712	10	0.02654	T	1	.	4.0731	0.09891	0.0745:0.26:0.418:0.2475	.	1049	A6NMZ7	CO6A6_HUMAN	Q	1049	ENSP00000351310:H1049Q;ENSP00000399236:H1049Q	ENSP00000351310:H1049Q	H	+	3	2	COL6A6	131775659	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.345000	0.07770	0.254000	0.21573	-0.311000	0.09066	CAC		0.433	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		24	56	1	0	1.10513e-12	0.014323	1.17697e-12	24	56		
DNAJC13	23317	broad.mit.edu	37	3	132247081	132247081	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:132247081A>G	ENST00000260818.6	+	54	6678	c.6430A>G	c.(6430-6432)Att>Gtt	p.I2144V		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2144					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)		p.I2144V(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ACTCGAAGGCATTGGCCTTGA	0.418																																						uc003eor.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(6430-6432)ATT>GTT		DnaJ (Hsp40) homolog, subfamily C, member 13							85.0	92.0	90.0					3																	132247081		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132247081A>G	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6430A>G	3.37:g.132247081A>G	ENSP00000260818:p.Ile2144Val						p.I2144V	NM_015268	NP_056083	O75165	DJC13_HUMAN			54	6495	+			2144					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.6430A>G	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	1.178	-0.638970	0.03557	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.16597	2.33	5.45	-1.34	0.09143	Armadillo-like helical (1);Armadillo-type fold (1);	0.599027	0.17499	N	0.172061	T	0.09555	0.0235	N	0.22421	0.69	0.21105	N	0.999784	B	0.02656	0.0	B	0.01281	0.0	T	0.29549	-1.0008	10	0.29301	T	0.29	.	9.1412	0.36906	0.4351:0.1113:0.4535:0.0	.	2144	O75165	DJC13_HUMAN	V	2144;791	ENSP00000260818:I2144V	ENSP00000260818:I2144V	I	+	1	0	DNAJC13	133729771	0.026000	0.19158	0.995000	0.50966	0.822000	0.46500	0.070000	0.14573	-0.166000	0.10890	0.383000	0.25322	ATT		0.418	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2		NM_015268		33	78	0	0	0	0.009535	0	33	78		
SKIL	6498	broad.mit.edu	37	3	170079087	170079087	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr3:170079087C>T	ENST00000458537.3	+	1	1677	c.968C>T	c.(967-969)gCt>gTt	p.A323V	SKIL_ENST00000426052.2_Missense_Mutation_p.A303V|SKIL_ENST00000259119.4_Missense_Mutation_p.A323V|SKIL_ENST00000413427.2_Missense_Mutation_p.A323V	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	323					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.A323V(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)			TTTGAATCAGCTAAATGGCAT	0.398																																						uc003fgu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(967-969)GCT>GTT		SKI-like isoform 1							99.0	102.0	101.0					3																	170079087		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.chr3:170079087C>T	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.968C>T	3.37:g.170079087C>T	ENSP00000415243:p.Ala323Val					SKIL_uc011bps.1_Missense_Mutation_p.A303V|SKIL_uc003fgv.2_Missense_Mutation_p.A323V|SKIL_uc003fgw.2_Missense_Mutation_p.A323V	p.A323V	NM_005414	NP_005405	P12757	SKIL_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		2	1680	+	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)		323					A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	ENST00000458537.3	37	c.968C>T	CCDS33890.1	.	.	.	.	.	.	.	.	.	.	C	31	5.078595	0.94050	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.92545	-3.06;-3.06;-3.04;-3.06	5.83	5.83	0.93111	SAND domain-like (2);c-SKI Smad4-binding (1);	0.047437	0.85682	D	0.000000	D	0.96021	0.8704	M	0.76170	2.325	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	D;D	0.97110	0.941;1.0	D	0.94805	0.7974	10	0.41790	T	0.15	-11.3378	20.1789	0.98193	0.0:1.0:0.0:0.0	.	323;323	P12757-3;P12757	.;SKIL_HUMAN	V	323;303;323;323	ENSP00000259119:A323V;ENSP00000406520:A303V;ENSP00000400193:A323V;ENSP00000415243:A323V	ENSP00000259119:A323V	A	+	2	0	SKIL	171561781	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.776000	0.95493	0.644000	0.83932	GCT		0.398	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4		NM_005414		34	196	0	0	0	0.005524	0	34	196		
LETM1	3954	broad.mit.edu	37	4	1824768	1824768	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:1824768C>T	ENST00000302787.2	-	9	1719	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	475					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGCTGGATGGCCGCCTCCTCC	0.652																																						uc003gdv.2		NaN																	0				central_nervous_system(1)	1						c.(1423-1425)GCC>ACC		leucine zipper-EF-hand containing transmembrane							72.0	67.0	69.0					4																	1824768		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1824768C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1423G>A	4.37:g.1824768C>T	ENSP00000305653:p.Ala475Thr						p.A475T	NM_012318	NP_036450	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		9	1720	-			475			Mitochondrial matrix (Potential).|Potential.		B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1423G>A	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054275	0.75960	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.76343	0.3974	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72494	-0.4276	9	0.12103	T	0.63	-30.6122	17.816	0.88634	0.0:1.0:0.0:0.0	.	475	O95202	LETM1_HUMAN	T	475	.	ENSP00000305653:A475T	A	-	1	0	LETM1	1794566	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	5.642000	0.67888	2.195000	0.70347	0.491000	0.48974	GCC		0.652	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1				14	106	0	0	0	0.016723	0	14	106		
PGM2	55276	broad.mit.edu	37	4	37850207	37850207	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:37850207G>A	ENST00000381967.4	+	11	1447	c.1347G>A	c.(1345-1347)gaG>gaA	p.E449E	PGM2_ENST00000537241.1_Silent_p.E289E	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	449					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.E449E(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAAGTGCAGAGTTGGCTAGCT	0.408																																						uc011byb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1345-1347)GAG>GAA		phosphoglucomutase 2							189.0	161.0	170.0					4																	37850207		2203	4300	6503	SO:0001819	synonymous_variant	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37850207G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1347G>A	4.37:g.37850207G>A						PGM2_uc011byc.1_Silent_p.E289E	p.E449E	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			11	1420	+			449					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	ENST00000381967.4	37	c.1347G>A	CCDS3443.1																																																																																				0.408	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2		NM_018290		58	85	0	0	0	0.01441	0	58	85		
UGT2A3	79799	broad.mit.edu	37	4	69817427	69817427	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:69817427C>T	ENST00000251566.4	-	1	82	c.52G>A	c.(52-54)Gtt>Att	p.V18I	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	18					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.V18I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACAGCCAACACAGAAGAGC	0.478																																						uc003hef.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(52-54)GTT>ATT		UDP glucuronosyltransferase 2 family,							62.0	59.0	60.0					4																	69817427		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69817427C>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.52G>A	4.37:g.69817427C>T	ENSP00000251566:p.Val18Ile					UGT2A3_uc010ihp.1_RNA	p.V18I	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			1	83	-			18					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.52G>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160111	0.21454	.	.	ENSG00000135220	ENST00000251566	T	0.60299	0.2	4.4	-8.8	0.00817	.	1.409680	0.04663	N	0.409315	T	0.31009	0.0783	N	0.12961	0.28	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.15178	-1.0446	10	0.48119	T	0.1	.	2.342	0.04262	0.4949:0.1948:0.0869:0.2235	.	18	Q6UWM9	UD2A3_HUMAN	I	18	ENSP00000251566:V18I	ENSP00000251566:V18I	V	-	1	0	UGT2A3	69852016	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.123000	0.00290	-1.799000	0.01248	-0.500000	0.04577	GTT		0.478	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1		NM_024743		18	65	0	0	0	0.013726	0	18	65		
UGT2B7	7364	broad.mit.edu	37	4	69962362	69962362	+	Missense_Mutation	SNP	A	A	G	rs569411321		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:69962362A>G	ENST00000508661.1	+	1	151	c.124A>G	c.(124-126)Atc>Gtc	p.I42V	UGT2B7_ENST00000305231.7_Missense_Mutation_p.I42V|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	42					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.I42V(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TATAAAGACAATCCTGGATGA	0.418													A|||	1	0.000199681	0.0	0.0014	5008	,	,		19340	0.0		0.0	False		,,,				2504	0.0					uc003heg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(124-126)ATC>GTC		UDP glucuronosyltransferase 2B7 precursor							132.0	136.0	134.0					4																	69962362		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962362A>G	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.124A>G	4.37:g.69962362A>G	ENSP00000427659:p.Ile42Val					UGT2B7_uc010ihq.2_Missense_Mutation_p.I42V	p.I42V	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	170	+			42					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.124A>G		.	.	.	.	.	.	.	.	.	.	A	2.299	-0.360593	0.05103	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.62232	0.04;0.04	2.54	-0.285	0.12866	.	0.323242	0.20726	U	0.086818	T	0.52224	0.1721	L	0.52266	1.64	0.09310	N	1	B;B	0.21688	0.052;0.059	B;B	0.36766	0.232;0.074	T	0.44922	-0.9296	9	.	.	.	.	3.1608	0.06520	0.661:0.0:0.1325:0.2066	.	42;42	E9PBP8;P16662	.;UD2B7_HUMAN	V	42	ENSP00000304811:I42V;ENSP00000427659:I42V	.	I	+	1	0	UGT2B7	69996951	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.214000	0.09292	-0.178000	0.10672	-0.736000	0.03550	ATC		0.418	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1		NM_001074		64	141	0	0	0	0.01441	0	64	141		
HNRNPDL	9987	broad.mit.edu	37	4	83347685	83347685	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:83347685C>T	ENST00000295470.5	-	6	1298	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.G256S|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.G375S	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	375	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)	p.G375S(1)									TCATATCCGCCATAGCCACTA	0.353																																						uc003hmr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(1123-1125)GGC>AGC		heterogeneous nuclear ribonucleoprotein D-like							119.0	114.0	115.0					4																	83347685		2203	4300	6503	SO:0001583	missense	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83347685C>T	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1123G>A	4.37:g.83347685C>T	ENSP00000295470:p.Gly375Ser					HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Intron	p.G375S	NM_031372	NP_112740	O14979	HNRDL_HUMAN			6	1658	-		Hepatocellular(203;0.114)	375			Tyr-rich.|Necessary for interaction with TNPO1.|Gly-rich.		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.1123G>A	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	c	17.16	3.319894	0.60634	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	D;D	0.84873	-1.91;-1.91	5.74	5.74	0.90152	.	0.177559	0.51477	D	0.000084	T	0.75125	0.3807	N	0.25094	0.71	0.80722	D	1	P	0.39181	0.663	B	0.34452	0.183	T	0.77043	-0.2734	10	0.49607	T	0.09	.	13.487	0.61371	0.0:0.9286:0.0:0.0714	.	375	O14979	HNRDL_HUMAN	S	375	ENSP00000295470:G375S;ENSP00000422040:G375S	ENSP00000295470:G375S	G	-	1	0	HNRPDL	83566709	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.194000	0.42668	2.873000	0.98535	0.561000	0.74099	GGC		0.353	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1		NM_005463		26	75	0	0	0	0.009535	0	26	75		
MYOZ2	51778	broad.mit.edu	37	4	120107259	120107259	+	Silent	SNP	T	T	C	rs535274526		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:120107259T>C	ENST00000307128.5	+	6	912	c.699T>C	c.(697-699)aaT>aaC	p.N233N		NM_016599.4	NP_057683.1			myozenin 2									p.N233N(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GGTCCTTTAATAGGACTCCTA	0.393													T|||	1	0.000199681	0.0	0.0014	5008	,	,		15931	0.0		0.0	False		,,,				2504	0.0					uc003icp.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(697-699)AAT>AAC		myozenin 2							110.0	112.0	111.0					4																	120107259		2203	4300	6503	SO:0001819	synonymous_variant	51778						protein phosphatase 2B binding	g.chr4:120107259T>C	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.699T>C	4.37:g.120107259T>C							p.N233N	NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN			6	912	+			233						Silent	SNP	ENST00000307128.5	37	c.699T>C	CCDS3711.1																																																																																				0.393	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2				22	72	0	0	0	0.014323	0	22	72		
MYOZ2	51778	broad.mit.edu	37	4	120107338	120107338	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:120107338G>C	ENST00000307128.5	+	6	991	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q		NM_016599.4	NP_057683.1			myozenin 2									p.E260Q(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CACTGTACCAGAATCAGAAGA	0.383																																						uc003icp.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(778-780)GAA>CAA		myozenin 2							63.0	61.0	61.0					4																	120107338		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120107338G>C	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.778G>C	4.37:g.120107338G>C	ENSP00000306997:p.Glu260Gln						p.E260Q	NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN			6	991	+			260						Missense_Mutation	SNP	ENST00000307128.5	37	c.778G>C	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164106	0.78339	.	.	ENSG00000172399	ENST00000307128	T	0.75367	-0.93	5.83	5.83	0.93111	.	0.110409	0.64402	D	0.000003	D	0.88548	0.6466	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89322	0.3641	10	0.87932	D	0	-24.2177	20.1224	0.97967	0.0:0.0:1.0:0.0	.	260	Q9NPC6	MYOZ2_HUMAN	Q	260	ENSP00000306997:E260Q	ENSP00000306997:E260Q	E	+	1	0	MYOZ2	120326786	1.000000	0.71417	0.975000	0.42487	0.983000	0.72400	8.176000	0.89686	2.749000	0.94314	0.650000	0.86243	GAA		0.383	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2				14	48	0	0	0	0.020292	0	14	48		
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>GGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	p.R505G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	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;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				21	107	0	0	0	0.010504	0	21	107		
WWC2	80014	broad.mit.edu	37	4	184114848	184114848	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr4:184114848C>G	ENST00000403733.3	+	2	427	c.228C>G	c.(226-228)atC>atG	p.I76M	WWC2_ENST00000513834.1_Missense_Mutation_p.I76M|WWC2_ENST00000448232.2_Missense_Mutation_p.I76M|WWC2_ENST00000378925.3_5'UTR	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	76	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.I76M(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TCTACTACATCGATCACATCA	0.423																																						uc010irx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)	3						c.(226-228)ATC>ATG		WW and C2 domain containing 2							189.0	171.0	177.0					4																	184114848		1935	4126	6061	SO:0001583	missense	80014							g.chr4:184114848C>G	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.228C>G	4.37:g.184114848C>G	ENSP00000384222:p.Ile76Met					WWC2_uc003ivk.3_Translation_Start_Site	p.I76M	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	2	410	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	76			WW 2.		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.228C>G	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131950	0.37630	.	.	ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232	D;D;D	0.84298	-1.83;-1.83;-1.83	5.24	4.32	0.51571	WW/Rsp5/WWP (5);	.	.	.	.	D	0.88829	0.6543	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86103	0.1557	9	0.33141	T	0.24	-6.3481	11.5975	0.50981	0.0:0.872:0.0:0.128	.	76	Q6AWC2	WWC2_HUMAN	M	76	ENSP00000384222:I76M;ENSP00000425054:I76M;ENSP00000398577:I76M	ENSP00000384222:I76M	I	+	3	3	WWC2	184351842	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.966000	0.29331	2.716000	0.92895	0.650000	0.86243	ATC		0.423	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1		NM_024949		16	38	0	0	0	0.00499	0	16	38		
ZDHHC11	79844	broad.mit.edu	37	5	837498	837498	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:837498C>T	ENST00000283441.8	-	6	1265	c.882G>A	c.(880-882)atG>atA	p.M294I	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.M294I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	294						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.M294I(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTCCTTTGTCCATTTGCACGT	0.483																																						uc011cma.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)|pancreas(1)	2						c.(880-882)ATG>ATA		zinc finger, DHHC-type containing 11							304.0	287.0	293.0					5																	837498		2203	4300	6503	SO:0001583	missense	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:837498C>T	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.882G>A	5.37:g.837498C>T	ENSP00000283441:p.Met294Ile					ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	p.M294I	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		6	1266	-			294					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.882G>A	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	c	3.890	-0.024147	0.07634	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.26957	1.7;1.7	1.51	0.448	0.16614	.	2.761570	0.03647	U	0.240481	T	0.11324	0.0276	N	0.08118	0	0.09310	N	1	P	0.35139	0.486	B	0.31191	0.125	T	0.14227	-1.0480	10	0.22109	T	0.4	-18.9888	3.241	0.06780	0.0:0.6358:0.0:0.3642	.	294	Q9H8X9	ZDH11_HUMAN	I	294	ENSP00000397719:M294I;ENSP00000283441:M294I	ENSP00000283441:M294I	M	-	3	0	ZDHHC11	890498	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.762000	0.01803	0.149000	0.19098	0.383000	0.25322	ATG		0.483	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3		NM_024786		53	307	0	0	0	0.01441	0	53	307		
C5orf42	65250	broad.mit.edu	37	5	37183002	37183002	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:37183002C>T	ENST00000508244.1	-	25	5374	c.5281G>A	c.(5281-5283)Gat>Aat	p.D1761N	C5orf42_ENST00000425232.2_Missense_Mutation_p.D1761N|C5orf42_ENST00000274258.7_Missense_Mutation_p.D642N			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1761						integral component of membrane (GO:0016021)		p.D1761N(1)|p.D642N(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATACCAGAATCACAGAGTAGC	0.413																																						uc011cpa.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|breast(2)|skin(1)	7						c.(5281-5283)GAT>AAT		hypothetical protein LOC65250							112.0	106.0	108.0					5																	37183002		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37183002C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5281G>A	5.37:g.37183002C>T	ENSP00000421690:p.Asp1761Asn					C5orf42_uc011coy.1_Missense_Mutation_p.D262N|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D836N|C5orf42_uc011cpb.1_Missense_Mutation_p.D642N	p.D1761N	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		26	5512	-	all_lung(31;0.000616)		1761					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.5281G>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670631	0.88348	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.1	5.1	0.69264	.	0.379656	0.22197	N	0.063293	T	0.23210	0.0561	N	0.19112	0.55	0.30847	N	0.735	D;D	0.76494	0.999;0.999	D;D	0.68943	0.961;0.961	T	0.04467	-1.0949	10	0.24483	T	0.36	.	11.9499	0.52948	0.0:0.9204:0.0:0.0796	.	1761;642	E9PH94;Q9H799	.;CE042_HUMAN	N	1761;1761;642;809;642	ENSP00000421690:D1761N;ENSP00000389014:D1761N;ENSP00000274258:D642N;ENSP00000424223:D809N	ENSP00000274258:D642N	D	-	1	0	C5orf42	37218759	0.981000	0.34729	0.983000	0.44433	0.944000	0.59088	2.258000	0.43249	2.379000	0.81126	0.591000	0.81541	GAT		0.413	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		44	74	0	0	0	0.013114	0	44	74		
NUP155	9631	broad.mit.edu	37	5	37293028	37293028	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:37293028T>C	ENST00000231498.3	-	34	4193	c.3990A>G	c.(3988-3990)ttA>ttG	p.L1330L	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Silent_p.L1266L|NUP155_ENST00000381843.2_Silent_p.L1271L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1330					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.L1330L(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)			ATCTTATCAATAATACATGTA	0.313																																						uc003jku.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(3988-3990)TTA>TTG		nucleoporin 155kDa isoform 1							84.0	97.0	93.0					5																	37293028		2202	4291	6493	SO:0001819	synonymous_variant	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.chr5:37293028T>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	ENST00000231498.3:c.3990A>G	5.37:g.37293028T>C						NUP155_uc003jkt.1_Silent_p.L1271L|NUP155_uc010iuz.1_Silent_p.L1266L	p.L1330L	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	4108	-	all_lung(31;0.000137)		1330					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.3990A>G	CCDS3921.1																																																																																				0.313	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2		NM_153485, NM_004298		69	137	0	0	0	0.01441	0	69	137		
SKIV2L2	23517	broad.mit.edu	37	5	54649078	54649078	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:54649078A>T	ENST00000230640.5	+	14	1768	c.1514A>T	c.(1513-1515)gAt>gTt	p.D505V	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.D404V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	505	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.D505V(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CGCAAATTTGATGGGAAGGAT	0.333																																					Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1513-1515)GAT>GTT		superkiller viralicidic activity 2-like 2							81.0	86.0	84.0					5																	54649078		2203	4300	6503	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54649078A>T	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1514A>T	5.37:g.54649078A>T	ENSP00000230640:p.Asp505Val					SKIV2L2_uc011cqi.1_Missense_Mutation_p.D404V	p.D505V	NM_015360	NP_056175	P42285	SK2L2_HUMAN			14	1780	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	505			Helicase C-terminal.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1514A>T	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.670464	0.88348	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.72505	-0.66;-0.66	6.16	6.16	0.99307	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86548	0.5959	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88585	0.3139	10	0.87932	D	0	-12.2081	16.8061	0.85666	1.0:0.0:0.0:0.0	.	404;505	F5H7E2;P42285	.;SK2L2_HUMAN	V	505;404	ENSP00000230640:D505V;ENSP00000442583:D404V	ENSP00000230640:D505V	D	+	2	0	SKIV2L2	54684835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.982000	0.93471	2.367000	0.80283	0.528000	0.53228	GAT		0.333	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1				21	134	0	0	0	0.014323	0	21	134		
FAM169A	26049	broad.mit.edu	37	5	74077398	74077398	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:74077398C>A	ENST00000389156.4	-	13	1990	c.1900G>T	c.(1900-1902)Gat>Tat	p.D634Y	RNU6-1330P_ENST00000362775.1_RNA|FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Missense_Mutation_p.D574Y	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	634						membrane (GO:0016020)|nucleus (GO:0005634)		p.D634Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GAGCTGCTATCCACAGCTTTT	0.458																																						uc003kdm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1900-1902)GAT>TAT		hypothetical protein LOC26049							157.0	146.0	150.0					5																	74077398		1910	4115	6025	SO:0001583	missense	26049							g.chr5:74077398C>A		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1900G>T	5.37:g.74077398C>A	ENSP00000373808:p.Asp634Tyr					FAM169A_uc010izm.2_Missense_Mutation_p.D574Y|FAM169A_uc003kdl.2_Missense_Mutation_p.D452Y	p.D634Y	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			13	1943	-			634					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.1900G>T	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096705	0.76870	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	T	0.55760	0.5	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000003	T	0.66086	0.2754	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.977;0.999	T	0.67432	-0.5672	10	0.87932	D	0	-21.5316	20.1736	0.98170	0.0:1.0:0.0:0.0	.	574;634	D6RB01;Q9Y6X4	.;F169A_HUMAN	Y	634;574	ENSP00000373808:D634Y	ENSP00000373808:D634Y	D	-	1	0	FAM169A	74113154	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	5.359000	0.66074	2.767000	0.95098	0.557000	0.71058	GAT		0.458	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2				59	204	1	0	1.27862e-28	0.01441	1.38952e-28	59	204		
TMCO6	55374	broad.mit.edu	37	5	140024591	140024591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:140024591C>T	ENST00000394671.3	+	12	1491	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	TMCO6_ENST00000252100.6_Nonsense_Mutation_p.Q470*|MIR3655_ENST00000581765.1_RNA|NDUFA2_ENST00000510680.1_Intron|IK_ENST00000417647.2_5'Flank|TMCO6_ENST00000537378.1_Nonsense_Mutation_p.Q224*	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	464					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.Q464*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGCAGCAGTCAGGGCT	0.542																																						uc003lgl.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1390-1392)CAG>TAG		transmembrane and coiled-coil domains 6							93.0	92.0	92.0					5																	140024591		1918	4138	6056	SO:0001587	stop_gained	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140024591C>T	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1390C>T	5.37:g.140024591C>T	ENSP00000378166:p.Gln464*					TMCO6_uc003lgm.2_Nonsense_Mutation_p.Q470*|TMCO6_uc010jft.2_Nonsense_Mutation_p.Q224*|TMCO6_uc003lgn.2_Nonsense_Mutation_p.Q355*|TMCO6_uc003lgo.2_Nonsense_Mutation_p.Q224*|IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank	p.Q464*	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1491	+			464					Q9BUU0|Q9P198	Nonsense_Mutation	SNP	ENST00000394671.3	37	c.1390C>T	CCDS4233.2	.	.	.	.	.	.	.	.	.	.	C	36	5.754762	0.96890	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	.	.	.	5.71	5.71	0.89125	.	0.428535	0.21105	N	0.080095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-1.1363	16.5796	0.84711	0.0:1.0:0.0:0.0	.	.	.	.	X	464;224;470	.	ENSP00000252100:Q470X	Q	+	1	0	TMCO6	140004775	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	4.375000	0.59549	2.681000	0.91329	0.655000	0.94253	CAG		0.542	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2		NM_018502		97	144	0	0	0	0.01441	0	97	144		
PCDHAC1	56135	broad.mit.edu	37	5	140308488	140308488	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:140308488T>C	ENST00000253807.2	+	1	2011	c.2011T>C	c.(2011-2013)Tgg>Cgg	p.W671R	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.W671R|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	671					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.W671R(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGATGTCTGGGAACCAGG	0.483																																						uc003lih.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)	5						c.(2011-2013)TGG>CGG		protocadherin alpha subfamily C, 1 isoform 1							124.0	121.0	122.0					5																	140308488		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140308488T>C	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2011T>C	5.37:g.140308488T>C	ENSP00000253807:p.Trp671Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.W671R	p.W671R	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2187	+			671			Extracellular (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2011T>C	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	T	6.622	0.483200	0.12581	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.48201	0.85;0.82	5.95	5.95	0.96441	.	.	.	.	.	T	0.34861	0.0912	L	0.38175	1.15	0.22500	N	0.999043	B;B	0.14012	0.006;0.009	B;B	0.06405	0.001;0.002	T	0.19095	-1.0316	9	0.20519	T	0.43	.	7.1176	0.25424	0.0:0.0752:0.265:0.6598	.	671;671	Q9H158;Q9H158-2	PCDC1_HUMAN;.	R	671	ENSP00000386356:W671R;ENSP00000253807:W671R	ENSP00000253807:W671R	W	+	1	0	PCDHAC1	140288672	0.873000	0.30073	1.000000	0.80357	0.991000	0.79684	1.384000	0.34396	2.272000	0.75746	0.460000	0.39030	TGG		0.483	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1		NM_018898		58	241	0	0	0	0.01441	0	58	241		
CSF1R	1436	broad.mit.edu	37	5	149460456	149460456	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:149460456A>G	ENST00000286301.3	-	3	472	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	CSF1R_ENST00000543093.1_Missense_Mutation_p.Y61H	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	61	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.Y61H(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCAGAGTACAGGGTCCAG	0.612																																						uc003lrl.2		NaN																	2	Substitution - Missense(2)	p.Y61Y(2)	urinary_tract(2)	haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1)	54						c.(181-183)TAC>CAC		colony stimulating factor 1 receptor precursor	Imatinib(DB00619)|Sunitinib(DB01268)						127.0	89.0	102.0					5																	149460456		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149460456A>G	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.181T>C	5.37:g.149460456A>G	ENSP00000286301:p.Tyr61His					CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Y61H|CSF1R_uc011dce.1_Missense_Mutation_p.Y61H|CSF1R_uc011dcf.1_Missense_Mutation_p.Y61H	p.Y61H	NM_005211	NP_005202	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	376	-			61			Ig-like C2-type 1.|Extracellular (Potential).		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.181T>C	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	A	0.232	-1.020526	0.02061	.	.	ENSG00000182578	ENST00000286301;ENST00000543093	T;T	0.03094	4.05;4.05	5.46	1.61	0.23674	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.791526	0.11243	N	0.584483	T	0.01387	0.0045	N	0.01048	-1.04	0.18873	N	0.999989	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.13407	0.009;0.004;0.006	T	0.49744	-0.8907	10	0.15499	T	0.54	.	8.5153	0.33242	0.2927:0.4344:0.2729:0.0	.	61;61;61	B4DG86;B5A955;P07333	.;.;CSF1R_HUMAN	H	61	ENSP00000286301:Y61H;ENSP00000445282:Y61H	ENSP00000286301:Y61H	Y	-	1	0	CSF1R	149440649	0.044000	0.20184	0.348000	0.25681	0.028000	0.11728	0.003000	0.13083	0.079000	0.16929	-2.108000	0.00357	TAC		0.612	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2		NM_005211		15	51	0	0	0	0.004007	0	15	51		
SLC36A1	206358	broad.mit.edu	37	5	150844717	150844717	+	Missense_Mutation	SNP	G	G	A	rs201241765		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:150844717G>A	ENST00000243389.3	+	5	629	c.406G>A	c.(406-408)Gca>Aca	p.A136T	SLC36A1_ENST00000520701.1_Missense_Mutation_p.A136T|SLC36A1_ENST00000429484.2_Missense_Mutation_p.A136T|SLC36A1_ENST00000521925.1_Missense_Mutation_p.A136T	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	136					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.A136T(2)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CCGGAACCACGCACACTGGGG	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21852	0.0		0.0	False		,,,				2504	0.0				Melanoma(151;1534 1860 12947 32979 37872)	uc003luc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	skin(1)	1						c.(406-408)GCA>ACA		solute carrier family 36 member 1	Glycine(DB00145)|L-Alanine(DB00160)						116.0	110.0	112.0					5																	150844717		2203	4300	6503	SO:0001583	missense	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150844717G>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.406G>A	5.37:g.150844717G>A	ENSP00000243389:p.Ala136Thr					GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.A136T|SLC36A1_uc010jhw.1_Missense_Mutation_p.A136T	p.A136T	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	623	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	136			Cytoplasmic (Potential).		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Missense_Mutation	SNP	ENST00000243389.3	37	c.406G>A	CCDS4316.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.34	2.506421	0.44558	.	.	ENSG00000123643	ENST00000520701;ENST00000429484;ENST00000243389;ENST00000456739;ENST00000521925	T;T;T;T	0.02579	4.24;4.24;4.24;4.24	5.32	2.01	0.26516	.	0.240239	0.42821	D	0.000641	T	0.14527	0.0351	M	0.92507	3.315	0.09310	N	1	P;P	0.52577	0.698;0.954	B;P	0.54238	0.269;0.746	T	0.09037	-1.0693	10	0.66056	D	0.02	.	13.9821	0.64310	0.0:0.0:0.4307:0.5693	.	136;136	E7EW39;Q7Z2H8	.;S36A1_HUMAN	T	136	ENSP00000428140:A136T;ENSP00000395640:A136T;ENSP00000243389:A136T;ENSP00000430305:A136T	ENSP00000243389:A136T	A	+	1	0	SLC36A1	150824910	0.681000	0.27614	0.020000	0.16555	0.901000	0.52897	1.347000	0.33975	0.540000	0.28808	0.561000	0.74099	GCA		0.522	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1		NM_078483		31	84	0	0	0	0.019004	0	31	84		
NSD1	64324	broad.mit.edu	37	5	176562709	176562709	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:176562709G>A	ENST00000439151.2	+	2	650	c.605G>A	c.(604-606)gGt>gAt	p.G202D	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.G202D|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	202					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G202D(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAGAATGGTGTAAAAGTG	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NaN		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|kidney(1)	3						c.(604-606)GGT>GAT		nuclear receptor binding SET domain protein 1							133.0	128.0	130.0					5																	176562709		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176562709G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.605G>A	5.37:g.176562709G>A	ENSP00000395929:p.Gly202Asp	HNSCC(47;0.14)				NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.G202D|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.G202D|NSD1_uc003mfq.2_Missense_Mutation_p.G202D	p.G202D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	2	743	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	202					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.605G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544345	0.45280	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.93712	-3.11;-3.27	4.66	1.85	0.25348	.	0.296539	0.24282	N	0.039889	D	0.84602	0.5508	N	0.19112	0.55	0.80722	D	1	B;B;B	0.10296	0.003;0.001;0.0	B;B;B	0.11329	0.006;0.003;0.002	T	0.72912	-0.4148	10	0.36615	T	0.2	.	5.6077	0.17389	0.1818:0.1625:0.6556:0.0	.	202;202;202	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	D	202	ENSP00000395929:G202D;ENSP00000354310:G202D	ENSP00000354310:G202D	G	+	2	0	NSD1	176495315	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.007000	0.13174	0.190000	0.20209	0.462000	0.41574	GGT		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2		NM_172349		58	100	0	0	0	0.01441	0	58	100		
MGAT1	4245	broad.mit.edu	37	5	180219243	180219243	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:180219243G>T	ENST00000446023.2	-	3	1479	c.729C>A	c.(727-729)gaC>gaA	p.D243E	MGAT1_ENST00000307826.4_Missense_Mutation_p.D243E|MGAT1_ENST00000393340.3_Missense_Mutation_p.D243E|MGAT1_ENST00000333055.3_Missense_Mutation_p.D243E|MGAT1_ENST00000427865.2_Missense_Mutation_p.D243E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	243					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)	p.D243E(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTGCCGTTGTCATTCCAGG	0.642																																						uc003mmg.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(727-729)GAC>GAA		mannosyl (alpha-1,3-)-glycoprotein							51.0	51.0	51.0					5																	180219243		2200	4296	6496	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219243G>T	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.729C>A	5.37:g.180219243G>T	ENSP00000404718:p.Asp243Glu					MGAT1_uc010jlf.2_Missense_Mutation_p.D243E|MGAT1_uc010jlg.2_Missense_Mutation_p.D243E|MGAT1_uc003mmh.3_Missense_Mutation_p.D243E|MGAT1_uc010jlh.2_Missense_Mutation_p.D243E|MGAT1_uc003mmi.3_Missense_Mutation_p.D243E	p.D243E	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1224	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	243			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.729C>A	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806388	0.70682	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.94548	0.8244	M	0.87758	2.905	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.95059	0.8194	10	0.87932	D	0	-26.9587	12.6429	0.56718	0.0823:0.0:0.9177:0.0	.	243	P26572	MGAT1_HUMAN	E	243;243;243;243;100;243	ENSP00000332073:D243E;ENSP00000311888:D243E;ENSP00000404718:D243E;ENSP00000377010:D243E;ENSP00000402838:D243E	ENSP00000311888:D243E	D	-	3	2	MGAT1	180151849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.988000	0.29616	1.389000	0.46526	0.655000	0.94253	GAC		0.642	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1		NM_001114618		7	140	1	0	8.12818e-05	0.001984	8.40438e-05	7	140		
OR2V2	285659	broad.mit.edu	37	5	180581946	180581946	+	Missense_Mutation	SNP	G	G	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr5:180581946G>C	ENST00000328275.1	+	1	4	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E2Q(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGCCATGGAGACGTGGGT	0.493																																						uc011dhj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(4-6)GAG>CAG		olfactory receptor, family 2, subfamily V,							179.0	145.0	157.0					5																	180581946		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180581946G>C	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.4G>C	5.37:g.180581946G>C	ENSP00000332185:p.Glu2Gln						p.E2Q	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	4	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	2			Extracellular (Potential).		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.4G>C	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	3.560	-0.089947	0.07053	.	.	ENSG00000182613	ENST00000328275	T	0.00044	8.83	3.9	3.0	0.34707	.	1.147010	0.06807	N	0.789732	T	0.00109	0.0003	N	0.08118	0	0.20074	N	0.999934	B	0.31730	0.337	B	0.23419	0.046	T	0.19321	-1.0309	10	0.62326	D	0.03	.	7.9385	0.29944	0.1272:0.0:0.8728:0.0	.	2	Q96R30	OR2V2_HUMAN	Q	2	ENSP00000332185:E2Q	ENSP00000332185:E2Q	E	+	1	0	OR2V2	180514552	0.060000	0.20803	0.399000	0.26333	0.033000	0.12548	0.082000	0.14847	1.882000	0.54519	0.305000	0.20034	GAG		0.493	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1				72	109	0	0	0	0.01441	0	72	109		
CAP2	10486	broad.mit.edu	37	6	17539634	17539634	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:17539634T>C	ENST00000229922.2	+	8	1303	c.771T>C	c.(769-771)tcT>tcC	p.S257S	CAP2_ENST00000465994.1_Silent_p.S193S|CAP2_ENST00000378990.2_Silent_p.S231S|CAP2_ENST00000489374.1_Silent_p.S145S|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	257					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.S257S(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AGGAATCTTCTCCTTCACGCT	0.522																																						uc003ncb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(769-771)TCT>TCC		adenylyl cyclase-associated protein 2							133.0	115.0	121.0					6																	17539634		2203	4300	6503	SO:0001819	synonymous_variant	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17539634T>C	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.771T>C	6.37:g.17539634T>C						CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Silent_p.S231S|CAP2_uc011djb.1_Silent_p.S193S|CAP2_uc011djc.1_Silent_p.S145S|CAP2_uc011djd.1_Intron	p.S257S	NM_006366	NP_006357	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		8	1014	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	257					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	c.771T>C	CCDS4539.1																																																																																				0.522	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2				6	117	0	0	0	0.001168	0	6	117		
GPX6	257202	broad.mit.edu	37	6	28474199	28474199	+	Missense_Mutation	SNP	A	A	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:28474199A>C	ENST00000474923.1	-	3	292	c.249T>G	c.(247-249)aaT>aaG	p.N83K	GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000361902.1_Missense_Mutation_p.N83K			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	83					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.N83K(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	CCTGTAGTGCATTCAGTTCTG	0.443																																						uc011dlj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(247-249)AAT>AAG		glutathione peroxidase 6 precursor	Glutathione(DB00143)						74.0	80.0	78.0					6																	28474199		2084	4257	6341	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28474199A>C		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.249T>G	6.37:g.28474199A>C	ENSP00000417364:p.Asn83Lys					GPX6_uc010jrg.1_RNA	p.N83K	NM_182701	NP_874360	P59796	GPX6_HUMAN			4	299	-			83					Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37	c.249T>G		.	.	.	.	.	.	.	.	.	.	A	19.57	3.853228	0.71719	.	.	ENSG00000198704	ENST00000361902;ENST00000474923	T;T	0.03982	3.74;3.74	4.35	0.692	0.18050	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.08492	0.0211	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05037	-1.0910	10	0.72032	D	0.01	.	6.0598	0.19832	0.667:0.0:0.333:0.0	.	83	P59796	GPX6_HUMAN	K	83	ENSP00000354581:N83K;ENSP00000417364:N83K	ENSP00000354581:N83K	N	-	3	2	GPX6	28582178	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.110000	0.57831	0.112000	0.17975	0.533000	0.62120	AAT		0.443	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5				20	119	0	0	0	0.012319	0	20	119		
BTNL2	56244	broad.mit.edu	37	6	32372796	32372796	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:32372796G>A	ENST00000374993.1	-	2	346	c.347C>T	c.(346-348)cCc>cTc	p.P116L	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.P116L|BTNL2_ENST00000374995.3_Missense_Mutation_p.P116L|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Missense_Mutation_p.P116L	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	116	Ig-like V-type 1.					integral component of membrane (GO:0016021)		p.P116L(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						ATTGTCGGAGGGCTGGATGTT	0.488																																						uc003obg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(346-348)CCC>CTC		butyrophilin-like 2							313.0	269.0	285.0					6																	32372796		1511	2708	4219	SO:0001583	missense	56244					integral to membrane		g.chr6:32372796G>A	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.347C>T	6.37:g.32372796G>A	ENSP00000364132:p.Pro116Leu					BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	p.P116L	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			2	347	-			116			Ig-like V-type 1.|Extracellular (Potential).		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.347C>T		.	.	.	.	.	.	.	.	.	.	G	9.548	1.115043	0.20795	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232	T;T;T	0.63744	-0.06;2.61;-0.06	4.91	4.03	0.46877	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.159718	0.30159	N	0.010268	T	0.32315	0.0825	L	0.41027	1.25	0.09310	N	1	P	0.37061	0.58	B	0.34536	0.185	T	0.19679	-1.0298	10	0.62326	D	0.03	.	6.8271	0.23889	0.1817:0.0:0.8183:0.0	.	116	Q9UIR0	BTNL2_HUMAN	L	116	ENSP00000364134:P116L;ENSP00000364132:P116L;ENSP00000411166:P116L	ENSP00000364132:P116L	P	-	2	0	BTNL2	32480774	0.038000	0.19896	0.022000	0.16811	0.036000	0.12997	1.957000	0.40392	2.755000	0.94549	0.632000	0.83419	CCC		0.488	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_019602		36	179	0	0	0	0.021022	0	36	179		
ZBTB22	9278	broad.mit.edu	37	6	33284382	33284382	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:33284382G>A	ENST00000431845.2	-	2	463	c.312C>T	c.(310-312)gcC>gcT	p.A104A	TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.A104A|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank|DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	104	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.A104A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CAGTCTCAAAGGCGCCTGGGT	0.577																																						uc003oeb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(310-312)GCC>GCT		zinc finger and BTB domain containing 22							103.0	105.0	104.0					6																	33284382		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284382G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.312C>T	6.37:g.33284382G>A						TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.A104A	p.A104A	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	464	-			104			BTB.		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.312C>T	CCDS4775.1																																																																																				0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2				52	210	0	0	0	0.01441	0	52	210		
SLC17A5	26503	broad.mit.edu	37	6	74331540	74331540	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:74331540A>G	ENST00000355773.5	-	7	1233	c.965T>C	c.(964-966)tTc>tCc	p.F322S	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	322					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.F322S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGAACATTGAACCTTAGGAT	0.313																																						uc003phn.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(5)|central_nervous_system(1)	6						c.(964-966)TTC>TCC		sialin							39.0	40.0	40.0					6																	74331540		2203	4300	6503	SO:0001583	missense	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331540A>G	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.965T>C	6.37:g.74331540A>G	ENSP00000348019:p.Phe322Ser					SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.F191S	p.F322S	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN			7	1093	-			322					Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	ENST00000355773.5	37	c.965T>C	CCDS4981.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.204479	0.58234	.	.	ENSG00000119899	ENST00000355773	T	0.60920	0.15	5.64	5.64	0.86602	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82318	0.5011	H	0.97265	3.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88967	0.3398	10	0.87932	D	0	.	15.84	0.78837	1.0:0.0:0.0:0.0	.	384;322	E1P537;Q9NRA2	.;S17A5_HUMAN	S	322	ENSP00000348019:F322S	ENSP00000348019:F322S	F	-	2	0	SLC17A5	74388261	1.000000	0.71417	1.000000	0.80357	0.218000	0.24690	8.755000	0.91646	2.145000	0.66743	0.454000	0.30748	TTC		0.313	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1				12	36	0	0	0	0.013537	0	12	36		
SIM1	6492	broad.mit.edu	37	6	100868687	100868688	+	Nonsense_Mutation	DNP	GG	GG	TC			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:100868687_100868688GG>TC	ENST00000369208.3	-	10	1927_1928	c.1145_1146CC>GA	c.(1144-1146)tCC>tGA	p.S382*	SIM1_ENST00000262901.4_Nonsense_Mutation_p.S382*			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	382	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S382S(1)|p.S382*(1)|p.S382C(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGAAGTCCTGGATTTTGACTT	0.47																																						uc003pqj.3		NaN																	3	Substitution - Nonsense(1)|Substitution - Missense(1)|Substitution - coding silent(1)		urinary_tract(3)	ovary(4)	4						c.(1144-1146)TCC>TGA		single-minded homolog 1																																				SO:0001587	stop_gained	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868687_100868688GG>TC	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1145_1146delinsTC	6.37:g.100868687_100868688delinsTC	ENSP00000358210:p.Ser382*					SIM1_uc010kcu.2_Nonsense_Mutation_p.S382*	p.S382*	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1352_1353	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	382			Single-minded C-terminal.|Nuclear localization signal (By similarity).		Q5TDP7	Nonsense_Mutation	DNP	ENST00000369208.3	37	c.1145_1146CC>GA	CCDS5045.1																																																																																				0.470	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3		NM_005068		47	84	0	0	0	0.004672	0	47	84		
RAET1G	353091	broad.mit.edu	37	6	150240778	150240778	+	Missense_Mutation	SNP	C	C	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:150240778C>A	ENST00000367360.2	-	2	327	c.260G>T	c.(259-261)tGg>tTg	p.W87L	RAET1E-AS1_ENST00000605899.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.W87L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000446954.2_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G									p.W87L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		CTGTGCTTTCCAGGCCGTTGT	0.488																																						uc010kii.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(259-261)TGG>TTG		retinoic acid early transcript 1G precursor							254.0	244.0	248.0					6																	150240778		2203	4300	6503	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240778C>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.260G>T	6.37:g.150240778C>A	ENSP00000356329:p.Trp87Leu					RAET1G_uc003qnm.2_RNA	p.W87L	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	2	328	-		Ovarian(120;0.0907)	87			MHC class I alpha-1 like.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000367360.2	37	c.260G>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985806	0.35036	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.02369	4.32;4.32	2.4	1.49	0.22878	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.05593	0.0147	M	0.77616	2.38	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.21586	-1.0241	9	0.87932	D	0	.	6.3394	0.21314	0.294:0.706:0.0:0.0	.	87	Q6H3X3	RET1G_HUMAN	L	87	ENSP00000356329:W87L;ENSP00000417503:W87L	ENSP00000356329:W87L	W	-	2	0	RAET1G	150282471	0.046000	0.20272	0.007000	0.13788	0.021000	0.10359	0.962000	0.29280	0.556000	0.29098	-0.444000	0.05651	TGG		0.488	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2				125	181	1	0	3.36649e-63	0.01441	3.7347e-63	125	181		
ARID1B	57492	broad.mit.edu	37	6	157521944	157521944	+	Missense_Mutation	SNP	C	C	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:157521944C>G	ENST00000350026.5	+	17	4178	c.4177C>G	c.(4177-4179)Cag>Gag	p.Q1393E	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1388E|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1446E|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1406E	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1393					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.Q1406E(1)|p.Q1388E(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GATGTACAACCAGTATGGAGG	0.632																																						uc003qqn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|breast(1)	2						c.(4162-4164)CAG>GAG		AT rich interactive domain 1B (SWI1-like)							54.0	59.0	58.0					6																	157521944		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157521944C>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4177C>G	6.37:g.157521944C>G	ENSP00000055163:p.Gln1393Glu					ARID1B_uc003qqo.2_Missense_Mutation_p.Q1348E|ARID1B_uc003qqp.2_Missense_Mutation_p.Q1335E	p.Q1388E	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	18	4314	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1393					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.4162C>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401366	0.42613	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02369	4.65;4.63;4.65;4.66;4.32	4.88	4.88	0.63580	.	0.058134	0.64402	D	0.000001	T	0.05593	0.0147	M	0.62723	1.935	0.80722	D	1	P;D;D	0.55385	0.951;0.971;0.971	P;P;P	0.52386	0.501;0.697;0.697	T	0.27400	-1.0075	10	0.66056	D	0.02	.	18.414	0.90562	0.0:1.0:0.0:0.0	.	1393;1406;1388	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	E	1406;1393;1446;1388;915	ENSP00000344546:Q1406E;ENSP00000055163:Q1393E;ENSP00000356116:Q1446E;ENSP00000275248:Q1388E;ENSP00000412835:Q915E	ENSP00000275248:Q1388E	Q	+	1	0	ARID1B	157563636	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	7.445000	0.80570	2.413000	0.81919	0.655000	0.94253	CAG		0.632	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732		20	108	0	0	0	0.010504	0	20	108		
FAM126A	84668	broad.mit.edu	37	7	22985595	22985595	+	Silent	SNP	T	T	C	rs368769186		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:22985595T>C	ENST00000432176.2	-	11	1411	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E	FAM126A_ENST00000498833.1_5'Flank|FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	393					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.E393E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TAGTTTCTTTTTCTTTTCCTC	0.418																																						uc003svm.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1177-1179)GAA>GAG		family with sequence similarity 126, member A		T		0,4406		0,0,2203	118.0	127.0	124.0		1179	-3.8	1.0	7		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM126A	NM_032581.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		393/522	22985595	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985595T>C	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1179A>G	7.37:g.22985595T>C						FAM126A_uc003svn.3_3'UTR	p.E393E	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			11	1434	-			393					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	c.1179A>G	CCDS5377.1																																																																																				0.418	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1		NM_032581		113	195	0	0	0	0.01441	0	113	195		
GLI3	2737	broad.mit.edu	37	7	42004980	42004980	+	Missense_Mutation	SNP	G	G	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:42004980G>T	ENST00000395925.3	-	15	3775	c.3691C>A	c.(3691-3693)Ctc>Atc	p.L1231I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1231					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1231I(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGTTGTGGAGCATCAAGTGC	0.632									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3691-3693)CTC>ATC		GLI-Kruppel family member GLI3							67.0	74.0	72.0					7																	42004980		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004980G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3691C>A	7.37:g.42004980G>T	ENSP00000379258:p.Leu1231Ile					GLI3_uc011kbg.1_Missense_Mutation_p.L1172I	p.L1231I	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3782	-			1231					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3691C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348734	0.24426	.	.	ENSG00000106571	ENST00000395925	T	0.13538	2.58	5.59	-10.5	0.00291	.	1.859260	0.02585	N	0.099259	T	0.06325	0.0163	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26815	-1.0092	10	0.29301	T	0.29	.	11.7581	0.51886	0.0:0.3129:0.4489:0.2382	.	1231	P10071	GLI3_HUMAN	I	1231	ENSP00000379258:L1231I	ENSP00000379258:L1231I	L	-	1	0	GLI3	41971505	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.326000	0.07965	-1.305000	0.02327	-1.193000	0.01689	CTC		0.632	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		41	94	1	0	1.41504e-22	0.011902	1.52996e-22	41	94		
OGDH	4967	broad.mit.edu	37	7	44736651	44736651	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:44736651G>A	ENST00000222673.5	+	15	2081	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q	OGDH_ENST00000447398.1_Missense_Mutation_p.R691Q|OGDH_ENST00000543843.1_Missense_Mutation_p.R631Q|OGDH_ENST00000444676.1_Missense_Mutation_p.R695Q|OGDH_ENST00000439616.2_Missense_Mutation_p.R530Q|OGDH_ENST00000449767.1_Missense_Mutation_p.R676Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	680					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R680Q(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GACGTGGAGCGGGGCACATTC	0.557																																						uc003tln.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2038-2040)CGG>CAG		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						93.0	76.0	82.0					7																	44736651		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44736651G>A	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2039G>A	7.37:g.44736651G>A	ENSP00000222673:p.Arg680Gln					OGDH_uc011kbx.1_Missense_Mutation_p.R676Q|OGDH_uc011kby.1_Missense_Mutation_p.R530Q|OGDH_uc003tlp.2_Missense_Mutation_p.R691Q|OGDH_uc011kbz.1_Missense_Mutation_p.R475Q|OGDH_uc003tlo.1_Missense_Mutation_p.R513Q	p.R680Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN			15	2148	+			680					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2039G>A	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597274	0.96602	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	5.13	5.13	0.70059	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	H	0.98559	4.265	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	0.85130	0.996;0.996;0.996;0.997;0.996;0.996	D	0.99327	1.0908	10	0.87932	D	0	-24.8159	18.3765	0.90437	0.0:0.0:1.0:0.0	.	475;530;676;691;582;680	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	Q	530;676;691;695;680;631	ENSP00000398576:R530Q;ENSP00000392878:R676Q;ENSP00000388183:R691Q;ENSP00000414662:R695Q;ENSP00000222673:R680Q;ENSP00000443821:R631Q	ENSP00000222673:R680Q	R	+	2	0	OGDH	44703176	1.000000	0.71417	0.982000	0.44146	0.932000	0.56968	9.548000	0.98103	2.642000	0.89623	0.650000	0.86243	CGG		0.557	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1				17	108	0	0	0	0.007413	0	17	108		
ABCA13	154664	broad.mit.edu	37	7	48284188	48284188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:48284188G>A	ENST00000435803.1	+	11	1302	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	426					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.W426*(1)|p.W371*(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGCATCTGTGGAAATTGCAAA	0.393																																						uc003toq.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(1276-1278)TGG>TGA		ATP binding cassette, sub-family A (ABC1),							49.0	47.0	48.0					7																	48284188		1817	4075	5892	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48284188G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1278G>A	7.37:g.48284188G>A	ENSP00000411096:p.Trp426*					ABCA13_uc010kyr.2_5'UTR	p.W426*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			11	1303	+			426					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.1278G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142600	0.77888	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.05	2.9	0.33743	.	2.188540	0.02025	N	0.048069	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	3.8381	0.08903	0.1632:0.2749:0.5619:0.0	.	.	.	.	X	426	.	ENSP00000411096:W426X	W	+	3	0	ABCA13	48254734	0.037000	0.19845	0.004000	0.12327	0.458000	0.32498	0.997000	0.29731	1.072000	0.40860	0.650000	0.86243	TGG		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701		6	47	0	0	0	0.001168	0	6	47		
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092032	139092032	+	Missense_Mutation	SNP	A	A	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:139092032A>T	ENST00000354926.4	+	6	977	c.623A>T	c.(622-624)gAt>gTt	p.D208V	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205V|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207V|LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274V	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough									p.D208V(1)									CGACTGGCTGATCATTTTGGG	0.398																																						uc003vux.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(622-624)GAT>GTT		LUC7-like 2							92.0	86.0	88.0					7																	139092032		1830	4082	5912	SO:0001583	missense	51631						enzyme binding|metal ion binding	g.chr7:139092032A>T		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.623A>T	7.37:g.139092032A>T	ENSP00000347005:p.Asp208Val					LUC7L2_uc011kqs.1_Missense_Mutation_p.D205V|LUC7L2_uc011kqt.1_Missense_Mutation_p.D274V|LUC7L2_uc003vuy.2_Missense_Mutation_p.D207V|LUC7L2_uc003vuz.1_Missense_Mutation_p.D155V|LUC7L2_uc003vva.2_Missense_Mutation_p.D155V	p.D208V	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN			6	997	+	Melanoma(164;0.242)		208			C2H2-type; atypical.			Missense_Mutation	SNP	ENST00000354926.4	37	c.623A>T	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745184	0.89663	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.57907	1.53;1.53;1.53;0.37	5.84	5.84	0.93424	.	0.041720	0.85682	D	0.000000	T	0.80644	0.4662	H	0.94423	3.535	0.80722	D	1.000000	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.996	D	0.86251	0.1649	9	0.87932	D	0	-19.219	16.2087	0.82144	1.0:0.0:0.0:0.0	.	274;205;207;208	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	V	205;274;208;208;207	ENSP00000441604:D205V;ENSP00000440222:D274V;ENSP00000347005:D208V;ENSP00000263545:D207V	ENSP00000263545:D207V	D	+	2	0	LUC7L2	138742572	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	9.339000	0.96797	2.233000	0.73108	0.482000	0.46254	GAT		0.398	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2				24	108	0	0	0	0.00632	0	24	108		
AOC1	26	broad.mit.edu	37	7	150554592	150554592	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:150554592G>A	ENST00000493429.1	+	4	1618	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	AOC1_ENST00000467291.1_Missense_Mutation_p.R345H|AOC1_ENST00000360937.4_Missense_Mutation_p.R345H|AOC1_ENST00000416793.2_Missense_Mutation_p.R345H			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	345					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.R345H(1)								Amiloride(DB00594)	GGCGGAGAGCGCATTGCCTAT	0.642																																						uc003why.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|skin(2)	6						c.(1033-1035)CGC>CAC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						61.0	62.0	62.0					7																	150554592		2203	4300	6503	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150554592G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1034G>A	7.37:g.150554592G>A	ENSP00000418614:p.Arg345His					ABP1_uc003whz.1_Missense_Mutation_p.R345H|ABP1_uc003wia.1_Missense_Mutation_p.R345H	p.R345H	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	5252	+	all_neural(206;0.219)		345					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1034G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198232	0.38806	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.49	2.65	0.31530	Copper amine oxidase, C-terminal (3);	0.186939	0.45126	N	0.000393	T	0.07728	0.0194	M	0.81112	2.525	0.50313	D	0.999865	P;B	0.45348	0.856;0.098	B;B	0.39562	0.303;0.069	T	0.08743	-1.0707	10	0.62326	D	0.03	-32.3555	7.1074	0.25370	0.1416:0.0:0.7181:0.1403	.	345;345	C9J690;P19801	.;ABP1_HUMAN	H	345;345;345;345;221	ENSP00000418614:R345H;ENSP00000418328:R345H;ENSP00000354193:R345H;ENSP00000411613:R345H	ENSP00000354193:R345H	R	+	2	0	ABP1	150185525	1.000000	0.71417	0.268000	0.24571	0.312000	0.27988	4.417000	0.59822	0.349000	0.23975	0.561000	0.74099	CGC		0.642	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1		NM_001091		5	96	0	0	0	0.014758	0	5	96		
KAT6A	7994	broad.mit.edu	37	8	41794882	41794882	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:41794882T>C	ENST00000396930.3	-	17	3787	c.3244A>G	c.(3244-3246)Aga>Gga	p.R1082G	KAT6A_ENST00000265713.2_Missense_Mutation_p.R1082G|KAT6A_ENST00000406337.1_Missense_Mutation_p.R1082G	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1082					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1082G(1)									AAGTATTCTCTAGGGAAAAGT	0.428																																						uc010lxb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(3244-3246)AGA>GGA		MYST histone acetyltransferase (monocytic							140.0	134.0	136.0					8																	41794882		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41794882T>C	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3244A>G	8.37:g.41794882T>C	ENSP00000380136:p.Arg1082Gly					MYST3_uc010lxc.2_Missense_Mutation_p.R1082G|MYST3_uc003xon.3_Missense_Mutation_p.R1082G	p.R1082G	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		17	3788	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1082					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.3244A>G	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.031672	0.35797	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.62639	0.01;0.01;0.01	5.63	4.48	0.54585	.	0.209123	0.36740	N	0.002428	T	0.56717	0.2004	L	0.55481	1.735	0.31309	N	0.687314	B	0.24483	0.104	B	0.22386	0.039	T	0.61123	-0.7126	10	0.54805	T	0.06	-14.0266	11.7058	0.51597	0.0:0.0:0.2964:0.7036	.	1082	Q92794	KAT6A_HUMAN	G	1082;1082;1082;662	ENSP00000265713:R1082G;ENSP00000385888:R1082G;ENSP00000380136:R1082G	ENSP00000265713:R1082G	R	-	1	2	KAT6A	41914039	0.928000	0.31464	0.995000	0.50966	0.992000	0.81027	1.331000	0.33793	0.974000	0.38366	0.528000	0.53228	AGA		0.428	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		NM_006766		43	59	0	0	0	0.00874	0	43	59		
ATP6V1H	51606	broad.mit.edu	37	8	54745612	54745612	+	Missense_Mutation	SNP	T	T	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:54745612T>A	ENST00000359530.2	-	3	411	c.148A>T	c.(148-150)Att>Ttt	p.I50F	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.I50F|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.I10F|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.I50F	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	50					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.I50F(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			AACCTCTGAATAAACTCACAA	0.368																																						uc003xrl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(148-150)ATT>TTT		ATPase, H+ transporting, lysosomal 50/57kDa, V1							130.0	126.0	127.0					8																	54745612		2203	4300	6503	SO:0001583	missense	51606				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:54745612T>A	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.148A>T	8.37:g.54745612T>A	ENSP00000352522:p.Ile50Phe					ATP6V1H_uc003xrk.2_Missense_Mutation_p.I10F|ATP6V1H_uc003xrm.2_Missense_Mutation_p.I50F|ATP6V1H_uc003xrn.2_Missense_Mutation_p.I50F|ATP6V1H_uc011ldv.1_Intron|ATP6V1H_uc010lyd.2_Intron|ATP6V1H_uc003xro.1_Missense_Mutation_p.I47F	p.I50F	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)		3	300	-		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	50					B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	37	c.148A>T	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	t	18.74	3.687765	0.68157	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774;ENST00000520049;ENST00000520070;ENST00000521275;ENST00000524234	.	.	.	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77678	0.4166	M	0.74467	2.265	0.80722	D	1	B;D;B	0.71674	0.082;0.998;0.046	B;D;B	0.79784	0.211;0.993;0.211	T	0.79024	-0.1972	9	0.48119	T	0.1	-24.0928	13.9991	0.64421	0.0:0.0:0.0:1.0	.	50;50;50	B3KUZ7;Q9UI12-2;Q9UI12	.;.;VATH_HUMAN	F	50;10;50;50;50;30;50;50	.	ENSP00000347359:I50F	I	-	1	0	ATP6V1H	54908165	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.936000	0.75892	1.948000	0.56530	0.375000	0.23000	ATT		0.368	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1		NM_015941		79	77	0	0	0	0.01441	0	79	77		
MOS	4342	broad.mit.edu	37	8	57026488	57026488	+	Silent	SNP	C	C	T	rs554770660		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:57026488C>T	ENST00000311923.1	-	1	53	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	18					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.S18S(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGCGTCCACCGATGGGGAAA	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		15501	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(52-54)TCG>TCA		v-mos Moloney murine sarcoma viral oncogene							16.0	20.0	19.0					8																	57026488		2194	4284	6478	SO:0001819	synonymous_variant	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57026488C>T		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.54G>A	8.37:g.57026488C>T							p.S18S	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	54	-			18					Q3KPG9|Q3KPH0	Silent	SNP	ENST00000311923.1	37	c.54G>A	CCDS6164.1																																																																																				0.697	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1		NM_005372		12	35	0	0	0	0.003163	0	12	35		
TRPS1	7227	broad.mit.edu	37	8	116632282	116632282	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:116632282C>T	ENST00000220888.5	-	2	163	c.4G>A	c.(4-6)Gtc>Atc	p.V2I	TRPS1_ENST00000519674.1_Missense_Mutation_p.V2I|TRPS1_ENST00000520276.1_Missense_Mutation_p.V6I|TRPS1_ENST00000519076.1_Missense_Mutation_p.V2I|TRPS1_ENST00000395715.3_Missense_Mutation_p.V15I			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	2					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.V15I(1)|p.V2I(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTCCGGACCATATCTGCA	0.408									Langer-Giedion syndrome																													uc003ynz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(4-6)GTC>ATC		zinc finger transcription factor TRPS1							50.0	48.0	49.0					8																	116632282		1838	4087	5925	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116632282C>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.4G>A	8.37:g.116632282C>T	ENSP00000220888:p.Val2Ile					TRPS1_uc011lhy.1_Missense_Mutation_p.V6I|TRPS1_uc003yny.2_Missense_Mutation_p.V15I|TRPS1_uc010mcy.2_Missense_Mutation_p.V2I	p.V2I	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	463	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		2					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.4G>A		.	.	.	.	.	.	.	.	.	.	C	23.4	4.406523	0.83230	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.99176	-5.26;-5.23;-5.52;-5.23;0.56	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000008	D	0.98670	0.9554	L	0.27053	0.805	0.80722	D	1	P;P;D	0.61697	0.902;0.841;0.99	D;P;D	0.73380	0.927;0.846;0.98	D	0.99938	1.1375	10	0.87932	D	0	-3.4353	20.0966	0.97849	0.0:1.0:0.0:0.0	.	6;2;15	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	I	15;2;2;6;2;15;15;15	ENSP00000379065:V15I;ENSP00000220888:V2I;ENSP00000428910:V2I;ENSP00000428680:V6I;ENSP00000429174:V2I	ENSP00000220888:V2I	V	-	1	0	TRPS1	116701457	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.272000	0.78516	2.751000	0.94390	0.650000	0.86243	GTC		0.408	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3		NM_014112		14	87	0	0	0	0.020292	0	14	87		
COL22A1	169044	broad.mit.edu	37	8	139620181	139620181	+	Missense_Mutation	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:139620181G>A	ENST00000303045.6	-	57	4476	c.4030C>T	c.(4030-4032)Cct>Tct	p.P1344S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1324S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1344	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P1344S(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAACTCACAGGGGTTCCTGAA	0.532										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(4030-4032)CCT>TCT		collagen, type XXII, alpha 1							101.0	97.0	98.0					8																	139620181		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139620181G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4030C>T	8.37:g.139620181G>A	ENSP00000303153:p.Pro1344Ser	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P624S	p.P1344S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		57	4477	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1344			Pro-rich.|Gly-rich.|Collagen-like 13.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4030C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438461	0.43326	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.96587	-4.06;-4.06	5.57	5.57	0.84162	.	0.160306	0.29185	N	0.012891	D	0.96809	0.8958	L	0.51422	1.61	0.54753	D	0.999983	B;D	0.61080	0.076;0.989	B;P	0.59221	0.197;0.854	D	0.95890	0.8906	10	0.33940	T	0.23	.	18.5507	0.91063	0.0:0.0:1.0:0.0	.	1324;1344	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1344;1324;1037	ENSP00000303153:P1344S;ENSP00000387655:P1324S	ENSP00000303153:P1344S	P	-	1	0	COL22A1	139689363	1.000000	0.71417	0.025000	0.17156	0.081000	0.17604	5.253000	0.65452	2.620000	0.88729	0.563000	0.77884	CCT		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		27	68	0	0	0	0.00632	0	27	68		
KCNV2	169522	broad.mit.edu	37	9	2718088	2718088	+	Missense_Mutation	SNP	G	G	A	rs200353727		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:2718088G>A	ENST00000382082.3	+	1	587	c.349G>A	c.(349-351)Ggc>Agc	p.G117S		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	117					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGAGCTGGCCGGCTTCCCCAA	0.667													A|||	1	0.000199681	0.0	0.0	5008	,	,		13877	0.0		0.001	False		,,,				2504	0.0					uc003zho.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(349-351)GGC>AGC		potassium channel, subfamily V, member 2		A	SER/GLY	1,4391		0,1,2195	16.0	17.0	17.0		349	-6.4	0.0	9		17	1,8585		0,1,4292	yes	missense	KCNV2	NM_133497.3	56	0,2,6487	AA,AG,GG		0.0116,0.0228,0.0154	benign	117/546	2718088	2,12976	2196	4293	6489	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718088G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.349G>A	9.37:g.2718088G>A	ENSP00000371514:p.Gly117Ser						p.G117S	NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	563	+			117			Cytoplasmic (Potential).		Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.349G>A	CCDS6447.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	6.277	0.419249	0.11870	2.28E-4	1.16E-4	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.93604	-3.25	5.34	-6.39	0.01951	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.650998	0.16725	N	0.202107	T	0.74831	0.3768	N	0.01668	-0.77	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.65500	-0.6153	10	0.37606	T	0.19	.	6.5128	0.22232	0.6566:0.0615:0.1541:0.1278	.	117	Q8TDN2	KCNV2_HUMAN	S	117	ENSP00000371514:G117S	ENSP00000371514:G117S	G	+	1	0	KCNV2	2708088	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-0.541000	0.06099	-1.797000	0.01252	-1.390000	0.01156	GGC		0.667	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1		NM_133497		4	19	0	0	0	0.009096	0	4	19		
DENND4C	55667	broad.mit.edu	37	9	19296129	19296129	+	Missense_Mutation	SNP	A	A	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:19296129A>G	ENST00000380432.2	+	2	250	c.217A>G	c.(217-219)Aca>Gca	p.T73A	DENND4C_ENST00000602925.1_Missense_Mutation_p.T309A|DENND4C_ENST00000434457.2_Missense_Mutation_p.T309A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	73	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.T73A(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCATCAATACAAACAAATG	0.393																																						uc003znq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(217-219)ACA>GCA		DENN/MADD domain containing 4C							162.0	149.0	153.0					9																	19296129		1850	4093	5943	SO:0001583	missense	55667					integral to membrane		g.chr9:19296129A>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.217A>G	9.37:g.19296129A>G	ENSP00000369797:p.Thr73Ala					DENND4C_uc011lnc.1_Translation_Start_Site	p.T73A	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			2	250	+			73			DENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.217A>G		.	.	.	.	.	.	.	.	.	.	A	13.31	2.200088	0.38905	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.88	3.74	0.42951	DENN (3);	0.252242	0.39687	N	0.001282	T	0.36303	0.0962	N	0.10972	0.075	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.09930	-1.0652	9	0.34782	T	0.22	-10.3888	10.8098	0.46540	0.1473:0.0:0.0:0.8527	.	73	Q5VZ89	DEN4C_HUMAN	A	73	.	ENSP00000369802:T73A	T	+	1	0	DENND4C	19286129	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.353000	0.52247	0.872000	0.35775	-0.649000	0.03915	ACA		0.393	DENND4C-201	KNOWN	basic	protein_coding	protein_coding			NM_017925		87	169	0	0	0	0.01441	0	87	169		
GNA14	9630	broad.mit.edu	37	9	80262686	80262686	+	Silent	SNP	G	G	A			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:80262686G>A	ENST00000341700.6	-	1	537	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	8					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S8S(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TCTCCTCCGCGGACAGGCAGC	0.711																																						uc004aku.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(22-24)TCC>TCT		G alpha 14							20.0	19.0	19.0					9																	80262686		2202	4298	6500	SO:0001819	synonymous_variant	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80262686G>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.24C>T	9.37:g.80262686G>A							p.S8S	NM_004297	NP_004288	O95837	GNA14_HUMAN			1	547	-			8					B1ALW3	Silent	SNP	ENST00000341700.6	37	c.24C>T	CCDS6657.1																																																																																				0.711	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1				9	14	0	0	0	0.008291	0	9	14		
AGTPBP1	23287	broad.mit.edu	37	9	88257814	88257814	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:88257814T>C	ENST00000357081.3	-	13	1374	c.1230A>G	c.(1228-1230)caA>caG	p.Q410Q	AGTPBP1_ENST00000432218.1_Silent_p.Q248Q|AGTPBP1_ENST00000376109.3_Silent_p.Q422Q|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.Q370Q			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	410					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.Q370Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GTCCCGGTTCTTGCTGGGGTT	0.294																																						uc011ltd.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|skin(1)	7						c.(1228-1230)CAA>CAG		ATP/GTP binding protein 1							120.0	128.0	126.0					9																	88257814		2203	4298	6501	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88257814T>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1230A>G	9.37:g.88257814T>C						AGTPBP1_uc004aod.3_Silent_p.Q36Q|AGTPBP1_uc011ltc.1_Silent_p.Q308Q|AGTPBP1_uc010mqc.2_Silent_p.Q370Q|AGTPBP1_uc011lte.1_Silent_p.Q422Q	p.Q410Q	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			12	1263	-			410					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.1230A>G																																																																																					0.294	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1		NM_015239		19	78	0	0	0	0.006122	0	19	78		
KIF12	113220	broad.mit.edu	37	9	116856478	116856478	+	Silent	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:116856478T>C	ENST00000374118.3	-	10	1119	c.882A>G	c.(880-882)ctA>ctG	p.L294L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	427	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L294L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCTCATTCTCTAGCATGAACT	0.627																																						uc004bif.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(880-882)CTA>CTG		kinesin family member 12							61.0	64.0	63.0					9																	116856478		2203	4300	6503	SO:0001819	synonymous_variant	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116856478T>C	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.882A>G	9.37:g.116856478T>C						KIF12_uc004big.2_RNA	p.L294L	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN			10	1120	-			427			Potential.		Q5TBE0	Silent	SNP	ENST00000374118.3	37	c.882A>G	CCDS6801.1																																																																																				0.627	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1		NM_138424		19	90	0	0	0	0.010504	0	19	90		
PNPLA7	375775	broad.mit.edu	37	9	140444633	140444633	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:140444633T>C	ENST00000277531.4	-	1	203	c.17A>G	c.(16-18)gAt>gGt	p.D6G	PNPLA7_ENST00000406427.1_Missense_Mutation_p.D6G|MRPL41_ENST00000371443.5_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	6					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.D6G(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGGCTGTCATCTTTCTCTTC	0.547																																						uc004cnf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(16-18)GAT>GGT		patatin-like phospholipase domain containing 7							124.0	109.0	114.0					9																	140444633		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140444633T>C	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.17A>G	9.37:g.140444633T>C	ENSP00000277531:p.Asp6Gly					PNPLA7_uc010ncj.1_Missense_Mutation_p.D6G|MRPL41_uc004cnh.3_5'Flank	p.D6G	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	1	354	-	all_cancers(76;0.126)		6					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.17A>G	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	T	9.591	1.126082	0.20959	.	.	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000371450	T;T	0.61392	0.33;0.11	3.12	1.96	0.26148	.	2.187080	0.02952	N	0.141905	T	0.37156	0.0993	N	0.08118	0	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20739	-1.0266	10	0.32370	T	0.25	-3.7645	4.8861	0.13704	0.0:0.1488:0.0:0.8512	.	6;6	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	G	6	ENSP00000277531:D6G;ENSP00000384610:D6G	ENSP00000277531:D6G	D	-	2	0	PNPLA7	139564454	0.003000	0.15002	0.002000	0.10522	0.012000	0.07955	1.356000	0.34079	0.418000	0.25898	0.454000	0.30748	GAT		0.547	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		NM_152286		30	169	0	0	0	0.013726	0	30	169		
BMX	660	broad.mit.edu	37	X	15574250	15574250	+	Missense_Mutation	SNP	C	C	T			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:15574250C>T	ENST00000357607.2	+	19	2196	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	BMX_ENST00000342014.6_Missense_Mutation_p.R670W|BMX_ENST00000348343.6_Missense_Mutation_p.R670W			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	670	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in a lung large cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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.R670W(3)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGAACCACTTCGGGAAAAAGA	0.383																																						uc004cww.2		NaN																	3	Substitution - Missense(3)	p.R670W(2)	lung(2)|urinary_tract(1)	lung(3)|ovary(2)	5						c.(2008-2010)CGG>TGG		BMX non-receptor tyrosine kinase							165.0	159.0	161.0					X																	15574250		2203	4300	6503	SO:0001583	missense	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:15574250C>T	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.2008C>T	X.37:g.15574250C>T	ENSP00000350224:p.Arg670Trp					BMX_uc004cwx.3_Missense_Mutation_p.R670W|BMX_uc004cwy.3_Missense_Mutation_p.R670W	p.R670W	NM_203281	NP_975010	P51813	BMX_HUMAN			19	2196	+	Hepatocellular(33;0.183)		670		R -> W (in a lung large cell carcinoma sample; somatic mutation).	Protein kinase.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.2008C>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876967	0.72180	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.77620	-1.11;-1.11;-1.11	5.98	5.11	0.69529	Protein kinase, catalytic domain (1);	0.571037	0.15991	N	0.234799	T	0.73110	0.3545	L	0.45352	1.415	0.33273	D	0.561303	D	0.71674	0.998	P	0.46026	0.501	T	0.80547	-0.1334	10	0.62326	D	0.03	.	10.3445	0.43899	0.0:0.9054:0.0:0.0946	.	670	P51813	BMX_HUMAN	W	670	ENSP00000350224:R670W;ENSP00000308774:R670W;ENSP00000340082:R670W	ENSP00000340082:R670W	R	+	1	2	BMX	15484171	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.215000	0.42862	2.508000	0.84585	0.600000	0.82982	CGG		0.383	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1		NM_001721		56	127	0	0	0	0.01441	0	56	127		
ACE2	59272	broad.mit.edu	37	X	15599440	15599440	+	Missense_Mutation	SNP	T	T	G			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:15599440T>G	ENST00000252519.3	-	8	1076	c.974A>C	c.(973-975)cAa>cCa	p.Q325P	ACE2_ENST00000427411.1_Missense_Mutation_p.Q325P			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	325					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.Q325P(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	CCAGAATCCTTGAGTCATATT	0.478																																						uc004cxa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(973-975)CAA>CCA		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						138.0	124.0	129.0					X																	15599440		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15599440T>G	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.974A>C	X.37:g.15599440T>G	ENSP00000252519:p.Gln325Pro					ACE2_uc004cxb.2_Missense_Mutation_p.Q325P	p.Q325P	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			8	1142	-	Hepatocellular(33;0.183)		325			Extracellular (Potential).		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.974A>C	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	T	3.368	-0.129014	0.06753	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.18502	2.21;2.21	5.44	4.25	0.50352	.	0.582241	0.18365	N	0.143447	T	0.10680	0.0261	N	0.16708	0.43	0.28786	N	0.899553	B	0.02656	0.0	B	0.09377	0.004	T	0.21793	-1.0235	10	0.20519	T	0.43	-2.1254	11.7358	0.51765	0.0:0.0:0.1457:0.8543	.	325	Q9BYF1	ACE2_HUMAN	P	325	ENSP00000252519:Q325P;ENSP00000389326:Q325P	ENSP00000252519:Q325P	Q	-	2	0	ACE2	15509361	0.050000	0.20438	1.000000	0.80357	0.569000	0.35902	0.971000	0.29396	0.686000	0.31488	0.481000	0.45027	CAA		0.478	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1				115	81	0	0	0	0.01441	0	115	81		
NKRF	55922	broad.mit.edu	37	X	118723319	118723319	+	Missense_Mutation	SNP	T	T	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chrX:118723319T>C	ENST00000371527.1	-	2	2721	c.2069A>G	c.(2068-2070)aAt>aGt	p.N690S	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.N705S|NKRF_ENST00000304449.5_Missense_Mutation_p.N690S	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	690					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.N690S(1)|p.N705S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AAGATCTCAATTTGCTTGAGG	0.383																																						uc004erq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|central_nervous_system(1)	2						c.(2068-2070)AAT>AGT		transcription factor NRF							76.0	64.0	68.0					X																	118723319		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723319T>C	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.2069A>G	X.37:g.118723319T>C	ENSP00000360582:p.Asn690Ser					NKRF_uc004err.2_Missense_Mutation_p.N690S	p.N690S	NM_017544	NP_060014	O15226	NKRF_HUMAN			2	2722	-			690					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.2069A>G	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	7.786	0.710613	0.15239	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.52983	0.65;0.65;0.64	5.83	5.83	0.93111	.	0.276056	0.41605	D	0.000847	T	0.25791	0.0628	N	0.04508	-0.205	0.41641	D	0.989076	B	0.25521	0.128	B	0.22386	0.039	T	0.16482	-1.0401	10	0.15952	T	0.53	.	14.1997	0.65693	0.0:0.0:0.0:1.0	.	690	O15226	NKRF_HUMAN	S	690;690;705	ENSP00000360582:N690S;ENSP00000304803:N690S;ENSP00000442308:N705S	ENSP00000304803:N690S	N	-	2	0	NKRF	118607347	.	.	0.996000	0.52242	0.531000	0.34715	.	.	1.952000	0.56665	0.481000	0.45027	AAT		0.383	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1		NM_017544		48	25	0	0	0	0.01441	0	48	25		
EXOSC10	5394	broad.mit.edu	37	1	11141199	11141200	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:11141199_11141200insC	ENST00000376936.4	-	11	1425_1426	c.1376_1377insG	c.(1375-1377)ggcfs	p.G459fs	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.G459fs|EXOSC10_ENST00000544779.1_Frame_Shift_Ins_p.G459fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	459					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGCCCGTTGCCGCGCTCCCA	0.604																																					Colon(179;105 1987 14326 27364 29542)	uc001asa.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1375-1377)GGCfs		exosome component 10 isoform 1																																				SO:0001589	frameshift_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11141199_11141200insC	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1377dupG	1.37:g.11141201_11141201dupC	ENSP00000366135:p.Gly459fs					EXOSC10_uc001asb.2_Frame_Shift_Ins_p.G459fs|EXOSC10_uc009vmy.1_Frame_Shift_Ins_p.G459fs	p.G459fs	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	11	1426_1427	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	459					B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Ins	INS	ENST00000376936.4	37	c.1376_1377insG	CCDS30584.1																																																																																				0.604	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1		NM_001001998		20	102	NaN	NaN	NaN	NaN	NaN	20	102	---	---
XPR1	9213	broad.mit.edu	37	1	180843056	180843056	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:180843056delT	ENST00000367590.4	+	13	1984	c.1786delT	c.(1786-1788)tttfs	p.F596fs	XPR1_ENST00000367589.3_Frame_Shift_Del_p.F531fs	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	596	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGCTACTGTCTTTGCCCCACT	0.368																																						uc001goi.2		NaN																	0					0						c.(1786-1788)TTTfs		xenotropic and polytropic retrovirus receptor							114.0	99.0	104.0					1																	180843056		2203	4300	6503	SO:0001589	frameshift_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180843056delT	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.1786delT	1.37:g.180843056delT	ENSP00000356562:p.Phe596fs					XPR1_uc009wxn.2_Frame_Shift_Del_p.F531fs	p.F596fs	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			13	1978	+			596			EXS.|Cytoplasmic (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Frame_Shift_Del	DEL	ENST00000367590.4	37	c.1786delT	CCDS1340.1																																																																																				0.368	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2		NM_004736		39	51	NaN	NaN	NaN	NaN	NaN	39	51	---	---
ELF3	1999	broad.mit.edu	37	1	201982385	201982389	+	Frame_Shift_Del	DEL	AAGAG	AAGAG	-	rs137861501		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08			AAGAG	-	AAGAG	AAGAG		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr1:201982385_201982389delAAGAG	ENST00000359651.3	+	6	3956_3960	c.764_768delAAGAG	c.(763-768)aaagagfs	p.KE255fs	ELF3_ENST00000367283.3_Frame_Shift_Del_p.KE255fs|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Frame_Shift_Del_p.KE255fs					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AAGCTGAGCAAAGAGTACTGGGACT	0.644																																						uc001gxg.3		NaN																	0					0						c.(763-768)AAAGAGfs		E74-like factor 3 (ets domain transcription																																				SO:0001589	frameshift_variant	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201982385_201982389delAAGAG	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.764_768delAAGAG	1.37:g.201982385_201982389delAAGAG	ENSP00000352673:p.Lys255fs					ELF3_uc001gxi.3_Frame_Shift_Del_p.K255fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.K255fs	p.K255fs	NM_004433	NP_004424	P78545	ELF3_HUMAN			6	3956_3960	+			255_256						Frame_Shift_Del	DEL	ENST00000359651.3	37	c.764_768delAAGAG	CCDS1419.1																																																																																				0.644	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1		NM_004433		66	71	NaN	NaN	NaN	NaN	NaN	66	71	---	---
BBS10	79738	broad.mit.edu	37	12	76742124	76742126	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr12:76742124_76742126delCAT	ENST00000393262.3	-	1	96_98	c.13_15delATG	c.(13-15)atgdel	p.M5del		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	5					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAGCGGCCATAGAACTTAAC	0.611									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001syd.1		NaN																	0				ovary(1)|skin(1)	2						c.(13-15)ATGdel		Bardet-Biedl syndrome 10																																				SO:0001651	inframe_deletion	79738	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76742124_76742126delCAT	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.13_15delATG	12.37:g.76742124_76742126delCAT	ENSP00000376946:p.Met5del		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170		p.M5del	NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN			1	97_99	-			5					Q96CW2|Q9H5D2	In_Frame_Del	DEL	ENST00000393262.3	37	c.13_15delATG	CCDS9014.2																																																																																				0.611	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2		NM_024685		10	18	NaN	NaN	NaN	NaN	NaN	10	18	---	---
CDADC1	81602	broad.mit.edu	37	13	49833659	49833660	+	Splice_Site	INS	-	-	GTAA			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr13:49833659_49833660insGTAA	ENST00000251108.6	+	4	543	c.430_430insGTAA	c.(430-432)gct>GTAAgct	p.A144fs	CDADC1_ENST00000538056.1_Splice_Site_p.G144fs|CDADC1_ENST00000444959.1_Intron	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	144							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GATTGTAAATGGTAAGTGCAGA	0.426																																						uc001vcu.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.e4+1		cytidine and dCMP deaminase domain containing 1																																				SO:0001630	splice_region_variant	81602						hydrolase activity|zinc ion binding	g.chr13:49833659_49833660insGTAA	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.430+1->GTAA	13.37:g.49833660_49833663dupGTAA						CDADC1_uc001vcs.1_Splice_Site|CDADC1_uc001vct.1_Splice_Site_p.A26_splice|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Splice_Site	p.A144_splice	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	4	506	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)						Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Splice_Site	INS	ENST00000251108.6	37	c.430_splice	CCDS9415.1																																																																																				0.426	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2		NM_030911	Frame_Shift_Ins	16	156	NaN	NaN	NaN	NaN	NaN	16	156	---	---
PMFBP1	83449	broad.mit.edu	37	16	72205093	72205101	+	Splice_Site	DEL	TACCTCATC	TACCTCATC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr16:72205093_72205101delTACCTCATC	ENST00000237353.10	-	2	268_274	c.7_13delGATGAGGTA	c.(7-15)gatgaggta>ta	p.DEV3del	PMFBP1_ENST00000543746.1_5'UTR|PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000537465.1_Splice_Site_p.DEV3del	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	3						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTAGGAGCCTTACCTCATCTTTCATTTCC	0.33																																						uc002fcc.3		NaN																	0				ovary(2)	2						c.e2+1		polyamine modulated factor 1 binding protein 1																																				SO:0001630	splice_region_variant	83449							g.chr16:72205093_72205101delTACCTCATC	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.12+1GATGAGGTA>-	16.37:g.72205093_72205101delTACCTCATC						PMFBP1_uc002fcd.2_Splice_Site_p.E4_splice|PMFBP1_uc002fce.2_Splice_Site|PMFBP1_uc002fcf.2_Splice_Site	p.E4_splice	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			2	184	-		Ovarian(137;0.179)						B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Splice_Site	DEL	ENST00000237353.10	37	c.12_splice	CCDS32483.1																																																																																				0.330	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2		NM_031293	In_Frame_Del	14	179	NaN	NaN	NaN	NaN	NaN	14	179	---	---
LAMA3	3909	broad.mit.edu	37	18	21437864	21437877	+	Frame_Shift_Del	DEL	GCTTTCCTGAGTGT	GCTTTCCTGAGTGT	-	rs558309965		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:21437864_21437877delGCTTTCCTGAGTGT	ENST00000313654.9	+	33	4434_4447	c.4193_4206delGCTTTCCTGAGTGT	c.(4192-4206)cgctttcctgagtgtfs	p.RFPEC1398fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.RFPEC1398fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1398	Domain III B.|Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCA	0.519																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(4192-4206)CGCTTTCCTGAGTGTfs		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21437864_21437877delGCTTTCCTGAGTGT	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4193_4206delGCTTTCCTGAGTGT	18.37:g.21437864_21437877delGCTTTCCTGAGTGT	ENSP00000324532:p.Arg1398fs					LAMA3_uc002kur.2_Frame_Shift_Del_p.R1398fs	p.R1398fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			33	4279_4292	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1398_1402			Domain III B.|Laminin EGF-like 11.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	37	c.4193_4206delGCTTTCCTGAGTGT	CCDS42419.1																																																																																				0.519	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129		53	105	NaN	NaN	NaN	NaN	NaN	53	105	---	---
ME2	4200	broad.mit.edu	37	18	48450474	48450480	+	Frame_Shift_Del	DEL	AAAGCAA	AAAGCAA	-	rs375495091		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr18:48450474_48450480delAAAGCAA	ENST00000321341.5	+	11	1335_1341	c.1063_1069delAAAGCAA	c.(1063-1071)aaagcaaaafs	p.KAK355fs	ME2_ENST00000382927.3_Frame_Shift_Del_p.KAK355fs	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	355					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTAGGGACGGAAAGCAAAAATAGATAG	0.314																																						uc002ley.2		NaN																	0					0						c.(1063-1071)AAAGCAAAAfs		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)																																			SO:0001589	frameshift_variant	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48450474_48450480delAAAGCAA	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1063_1069delAAAGCAA	18.37:g.48450474_48450480delAAAGCAA	ENSP00000321070:p.Lys355fs					ME2_uc010dpd.2_Frame_Shift_Del_p.K355fs	p.K355fs	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	11	1319_1325	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	355_357					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Frame_Shift_Del	DEL	ENST00000321341.5	37	c.1063_1069delAAAGCAA	CCDS11948.1																																																																																				0.314	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1		NM_002396		38	60	NaN	NaN	NaN	NaN	NaN	38	60	---	---
PNPT1	87178	broad.mit.edu	37	2	55895089	55895089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr2:55895089delT	ENST00000447944.2	-	12	1067	c.981delA	c.(979-981)aaafs	p.K327fs		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	327					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTTCTGGAAATTTTTCTATAG	0.284																																						uc002rzf.2		NaN																	0					0						c.(979-981)AAAfs		polyribonucleotide nucleotidyltransferase 1							33.0	36.0	35.0					2																	55895089		2187	4283	6470	SO:0001589	frameshift_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55895089delT	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.981delA	2.37:g.55895089delT	ENSP00000400646:p.Lys327fs					PNPT1_uc002rzg.2_RNA	p.K327fs	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		12	1034	-			327					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Frame_Shift_Del	DEL	ENST00000447944.2	37	c.981delA	CCDS1856.1																																																																																				0.284	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2		NM_033109		19	65	NaN	NaN	NaN	NaN	NaN	19	65	---	---
LAMA2	3908	broad.mit.edu	37	6	129498972	129498972	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr6:129498972delC	ENST00000421865.2	+	10	1477	c.1428delC	c.(1426-1428)agcfs	p.S476fs		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	476	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGTTAGGGAGCAAAAATGAGG	0.478																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(1426-1428)AGCfs		laminin alpha 2 subunit isoform a precursor							111.0	104.0	106.0					6																	129498972		2203	4300	6503	SO:0001589	frameshift_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129498972delC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1428delC	6.37:g.129498972delC	ENSP00000400365:p.Ser476fs					LAMA2_uc003qbo.2_Frame_Shift_Del_p.S476fs	p.S476fs	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	10	1533	+			476			Laminin EGF-like 4.		Q14736|Q5VUM2|Q93022	Frame_Shift_Del	DEL	ENST00000421865.2	37	c.1428delC	CCDS5138.1																																																																																				0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				37	83	NaN	NaN	NaN	NaN	NaN	37	83	---	---
CPA2	1358	broad.mit.edu	37	7	129919306	129919318	+	Frame_Shift_Del	DEL	CTGGAGCCAGCAG	CTGGAGCCAGCAG	-	rs552705589		TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr7:129919306_129919318delCTGGAGCCAGCAG	ENST00000222481.4	+	9	846_858	c.791_803delCTGGAGCCAGCAG	c.(790-804)cctggagccagcagcfs	p.PGASS264fs		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	264					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TCCCCAGGACCTGGAGCCAGCAGCAACCCTTGC	0.502																																						uc003vpq.2		NaN																	0				ovary(1)	1						c.(790-804)CCTGGAGCCAGCAGCfs		carboxypeptidase A2 (pancreatic) precursor																																				SO:0001589	frameshift_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129919306_129919318delCTGGAGCCAGCAG	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.791_803delCTGGAGCCAGCAG	7.37:g.129919306_129919318delCTGGAGCCAGCAG	ENSP00000222481:p.Pro264fs						p.P264fs	NM_001869	NP_001860	P48052	CBPA2_HUMAN			9	810_822	+	Melanoma(18;0.0435)		264_268					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Frame_Shift_Del	DEL	ENST00000222481.4	37	c.791_803delCTGGAGCCAGCAG	CCDS5817.2																																																																																				0.502	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2		NM_001869		7	84	NaN	NaN	NaN	NaN	NaN	7	84	---	---
IMPAD1	54928	broad.mit.edu	37	8	57905985	57906000	+	Frame_Shift_Del	DEL	CCGCGGGCCCCGCCGC	CCGCGGGCCCCGCCGC	-			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr8:57905985_57906000delCCGCGGGCCCCGCCGC	ENST00000262644.4	-	1	403_418	c.145_160delGCGGCGGGGCCCGCGG	c.(145-162)gcggcggggcccgcggccfs	p.AAGPAA49fs		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	49					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)	p.A53A(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				TcggccgcggccgcgggccccgccgcgccgccgccA	0.745																																						uc003xte.3		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(145-162)GCGGCGGGGCCCGCGGCCfs		inositol monophosphatase domain containing 1																																				SO:0001589	frameshift_variant	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57905985_57906000delCCGCGGGCCCCGCCGC		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.145_160delGCGGCGGGGCCCGCGG	8.37:g.57905985_57906000delCCGCGGGCCCCGCCGC	ENSP00000262644:p.Ala49fs						p.A49fs	NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN			1	428_443	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	49_54			Poly-Ala.		Q6NVY7	Frame_Shift_Del	DEL	ENST00000262644.4	37	c.145_160delGCGGCGGGGCCCGCGG	CCDS6169.1																																																																																				0.745	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1		NM_017813		5	9	NaN	NaN	NaN	NaN	NaN	5	9	---	---
RALGDS	5900	broad.mit.edu	37	9	135977871	135977872	+	Frame_Shift_Ins	INS	-	-	CGCT			TCGA-CU-A0YR-01A-12D-A10S-08	TCGA-CU-A0YR-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31382822-3792-47bc-99e8-8a1ee1e4e58b	27561a6d-8637-4937-ade5-e4e02bf79fec	g.chr9:135977871_135977872insCGCT	ENST00000372050.3	-	14	2021_2022	c.2000_2001insAGCG	c.(1999-2001)cgcfs	p.-667fs	RALGDS_ENST00000393157.3_Frame_Shift_Ins_p.-666fs|RALGDS_ENST00000542690.1_Frame_Shift_Ins_p.-738fs|RALGDS_ENST00000372062.3_Frame_Shift_Ins_p.-638fs|RALGDS_ENST00000393160.3_Frame_Shift_Ins_p.-612fs|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Frame_Shift_Ins_p.-655fs	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator						neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCGCTCCAGCGCTTGACAAT	0.629			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	uc004cco.2		NaN		Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		PMBL|Hodgkin Lymphona|		0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1999-2001)CGCfs		ral guanine nucleotide dissociation stimulator																																				SO:0001589	frameshift_variant	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135977871_135977872insCGCT	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1997_2000dupAGCG	9.37:g.135977872_135977875dupCGCT	ENSP00000361120:p.Arg667fs					RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Frame_Shift_Ins_p.R655fs|RALGDS_uc004ccr.2_Frame_Shift_Ins_p.R666fs|RALGDS_uc011mcv.1_Frame_Shift_Ins_p.R638fs|RALGDS_uc004ccs.2_Frame_Shift_Ins_p.R612fs|RALGDS_uc011mcw.1_Frame_Shift_Ins_p.R738fs|RALGDS_uc004ccv.1_Frame_Shift_Ins_p.R436fs|RALGDS_uc004ccu.1_Frame_Shift_Ins_p.R436fs	p.R667fs	NM_006266	NP_006257	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	14	2020_2021	-			667					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Frame_Shift_Ins	INS	ENST00000372050.3	37	c.2000_2001insAGCG	CCDS6959.1																																																																																				0.629	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1		NM_006266		19	155	NaN	NaN	NaN	NaN	NaN	19	155	---	---
