#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_ACHILLES_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_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_method	validation_status	validation_tumor_sample
PRAMEF12	390999	broad.mit.edu	37	1	12835749	12835749	+	Silent	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:12835749T>C	ENST00000357726.4	+	2	378	c.351T>C	c.(349-351)tcT>tcC	p.S117S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	117					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.S117S(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)		GCATATGGTCTGGAGCTTCTG	0.542																																							uc001aui.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(349-351)TCT>TCC		PRAME family member 12							138.0	157.0	150.0					1																	12835749		2165	4290	6455	SO:0001819	synonymous_variant	390999							g.chr1:12835749T>C		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.351T>C	1.37:g.12835749T>C							p.S117S	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	378	+	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)	117						Silent	SNP	ENST00000357726.4	37	c.351T>C	CCDS41254.1																																																																																				0.542	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		15	174	0	0	0	0.00499	0	15	174				
CCDC24	149473	broad.mit.edu	37	1	44461327	44461327	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:44461327G>A	ENST00000372318.3	+	7	778	c.607G>A	c.(607-609)Gag>Aag	p.E203K	SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_3'UTR	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	203								p.E203K(1)		endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCAGCCCTGGAGCCCACCCT	0.647																																							uc001clj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(607-609)GAG>AAG		coiled-coil domain containing 24							24.0	27.0	26.0					1																	44461327		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44461327G>A		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.607G>A	1.37:g.44461327G>A	ENSP00000361392:p.Glu203Lys					SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.E158K|CCDC24_uc009vxc.2_Missense_Mutation_p.E167K	p.E203K	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN			7	778	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	203			Potential.		Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.607G>A	CCDS507.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325145	0.41197	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.03	3.13	0.36017	.	0.263863	0.28307	N	0.015823	T	0.49779	0.1577	L	0.53249	1.67	0.36642	D	0.876904	B;B	0.32829	0.386;0.194	B;B	0.34242	0.178;0.045	T	0.55127	-0.8189	9	0.59425	D	0.04	-6.2743	7.3632	0.26758	0.2078:0.0:0.7922:0.0	.	167;203	Q8N4L8-2;Q8N4L8	.;CCD24_HUMAN	K	203	.	ENSP00000361392:E203K	E	+	1	0	CCDC24	44233914	0.709000	0.27886	0.437000	0.26809	0.605000	0.37080	3.597000	0.54031	0.608000	0.30000	-0.346000	0.07831	GAG		0.647	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		5	6	0	0	0	0.000602	0	5	6				
CYP4Z1	199974	broad.mit.edu	37	1	47548004	47548004	+	Splice_Site	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:47548004A>C	ENST00000334194.3	+	4	367		c.e4-1			NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.?(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCATTTCATAAGGTCGAGGAC	0.448																																							uc001cqu.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e4-2		cytochrome P450 4Z1							46.0	43.0	44.0					1																	47548004		2203	4300	6503	SO:0001630	splice_region_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47548004A>C	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.365-1A>C	1.37:g.47548004A>C							p.G122_splice	NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN			4	368	+								Q5VVE4	Splice_Site	SNP	ENST00000334194.3	37	c.365_splice	CCDS545.1	.	.	.	.	.	.	.	.	.	.	-	20.8	4.045484	0.75846	.	.	ENSG00000186160	ENST00000334194	.	.	.	2.28	2.28	0.28536	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4406	0.38666	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP4Z1	47320591	1.000000	0.71417	0.147000	0.22382	0.953000	0.61014	4.866000	0.63005	1.094000	0.41399	0.351000	0.21866	.		0.448	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134	Intron	10	35	0	0	0	0.000978	0	10	35				
TTLL7	79739	broad.mit.edu	37	1	84415658	84415658	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:84415658T>C	ENST00000260505.8	-	4	546	c.169A>G	c.(169-171)Ata>Gta	p.I57V	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	57	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.I57V(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATTTCATCTATTACTAAACGA	0.308																																							uc001djc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)ATA>GTA		tubulin tyrosine ligase-like family, member 7							77.0	77.0	77.0					1																	84415658		2202	4298	6500	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84415658T>C	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.169A>G	1.37:g.84415658T>C	ENSP00000260505:p.Ile57Val					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_RNA	p.I57V	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	4	565	-			57			TTL.		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.169A>G	CCDS690.2	.	.	.	.	.	.	.	.	.	.	T	13.96	2.392032	0.42410	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.03717	3.83	5.26	5.26	0.73747	.	0.047463	0.85682	D	0.000000	T	0.00998	0.0033	N	0.04787	-0.16	0.48632	D	0.999687	B	0.23806	0.091	B	0.20184	0.028	T	0.57665	-0.7772	10	0.26408	T	0.33	.	15.178	0.72931	0.0:0.0:0.0:1.0	.	57	Q6ZT98	TTLL7_HUMAN	V	57	ENSP00000260505:I57V	ENSP00000260505:I57V	I	-	1	0	TTLL7	84188246	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.579000	0.82511	1.977000	0.57605	0.533000	0.62120	ATA		0.308	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		12	18	0	0	0	0.000978	0	12	18				
HRNR	388697	broad.mit.edu	37	1	152187828	152187828	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:152187828T>C	ENST00000368801.2	-	3	6352	c.6277A>G	c.(6277-6279)Agc>Ggc	p.S2093G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2093					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2093G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCACTGCTGGAAGACCGA	0.617																																							uc001ezt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(6277-6279)AGC>GGC		hornerin							24.0	13.0	17.0					1																	152187828		2179	4271	6450	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187828T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6277A>G	1.37:g.152187828T>C	ENSP00000357791:p.Ser2093Gly						p.S2093G	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6353	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2093			23.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6277A>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	7.590	0.670484	0.14776	.	.	ENSG00000197915	ENST00000368801	T	0.01902	4.57	4.07	-3.05	0.05396	.	.	.	.	.	T	0.00496	0.0016	N	0.13098	0.295	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.38457	-0.9660	9	0.21014	T	0.42	.	11.0459	0.47859	0.0:0.6018:0.0:0.3982	.	2093	Q86YZ3	HORN_HUMAN	G	2093	ENSP00000357791:S2093G	ENSP00000357791:S2093G	S	-	1	0	HRNR	150454452	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.695000	0.05105	-0.323000	0.08544	AGC		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		14	44	0	0	0	0.008871	0	14	44				
CD5L	922	broad.mit.edu	37	1	157805885	157805885	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:157805885A>C	ENST00000368174.4	-	3	212	c.116T>G	c.(115-117)gTg>gGg	p.V39G	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	39	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.V39G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCTGTTCCACCTCCACCCG	0.637																																							uc001frk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)GTG>GGG		CD5 molecule-like precursor							77.0	75.0	76.0					1																	157805885		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805885A>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.116T>G	1.37:g.157805885A>C	ENSP00000357156:p.Val39Gly						p.V39G	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	259	-	all_hematologic(112;0.0378)		39			SRCR 1.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.116T>G	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975815	0.53720	.	.	ENSG00000073754	ENST00000368174	T	0.49720	0.77	4.85	4.85	0.62838	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.706038	0.11890	N	0.519676	T	0.77579	0.4151	H	0.98849	4.35	0.53005	D	0.999968	D	0.89917	1.0	D	0.81914	0.995	D	0.83406	0.0025	10	0.87932	D	0	.	12.4384	0.55612	1.0:0.0:0.0:0.0	.	39	O43866	CD5L_HUMAN	G	39	ENSP00000357156:V39G	ENSP00000357156:V39G	V	-	2	0	CD5L	156072509	0.947000	0.32204	0.080000	0.20451	0.047000	0.14425	8.650000	0.91073	2.025000	0.59659	0.460000	0.39030	GTG		0.637	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		10	104	0	0	0	0.002299	0	10	104				
ATP1A4	480	broad.mit.edu	37	1	160124926	160124926	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:160124926T>G	ENST00000368081.4	+	3	770	c.299T>G	c.(298-300)tTc>tGc	p.F100C		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	100					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.F100C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGTCAAATTCTGTAAGCAA	0.522																																							uc001fve.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(298-300)TTC>TGC		Na+/K+ -ATPase alpha 4 subunit isoform 1							100.0	98.0	99.0					1																	160124926		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160124926T>G	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.299T>G	1.37:g.160124926T>G	ENSP00000357060:p.Phe100Cys					ATP1A4_uc001fvf.3_RNA	p.F100C	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	778	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		100			Helical; (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.299T>G	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166343	0.78339	.	.	ENSG00000132681	ENST00000368081	D	0.82167	-1.58	4.48	4.48	0.54585	ATPase, P-type cation-transporter, N-terminal (2);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.057342	0.64402	D	0.000001	D	0.92593	0.7647	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94309	0.7544	10	0.87932	D	0	.	11.7783	0.51999	0.0:0.0:0.0:1.0	.	100	Q13733	AT1A4_HUMAN	C	100	ENSP00000357060:F100C	ENSP00000357060:F100C	F	+	2	0	ATP1A4	158391550	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.825000	0.86693	1.874000	0.54306	0.533000	0.62120	TTC		0.522	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		19	85	0	0	0	0.008871	0	19	85				
NCSTN	23385	broad.mit.edu	37	1	160318908	160318908	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:160318908A>G	ENST00000294785.5	+	3	435	c.310A>G	c.(310-312)Acc>Gcc	p.T104A	NCSTN_ENST00000392212.4_Missense_Mutation_p.T84A|NCSTN_ENST00000368065.4_5'Flank|NCSTN_ENST00000535857.1_Missense_Mutation_p.T104A|NCSTN_ENST00000368063.1_Missense_Mutation_p.T84A	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	104					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.T104A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGCATTTTACCAGGTAAGA	0.473																																							uc001fvx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(310-312)ACC>GCC		nicastrin precursor							84.0	79.0	81.0					1																	160318908		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160318908A>G	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.310A>G	1.37:g.160318908A>G	ENSP00000294785:p.Thr104Ala					NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Missense_Mutation_p.T84A|NCSTN_uc010pjf.1_Missense_Mutation_p.T104A|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank	p.T104A	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	434	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		104			Extracellular (Potential).		Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.310A>G	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.168319	0.38315	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-0.2;-0.18;-0.19;-0.16;-1.19	5.08	5.08	0.68730	.	0.131006	0.50627	D	0.000104	T	0.71913	0.3396	M	0.67700	2.07	0.80722	D	1	P;P;P	0.51449	0.827;0.945;0.717	B;P;B	0.47430	0.442;0.547;0.269	T	0.74847	-0.3525	10	0.44086	T	0.13	-5.7989	12.2431	0.54555	1.0:0.0:0.0:0.0	.	104;84;104	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	A	104;84;104;104;104;137;84	ENSP00000294785:T104A;ENSP00000357042:T84A;ENSP00000415442:T104A;ENSP00000390409:T104A;ENSP00000442605:T104A;ENSP00000389370:T137A;ENSP00000376047:T84A	ENSP00000294785:T104A	T	+	1	0	NCSTN	158585532	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	6.195000	0.72088	1.910000	0.55303	0.533000	0.62120	ACC		0.473	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		11	53	0	0	0	0.000978	0	11	53				
C1orf112	55732	broad.mit.edu	37	1	169816858	169816858	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:169816858A>G	ENST00000286031.6	+	20	2672	c.1972A>G	c.(1972-1974)Aaa>Gaa	p.K658E	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.K658E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	658								p.K658E(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCGCTACTTAAATTAGAGCT	0.353																																							uc001ggp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1972-1974)AAA>GAA		hypothetical protein LOC55732							204.0	191.0	195.0					1																	169816858		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169816858A>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1972A>G	1.37:g.169816858A>G	ENSP00000286031:p.Lys658Glu					C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.K658E|C1orf112_uc009wvt.2_Missense_Mutation_p.K335E|C1orf112_uc009wvu.1_Missense_Mutation_p.K534E|C1orf112_uc001ggr.2_Missense_Mutation_p.K523E|C1orf112_uc010plv.1_Missense_Mutation_p.K600E	p.K658E	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN			21	2282	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		658					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.1972A>G	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843585	0.32606	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.44881	0.91;0.91	5.76	-1.08	0.09936	.	0.490113	0.24722	N	0.036128	T	0.19208	0.0461	M	0.67953	2.075	0.28436	N	0.917027	B;B	0.28233	0.204;0.204	B;B	0.31101	0.124;0.124	T	0.20505	-1.0273	10	0.54805	T	0.06	-2.8532	7.0525	0.25081	0.3537:0.494:0.1523:0.0	.	600;658	B4DGF2;Q9NSG2	.;CA112_HUMAN	E	658	ENSP00000352276:K658E;ENSP00000286031:K658E	ENSP00000286031:K658E	K	+	1	0	C1orf112	168083482	0.187000	0.23238	0.014000	0.15608	0.666000	0.39218	0.674000	0.25218	-0.124000	0.11724	0.533000	0.62120	AAA		0.353	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		13	284	0	0	0	0.00245	0	13	284				
KIFAP3	22920	broad.mit.edu	37	1	170003573	170003573	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:170003573C>T	ENST00000361580.2	-	7	909	c.682G>A	c.(682-684)Gat>Aat	p.D228N	KIFAP3_ENST00000367767.1_Missense_Mutation_p.D184N|KIFAP3_ENST00000538366.1_Missense_Mutation_p.D150N|KIFAP3_ENST00000490550.1_5'Flank|KIFAP3_ENST00000367765.1_Missense_Mutation_p.D188N	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	228					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.D228N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACTCATGATCAATAATATTC	0.303																																							uc001ggv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(682-684)GAT>AAT		kinesin-associated protein 3							86.0	85.0	86.0					1																	170003573		2202	4300	6502	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170003573C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.682G>A	1.37:g.170003573C>T	ENSP00000354560:p.Asp228Asn					KIFAP3_uc010ply.1_Missense_Mutation_p.D150N|KIFAP3_uc001ggw.1_Missense_Mutation_p.D184N	p.D228N	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			7	953	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		228					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.682G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512081	0.85389	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.43	5.43	0.79202	.	0.091236	0.85682	D	0.000000	T	0.45518	0.1346	L	0.55213	1.73	0.80722	D	1	P;P;P	0.47484	0.896;0.684;0.458	P;B;B	0.48952	0.596;0.346;0.264	T	0.26360	-1.0105	9	.	.	.	-25.5371	19.2008	0.93711	0.0:1.0:0.0:0.0	.	150;184;228	B7Z8A3;B1AKU5;Q92845	.;.;KIFA3_HUMAN	N	228;188;184;150	ENSP00000354560:D228N;ENSP00000356739:D188N;ENSP00000356741:D184N;ENSP00000444622:D150N	.	D	-	1	0	KIFAP3	168270197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.356000	0.79445	2.722000	0.93159	0.655000	0.94253	GAT		0.303	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		19	82	0	0	0	0.008871	0	19	82				
CR2	1380	broad.mit.edu	37	1	207642160	207642160	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:207642160C>T	ENST00000367058.3	+	4	839	c.650C>T	c.(649-651)tCt>tTt	p.S217F	CR2_ENST00000367057.3_Missense_Mutation_p.S217F|CR2_ENST00000458541.2_Missense_Mutation_p.S217F|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.S217F	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	217	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.S217F(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CGCTGTAAATCTCTAGGACGA	0.408																																							uc001hfw.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(649-651)TCT>TTT		complement component (3d/Epstein Barr virus)							100.0	94.0	96.0					1																	207642160		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207642160C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.650C>T	1.37:g.207642160C>T	ENSP00000356025:p.Ser217Phe					CR2_uc001hfv.2_Missense_Mutation_p.S217F|CR2_uc009xch.2_Missense_Mutation_p.S217F|CR2_uc009xci.1_5'Flank	p.S217F	NM_001877	NP_001868	P20023	CR2_HUMAN			4	744	+			217			Sushi 4.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.650C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	9.370	1.070366	0.20147	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.5	1.49	0.22878	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.13543	0.0328	N	0.04355	-0.22	0.09310	N	1	B;B;P	0.39094	0.281;0.37;0.659	B;P;B	0.44561	0.389;0.453;0.382	T	0.13953	-1.0490	9	0.52906	T	0.07	.	3.6089	0.08053	0.3022:0.4699:0.1462:0.0817	.	217;217;217	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	F	217	ENSP00000356025:S217F;ENSP00000356024:S217F;ENSP00000356026:S217F;ENSP00000404222:S217F	ENSP00000356024:S217F	S	+	2	0	CR2	205708783	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	0.212000	0.17497	0.025000	0.15241	-0.251000	0.11542	TCT		0.408	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		26	101	0	0	0	0.004656	0	26	101				
ADCK3	56997	broad.mit.edu	37	1	227169734	227169734	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:227169734A>C	ENST00000366779.1	+	11	3508	c.737A>C	c.(736-738)aAg>aCg	p.K246T	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000458507.2_5'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.K194T|ADCK3_ENST00000366777.3_Missense_Mutation_p.K246T			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	246					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K246T(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						ACAGGGAAGAAGGCCGTGCTG	0.652																																							uc001hqm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(736-738)AAG>ACG		chaperone, ABC1 activity of bc1 complex like							46.0	46.0	46.0					1																	227169734		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227169734A>C	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.737A>C	1.37:g.227169734A>C	ENSP00000355741:p.Lys246Thr					CABC1_uc001hqn.1_Missense_Mutation_p.K246T|CABC1_uc009xeq.1_Missense_Mutation_p.K194T|CABC1_uc010pvq.1_5'UTR|CABC1_uc010pvr.1_5'UTR|CABC1_uc001hqo.1_5'UTR|CABC1_uc009xer.1_5'Flank	p.K246T	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			11	4156	+		Prostate(94;0.0771)	246					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.737A>C	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.438605	0.43326	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000366775;ENST00000405743	T;T;T;T;T	0.75154	-0.78;-0.76;-0.78;-0.91;-0.9	5.1	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	L	0.36672	1.1	0.80722	D	1	B	0.28998	0.23	B	0.24269	0.052	T	0.52162	-0.8612	10	0.19147	T	0.46	-25.8996	10.5447	0.45054	0.9233:0.0:0.0767:0.0	.	246	Q8NI60	ADCK3_HUMAN	T	246;194;246;171;91;197	ENSP00000355741:K246T;ENSP00000355740:K194T;ENSP00000355739:K246T;ENSP00000355738:K171T;ENSP00000355737:K91T	ENSP00000355737:K91T	K	+	2	0	ADCK3	225236357	1.000000	0.71417	0.975000	0.42487	0.341000	0.28922	5.221000	0.65272	0.795000	0.33922	0.402000	0.26972	AAG		0.652	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		5	49	0	0	0	0.001168	0	5	49				
CDC42BPA	8476	broad.mit.edu	37	1	227223259	227223259	+	Silent	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:227223259A>C	ENST00000366769.3	-	24	4435	c.3144T>G	c.(3142-3144)acT>acG	p.T1048T	CDC42BPA_ENST00000366767.3_Silent_p.T967T|CDC42BPA_ENST00000366764.2_Silent_p.T1020T|CDC42BPA_ENST00000535525.1_Silent_p.T1028T|CDC42BPA_ENST00000334218.5_Silent_p.T1048T|CDC42BPA_ENST00000366766.2_Silent_p.T1083T|CDC42BPA_ENST00000366765.3_Silent_p.T1061T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.T1083T(1)|p.T1048T(1)|p.T967T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAACTGGACAAGTGGTTGGAG	0.378																																							uc001hqr.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(3142-3144)ACT>ACG		CDC42-binding protein kinase alpha isoform B							101.0	101.0	101.0					1																	227223259		2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227223259A>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3144T>G	1.37:g.227223259A>C						CDC42BPA_uc001hqq.2_Silent_p.T347T|CDC42BPA_uc001hqs.2_Silent_p.T967T|CDC42BPA_uc009xes.2_Silent_p.T1020T|CDC42BPA_uc010pvs.1_Silent_p.T1028T|CDC42BPA_uc001hqp.2_Silent_p.T204T|CDC42BPA_uc001hqt.2_5'Flank|CDC42BPA_uc001hqu.1_Silent_p.T255T	p.T1048T	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			24	4087	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1061			Phorbol-ester/DAG-type.			Silent	SNP	ENST00000366769.3	37	c.3144T>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	A	8.857	0.946025	0.18356	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725	.	.	.	5.8	-1.07	0.09968	.	.	.	.	.	T	0.42337	0.1198	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	.	2.8802	0.05645	0.2581:0.4299:0.1198:0.1922	.	.	.	.	V	251;377;273	.	.	L	-	1	2	CDC42BPA	225289882	0.015000	0.18098	0.038000	0.18304	0.981000	0.71138	-0.571000	0.05889	-0.455000	0.07054	0.528000	0.53228	TTG		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		6	127	0	0	0	0.00308	0	6	127				
HEATR1	55127	broad.mit.edu	37	1	236737633	236737633	+	Splice_Site	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:236737633T>C	ENST00000366582.3	-	24	3442	c.3328A>G	c.(3328-3330)Att>Gtt	p.I1110V	HEATR1_ENST00000366581.2_Splice_Site_p.I1029V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1110					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.I1110V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTTTTGTAATCTAGAGGGGG	0.318																																							uc001hyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3328-3330)ATT>GTT		protein BAP28							61.0	65.0	64.0					1																	236737633		2203	4300	6503	SO:0001630	splice_region_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236737633T>C	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3328-1A>G	1.37:g.236737633T>C						HEATR1_uc009xgh.1_Missense_Mutation_p.I272V	p.I1110V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		24	3453	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1110					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.3328A>G	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792113	0.50102	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.24908	1.83;1.83	5.63	5.63	0.86233	Armadillo-type fold (1);	0.047133	0.85682	D	0.000000	T	0.27098	0.0664	M	0.68952	2.095	0.80722	D	1	P;B	0.37141	0.584;0.257	B;B	0.38194	0.267;0.077	T	0.04915	-1.0918	10	0.13853	T	0.58	.	10.9733	0.47450	0.0:0.0724:0.0:0.9276	.	1029;1110	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	V	1110;1029	ENSP00000355541:I1110V;ENSP00000355540:I1029V	ENSP00000355540:I1029V	I	-	1	0	HEATR1	234804256	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.545000	0.60698	2.142000	0.66516	0.533000	0.62120	ATT		0.318	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853	Missense_Mutation	80	56	0	0	0	0.00361	0	80	56				
ZMYND11	10771	broad.mit.edu	37	10	255922	255922	+	Silent	SNP	A	A	T	rs138135446	byFrequency	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:255922A>T	ENST00000397962.3	+	3	638	c.210A>T	c.(208-210)acA>acT	p.T70T	ZMYND11_ENST00000381607.4_Silent_p.T30T|ZMYND11_ENST00000509513.2_Silent_p.T70T|ZMYND11_ENST00000309776.4_Silent_p.T30T|ZMYND11_ENST00000381591.1_Silent_p.T70T|ZMYND11_ENST00000397959.3_Silent_p.T70T|ZMYND11_ENST00000402736.1_Silent_p.T70T|ZMYND11_ENST00000545619.1_Silent_p.T30T|ZMYND11_ENST00000381584.1_Silent_p.T53T|ZMYND11_ENST00000558098.2_Silent_p.T70T|ZMYND11_ENST00000381602.4_Silent_p.T30T|ZMYND11_ENST00000602682.1_Silent_p.T70T|ZMYND11_ENST00000403354.1_Silent_p.T70T|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000381604.4_Silent_p.T30T			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	70					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|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)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T70T(2)|p.T30T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAACTCTAACAGTGGGCTGCA	0.418																																							uc010pzt.1		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(208-210)ACA>ACT		zinc finger, MYND domain containing 11 isoform							155.0	150.0	151.0					10																	255922		2203	4300	6503	SO:0001819	synonymous_variant	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:255922A>T	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.210A>T	10.37:g.255922A>T						ZMYND11_uc001ifk.2_Silent_p.T70T|ZMYND11_uc010pzu.1_Silent_p.T70T|ZMYND11_uc010pzv.1_Silent_p.T70T|ZMYND11_uc010pzw.1_Silent_p.T70T|ZMYND11_uc001ifm.2_Silent_p.T70T|ZMYND11_uc010pzx.1_Silent_p.T70T|ZMYND11_uc001ifn.2_Silent_p.T70T|ZMYND11_uc009xhg.2_Silent_p.T53T|ZMYND11_uc009xhh.2_Silent_p.T24T|ZMYND11_uc010pzy.1_Silent_p.T24T	p.T70T	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	3	638	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	30					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	ENST00000397962.3	37	c.210A>T	CCDS7052.2																																																																																				0.418	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		45	97	0	0	0	0.003214	0	45	97				
SVIL	6840	broad.mit.edu	37	10	29821735	29821735	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:29821735T>G	ENST00000355867.4	-	8	2313	c.1561A>C	c.(1561-1563)Agt>Cgt	p.S521R	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.S521R	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	521					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.S521R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACAGGCTCACTTTGAATGTAG	0.557																																							uc001iut.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)	6						c.(1561-1563)AGT>CGT		supervillin isoform 2							178.0	171.0	173.0					10																	29821735		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29821735T>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1561A>C	10.37:g.29821735T>G	ENSP00000348128:p.Ser521Arg					SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.S521R	p.S521R	NM_021738	NP_068506	O95425	SVIL_HUMAN			8	2314	-		Breast(68;0.103)	521					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1561A>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	10.15	1.271319	0.23221	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.11930	2.73;2.73	5.8	4.66	0.58398	.	0.568250	0.19055	N	0.123926	T	0.18002	0.0432	M	0.69823	2.125	0.80722	D	1	B	0.14012	0.009	B	0.11329	0.006	T	0.01884	-1.1254	9	.	.	.	-0.9411	12.8432	0.57815	0.0:0.0:0.1535:0.8464	.	521	O95425	SVIL_HUMAN	R	521	ENSP00000364547:S521R;ENSP00000348128:S521R	.	S	-	1	0	SVIL	29861741	1.000000	0.71417	0.787000	0.31911	0.084000	0.17831	3.815000	0.55651	1.008000	0.39264	0.533000	0.62120	AGT		0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			4	127	0	0	0	0.009096	0	4	127				
SVILP1	645954	broad.mit.edu	37	10	31001490	31001490	+	IGR	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:31001490A>C								SVILP1 (14098 upstream) : RP11-14C22.6 (10689 downstream)																							ACTACAGGAAAAAAATCTCAA	0.448																																							uc010qdx.1		NA																	0					NA						c.(931-933)AAA>ACA		SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																																				SO:0001628	intergenic_variant	0							g.chr10:31001490A>C																													10.37:g.31001490A>C							p.K311T							9	1474	+									Missense_Mutation	SNP		37	c.932A>C																																																																																				0	0.448									11	33	0	0	0	0.001368	0	11	33				
FAM21C	253725	broad.mit.edu	37	10	46261127	46261127	+	Splice_Site	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:46261127G>A	ENST00000336378.4	+	19	1856	c.1738G>A	c.(1738-1740)Gat>Aat	p.D580N	FAM21C_ENST00000374362.2_Splice_Site_p.D580N|FAM21C_ENST00000537517.1_Splice_Site_p.D556N|FAM21C_ENST00000359860.4_Splice_Site_p.D524N|FAM21C_ENST00000540872.1_Splice_Site_p.D580N	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	580					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.D579N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCTTTTCTAGGATAATCTTTT	0.403																																							uc001jcu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1738-1740)GAT>AAT		hypothetical protein LOC253725							53.0	54.0	54.0					10																	46261127		1587	3672	5259	SO:0001630	splice_region_variant	253725							g.chr10:46261127G>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1738-1G>A	10.37:g.46261127G>A						FAM21C_uc001jcs.1_Missense_Mutation_p.D525N|FAM21C_uc001jct.2_Missense_Mutation_p.D580N|FAM21C_uc010qfi.1_Missense_Mutation_p.D556N|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'UTR	p.D580N	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN			19	1837	+			580					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.1738G>A		.	.	.	.	.	.	.	.	.	.	G	13.97	2.395003	0.42512	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.18	3.18	0.36537	.	0.132739	0.33691	N	0.004641	T	0.69771	0.3148	M	0.66939	2.045	0.37723	D	0.924983	D;P;P;P	0.71674	0.998;0.629;0.629;0.678	D;B;B;P	0.81914	0.995;0.249;0.249;0.486	T	0.73490	-0.3966	8	.	.	.	-15.1712	10.06	0.42268	0.0:0.0:1.0:0.0	.	556;580;580;525	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	N	580;580;556;580;580;524;492	.	.	D	+	1	0	FAM21C	45581133	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	4.430000	0.59907	1.797000	0.52628	0.494000	0.49563	GAT		0.403	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Missense_Mutation	44	88	0	0	0	0.00361	0	44	88				
PRF1	5551	broad.mit.edu	37	10	72360376	72360376	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:72360376A>G	ENST00000441259.1	-	2	443	c.283T>C	c.(283-285)Tgg>Cgg	p.W95R	PRF1_ENST00000373209.2_Missense_Mutation_p.W95R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	95	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.W95R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGGGCCCGCCAGTTGGTGAGC	0.657			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														uc009xqg.2		NA	yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		various leukaemia|lymphoma			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3	GRCh37	CM012645	PRF1	M		c.(283-285)TGG>CGG		perforin 1 precursor							24.0	26.0	25.0					10																	72360376		2203	4298	6501	SO:0001583	missense	5551	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72360376A>G	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.283T>C	10.37:g.72360376A>G	ENSP00000398568:p.Trp95Arg					PRF1_uc001jrf.3_Missense_Mutation_p.W95R	p.W95R	NM_001083116	NP_001076585	P14222	PERF_HUMAN			2	444	-			95			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.283T>C	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640807	0.67244	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.94723	-3.5;-3.5	5.8	5.8	0.92144	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98404	1.0569	10	0.87932	D	0	-32.0276	14.107	0.65096	1.0:0.0:0.0:0.0	.	95	P14222	PERF_HUMAN	R	95	ENSP00000362305:W95R;ENSP00000398568:W95R	ENSP00000316746:W95R	W	-	1	0	PRF1	72030382	1.000000	0.71417	0.990000	0.47175	0.348000	0.29142	7.888000	0.87302	2.209000	0.71365	0.533000	0.62120	TGG		0.657	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		7	17	0	0	0	0.00308	0	7	17				
CFAP43	80217	broad.mit.edu	37	10	105944850	105944850	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:105944850T>G	ENST00000278064.2	-	16	2183	c.1858A>C	c.(1858-1860)Atg>Ctg	p.M620L	WDR96_ENST00000357060.3_Missense_Mutation_p.M689L|WDR96_ENST00000428666.1_Missense_Mutation_p.M690L														p.M689L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAAATTCTCATTGACTGAATC	0.383																																							uc001kxw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2065-2067)ATG>CTG		hypothetical protein LOC80217							189.0	165.0	174.0					10																	105944850		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105944850T>G																												ENST00000278064.2:c.1858A>C	10.37:g.105944850T>G	ENSP00000278064:p.Met620Leu					C10orf79_uc009xxq.2_5'UTR|C10orf79_uc001kxx.3_Missense_Mutation_p.M690L	p.M689L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	16	2181	-		Colorectal(252;0.178)	689			WD 9.			Missense_Mutation	SNP	ENST00000278064.2	37	c.2065A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.031|2.031	-0.422433|-0.422433	0.04734|0.04734	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064|ENST00000434629	T;T;T|.	0.23348|.	1.91;1.91;1.91|.	5.18|5.18	-4.92|-4.92	0.03075|0.03075	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.814652|.	0.11005|.	N|.	0.610082|.	T|T	0.11750|0.11750	0.0286|0.0286	N|N	0.04203|0.04203	-0.255|-0.255	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.08055|.	0.003;0.002|.	T|T	0.23976|0.23976	-1.0173|-1.0173	10|5	0.21014|.	T|.	0.42|.	.|.	4.6824|4.6824	0.12741|0.12741	0.5014:0.2635:0.0:0.2351|0.5014:0.2635:0.0:0.2351	.|.	690;689|.	B4DHB6;Q8NDM7|.	.;WDR96_HUMAN|.	L|H	689;690;620|49	ENSP00000349568:M689L;ENSP00000400289:M690L;ENSP00000278064:M620L|.	ENSP00000278064:M620L|.	M|Q	-|-	1|3	0|2	WDR96|WDR96	105934840|105934840	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.879000|0.879000	0.50718|0.50718	-2.012000|-2.012000	0.01451|0.01451	-1.329000|-1.329000	0.02258|0.02258	-0.256000|-0.256000	0.11100|0.11100	ATG|CAA		0.383	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			5	107	0	0	0	0.001168	0	5	107				
RPLP2	6181	broad.mit.edu	37	11	812597	812597	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:812597T>C	ENST00000321153.4	+	4	629	c.235T>C	c.(235-237)Tct>Cct	p.S79P	SNORA52_ENST00000362915.1_RNA|RPLP2_ENST00000530797.1_Missense_Mutation_p.S79P|RPLP2_ENST00000532004.1_3'UTR	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	79					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.S79P(1)		lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCCCAGGCTCTGCAGCCCC	0.637																																							uc001lrq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(235-237)TCT>CCT		ribosomal protein P2							45.0	41.0	42.0					11																	812597		2203	4299	6502	SO:0001583	missense	6181				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr11:812597T>C	M17887	CCDS7717.1	11p15.5	2011-07-29			ENSG00000177600	ENSG00000177600		"""L ribosomal proteins"""	10377	protein-coding gene	gene with protein product	"""60S acidic ribosomal protein P2"", ""acidic ribosomal phosphoprotein P2"""	180530		D11S2243E		3323886	Standard	NM_001004		Approved	P2, RPP2, MGC71408, LP2	uc001lrq.1	P05387	OTTHUMG00000133317	ENST00000321153.4:c.235T>C	11.37:g.812597T>C	ENSP00000322419:p.Ser79Pro					RPLP2_uc001lrr.1_Missense_Mutation_p.S79P	p.S79P	NM_001004	NP_000995	P05387	RLA2_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	340	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	79					Q6FG96	Missense_Mutation	SNP	ENST00000321153.4	37	c.235T>C	CCDS7717.1	.	.	.	.	.	.	.	.	.	.	T	9.471	1.095679	0.20471	.	.	ENSG00000177600	ENST00000321153;ENST00000530797	.	.	.	4.82	0.787	0.18596	.	0.287736	0.32918	N	0.005487	T	0.26268	0.0641	N	0.12182	0.205	0.39414	D	0.966808	B	0.06786	0.001	B	0.10450	0.005	T	0.03240	-1.1057	9	0.30854	T	0.27	-9.0472	3.2185	0.06707	0.1257:0.0752:0.2878:0.5113	.	79	P05387	RLA2_HUMAN	P	79	.	ENSP00000322419:S79P	S	+	1	0	RPLP2	802597	0.706000	0.27856	0.690000	0.30148	0.225000	0.24961	1.055000	0.30467	0.271000	0.22005	-0.396000	0.06452	TCT		0.637	RPLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257115.2	NM_001004		7	32	0	0	0	0.008291	0	7	32				
COPB1	1315	broad.mit.edu	37	11	14512166	14512166	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:14512166T>G	ENST00000249923.3	-	5	851	c.551A>C	c.(550-552)gAg>gCg	p.E184A	COPB1_ENST00000439561.2_Missense_Mutation_p.E184A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	184					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.E184A(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						TGCATCCTTCTCATTCACCAG	0.308																																							uc001mli.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(550-552)GAG>GCG		coatomer protein complex, subunit beta 1							106.0	91.0	96.0					11																	14512166		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.chr11:14512166T>G	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.551A>C	11.37:g.14512166T>G	ENSP00000249923:p.Glu184Ala					COPB1_uc001mlg.2_Missense_Mutation_p.E184A|COPB1_uc001mlh.2_Missense_Mutation_p.E184A	p.E184A	NM_016451	NP_057535	P53618	COPB_HUMAN			5	858	-			184					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.551A>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385641	0.82792	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.28255	1.62;1.62;1.62	4.97	4.97	0.65823	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	H	0.95780	3.72	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.78157	-0.2313	10	0.87932	D	0	.	14.63	0.68650	0.0:0.0:0.0:1.0	.	184	P53618	COPB_HUMAN	A	184	ENSP00000249923:E184A;ENSP00000397873:E184A;ENSP00000436383:E184A	ENSP00000249923:E184A	E	-	2	0	COPB1	14468742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	1.977000	0.57605	0.477000	0.44152	GAG		0.308	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		3	60	0	0	0	0.000602	0	3	60				
OR4A5	81318	broad.mit.edu	37	11	51412305	51412305	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:51412305G>C	ENST00000319760.6	-	1	143	c.91C>G	c.(91-93)Ctc>Gtc	p.L31V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L31V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAGTATGTGAGTAAAAACATG	0.428																																							uc001nhi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(91-93)CTC>GTC		olfactory receptor, family 4, subfamily A,							53.0	49.0	50.0					11																	51412305		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412305G>C	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.91C>G	11.37:g.51412305G>C	ENSP00000367664:p.Leu31Val						p.L31V	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	91	-		all_lung(304;0.236)	31			Helical; Name=1; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.91C>G	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	0.027	-1.365753	0.01235	.	.	ENSG00000221840	ENST00000319760	T	0.13778	2.56	2.01	2.01	0.26516	.	0.553001	0.15146	N	0.278007	T	0.07369	0.0186	N	0.11870	0.19	0.09310	N	1	B	0.17667	0.023	B	0.18871	0.023	T	0.35051	-0.9804	10	0.23302	T	0.38	.	10.098	0.42486	0.0:0.0:1.0:0.0	.	31	Q8NH83	OR4A5_HUMAN	V	31	ENSP00000367664:L31V	ENSP00000367664:L31V	L	-	1	0	OR4A5	51268881	0.000000	0.05858	0.129000	0.21949	0.032000	0.12392	-0.648000	0.05391	1.441000	0.47550	0.162000	0.16502	CTC		0.428	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		19	39	0	0	0	0.006122	0	19	39				
CCDC88B	283234	broad.mit.edu	37	11	64108420	64108420	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:64108420T>G	ENST00000356786.5	+	3	292	c.248T>G	c.(247-249)cTt>cGt	p.L83R	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	83						membrane (GO:0016020)		p.L83R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCAGAGGCCTTGACGGACCT	0.667																																							uc001nzy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(247-249)CTT>CGT		coiled-coil domain containing 88							66.0	72.0	70.0					11																	64108420		2201	4297	6498	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64108420T>G	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.248T>G	11.37:g.64108420T>G	ENSP00000349238:p.Leu83Arg					CCDC88B_uc009ypo.1_Missense_Mutation_p.L80R|CCDC88B_uc001nzz.1_5'Flank	p.L83R	NM_032251	NP_115627	A6NC98	CC88B_HUMAN			3	292	+			83					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.248T>G	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	7.266	0.606204	0.14002	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.16457	2.34	2.81	-5.61	0.02489	.	.	.	.	.	T	0.07548	0.0190	N	0.17082	0.46	0.09310	N	0.99999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28038	-1.0056	9	0.48119	T	0.1	.	2.2257	0.03983	0.1734:0.1339:0.4192:0.2735	.	83;83	B2RTU8;A6NC98	.;CC88B_HUMAN	R	83	ENSP00000349238:L83R	ENSP00000349238:L83R	L	+	2	0	CCDC88B	63864996	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.667000	0.01961	-2.360000	0.00610	-1.035000	0.02400	CTT		0.667	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		21	89	0	0	0	0.005443	0	21	89				
ATM	472	broad.mit.edu	37	11	108236087	108236087	+	Missense_Mutation	SNP	G	G	A	rs587781894		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:108236087G>A	ENST00000452508.2	+	64	9212	c.9023G>A	c.(9022-9024)cGt>cAt	p.R3008H	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R3008H|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3008			R -> C (in AT, T-prolymphocytic leukemia and mantle cell lymphoma). {ECO:0000269|PubMed:10706620, ECO:0000269|PubMed:10817650, ECO:0000269|PubMed:9334731, ECO:0000269|PubMed:9488043, ECO:0000269|PubMed:9872980}.|R -> H (in B-cell chronic lymphocytic leukemia). {ECO:0000269|PubMed:10397742}.		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.R3008H(6)		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)	GTAGCTGAACGTGTCTTAATG	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	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		6	Substitution - Missense(6)	p.R3008C(4)|p.R3008H(4)	haematopoietic_and_lymphoid_tissue(4)|lung(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.(9022-9024)CGT>CAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							129.0	126.0	127.0					11																	108236087		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108236087G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9023G>A	11.37:g.108236087G>A	ENSP00000388058:p.Arg3008His	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.R3008H|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.R1660H	p.R3008H	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)	63	9408	+		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)	3008		R -> C (in AT, T-prolymphocytic leukemia and mantle cell lymphoma).|R -> H (in B-cell chronic lymphocytic leukemia).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.9023G>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657099	0.88154	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.02258	4.37;4.37	5.22	5.22	0.72569	Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.110750	0.64402	D	0.000007	T	0.14657	0.0354	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00081	-1.2107	10	0.87932	D	0	.	19.0354	0.92974	0.0:0.0:1.0:0.0	.	3008	Q13315	ATM_HUMAN	H	3008	ENSP00000278616:R3008H;ENSP00000388058:R3008H	ENSP00000278616:R3008H	R	+	2	0	ATM	107741297	1.000000	0.71417	0.995000	0.50966	0.518000	0.34316	9.405000	0.97313	2.726000	0.93360	0.650000	0.86243	CGT		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		22	71	0	0	0	0.002299	0	22	71				
TRIM29	23650	broad.mit.edu	37	11	119996453	119996453	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:119996453T>G	ENST00000341846.5	-	4	1700	c.1279A>C	c.(1279-1281)Atg>Ctg	p.M427L	TRIM29_ENST00000529044.1_Missense_Mutation_p.M166L|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000524816.3_5'Flank|TRIM29_ENST00000541857.1_Missense_Mutation_p.M160L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	427					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.M427L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCTTGCACATCTTCTCAACG	0.577																																							uc001pwz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1279-1281)ATG>CTG		tripartite motif protein TRIM29							96.0	87.0	90.0					11																	119996453		2199	4295	6494	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:119996453T>G	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1279A>C	11.37:g.119996453T>G	ENSP00000343129:p.Met427Leu					TRIM29_uc001pwy.2_5'Flank|TRIM29_uc010rzi.1_Missense_Mutation_p.M166L|TRIM29_uc010rzj.1_Missense_Mutation_p.M160L|TRIM29_uc001pxa.2_RNA	p.M427L	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	4	1403	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	427					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.1279A>C	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	T	9.155	1.017314	0.19355	.	.	ENSG00000137699	ENST00000341846;ENST00000541857;ENST00000529044	T	0.34275	1.37	4.54	4.54	0.55810	.	0.257753	0.35013	N	0.003520	T	0.19485	0.0468	N	0.08118	0	0.36444	D	0.865644	B;B;B	0.20988	0.021;0.05;0.031	B;B;B	0.23574	0.015;0.047;0.004	T	0.16689	-1.0394	9	.	.	.	.	12.9256	0.58258	0.0:0.0:0.0:1.0	.	160;166;427	B7Z8U9;E9PRL4;Q14134	.;.;TRI29_HUMAN	L	427;160;166	ENSP00000343129:M427L	.	M	-	1	0	TRIM29	119501663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.293000	0.43558	2.038000	0.60285	0.533000	0.62120	ATG		0.577	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		8	44	0	0	0	0.004482	0	8	44				
SLC6A12	6539	broad.mit.edu	37	12	301809	301809	+	Silent	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:301809A>G	ENST00000428720.1	-	15	2279	c.1536T>C	c.(1534-1536)acT>acC	p.T512T	SLC6A12_ENST00000359674.4_Silent_p.T512T|SLC6A12_ENST00000397296.2_Silent_p.T512T|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.T512T|SLC6A12_ENST00000424061.2_Silent_p.T512T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	512					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.T512T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGAAGAGGAAAGTGGCCTGGG	0.567																																							uc001qhz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1534-1536)ACT>ACC		solute carrier family 6 (neurotransmitter							86.0	89.0	88.0					12																	301809		2203	4300	6503	SO:0001819	synonymous_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:301809A>G	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1536T>C	12.37:g.301809A>G						SLC6A12_uc001qhx.2_Silent_p.T169T|SLC6A12_uc001qhy.2_Silent_p.T68T|SLC6A12_uc001qia.2_Silent_p.T512T|SLC6A12_uc001qib.2_Silent_p.T512T|SLC6A12_uc009zdh.1_Silent_p.T512T	p.T512T	NM_003044	NP_003035	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		16	2079	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		512			Helical; Name=11; (Potential).		A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	c.1536T>C	CCDS8501.1																																																																																				0.567	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		18	46	0	0	0	0.00499	0	18	46				
C2CD5	9847	broad.mit.edu	37	12	22680702	22680702	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:22680702G>A	ENST00000333957.4	-	4	557	c.302C>T	c.(301-303)gCt>gTt	p.A101V	C2CD5_ENST00000540703.1_5'Flank|C2CD5_ENST00000446597.1_Missense_Mutation_p.A101V|C2CD5_ENST00000536386.1_Missense_Mutation_p.A101V|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000396028.2_Missense_Mutation_p.A101V|C2CD5_ENST00000542676.1_Missense_Mutation_p.A101V|C2CD5_ENST00000545552.1_Missense_Mutation_p.A101V	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	101					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)	p.A101V(1)									GACTGTTGCAGCTTCACTATA	0.323																																							uc001rfq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(301-303)GCT>GTT		hypothetical protein LOC9847							174.0	156.0	162.0					12																	22680702		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22680702G>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.302C>T	12.37:g.22680702G>A	ENSP00000334229:p.Ala101Val					KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.A101V|KIAA0528_uc010sit.1_Missense_Mutation_p.A101V|KIAA0528_uc010siu.1_Missense_Mutation_p.A101V|KIAA0528_uc001rfr.2_Missense_Mutation_p.A101V|KIAA0528_uc009ziy.1_Missense_Mutation_p.A101V	p.A101V	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			4	530	-			101					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.302C>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427464	0.83667	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.66280	-0.18;-0.18;-0.2;-0.19;-0.18;-0.19	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	L	0.43152	1.355	0.80722	D	1	B;P;B;D;P	0.89917	0.34;0.79;0.23;1.0;0.668	B;B;B;D;B	0.76071	0.108;0.379;0.082;0.987;0.379	T	0.73196	-0.4059	10	0.46703	T	0.11	-22.1716	19.5963	0.95541	0.0:0.0:1.0:0.0	.	101;101;101;101;101	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	V	101	ENSP00000334229:A101V;ENSP00000388756:A101V;ENSP00000439392:A101V;ENSP00000379345:A101V;ENSP00000441951:A101V;ENSP00000443204:A101V	ENSP00000334229:A101V	A	-	2	0	KIAA0528	22571969	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.852000	0.99516	2.648000	0.89879	0.561000	0.74099	GCT		0.323	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		34	82	0	0	0	0.005524	0	34	82				
SP1	6667	broad.mit.edu	37	12	53805023	53805023	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:53805023G>A	ENST00000327443.4	+	6	2455	c.2357G>A	c.(2356-2358)tGa>tAa	p.*786*	SP1_ENST00000426431.2_Silent_p.*779*	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	0					cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.*786*(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AATGGCTTCTGAGATCAGGCA	0.552																																							uc001scw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2356-2358)TGA>TAA		Sp1 transcription factor isoform a							65.0	57.0	60.0					12																	53805023		2203	4300	6503	SO:0001819	synonymous_variant	6667				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:53805023G>A	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.2357G>A	12.37:g.53805023G>A						SP1_uc010sog.1_Silent_p.*779*	p.*786*	NM_138473	NP_612482	P08047	SP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.00527)	6	2454	+			786					E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	ENST00000327443.4	37	c.2357G>A	CCDS8857.1																																																																																				0.552	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1			4	39	0	0	0	0.000602	0	4	39				
OR6C2	341416	broad.mit.edu	37	12	55846627	55846627	+	Silent	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:55846627T>G	ENST00000322678.1	+	1	630	c.630T>G	c.(628-630)gtT>gtG	p.V210V	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	210					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V210V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCACCCTAGTTTGTGTGATTC	0.408																																							uc001sgz.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(628-630)GTT>GTG		olfactory receptor, family 6, subfamily C,							172.0	163.0	166.0					12																	55846627		2203	4300	6503	SO:0001819	synonymous_variant	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846627T>G	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.630T>G	12.37:g.55846627T>G							p.V210V	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	630	+			210			Helical; Name=5; (Potential).			Silent	SNP	ENST00000322678.1	37	c.630T>G	CCDS31824.1																																																																																				0.408	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		33	110	0	0	0	0.003755	0	33	110				
KRR1	11103	broad.mit.edu	37	12	75897801	75897801	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:75897801A>T	ENST00000229214.4	-	7	737	c.714T>A	c.(712-714)agT>agA	p.S238R	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	238					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.S238R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						ATCTCTCCCAACTTTGTGATC	0.343																																							uc001sxt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(712-714)AGT>AGA		HIV-1 rev binding protein 2							147.0	138.0	141.0					12																	75897801		2203	4300	6503	SO:0001583	missense	11103				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	g.chr12:75897801A>T	U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.714T>A	12.37:g.75897801A>T	ENSP00000229214:p.Ser238Arg					KRR1_uc009zsc.2_Intron	p.S238R	NM_007043	NP_008974	Q13601	KRR1_HUMAN			7	755	-			238					A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	ENST00000229214.4	37	c.714T>A	CCDS9012.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998724	0.74818	.	.	ENSG00000111615	ENST00000229214	T	0.30182	1.54	5.86	4.71	0.59529	.	0.173966	0.64402	D	0.000004	T	0.41834	0.1176	M	0.86651	2.83	0.80722	D	1	P	0.38370	0.628	B	0.41723	0.365	T	0.49881	-0.8892	10	0.72032	D	0.01	-8.5785	8.7497	0.34609	0.7701:0.0:0.2299:0.0	.	238	Q13601	KRR1_HUMAN	R	238	ENSP00000229214:S238R	ENSP00000229214:S238R	S	-	3	2	KRR1	74184068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.366000	0.44204	2.244000	0.73946	0.477000	0.44152	AGT		0.343	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043		8	124	0	0	0	0.00308	0	8	124				
UTP20	27340	broad.mit.edu	37	12	101723073	101723073	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:101723073T>G	ENST00000261637.4	+	27	3437	c.3263T>G	c.(3262-3264)gTt>gGt	p.V1088G		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1088					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.V1088G(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTCTAAAGTTCTTCCTTTA	0.413																																							uc001tia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(3262-3264)GTT>GGT		down-regulated in metastasis							156.0	136.0	143.0					12																	101723073		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101723073T>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3263T>G	12.37:g.101723073T>G	ENSP00000261637:p.Val1088Gly						p.V1088G	NM_014503	NP_055318	O75691	UTP20_HUMAN			27	3419	+			1088					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3263T>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143978	0.77888	.	.	ENSG00000120800	ENST00000261637	T	0.22134	1.97	5.6	4.42	0.53409	Armadillo-type fold (1);	0.124031	0.53938	D	0.000042	T	0.27419	0.0673	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	P	0.51193	0.662	T	0.04307	-1.0961	10	0.26408	T	0.33	-13.2413	7.2764	0.26288	0.1304:0.07:0.0:0.7996	.	1088	O75691	UTP20_HUMAN	G	1088	ENSP00000261637:V1088G	ENSP00000261637:V1088G	V	+	2	0	UTP20	100247204	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	4.909000	0.63314	1.018000	0.39521	0.482000	0.46254	GTT		0.413	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		8	100	0	0	0	0.00308	0	8	100				
HSP90B1	7184	broad.mit.edu	37	12	104336857	104336857	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:104336857A>T	ENST00000299767.5	+	13	1832	c.1650A>T	c.(1648-1650)gaA>gaT	p.E550D		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	550					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.E550D(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TGTAGGCTGAATCTTCTCCAT	0.388																																							uc001tkb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1648-1650)GAA>GAT		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						108.0	118.0	115.0					12																	104336857		2202	4300	6502	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336857A>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1650A>T	12.37:g.104336857A>T	ENSP00000299767:p.Glu550Asp					HSP90B1_uc010swg.1_Missense_Mutation_p.E215D|HSP90B1_uc009zui.1_Intron	p.E550D	NM_003299	NP_003290	P14625	ENPL_HUMAN			13	1755	+			550					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1650A>T	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	A	19.16	3.773099	0.69992	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.11495	2.77	5.85	1.98	0.26296	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	M	0.84511	2.7	0.80722	D	1	P	0.48834	0.916	P	0.45829	0.494	T	0.02371	-1.1169	10	0.52906	T	0.07	.	9.564	0.39387	0.5747:0.0:0.4253:0.0	.	550	P14625	ENPL_HUMAN	D	550;300	ENSP00000299767:E550D	ENSP00000299767:E550D	E	+	3	2	HSP90B1	102860987	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	1.045000	0.30341	0.141000	0.18875	0.523000	0.50628	GAA		0.388	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		35	104	0	0	0	0.002522	0	35	104				
ALDH1L2	160428	broad.mit.edu	37	12	105420361	105420361	+	Missense_Mutation	SNP	A	A	C	rs374849803		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:105420361A>C	ENST00000258494.9	-	22	2818	c.2678T>G	c.(2677-2679)tTt>tGt	p.F893C	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	893	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.F893C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AACTCCGCCAAATGGGGCCGC	0.393																																							uc001tlc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2677-2679)TTT>TGT		aldehyde dehydrogenase 1 family, member L2							101.0	101.0	101.0					12																	105420361		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105420361A>C	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2678T>G	12.37:g.105420361A>C	ENSP00000258494:p.Phe893Cys					ALDH1L2_uc009zuo.2_Missense_Mutation_p.F348C|ALDH1L2_uc009zup.2_RNA	p.F893C	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			22	2805	-			893			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2678T>G	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120806	0.77436	.	.	ENSG00000136010	ENST00000258494	D	0.84070	-1.8	5.28	5.28	0.74379	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97001	0.9729	10	0.87932	D	0	.	15.2076	0.73192	1.0:0.0:0.0:0.0	.	893	Q3SY69	AL1L2_HUMAN	C	893	ENSP00000258494:F893C	ENSP00000258494:F893C	F	-	2	0	ALDH1L2	103944491	1.000000	0.71417	0.600000	0.28864	0.724000	0.41520	9.320000	0.96346	1.987000	0.57996	0.460000	0.39030	TTT		0.393	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		30	89	0	0	0	0.008361	0	30	89				
PABPC3	5042	broad.mit.edu	37	13	25670991	25670991	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:25670991A>G	ENST00000281589.3	+	1	692	c.655A>G	c.(655-657)Agt>Ggt	p.S219G		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	219	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.S219G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCCCGCCTTAAGTGTGAAAGT	0.418																																							uc001upy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(655-657)AGT>GGT		poly(A) binding protein, cytoplasmic 3							80.0	75.0	77.0					13																	25670991		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670991A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.655A>G	13.37:g.25670991A>G	ENSP00000281589:p.Ser219Gly						p.S219G	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	716	+		Lung SC(185;0.0225)|Breast(139;0.0602)	219			RRM 3.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.655A>G	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.731676	0.48939	.	.	ENSG00000151846	ENST00000281589	D	0.85702	-2.02	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.56097	U	0.000033	T	0.78259	0.4255	L	0.58510	1.815	0.48571	D	0.999675	P	0.43662	0.814	B	0.38562	0.276	T	0.75499	-0.3296	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	219	Q9H361	PABP3_HUMAN	G	219	ENSP00000281589:S219G	ENSP00000281589:S219G	S	+	1	0	PABPC3	24568991	1.000000	0.71417	0.746000	0.31095	0.754000	0.42855	2.707000	0.47143	0.692000	0.31613	0.374000	0.22700	AGT		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		4	68	0	0	0	0.000602	0	4	68				
USP12	219333	broad.mit.edu	37	13	27690659	27690659	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:27690659T>A	ENST00000282344.6	-	2	379	c.123A>T	c.(121-123)ttA>ttT	p.L41F		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	41	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L41F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTACATTGACTAATCCAAAAT	0.343																																					Ovarian(37;808 911 7590 44442 44991)	Ovarian(37;808 911 7590 44442 44991)	uc001uqy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(121-123)TTA>TTT		ubiquitin thiolesterase 12							74.0	69.0	71.0					13																	27690659		2203	4300	6503	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27690659T>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.123A>T	13.37:g.27690659T>A	ENSP00000282344:p.Leu41Phe						p.L41F	NM_182488	NP_872294	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	2	376	-		Lung SC(185;0.0161)	41					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.123A>T	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.249264	0.80024	.	.	ENSG00000152484	ENST00000282344	T	0.20069	2.1	5.5	4.28	0.50868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	M	0.90922	3.16	0.80722	D	1	P	0.51057	0.941	P	0.55011	0.766	T	0.54330	-0.8310	10	0.59425	D	0.04	-11.2566	11.4212	0.49982	0.1355:0.0:0.0:0.8645	.	41	O75317	UBP12_HUMAN	F	41	ENSP00000282344:L41F	ENSP00000282344:L41F	L	-	3	2	USP12	26588659	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.348000	0.44045	0.870000	0.35726	0.379000	0.24179	TTA		0.343	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		15	28	0	0	0	0.003163	0	15	28				
N4BP2L2	10443	broad.mit.edu	37	13	33091950	33091950	+	Missense_Mutation	SNP	T	T	G	rs138840363		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:33091950T>G	ENST00000267068.3	-	6	1905	c.1741A>C	c.(1741-1743)Aat>Cat	p.N581H	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	581					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.N581H(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TAATGATTATTTGTGACACAG	0.408																																							uc001uuk.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1741-1743)AAT>CAT		phosphonoformate immuno-associated protein 5							104.0	100.0	101.0					13																	33091950		2202	4300	6502	SO:0001583	missense	10443							g.chr13:33091950T>G	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1741A>C	13.37:g.33091950T>G	ENSP00000267068:p.Asn581His					N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010abe.1_Intron|N4BP2L2_uc010tdz.1_Intron	p.N581H	NM_014887	NP_055702	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	6	1919	-		Lung SC(185;0.0262)	581					A3KME8	Missense_Mutation	SNP	ENST00000267068.3	37	c.1741A>C	CCDS9346.1	.	.	.	.	.	.	.	.	.	.	T	7.461	0.644712	0.14451	.	.	ENSG00000244754	ENST00000267068	T	0.45276	0.9	5.53	-6.02	0.02192	.	.	.	.	.	T	0.22399	0.0540	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.27606	-1.0069	9	0.72032	D	0.01	.	3.7626	0.08610	0.1117:0.3996:0.1152:0.3735	.	581	Q92802	N42L2_HUMAN	H	581	ENSP00000267068:N581H	ENSP00000267068:N581H	N	-	1	0	N4BP2L2	31989950	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.276000	0.02815	-1.202000	0.02655	-0.280000	0.10049	AAT		0.408	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044421.1	NM_014887		3	35	0	0	0	0.004672	0	3	35				
LRCH1	23143	broad.mit.edu	37	13	47224374	47224374	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:47224374T>A	ENST00000389798.3	+	2	543	c.346T>A	c.(346-348)Ttg>Atg	p.L116M	LRCH1_ENST00000389797.3_Missense_Mutation_p.L116M|LRCH1_ENST00000311191.6_Missense_Mutation_p.L116M	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	116								p.L116M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCCAATGGAATTGTGCCATTT	0.333																																							uc001vbj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(346-348)TTG>ATG		leucine-rich repeats and calponin homology (CH)							87.0	81.0	83.0					13																	47224374		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47224374T>A	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.346T>A	13.37:g.47224374T>A	ENSP00000374448:p.Leu116Met					LRCH1_uc010acp.2_Missense_Mutation_p.L116M|LRCH1_uc001vbk.2_Missense_Mutation_p.L116M|LRCH1_uc001vbl.3_Missense_Mutation_p.L116M	p.L116M	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	2	582	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	116			LRR 1.		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.346T>A	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735243	0.48939	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.57595	0.39;0.39;0.39	5.37	2.96	0.34315	.	0.209202	0.33553	N	0.004782	T	0.65026	0.2652	M	0.72353	2.195	0.37795	D	0.927516	D;D;D;P	0.76494	0.999;0.997;0.999;0.768	D;D;D;B	0.77004	0.989;0.939;0.982;0.326	T	0.65615	-0.6125	10	0.59425	D	0.04	-17.2355	5.1674	0.15092	0.0:0.1606:0.1512:0.6882	.	116;116;116;116	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	M	116	ENSP00000308493:L116M;ENSP00000374448:L116M;ENSP00000374447:L116M	ENSP00000308493:L116M	L	+	1	2	LRCH1	46122375	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	0.661000	0.25023	0.435000	0.26365	-0.410000	0.06199	TTG		0.333	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		10	30	0	0	0	0.006214	0	10	30				
FAM214A	56204	broad.mit.edu	37	15	52874472	52874472	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr15:52874472A>T	ENST00000261844.7	-	13	3262	c.3110T>A	c.(3109-3111)cTc>cAc	p.L1037H	FAM214A_ENST00000546305.2_Missense_Mutation_p.L1044H|RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1037								p.L1037H(1)									GTCTCTATGGAGGTAGATCTT	0.358																																							uc002acg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3109-3111)CTC>CAC		hypothetical protein LOC56204							68.0	62.0	64.0					15																	52874472		1814	4075	5889	SO:0001583	missense	56204							g.chr15:52874472A>T	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3110T>A	15.37:g.52874472A>T	ENSP00000261844:p.Leu1037His					KIAA1370_uc002ach.3_RNA|KIAA1370_uc002acf.3_Missense_Mutation_p.L67H|KIAA1370_uc010ugf.1_Missense_Mutation_p.L1044H	p.L1037H	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	13	3263	-			1037					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.3110T>A	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767456	0.69878	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.67523	-0.26;-0.27	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81061	-0.1103	10	0.87932	D	0	.	14.2575	0.66062	1.0:0.0:0.0:0.0	.	1044;1037	F5H8G0;Q32MH5	.;K1370_HUMAN	H	1037;1037;1044	ENSP00000261844:L1037H;ENSP00000443598:L1044H	ENSP00000261844:L1037H	L	-	2	0	KIAA1370	50661764	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.735000	0.91549	1.954000	0.56735	0.366000	0.22137	CTC		0.358	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		12	18	0	0	0	0.003163	0	12	18				
ALDH1A2	8854	broad.mit.edu	37	15	58306126	58306126	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr15:58306126T>C	ENST00000249750.4	-	3	1060	c.293A>G	c.(292-294)gAt>gGt	p.D98G	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.D77G|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.D2G|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.D69G|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.D98G	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	98					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.D98G(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	TTCTGAAGCATCCATCCTTCT	0.483																																							uc002aex.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(292-294)GAT>GGT		aldehyde dehydrogenase 1A2 isoform 1	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						252.0	267.0	262.0					15																	58306126		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306126T>C	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.293A>G	15.37:g.58306126T>C	ENSP00000249750:p.Asp98Gly					ALDH1A2_uc002aey.2_Missense_Mutation_p.D98G|ALDH1A2_uc010ugv.1_Missense_Mutation_p.D77G|ALDH1A2_uc010ugw.1_Missense_Mutation_p.D69G|ALDH1A2_uc002aew.2_Missense_Mutation_p.D2G	p.D98G	NM_003888	NP_003879	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	351	-			98					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.293A>G	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283461	0.80803	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.15834	2.39;2.39;2.39	4.68	4.68	0.58851	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	L	0.43646	1.37	0.80722	D	1	P;P;D;D	0.76494	0.918;0.899;0.999;0.999	P;P;D;D	0.77004	0.758;0.644;0.953;0.989	T	0.07309	-1.0779	10	0.87932	D	0	.	14.3082	0.66397	0.0:0.0:0.0:1.0	.	69;77;98;98	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	G	98;2;69;98;77	ENSP00000249750:D98G;ENSP00000309623:D98G;ENSP00000438296:D77G	ENSP00000249750:D98G	D	-	2	0	ALDH1A2	56093418	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.525000	0.81892	1.962000	0.57031	0.528000	0.53228	GAT		0.483	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			94	190	0	0	0	0.00361	0	94	190				
PLEKHO2	80301	broad.mit.edu	37	15	65157638	65157638	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr15:65157638T>C	ENST00000323544.4	+	6	1152	c.1024T>C	c.(1024-1026)Tca>Cca	p.S342P	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	342	Pro-rich.							p.S342P(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTGCAGGTCTCAGTGAATGG	0.577																																							uc002anv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1024-1026)TCA>CCA		pleckstrin homology domain containing, family O							61.0	63.0	63.0					15																	65157638		2202	4299	6501	SO:0001583	missense	80301							g.chr15:65157638T>C	AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1024T>C	15.37:g.65157638T>C	ENSP00000326706:p.Ser342Pro					PLEKHO2_uc010bgz.2_Missense_Mutation_p.S18P|PLEKHO2_uc002anw.2_Missense_Mutation_p.S292P	p.S342P	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN			6	1158	+			342			Pro-rich.		Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	c.1024T>C	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961849	0.53400	.	.	ENSG00000241839	ENST00000323544	T	0.36878	1.23	5.42	4.31	0.51392	.	0.501323	0.21193	N	0.078619	T	0.20414	0.0491	N	0.19112	0.55	0.33265	D	0.560248	B;B	0.23058	0.079;0.048	B;B	0.24155	0.051;0.023	T	0.17930	-1.0353	10	0.25751	T	0.34	.	5.6323	0.17518	0.0:0.1698:0.0:0.8302	.	292;342	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	P	342	ENSP00000326706:S342P	ENSP00000326706:S342P	S	+	1	0	PLEKHO2	62944691	0.708000	0.27876	0.998000	0.56505	0.931000	0.56810	0.764000	0.26532	2.048000	0.60808	0.533000	0.62120	TCA		0.577	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201		3	32	0	0	0	0.004672	0	3	32				
ABCC6	368	broad.mit.edu	37	16	16256971	16256971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:16256971C>A	ENST00000205557.7	-	24	3414	c.3385G>T	c.(3385-3387)Gag>Tag	p.E1129*		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1129	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.E1129*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TGGAACGTCTCAGCCATGTGG	0.567																																							uc002den.3		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(3385-3387)GAG>TAG		ATP-binding cassette, sub-family C, member 6							60.0	60.0	60.0					16																	16256971		2197	4300	6497	SO:0001587	stop_gained	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16256971C>A	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.3385G>T	16.37:g.16256971C>A	ENSP00000205557:p.Glu1129*					ABCC6_uc010bvo.2_Intron	p.E1129*	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	24	3422	-			1129			ABC transmembrane type-1 2.|Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Nonsense_Mutation	SNP	ENST00000205557.7	37	c.3385G>T	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	C	42	9.759704	0.99257	.	.	ENSG00000091262	ENST00000205557	.	.	.	5.29	4.33	0.51752	.	0.451827	0.18100	U	0.151731	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.3119	0.60384	0.0:0.9238:0.0:0.0762	.	.	.	.	X	1129	.	ENSP00000205557:E1129X	E	-	1	0	ABCC6	16164472	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	6.066000	0.71185	2.451000	0.82905	0.563000	0.77884	GAG		0.567	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			25	56	1	0	5.35356e-11	0.00278	5.67054e-11	25	56				
TNRC6A	27327	broad.mit.edu	37	16	24800787	24800787	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:24800787A>C	ENST00000395799.3	+	6	953	c.824A>C	c.(823-825)aAc>aCc	p.N275T	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N275T	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	275	Interaction with argonaute family proteins.|Ser-rich.|Sufficient for interaction with AGO1, AGO3 and AGO4.|Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.N275T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCTTCAGGGAACACAGGTGGT	0.483																																							uc002dmm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(823-825)AAC>ACC		trinucleotide repeat containing 6A							98.0	95.0	96.0					16																	24800787		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24800787A>C	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.824A>C	16.37:g.24800787A>C	ENSP00000379144:p.Asn275Thr					TNRC6A_uc010bxs.2_Missense_Mutation_p.N22T|TNRC6A_uc010vcc.1_Missense_Mutation_p.N22T|TNRC6A_uc002dmn.2_Missense_Mutation_p.N22T|TNRC6A_uc002dmo.2_Missense_Mutation_p.N22T	p.N275T	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	938	+			275			Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Ser-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.824A>C	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	A	3.850	-0.031959	0.07543	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12984	2.64;2.63	5.81	2.76	0.32466	.	0.431628	0.28062	N	0.016746	T	0.08714	0.0216	N	0.19112	0.55	0.80722	D	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.13407	0.009;0.004;0.004	T	0.16129	-1.0413	10	0.56958	D	0.05	0.0031	7.9908	0.30239	0.3251:0.0:0.6749:0.0	.	22;275;275	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	T	275	ENSP00000326900:N275T;ENSP00000379144:N275T	ENSP00000326900:N275T	N	+	2	0	TNRC6A	24708288	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	1.635000	0.37134	0.345000	0.23873	-0.456000	0.05471	AAC		0.483	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		4	102	0	0	0	0.009096	0	4	102				
CYLD	1540	broad.mit.edu	37	16	50783950	50783950	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:50783950A>C	ENST00000427738.3	+	2	546	c.341A>C	c.(340-342)aAa>aCa	p.K114T	CYLD_ENST00000564326.1_Missense_Mutation_p.K114T|CYLD_ENST00000540145.1_Missense_Mutation_p.K114T|CYLD_ENST00000311559.9_Missense_Mutation_p.K114T|CYLD_ENST00000568704.2_Missense_Mutation_p.K114T|CYLD_ENST00000398568.2_Missense_Mutation_p.K114T|CYLD_ENST00000566206.1_Missense_Mutation_p.K114T|CYLD_ENST00000569418.1_Missense_Mutation_p.K114T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	114	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K114T(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGCCTGTTTAAAAACAGAAAC	0.403			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(340-342)AAA>ACA		ubiquitin carboxyl-terminal hydrolase CYLD							68.0	66.0	67.0					16																	50783950		1844	4087	5931	SO:0001583	missense	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50783950A>C	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.341A>C	16.37:g.50783950A>C	ENSP00000392025:p.Lys114Thr					CYLD_uc002egn.1_Missense_Mutation_p.K114T|CYLD_uc002ego.2_Missense_Mutation_p.K114T|CYLD_uc010cbs.1_Missense_Mutation_p.K114T|CYLD_uc002egq.1_Missense_Mutation_p.K114T|CYLD_uc002egr.1_Missense_Mutation_p.K114T|CYLD_uc002egs.1_Missense_Mutation_p.K114T	p.K114T	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			4	756	+		all_cancers(37;0.0156)	114			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	c.341A>C	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439213	0.43326	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	6.17	2.71	0.32032	Cytoskeleton-associated protein, Gly-rich domain (1);	0.285510	0.44902	D	0.000402	T	0.56321	0.1977	N	0.19112	0.55	0.31220	N	0.697628	B;B;B;B	0.26258	0.09;0.045;0.145;0.026	B;B;B;B	0.26864	0.034;0.024;0.074;0.011	T	0.53899	-0.8373	10	0.27082	T	0.32	-14.8223	9.3351	0.38045	0.7902:0.0:0.2098:0.0	.	114;114;114;114	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	T	114	ENSP00000445447:K114T;ENSP00000308928:K114T;ENSP00000392025:K114T;ENSP00000381574:K114T	ENSP00000308928:K114T	K	+	2	0	CYLD	49341451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.932000	0.56537	0.574000	0.29417	0.533000	0.62120	AAA		0.403	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			8	128	0	0	0	0.00308	0	8	128				
GALNS	2588	broad.mit.edu	37	16	88898418	88898418	+	Silent	SNP	G	G	A	rs200073045		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:88898418G>A	ENST00000268695.5	-	9	1078	c.990C>T	c.(988-990)gtC>gtT	p.V330V	GALNS_ENST00000542788.1_Silent_p.V255V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	330	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.V330V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GGCCTGCAGTGACGTGCCCTG	0.677																																					GBM(129;1929 2344 25209 33204)	GBM(129;1929 2344 25209 33204)	uc002fly.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)	2						c.(988-990)GTC>GTT		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						74.0	55.0	61.0					16																	88898418		2198	4300	6498	SO:0001819	synonymous_variant	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88898418G>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.990C>T	16.37:g.88898418G>A						GALNS_uc010cid.2_Silent_p.V336V|GALNS_uc002flz.3_Silent_p.V13V	p.V330V	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	9	1079	-			330					Q86VK3	Silent	SNP	ENST00000268695.5	37	c.990C>T	CCDS10970.1																																																																																				0.677	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			15	16	0	0	0	0.00245	0	15	16				
GAS7	8522	broad.mit.edu	37	17	9828912	9828912	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:9828912C>T	ENST00000432992.2	-	11	1179	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	GAS7_ENST00000323816.4_Missense_Mutation_p.R280Q|GAS7_ENST00000580865.1_Missense_Mutation_p.R200Q|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.R276Q|GAS7_ENST00000542249.1_Missense_Mutation_p.R276Q|GAS7_ENST00000585266.1_Missense_Mutation_p.R280Q|GAS7_ENST00000579158.1_Missense_Mutation_p.R276Q|GAS7_ENST00000583882.1_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	340					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R340Q(2)|p.R200Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAGGGCTTTCCGGGCCTGGGG	0.617			T	MLL	AML*																																		uc002gmg.1		NA		Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		3	Substitution - Missense(3)		lung(2)|large_intestine(1)	lung(1)|pancreas(1)	2						c.(1018-1020)CGG>CAG		growth arrest-specific 7 isoform c							107.0	88.0	95.0					17																	9828912		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9828912C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.1019G>A	17.37:g.9828912C>T	ENSP00000407552:p.Arg340Gln					GAS7_uc010vvc.1_Missense_Mutation_p.R154Q|GAS7_uc002gmh.1_Missense_Mutation_p.R200Q|GAS7_uc010vvd.1_Missense_Mutation_p.R292Q|GAS7_uc002gmi.2_Missense_Mutation_p.R276Q|GAS7_uc002gmj.1_Missense_Mutation_p.R280Q|GAS7_uc010coh.1_Missense_Mutation_p.R280Q	p.R340Q	NM_201433	NP_958839	O60861	GAS7_HUMAN			11	1180	-			340			Potential.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.1019G>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389495	0.95988	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.45276	0.9	4.73	4.73	0.59995	.	0.143577	0.47455	D	0.000226	T	0.43389	0.1245	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.96;0.992	P;P;B;P	0.56751	0.805;0.46;0.44;0.543	T	0.26189	-1.0110	9	.	.	.	-4.3585	16.6524	0.85220	0.0:1.0:0.0:0.0	.	292;280;200;340	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	Q	340;280;279;200;280;154	ENSP00000379421:R280Q	.	R	-	2	0	GAS7	9769637	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.549000	0.82163	2.458000	0.83093	0.655000	0.94253	CGG		0.617	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		24	16	0	0	0	0.00278	0	24	16				
NCOR1	9611	broad.mit.edu	37	17	15938112	15938112	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:15938112C>G	ENST00000268712.3	-	45	7359	c.7102G>C	c.(7102-7104)Ggg>Cgg	p.G2368R	NCOR1_ENST00000395851.1_Missense_Mutation_p.G2265R|NCOR1_ENST00000395857.3_Missense_Mutation_p.G952R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2368	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.G2368R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGCCCACCCTGGCGTCTGC	0.468																																							uc002gpo.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(7102-7104)GGG>CGG		nuclear receptor co-repressor 1							102.0	103.0	103.0					17																	15938112		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15938112C>G	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.7102G>C	17.37:g.15938112C>G	ENSP00000268712:p.Gly2368Arg					NCOR1_uc002gpn.2_Missense_Mutation_p.G2265R|NCOR1_uc002gpl.2_Missense_Mutation_p.G382R|NCOR1_uc002gpm.2_Missense_Mutation_p.G887R|NCOR1_uc010vwb.1_Missense_Mutation_p.G952R|NCOR1_uc010coy.2_Missense_Mutation_p.G1276R	p.G2368R	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	45	7342	-			2368			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.7102G>C	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218643	0.58560	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.41758	0.99;1.58;0.99	5.51	4.53	0.55603	.	0.293325	0.39909	N	0.001226	T	0.56202	0.1969	L	0.44542	1.39	0.31404	N	0.676358	D;B;D;B;D	0.76494	0.974;0.037;0.999;0.404;0.976	P;B;D;B;P	0.69824	0.467;0.017;0.966;0.206;0.857	T	0.63871	-0.6539	10	0.59425	D	0.04	-11.8606	15.7842	0.78289	0.0:0.8634:0.1366:0.0	.	2271;2368;2265;887;381	E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;NCOR1_HUMAN;.;.;.	R	2368;2265;2271;952	ENSP00000268712:G2368R;ENSP00000379192:G2265R;ENSP00000379198:G952R	ENSP00000268712:G2368R	G	-	1	0	NCOR1	15878837	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	3.634000	0.54302	1.460000	0.47911	0.585000	0.79938	GGG		0.468	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		5	110	0	0	0	0.000602	0	5	110				
NCOR1	9611	broad.mit.edu	37	17	16062117	16062117	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:16062117T>C	ENST00000268712.3	-	6	946	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	NCOR1_ENST00000395848.1_Missense_Mutation_p.Q121R|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q230R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	230	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Q230R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCGGTGTTTCTGCTCCACAGG	0.493																																							uc002gpo.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(688-690)CAG>CGG		nuclear receptor co-repressor 1							99.0	87.0	91.0					17																	16062117		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16062117T>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.689A>G	17.37:g.16062117T>C	ENSP00000268712:p.Gln230Arg					NCOR1_uc002gpn.2_Missense_Mutation_p.Q230R|NCOR1_uc002gpp.1_Missense_Mutation_p.Q121R|NCOR1_uc002gpr.2_Missense_Mutation_p.Q121R|NCOR1_uc002gps.1_Missense_Mutation_p.Q230R|NCOR1_uc010coz.1_Missense_Mutation_p.Q46R|NCOR1_uc010cpb.1_Missense_Mutation_p.Q230R|NCOR1_uc010cpa.1_Missense_Mutation_p.Q230R	p.Q230R	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	6	929	-			230			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.689A>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.486274	0.44147	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.55	5.55	0.83447	.	0.047005	0.85682	D	0.000000	T	0.17152	0.0412	N	0.01352	-0.895	0.80722	D	1	B;B;B;B;B;D	0.56035	0.001;0.001;0.001;0.149;0.128;0.974	B;B;B;B;B;P	0.48189	0.005;0.005;0.005;0.032;0.076;0.57	T	0.38993	-0.9635	10	0.42905	T	0.14	-9.6317	14.8733	0.70474	0.0:0.0:0.0:1.0	.	230;230;230;121;230;230	E7EU93;E7EV02;E7EW50;E9PGV6;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	R	230;230;121;230;121;230;230	ENSP00000268712:Q230R;ENSP00000379192:Q230R;ENSP00000379189:Q121R;ENSP00000407998:Q230R;ENSP00000387727:Q230R	ENSP00000268712:Q230R	Q	-	2	0	NCOR1	16002842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.952000	0.63618	2.122000	0.65172	0.533000	0.62120	CAG		0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		3	58	0	0	0	0.009096	0	3	58				
C17orf104	284071	broad.mit.edu	37	17	42744680	42744680	+	Silent	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:42744680T>G	ENST00000409122.2	+	5	1543	c.1401T>G	c.(1399-1401)tcT>tcG	p.S467S	C17orf104_ENST00000409464.1_Silent_p.S301S|C17orf104_ENST00000359945.3_Silent_p.S467S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	467								p.S467S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CAGCAACATCTTCAGGAGGTA	0.328																																							uc010czv.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1399-1401)TCT>TCG		hypothetical protein LOC284071							80.0	87.0	85.0					17																	42744680		2203	4300	6503	SO:0001819	synonymous_variant	284071							g.chr17:42744680T>G		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1401T>G	17.37:g.42744680T>G						C17orf104_uc002igy.1_Silent_p.S301S|C17orf104_uc002igz.3_Silent_p.S301S|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Silent_p.S301S	p.S467S	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN			5	1401	+			467					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Silent	SNP	ENST00000409122.2	37	c.1401T>G	CCDS45703.2																																																																																				0.328	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		43	133	0	0	0	0.007835	0	43	133				
GFAP	2670	broad.mit.edu	37	17	42988815	42988815	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:42988815G>A	ENST00000253408.5	-	6	981	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Silent_p.L306L|GFAP_ENST00000435360.2_Silent_p.L306L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	306	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)	p.L306L(2)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGCCTCTCCAGGGACTCGTTC	0.726																																							uc002ihq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(916-918)CTG>TTG		glial fibrillary acidic protein isoform 1							25.0	27.0	27.0					17																	42988815		2201	4297	6498	SO:0001819	synonymous_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42988815G>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.916C>T	17.37:g.42988815G>A						GFAP_uc002ihr.2_Silent_p.L306L|GFAP_uc010wjg.1_RNA	p.L306L	NM_002055	NP_002046	P14136	GFAP_HUMAN			6	976	-		Prostate(33;0.0959)	306			Coil 2B.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	c.916C>T	CCDS11491.1																																																																																				0.726	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		12	40	0	0	0	0.001368	0	12	40				
LRRC37A2	474170	broad.mit.edu	37	17	44626586	44626586	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:44626586T>C	ENST00000576629.1	+	10	4576	c.4081T>C	c.(4081-4083)Tcc>Ccc	p.S1361P	ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.S1361P|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1361						integral component of membrane (GO:0016021)		p.S1361P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGCTTTTTCATCCTTAGGAGA	0.413																																							uc002ikn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4081-4083)TCC>CCC		c114 SLIT-like testicular protein precursor							14.0	22.0	19.0					17																	44626586		1790	4028	5818	SO:0001583	missense	474170					integral to membrane		g.chr17:44626586T>C	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4081T>C	17.37:g.44626586T>C	ENSP00000459551:p.Ser1361Pro					ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Missense_Mutation_p.S322P|LRRC37A2_uc010dax.1_Missense_Mutation_p.S291P	p.S1361P	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.232)	9	4084	+		Melanoma(429;0.211)	1361			Extracellular (Potential).		B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.4081T>C	CCDS42353.1	.	.	.	.	.	.	.	.	.	.	t	9.560	1.118215	0.20877	.	.	ENSG00000238083	ENST00000333412	T	0.63417	-0.04	2.36	-1.85	0.07784	.	.	.	.	.	T	0.44095	0.1277	N	0.25094	0.71	0.09310	N	0.999998	B;B;B	0.32543	0.001;0.375;0.012	B;B;B	0.38378	0.002;0.272;0.007	T	0.41520	-0.9504	9	0.59425	D	0.04	.	2.2576	0.04059	0.2293:0.3032:0.0:0.4675	.	1361;322;1361	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	P	1361	ENSP00000333071:S1361P	ENSP00000333071:S1361P	S	+	1	0	LRRC37A2	41981902	0.002000	0.14202	0.000000	0.03702	0.087000	0.18053	0.678000	0.25277	-0.456000	0.07043	0.147000	0.16070	TCC		0.413	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		13	160	0	0	0	0.00333	0	13	160				
TOB1	10140	broad.mit.edu	37	17	48941171	48941171	+	Nonsense_Mutation	SNP	G	G	A	rs142442521		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:48941171G>A	ENST00000268957.3	-	3	636	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	TOB1_ENST00000499247.2_Nonsense_Mutation_p.Q70*|TOB1_ENST00000509385.1_5'UTR|TOB1-AS1_ENST00000416263.3_RNA|TOB1-AS1_ENST00000523470.1_RNA	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	70					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)	p.Q70*(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TTGGATGCTTGTTCAATCACT	0.428																																					NSCLC(144;643 1919 24513 29423 40686)	NSCLC(144;643 1919 24513 29423 40686)	uc002isw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(208-210)CAA>TAA		transducer of ERBB2, 1							243.0	208.0	220.0					17																	48941171		2203	4300	6503	SO:0001587	stop_gained	10140				negative regulation of cell proliferation		SH3/SH2 adaptor activity	g.chr17:48941171G>A	D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.208C>T	17.37:g.48941171G>A	ENSP00000268957:p.Gln70*					TOB1_uc010wmy.1_Nonsense_Mutation_p.Q70*|TOB1_uc010wmz.1_Nonsense_Mutation_p.Q70*	p.Q70*	NM_005749	NP_005740	P50616	TOB1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		1	243	-			70					B2R9T0|D3DTY3|Q4KMQ0	Nonsense_Mutation	SNP	ENST00000268957.3	37	c.208C>T	CCDS11576.1	.	.	.	.	.	.	.	.	.	.	G	37	6.132269	0.97310	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	.	.	.	5.8	5.8	0.92144	.	0.053930	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	.	.	.	X	70	.	ENSP00000268957:Q70X	Q	-	1	0	TOB1	46296170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.423000	0.52756	2.735000	0.93741	0.655000	0.94253	CAA		0.428	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000368364.1			14	196	0	0	0	0.001855	0	14	196				
ANKFN1	162282	broad.mit.edu	37	17	54517778	54517778	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:54517778T>C	ENST00000318698.2	+	8	1045	c.1010T>C	c.(1009-1011)cTt>cCt	p.L337P	ANKFN1_ENST00000566473.2_Missense_Mutation_p.L337P	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	337	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.L337P(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATCACAGGACTTACAATGGTA	0.428																																							uc002iun.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1009-1011)CTT>CCT		ankyrin-repeat and fibronectin type III domain							95.0	100.0	98.0					17																	54517778		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54517778T>C	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1010T>C	17.37:g.54517778T>C	ENSP00000321627:p.Leu337Pro						p.L337P	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			8	1045	+			337			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.1010T>C	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205515	0.39003	.	.	ENSG00000153930	ENST00000318698	D	0.85171	-1.95	5.69	5.69	0.88448	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95401	0.8490	10	0.87932	D	0	-10.2527	15.9537	0.79865	0.0:0.0:0.0:1.0	.	337	Q8N957	ANKF1_HUMAN	P	337	ENSP00000321627:L337P	ENSP00000321627:L337P	L	+	2	0	ANKFN1	51872777	1.000000	0.71417	0.923000	0.36655	0.102000	0.19082	6.863000	0.75489	2.179000	0.69175	0.528000	0.53228	CTT		0.428	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		4	81	0	0	0	0.009096	0	4	81				
TBX4	9496	broad.mit.edu	37	17	59543207	59543207	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:59543207A>C	ENST00000240335.1	+	3	354	c.309A>C	c.(307-309)aaA>aaC	p.K103N	RP11-15K2.2_ENST00000592766.1_RNA|TBX4_ENST00000393853.4_Missense_Mutation_p.K103N	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	103					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K103N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACAAGGTAAAAGTCACAGGCA	0.542																																							uc002izi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(307-309)AAA>AAC		T-box 4							180.0	148.0	159.0					17																	59543207		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59543207A>C	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.309A>C	17.37:g.59543207A>C	ENSP00000240335:p.Lys103Asn					TBX4_uc010ddo.2_Missense_Mutation_p.K103N|TBX4_uc010woy.1_Missense_Mutation_p.K103N	p.K103N	NM_018488	NP_060958	P57082	TBX4_HUMAN			3	354	+			103			T-box.		A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.309A>C	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849683	0.51270	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.88124	-2.34;-2.34	5.47	1.85	0.25348	p53-like transcription factor, DNA-binding (1);	0.051363	0.85682	D	0.000000	T	0.72581	0.3478	N	0.21282	0.65	0.58432	D	0.999997	P;P	0.35383	0.498;0.498	B;B	0.26310	0.068;0.068	T	0.62534	-0.6834	9	.	.	.	.	9.1494	0.36953	0.6144:0.0:0.3856:0.0	.	103;103	A5PKU7;P57082	.;TBX4_HUMAN	N	103	ENSP00000377435:K103N;ENSP00000240335:K103N	.	K	+	3	2	TBX4	56897989	0.997000	0.39634	0.998000	0.56505	0.984000	0.73092	0.490000	0.22403	0.145000	0.18977	0.533000	0.62120	AAA		0.542	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		15	66	0	0	0	0.003163	0	15	66				
DSG4	147409	broad.mit.edu	37	18	28979256	28979256	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:28979256C>T	ENST00000308128.4	+	9	1162	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P343S	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	343	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P343S(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGAACAAGCACCTAACATTCA	0.373																																							uc002kwq.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(1027-1029)CCT>TCT		desmoglein 4 isoform 2 preproprotein							99.0	103.0	102.0					18																	28979256		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28979256C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1027C>T	18.37:g.28979256C>T	ENSP00000311859:p.Pro343Ser					DSG4_uc002kwr.2_Missense_Mutation_p.P343S	p.P343S	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		9	1162	+			343			Cadherin 3.|Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1027C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151235	0.38021	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.48201	0.82;0.82	5.43	5.43	0.79202	Cadherin (5);Cadherin-like (1);	0.000000	0.34460	N	0.003957	T	0.39410	0.1077	N	0.20845	0.615	0.34630	D	0.719477	B;B	0.28584	0.216;0.071	B;B	0.36959	0.237;0.18	T	0.53823	-0.8384	10	0.52906	T	0.07	.	13.8694	0.63610	0.0:0.9266:0.0:0.0734	.	343;343	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	343	ENSP00000311859:P343S;ENSP00000352785:P343S	ENSP00000311859:P343S	P	+	1	0	DSG4	27233254	0.256000	0.24012	0.955000	0.39395	0.649000	0.38597	3.030000	0.49720	2.705000	0.92388	0.650000	0.86243	CCT		0.373	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		30	71	0	0	0	0.008361	0	30	71				
SLC25A52	147407	broad.mit.edu	37	18	29340050	29340050	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:29340050C>T	ENST00000579441.2	-	1	574	c.575G>A	c.(574-576)gGc>gAc	p.G192D	SLC25A52_ENST00000269205.5_Missense_Mutation_p.G202D			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	192					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.G192D(1)|p.G202D(1)									ACCTCGAAGGCCGAAAAACAA	0.478																																							uc002kxa.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(574-576)GGC>GAC		mitochondrial carrier triple repeat 2							71.0	70.0	70.0					18																	29340050		2203	4297	6500	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340050C>T		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.575G>A	18.37:g.29340050C>T	ENSP00000462754:p.Gly192Asp						p.G192D	NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0539)		1	794	-			192			Helical; Name=4; (Potential).|Solcar 2.			Missense_Mutation	SNP	ENST00000579441.2	37	c.575G>A		.	.	.	.	.	.	.	.	.	.	C	19.57	3.852735	0.71719	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.80393	-1.37	1.22	1.22	0.21188	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	M	0.86953	2.85	0.52099	D	0.999946	P	0.44816	0.844	P	0.49140	0.601	T	0.82436	-0.0458	10	0.42905	T	0.14	.	8.3686	0.32402	0.0:1.0:0.0:0.0	.	192	Q3SY17	MCAR2_HUMAN	D	202;192	ENSP00000372612:G202D	ENSP00000372612:G202D	G	-	2	0	MCART2	27594048	1.000000	0.71417	0.155000	0.22561	0.940000	0.58332	4.925000	0.63425	0.992000	0.38840	0.505000	0.49811	GGC		0.478	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		10	68	0	0	0	0.008291	0	10	68				
ZNF271	10778	broad.mit.edu	37	18	32886980	32886980	+	RNA	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:32886980T>C	ENST00000399070.3	+	0	1374					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						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.F131S(1)		large_intestine(3)|lung(9)	12						ATCACAGAATTCATACAGGTG	0.383																																							uc002kyq.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TTC>TCC		SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA;							62.0	65.0	64.0					18																	32886980		2203	4300	6503			10778							g.chr18:32886980T>C	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886980T>C						ZNF271_uc002kyp.3_Missense_Mutation_p.F131S|ZNF271_uc002kyr.3_Missense_Mutation_p.F131S	p.F131S	NR_024565						3	1384	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	Missense_Mutation	SNP	ENST00000399070.3	37	c.392T>C																																																																																					0.383	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		4	63	0	0	0	0.009096	0	4	63				
EPG5	57724	broad.mit.edu	37	18	43462310	43462310	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:43462310T>G	ENST00000282041.5	-	31	5481	c.5447A>C	c.(5446-5448)aAg>aCg	p.K1816T	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1816					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.K1816T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTCCAGTGCTTACAGAAAAG	0.423																																							uc002lbm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(5446-5448)AAG>ACG		hypothetical protein LOC57724							107.0	103.0	104.0					18																	43462310		1886	4102	5988	SO:0001583	missense	57724				autophagy			g.chr18:43462310T>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5447A>C	18.37:g.43462310T>G	ENSP00000282041:p.Lys1816Thr					KIAA1632_uc010xcq.1_Missense_Mutation_p.K370T|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.K691T	p.K1816T	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			31	5547	-			1816					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.5447A>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677709	0.68042	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.12147	2.71	5.45	5.45	0.79879	.	.	.	.	.	T	0.33527	0.0866	L	0.56769	1.78	0.54753	D	0.999985	D	0.76494	0.999	D	0.69479	0.964	T	0.03662	-1.1015	9	0.72032	D	0.01	-16.2931	15.5079	0.75757	0.0:0.0:0.0:1.0	.	1816	Q9HCE0	EPG5_HUMAN	T	1816;691	ENSP00000282041:K1816T	ENSP00000282041:K1816T	K	-	2	0	EPG5	41716308	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.998000	0.70653	2.059000	0.61396	0.533000	0.62120	AAG		0.423	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		22	39	0	0	0	0.00278	0	22	39				
EPG5	57724	broad.mit.edu	37	18	43534828	43534828	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:43534828T>G	ENST00000282041.5	-	2	574	c.540A>C	c.(538-540)gaA>gaC	p.E180D		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	180					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.E180D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTGTTTGTCTTCTTTACTAT	0.418																																							uc002lbm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GAA>GAC		hypothetical protein LOC57724							52.0	52.0	52.0					18																	43534828		1917	4123	6040	SO:0001583	missense	57724				autophagy			g.chr18:43534828T>G	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.540A>C	18.37:g.43534828T>G	ENSP00000282041:p.Glu180Asp					KIAA1632_uc002lbo.1_Missense_Mutation_p.E180D	p.E180D	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			2	640	-			180					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.540A>C	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	T	7.760	0.705090	0.15172	.	.	ENSG00000152223	ENST00000282041	T	0.10288	2.89	4.96	3.74	0.42951	.	0.757647	0.13032	N	0.419204	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.26121	-1.0112	10	0.33940	T	0.23	-8.2619	4.8708	0.13631	0.2945:0.0:0.143:0.5625	.	180;180	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	D	180	ENSP00000282041:E180D	ENSP00000282041:E180D	E	-	3	2	EPG5	41788826	0.029000	0.19370	0.780000	0.31762	0.163000	0.22366	0.243000	0.18106	2.068000	0.61886	0.460000	0.39030	GAA		0.418	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		7	57	0	0	0	0.001984	0	7	57				
MYO5B	4645	broad.mit.edu	37	18	47462675	47462675	+	Silent	SNP	C	C	G	rs180849030	byFrequency	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:47462675C>G	ENST00000285039.7	-	16	2249	c.1950G>C	c.(1948-1950)acG>acC	p.T650T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	650	Actin-binding. {ECO:0000255}.|Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.T650T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTGAGGTGTCGTGGCATTCA	0.517																																							uc002leb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(1948-1950)ACG>ACC		myosin VB							97.0	100.0	99.0					18																	47462675		2083	4237	6320	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47462675C>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1950G>C	18.37:g.47462675C>G						MYO5B_uc002lec.1_Silent_p.T649T	p.T650T	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	16	2238	-			650			Myosin head-like.|Actin-binding (Potential).		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.1950G>C	CCDS42436.1																																																																																				0.517	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			2	6	0	0	0	0.004672	0	2	6				
SERPINB5	5268	broad.mit.edu	37	18	61160237	61160237	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:61160237T>G	ENST00000382771.4	+	5	768	c.476T>G	c.(475-477)aTc>aGc	p.I159S	SERPINB5_ENST00000489441.1_Missense_Mutation_p.I159S|SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	159					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I159S(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						CAGACCAAAATCCTTGTGGTT	0.388																																							uc002liz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)ATC>AGC		serine (or cysteine) proteinase inhibitor, clade							169.0	162.0	164.0					18																	61160237		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61160237T>G	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.476T>G	18.37:g.61160237T>G	ENSP00000372221:p.Ile159Ser					SERPINB5_uc002liy.2_Missense_Mutation_p.I159S	p.I159S	NM_002639	NP_002630	P36952	SPB5_HUMAN			5	618	+			159					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.476T>G	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410523	0.83340	.	.	ENSG00000206075	ENST00000382771	D	0.84516	-1.86	6.05	6.05	0.98169	Serpin domain (3);	0.208413	0.42172	D	0.000741	D	0.91489	0.7313	M	0.68952	2.095	0.58432	D	0.999998	D;D	0.57571	0.98;0.974	D;D	0.73708	0.981;0.919	D	0.92169	0.5742	10	0.87932	D	0	.	16.2615	0.82549	0.0:0.0:0.0:1.0	.	159;159	P36952;P36952-2	SPB5_HUMAN;.	S	159	ENSP00000372221:I159S	ENSP00000372221:I159S	I	+	2	0	SERPINB5	59311217	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.077000	0.71275	2.323000	0.78572	0.533000	0.62120	ATC		0.388	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		6	223	0	0	0	0.001168	0	6	223				
KLF16	83855	broad.mit.edu	37	19	1854696	1854696	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:1854696A>G	ENST00000250916.4	-	2	591	c.521T>C	c.(520-522)cTg>cCg	p.L174P	KLF16_ENST00000592313.1_5'UTR|CTB-31O20.6_ENST00000592884.1_RNA	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	174					dopamine receptor signaling pathway (GO:0007212)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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.L174P(1)		lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGGGCCAGCTCGTCGGA	0.672																																							uc002luc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(520-522)CTG>CCG		BTE-binding protein 4							37.0	41.0	40.0					19																	1854696		2203	4300	6503	SO:0001583	missense	83855					nucleus	DNA binding|zinc ion binding	g.chr19:1854696A>G	AF327440	CCDS12075.1	19p13.3	2013-10-15			ENSG00000129911	ENSG00000129911		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16857	protein-coding gene	gene with protein product		606139				11438660	Standard	NM_031918		Approved	NSLP2, BTEB4, DRRF	uc002luc.3	Q9BXK1	OTTHUMG00000179994	ENST00000250916.4:c.521T>C	19.37:g.1854696A>G	ENSP00000250916:p.Leu174Pro					KLF16_uc010xgt.1_RNA	p.L174P	NM_031918	NP_114124	Q9BXK1	KLF16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	589	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	174			C2H2-type 2.			Missense_Mutation	SNP	ENST00000250916.4	37	c.521T>C	CCDS12075.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121469	0.77436	.	.	ENSG00000129911	ENST00000250916;ENST00000541015	T;T	0.53857	0.6;0.6	3.31	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74168	0.3681	M	0.89658	3.05	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.78084	-0.2342	9	0.87932	D	0	.	9.7206	0.40300	1.0:0.0:0.0:0.0	.	174	Q9BXK1	KLF16_HUMAN	P	174	ENSP00000250916:L174P;ENSP00000439973:L174P	ENSP00000250916:L174P	L	-	2	0	KLF16	1805696	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	8.926000	0.92839	1.388000	0.46506	0.386000	0.25728	CTG		0.672	KLF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449214.1			4	26	0	0	0	0.006214	0	4	26				
CYP4F8	11283	broad.mit.edu	37	19	15739364	15739364	+	RNA	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:15739364T>G	ENST00000441682.2	+	0	1334							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F424V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CATCAACATCTTCGCAATCCA	0.622																																							uc002nbi.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1273-1275)TTC>GTC		cytochrome P450, family 4, subfamily F,							206.0	223.0	217.0					19																	15739364		2129	4246	6375			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15739364T>G	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739364T>G						CYP4F8_uc010xoj.1_Missense_Mutation_p.F237V	p.F425V	NM_007253	NP_009184	P98187	CP4F8_HUMAN			13	1337	+			425						Missense_Mutation	SNP	ENST00000441682.2	37	c.1273T>G		.	.	.	.	.	.	.	.	.	.	.	14.58	2.578462	0.46006	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.52	1.32	0.21799	.	0.073622	0.56097	U	0.000034	T	0.54515	0.1863	.	.	.	0.37828	D	0.928605	B;B	0.31931	0.347;0.067	P;B	0.45449	0.481;0.119	T	0.62651	-0.6809	7	0.72032	D	0.01	.	6.9986	0.24797	0.3639:0.0:0.0:0.636	.	237;425	B4DU85;P98187	.;CP4F8_HUMAN	V	424;237	.	ENSP00000314398:F237V	F	+	1	0	CYP4F8	15600364	0.988000	0.35896	0.000000	0.03702	0.004000	0.04260	2.943000	0.49026	0.006000	0.14734	-0.403000	0.06358	TTC		0.622	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		30	206	0	0	0	0.002445	0	30	206				
PIK3R2	5296	broad.mit.edu	37	19	18279608	18279608	+	Silent	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:18279608C>T	ENST00000593731.1	+	15	2441	c.1881C>T	c.(1879-1881)atC>atT	p.I627I	PIK3R2_ENST00000222254.8_Silent_p.I627I			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	627	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.I627I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	TGGGCAAGATCAACCGCACGC	0.667											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002nia.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(1879-1881)ATC>ATT		phosphoinositide-3-kinase, regulatory subunit 2							74.0	48.0	57.0					19																	18279608		2203	4300	6503	SO:0001819	synonymous_variant	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18279608C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1881C>T	19.37:g.18279608C>T			OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	724	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.I627I	NM_005027	NP_005018	O00459	P85B_HUMAN			15	2393	+			627			SH2 2.		Q5EAT5|Q9UPH9	Silent	SNP	ENST00000593731.1	37	c.1881C>T	CCDS12371.1																																																																																				0.667	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		3	11	0	0	0	0.004672	0	3	11				
NCAN	1463	broad.mit.edu	37	19	19338102	19338102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:19338102G>A	ENST00000252575.6	+	8	1772	c.1673G>A	c.(1672-1674)gGc>gAc	p.G558D	NCAN_ENST00000538881.1_Missense_Mutation_p.G9D	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	558					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G558D(1)|p.G572D(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	TCTGCTGGTGGCAAGAGCTCC	0.607																																							uc002nlz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1672-1674)GGC>GAC		chondroitin sulfate proteoglycan 3 precursor							85.0	92.0	90.0					19																	19338102		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338102G>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1673G>A	19.37:g.19338102G>A	ENSP00000252575:p.Gly558Asp					NCAN_uc010ecc.1_Missense_Mutation_p.G122D	p.G558D	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	1772	+			558					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1673G>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056402	0.36277	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.87103	-1.77;-2.21	4.07	-0.968	0.10313	.	0.436377	0.17030	N	0.189748	T	0.71685	0.3369	N	0.24115	0.695	0.20489	N	0.999891	B;B	0.24483	0.104;0.031	B;B	0.19666	0.026;0.014	T	0.57590	-0.7785	10	0.35671	T	0.21	.	2.8261	0.05485	0.2257:0.0:0.388:0.3863	.	572;558	Q4LE67;O14594	.;NCAN_HUMAN	D	572;558;9	ENSP00000252575:G558D;ENSP00000442202:G9D	ENSP00000252575:G558D	G	+	2	0	NCAN	19199102	0.010000	0.17322	0.991000	0.47740	0.321000	0.28281	0.125000	0.15749	0.122000	0.18314	0.462000	0.41574	GGC		0.607	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		8	98	0	0	0	0.004482	0	8	98				
PSG2	5670	broad.mit.edu	37	19	43576000	43576000	+	Silent	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:43576000A>G	ENST00000406487.1	-	4	914	c.816T>C	c.(814-816)tcT>tcC	p.S272S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	272	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S272S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TAATTGTCCAAGAATACTGTG	0.443																																							uc002ovr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(814-816)TCT>TCC		pregnancy specific beta-1-glycoprotein 2							183.0	194.0	190.0					19																	43576000		2202	4299	6501	SO:0001819	synonymous_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576000A>G		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.816T>C	19.37:g.43576000A>G						PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.S272S|PSG2_uc010eiq.1_Silent_p.S272S|PSG2_uc002ovs.3_Silent_p.S272S|PSG2_uc002ovt.3_Silent_p.S272S	p.S272S	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	909	-		Prostate(69;0.00682)	272			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	c.816T>C	CCDS12616.1																																																																																				0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		51	55	0	0	0	0.00361	0	51	55				
PSG2	5670	broad.mit.edu	37	19	43576051	43576051	+	Missense_Mutation	SNP	A	A	C	rs1058095		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:43576051A>C	ENST00000406487.1	-	4	863	c.765T>G	c.(763-765)gaT>gaG	p.D255E		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	255	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D255E(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGTAGAGGTTATCTCCTGAAC	0.458																																							uc002ovr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(763-765)GAT>GAG		pregnancy specific beta-1-glycoprotein 2							176.0	186.0	183.0					19																	43576051		2203	4299	6502	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576051A>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.765T>G	19.37:g.43576051A>C	ENSP00000385706:p.Asp255Glu					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.D255E|PSG2_uc010eiq.1_Missense_Mutation_p.D255E|PSG2_uc002ovs.3_Missense_Mutation_p.D255E|PSG2_uc002ovt.3_Missense_Mutation_p.D255E	p.D255E	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	858	-		Prostate(69;0.00682)	255			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.765T>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.073283	0.00379	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.71103	-0.54	1.26	-0.119	0.13543	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29524	0.0736	N	0.01128	-1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17837	-1.0356	9	0.02654	T	1	.	2.1523	0.03803	0.2865:0.0:0.2908:0.4227	rs1058095;rs3207964;rs16976426;rs1058095	255;255	B5MCM8;P11465	.;PSG2_HUMAN	E	255	ENSP00000385706:D255E	ENSP00000332984:D255E	D	-	3	2	PSG2	48267891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.432000	0.02430	-1.339000	0.02230	-0.828000	0.03084	GAT		0.458	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		62	47	0	0	0	0.00361	0	62	47				
SPHK2	56848	broad.mit.edu	37	19	49132515	49132515	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:49132515T>C	ENST00000245222.4	+	7	1816	c.1450T>C	c.(1450-1452)Tca>Cca	p.S484P	SPHK2_ENST00000598088.1_Missense_Mutation_p.S484P|SPHK2_ENST00000599029.1_Missense_Mutation_p.S448P|SPHK2_ENST00000599748.1_Missense_Mutation_p.S448P|SPHK2_ENST00000443164.1_Missense_Mutation_p.S546P|SPHK2_ENST00000600537.1_Missense_Mutation_p.S425P|SPHK2_ENST00000340932.3_Missense_Mutation_p.S446P	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	484					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.S484P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGCTCTACACTCACCCGTCTC	0.697																																							uc002pjr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1450-1452)TCA>CCA		sphingosine kinase 2							57.0	73.0	67.0					19																	49132515		2203	4300	6503	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132515T>C	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1450T>C	19.37:g.49132515T>C	ENSP00000245222:p.Ser484Pro					SPHK2_uc010xzt.1_Missense_Mutation_p.S425P|SPHK2_uc002pjs.2_Missense_Mutation_p.S484P|SPHK2_uc002pjt.2_Missense_Mutation_p.S278P|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.S448P|SPHK2_uc002pjw.2_Missense_Mutation_p.S546P	p.S484P	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	1816	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	484					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1450T>C	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.070193	0.55539	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.27256	1.96;1.73;1.68	4.48	3.46	0.39613	.	0.119263	0.34200	N	0.004163	T	0.25419	0.0618	N	0.08118	0	0.35382	D	0.789994	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.963;0.991;0.963	T	0.29427	-1.0012	10	0.48119	T	0.1	-27.297	7.6923	0.28575	0.0:0.1034:0.0:0.8965	.	425;546;484	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	P	484;457;446;546	ENSP00000245222:S484P;ENSP00000341091:S446P;ENSP00000413369:S546P	ENSP00000245222:S484P	S	+	1	0	SPHK2	53824327	0.001000	0.12720	0.028000	0.17463	0.438000	0.31896	0.579000	0.23788	1.962000	0.57031	0.459000	0.35465	TCA		0.697	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			8	91	0	0	0	0.008291	0	8	91				
LHB	3972	broad.mit.edu	37	19	49519935	49519935	+	Missense_Mutation	SNP	C	C	T	rs146354951	byFrequency	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:49519935C>T	ENST00000221421.2	-	2	51	c.52G>A	c.(52-54)Gca>Aca	p.A18T	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	18			A -> T (more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775). {ECO:0000269|PubMed:11870227}.		cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)	p.A18T(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GATGCCCATGCCCCGCCCATG	0.647													C|||	39	0.00778754	0.0287	0.0014	5008	,	,		16431	0.0		0.0	False		,,,				2504	0.0						uc002plt.2		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM022419	LHB	M	rs146354951	c.(52-54)GCA>ACA		luteinizing hormone beta subunit precursor	Lutropin alfa(DB00044)|Menotropins(DB00032)	C	THR/ALA	91,4315	72.0+/-110.0	0,91,2112	80.0	67.0	72.0		52	1.3	0.1	19	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	no	missense	LHB	NM_000894.2	58	0,93,6410	TT,TC,CC		0.0233,2.0654,0.7151	benign	18/142	49519935	93,12913	2203	4300	6503	SO:0001583	missense	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49519935C>T		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.52G>A	19.37:g.49519935C>T	ENSP00000221421:p.Ala18Thr						p.A18T	NM_000894	NP_000885	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	61	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	18					Q9UDI0	Missense_Mutation	SNP	ENST00000221421.2	37	c.52G>A	CCDS12748.1	.	.	.	.	.	.	.	.	.	.	C	2.416	-0.334136	0.05278	0.020654	2.33E-4	ENSG00000104826	ENST00000221421;ENST00000391870	T	0.50277	0.75	3.62	1.28	0.21552	.	0.714995	0.12676	N	0.448353	T	0.15782	0.0380	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.09640	-1.0665	10	0.27082	T	0.32	-23.5242	4.0924	0.09975	0.2284:0.6476:0.0:0.124	.	18	P01229	LSHB_HUMAN	T	18;34	ENSP00000221421:A18T	ENSP00000221421:A18T	A	-	1	0	LHB	54211747	0.003000	0.15002	0.061000	0.19648	0.011000	0.07611	0.550000	0.23345	0.900000	0.36469	-0.380000	0.06706	GCA		0.647	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894		3	45	0	0	0	0.004672	0	3	45				
APOB	338	broad.mit.edu	37	2	21233338	21233338	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:21233338T>G	ENST00000233242.1	-	26	6529	c.6402A>C	c.(6400-6402)caA>caC	p.Q2134H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2134	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.Q2134H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGTGAAACTTGTCTCTCCC	0.343																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6400-6402)CAA>CAC		apolipoprotein B precursor	Atorvastatin(DB01076)						68.0	67.0	68.0					2																	21233338		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233338T>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6402A>C	2.37:g.21233338T>G	ENSP00000233242:p.Gln2134His						p.Q2134H	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6530	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2134			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6402A>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	10.07	1.249299	0.22880	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00768	5.72	5.65	3.17	0.36434	.	0.386984	0.22633	N	0.057553	T	0.01061	0.0035	M	0.70595	2.14	0.30899	N	0.72949	B	0.02656	0.0	B	0.04013	0.001	T	0.33420	-0.9869	10	0.52906	T	0.07	.	1.9812	0.03426	0.1342:0.1367:0.1402:0.5889	.	2134	P04114	APOB_HUMAN	H	2134	ENSP00000233242:Q2134H	ENSP00000233242:Q2134H	Q	-	3	2	APOB	21086843	0.829000	0.29322	0.983000	0.44433	0.815000	0.46073	0.231000	0.17872	0.363000	0.24346	0.459000	0.35465	CAA		0.343	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	39	0	0	0	0.000602	0	5	39				
SRBD1	55133	broad.mit.edu	37	2	45778344	45778344	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:45778344C>T	ENST00000263736.4	-	12	1657	c.1595G>A	c.(1594-1596)aGc>aAc	p.S532N	SRBD1_ENST00000535761.1_Missense_Mutation_p.S51N	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	532					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.S532N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGGAACAGGGCTTGTTAAAAG	0.393																																							uc002rus.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1594-1596)AGC>AAC		S1 RNA binding domain 1							87.0	83.0	84.0					2																	45778344		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45778344C>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1595G>A	2.37:g.45778344C>T	ENSP00000263736:p.Ser532Asn					SRBD1_uc010yoc.1_Missense_Mutation_p.S51N	p.S532N	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		12	1671	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	532					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1595G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974179	0.53720	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.44881	0.91;0.91	5.65	4.78	0.61160	Tex-like domain (1);	0.189144	0.56097	N	0.000024	T	0.44644	0.1303	M	0.78637	2.42	0.36805	D	0.885598	B	0.06786	0.001	B	0.06405	0.002	T	0.52419	-0.8578	10	0.56958	D	0.05	.	11.0371	0.47808	0.0:0.8581:0.0:0.1419	.	532	Q8N5C6	SRBD1_HUMAN	N	532;51	ENSP00000263736:S532N;ENSP00000441272:S51N	ENSP00000263736:S532N	S	-	2	0	SRBD1	45631848	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.352000	0.44080	1.536000	0.49237	0.650000	0.86243	AGC		0.393	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		5	43	0	0	0	0.000602	0	5	43				
ANTXR1	84168	broad.mit.edu	37	2	69330049	69330049	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:69330049A>C	ENST00000303714.4	+	10	1101	c.779A>C	c.(778-780)aAg>aCg	p.K260T	ANTXR1_ENST00000409349.3_Missense_Mutation_p.K260T|MIR3126_ENST00000577443.1_RNA|ANTXR1_ENST00000409829.3_Missense_Mutation_p.K260T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	260					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)	p.K260T(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGCAGCTTCAAGATCAATGAC	0.493									Familial Infantile Hemangioma																														uc002sfg.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(778-780)AAG>ACG		anthrax toxin receptor 1 isoform 1 precursor							198.0	190.0	192.0					2																	69330049		2203	4300	6503	SO:0001583	missense	84168	Familial_Infantile_Hemangioma	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	g.chr2:69330049A>C	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.779A>C	2.37:g.69330049A>C	ENSP00000301945:p.Lys260Thr					ANTXR1_uc002sfe.2_Missense_Mutation_p.K260T|ANTXR1_uc002sff.2_Missense_Mutation_p.K260T|ANTXR1_uc002sfd.2_Missense_Mutation_p.K260T|hsa-mir-3126|MI0014143_5'Flank	p.K260T	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN			10	1135	+			260			Extracellular (Potential).		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	c.779A>C	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	A	15.41	2.823897	0.50739	.	.	ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349	D;D;D	0.86164	-2.08;-2.08;-2.08	5.87	3.27	0.37495	Anthrax toxin receptor, extracellular (1);	0.090436	0.64402	D	0.000001	D	0.86167	0.5868	L	0.43646	1.37	0.42926	D	0.994309	D;B;D;D	0.58268	0.978;0.004;0.973;0.982	P;B;P;P	0.58660	0.832;0.007;0.843;0.792	T	0.80674	-0.1277	10	0.12430	T	0.62	-17.7239	9.0584	0.36419	0.8357:0.0:0.1643:0.0	.	260;260;260;260	Q9H6X2;Q9H6X2-2;Q9H6X2-4;Q9H6X2-3	ANTR1_HUMAN;.;.;.	T	260	ENSP00000301945:K260T;ENSP00000387058:K260T;ENSP00000386494:K260T	ENSP00000301945:K260T	K	+	2	0	ANTXR1	69183553	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.928000	0.28831	0.471000	0.27319	-0.274000	0.10170	AAG		0.493	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2	NM_032208		61	130	0	0	0	0.00361	0	61	130				
RETSAT	54884	broad.mit.edu	37	2	85570424	85570424	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:85570424A>C	ENST00000295802.4	-	11	1886	c.1774T>G	c.(1774-1776)Ttg>Gtg	p.L592V	RETSAT_ENST00000475624.2_5'Flank|RETSAT_ENST00000457495.2_Missense_Mutation_p.L531V|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	592					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)	p.L592V(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCTGAGTACAAGTTCCGCTTC	0.537																																							uc002spd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1774-1776)TTG>GTG		all-trans-13,14-dihydroretinol saturase	Vitamin A(DB00162)						91.0	95.0	94.0					2																	85570424		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85570424A>C	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1774T>G	2.37:g.85570424A>C	ENSP00000295802:p.Leu592Val					RETSAT_uc010fge.2_RNA|RETSAT_uc010ysm.1_Missense_Mutation_p.L531V|RETSAT_uc010fgf.2_Missense_Mutation_p.L383V	p.L592V	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN			11	1965	-			592					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1774T>G	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	A	7.984	0.751910	0.15778	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.26810	1.73;1.71	5.02	-10.0	0.00425	.	0.159120	0.40728	N	0.001029	T	0.15305	0.0369	L	0.47716	1.5	0.80722	D	1	B;B;B	0.18461	0.016;0.016;0.028	B;B;B	0.20955	0.017;0.026;0.032	T	0.43734	-0.9373	10	0.19590	T	0.45	-3.2249	11.8112	0.52183	0.1192:0.1704:0.6261:0.0842	.	531;531;592	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	V	592;531	ENSP00000295802:L592V;ENSP00000405040:L531V	ENSP00000295802:L592V	L	-	1	2	RETSAT	85423935	0.000000	0.05858	0.055000	0.19348	0.693000	0.40251	-3.140000	0.00586	-3.192000	0.00219	-0.379000	0.06801	TTG		0.537	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		20	43	0	0	0	0.010504	0	20	43				
HS6ST1	9394	broad.mit.edu	37	2	129025897	129025897	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:129025897A>G	ENST00000259241.6	-	2	1088	c.1075T>C	c.(1075-1077)Tac>Cac	p.Y359H		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	359					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.Y359H(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGTACTGGTAGCGCTGCTGG	0.662																																							uc002tpt.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1075-1077)TAC>CAC		heparan sulfate 6-O-sulfotransferase 1							65.0	73.0	70.0					2																	129025897		2160	4280	6440	SO:0001583	missense	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129025897A>G	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1075T>C	2.37:g.129025897A>G	ENSP00000259241:p.Tyr359His						p.Y359H	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	1109	-	Colorectal(110;0.1)		359			Potential.|Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	ENST00000259241.6	37	c.1075T>C	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.318132	0.81469	.	.	ENSG00000136720	ENST00000259241	D	0.83335	-1.71	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	M	0.71036	2.16	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.89556	0.3803	9	.	.	.	-6.9222	13.7599	0.62959	1.0:0.0:0.0:0.0	.	359	O60243	H6ST1_HUMAN	H	359	ENSP00000259241:Y359H	.	Y	-	1	0	HS6ST1	128742367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.087000	0.76893	1.707000	0.51288	0.379000	0.24179	TAC		0.662	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		18	54	0	0	0	0.007413	0	18	54				
LCT	3938	broad.mit.edu	37	2	136581471	136581471	+	Splice_Site	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:136581471C>T	ENST00000264162.2	-	4	917	c.907G>A	c.(907-909)Gcc>Acc	p.A303T	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	303	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.A303T(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCCCACTCACCTTCAAAAAGG	0.502																																							uc002tuu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(907-909)GCC>ACC		lactase-phlorizin hydrolase preproprotein							86.0	80.0	82.0					2																	136581471		2203	4300	6503	SO:0001630	splice_region_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136581471C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.907+1G>A	2.37:g.136581471C>T							p.A303T	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	4	918	-			303			Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.907G>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388975	0.42308	.	.	ENSG00000115850	ENST00000264162	T	0.29655	1.56	5.24	5.24	0.73138	.	0.352416	0.27315	N	0.019940	T	0.30572	0.0769	L	0.59436	1.845	0.35845	D	0.826308	B	0.31153	0.31	B	0.29267	0.1	T	0.29336	-1.0015	9	.	.	.	-24.1461	14.1921	0.65644	0.0:1.0:0.0:0.0	.	303	P09848	LPH_HUMAN	T	303	ENSP00000264162:A303T	.	A	-	1	0	LCT	136297941	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	4.136000	0.58004	2.729000	0.93468	0.555000	0.69702	GCC		0.502	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	Missense_Mutation	9	32	0	0	0	0.008291	0	9	32				
SLC4A10	57282	broad.mit.edu	37	2	162696373	162696373	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:162696373T>G	ENST00000446997.1	+	4	445	c.352T>G	c.(352-354)Ttc>Gtc	p.F118V	SLC4A10_ENST00000421911.1_Missense_Mutation_p.F118V|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.F118V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.F118V|SLC4A10_ENST00000535165.1_Missense_Mutation_p.F118V|SLC4A10_ENST00000375514.5_Missense_Mutation_p.F129V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	118					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.F118V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCATGACCTTTTCACAGAACT	0.443																																							uc002ubx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(352-354)TTC>GTC		solute carrier family 4, sodium bicarbonate							139.0	141.0	140.0					2																	162696373		2121	4257	6378	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162696373T>G		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.352T>G	2.37:g.162696373T>G	ENSP00000393066:p.Phe118Val					SLC4A10_uc010fpa.1_Missense_Mutation_p.F130V|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.F118V|SLC4A10_uc010zcs.1_Missense_Mutation_p.F129V	p.F118V	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			4	536	+			118			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.352T>G	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	T	34	5.308229	0.95629	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.6	5.6	0.85130	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	M	0.89601	3.045	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.999;0.988;0.999;0.948	D	0.94065	0.7330	10	0.87932	D	0	.	15.7845	0.78291	0.0:0.0:0.0:1.0	.	129;118;118;118	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	V	129;118;118;118;118;118;118;118	ENSP00000364664:F129V;ENSP00000395797:F118V;ENSP00000437527:F118V;ENSP00000272716:F118V;ENSP00000393066:F118V;ENSP00000404486:F118V	ENSP00000272716:F118V	F	+	1	0	SLC4A10	162404619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.913000	0.87471	2.137000	0.66172	0.528000	0.53228	TTC		0.443	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		5	67	0	0	0	0.000602	0	5	67				
TTN	7273	broad.mit.edu	37	2	179572258	179572258	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:179572258A>C	ENST00000591111.1	-	98	28309	c.28085T>G	c.(28084-28086)aTt>aGt	p.I9362S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I9679S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I8435S|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13474					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I8435S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACCTTTAATGGTCACTTT	0.383																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	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.(25303-25305)ATT>AGT		titin isoform N2-A							110.0	94.0	99.0					2																	179572258		1921	4134	6055	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179572258A>C	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.28085T>G	2.37:g.179572258A>C	ENSP00000465570:p.Ile9362Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I5096S	p.I8435S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		97	25528	-			9362					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.25304T>G		.	.	.	.	.	.	.	.	.	.	A	14.63	2.591417	0.46214	.	.	ENSG00000155657	ENST00000342992	T	0.72394	-0.65	5.66	5.66	0.87406	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75206	0.3818	M	0.78801	2.425	0.80722	D	1	P	0.39352	0.669	B	0.41374	0.355	T	0.79351	-0.1839	9	0.87932	D	0	.	16.2026	0.82095	1.0:0.0:0.0:0.0	.	9362	Q8WZ42	TITIN_HUMAN	S	8435	ENSP00000343764:I8435S	ENSP00000343764:I8435S	I	-	2	0	TTN	179280503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.206000	0.95056	2.285000	0.76669	0.533000	0.62120	ATT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	17	0	0	0	0.000978	0	11	17				
CERKL	375298	broad.mit.edu	37	2	182403906	182403906	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:182403906T>G	ENST00000339098.5	-	13	1528	c.1529A>C	c.(1528-1530)gAg>gCg	p.E510A	CERKL_ENST00000410087.3_Missense_Mutation_p.E484A|CERKL_ENST00000374969.2_Missense_Mutation_p.E371A|CERKL_ENST00000409440.3_Missense_Mutation_p.E466A|CERKL_ENST00000374970.2_Missense_Mutation_p.E415A			Q49MI3	CERKL_HUMAN	ceramide kinase-like	510					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E484A(1)|p.E510A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCCTCCTCCTCCTCTGGATT	0.353																																							uc002unx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(1528-1530)GAG>GCG		ceramide kinase-like isoform b							138.0	133.0	135.0					2																	182403906		2203	4300	6503	SO:0001583	missense	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182403906T>G	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1529A>C	2.37:g.182403906T>G	ENSP00000341159:p.Glu510Ala					CERKL_uc002uny.2_Missense_Mutation_p.E484A|CERKL_uc010zfm.1_Missense_Mutation_p.E466A|CERKL_uc002unz.2_Missense_Mutation_p.E232A|CERKL_uc002uoa.2_Missense_Mutation_p.E415A|CERKL_uc002uob.2_Missense_Mutation_p.E232A|CERKL_uc002uoc.2_Missense_Mutation_p.E371A|CERKL_uc010frk.2_RNA|CERKL_uc002unw.2_Missense_Mutation_p.E80A	p.E510A	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		13	1630	-			510					B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.1529A>C	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	T	8.954	0.968898	0.18659	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.30182	2.27;2.53;1.54;2.53;1.54	5.66	1.86	0.25419	.	0.785665	0.12243	N	0.486311	T	0.30634	0.0771	M	0.77820	2.39	0.09310	N	1	P;P;B;P;P	0.43633	0.754;0.813;0.041;0.459;0.577	B;B;B;B;B	0.39152	0.184;0.292;0.027;0.173;0.184	T	0.14559	-1.0468	10	0.27082	T	0.32	.	6.7032	0.23236	0.0:0.1923:0.1225:0.6853	.	466;371;415;484;510	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	A	484;466;371;510;415	ENSP00000386725:E484A;ENSP00000387080:E466A;ENSP00000364108:E371A;ENSP00000341159:E510A;ENSP00000364109:E415A	ENSP00000341159:E510A	E	-	2	0	CERKL	182112151	0.973000	0.33851	0.001000	0.08648	0.003000	0.03518	2.726000	0.47302	0.474000	0.27392	-0.269000	0.10298	GAG		0.353	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			33	49	0	0	0	0.009535	0	33	49				
TMEM198	130612	broad.mit.edu	37	2	220412409	220412409	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:220412409G>A	ENST00000344458.2	+	4	933	c.348G>A	c.(346-348)gtG>gtA	p.V116V	RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Silent_p.V116V|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	116	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V116V(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCGCAGCGTGGGCCTCTTCC	0.701																																							uc002vme.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(346-348)GTG>GTA		transmembrane protein 198							49.0	49.0	49.0					2																	220412409		2202	4298	6500	SO:0001819	synonymous_variant	130612					integral to membrane		g.chr2:220412409G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.348G>A	2.37:g.220412409G>A						TMEM198_uc002vmf.2_Silent_p.V116V	p.V116V	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	933	+		Renal(207;0.0376)	116			Leu-rich.|Helical; (Potential).			Silent	SNP	ENST00000344458.2	37	c.348G>A	CCDS33385.1																																																																																				0.701	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		7	49	0	0	0	0.001984	0	7	49				
DEFB125	245938	broad.mit.edu	37	20	76828	76828	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr20:76828G>T	ENST00000382410.2	+	2	241	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	81					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.D81Y(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TATAACATTGGATTATAGTGA	0.368																																							uc002wcw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(241-243)GAT>TAT		defensin, beta 125 preproprotein							185.0	174.0	178.0					20																	76828		2203	4300	6503	SO:0001583	missense	245938				defense response to bacterium	extracellular region		g.chr20:76828G>T	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.241G>T	20.37:g.76828G>T	ENSP00000371847:p.Asp81Tyr						p.D81Y	NM_153325	NP_697020	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	241	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	81					A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	c.241G>T	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	11.91	1.778550	0.31502	.	.	ENSG00000178591	ENST00000382410	T	0.11930	2.73	3.38	0.227	0.15359	.	1.175680	0.06505	N	0.736905	T	0.17066	0.0410	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.60012	0.867	T	0.27434	-1.0074	10	0.52906	T	0.07	-3.9542	5.3802	0.16187	0.4195:0.0:0.5805:0.0	.	81	Q8N687	DB125_HUMAN	Y	81	ENSP00000371847:D81Y	ENSP00000371847:D81Y	D	+	1	0	DEFB125	24828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	0.082000	0.17018	0.655000	0.94253	GAT		0.368	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325		57	114	1	0	2.47907e-22	0.00361	2.66086e-22	57	114				
TIAM1	7074	broad.mit.edu	37	21	32492740	32492740	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr21:32492740A>C	ENST00000286827.3	-	29	5193	c.4722T>G	c.(4720-4722)atT>atG	p.I1574M	TIAM1_ENST00000541036.1_Missense_Mutation_p.I1514M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1574					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I1574M(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCTAACCCAAATGACTTCCT	0.562																																							uc002yow.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(4720-4722)ATT>ATG		T-cell lymphoma invasion and metastasis 1							81.0	74.0	76.0					21																	32492740		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32492740A>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4722T>G	21.37:g.32492740A>C	ENSP00000286827:p.Ile1574Met					TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.I1514M	p.I1574M	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			29	5194	-			1574					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4722T>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.585034	0.46110	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.53857	0.6;0.67	4.95	-0.194	0.13240	.	0.083040	0.44285	D	0.000461	T	0.55016	0.1894	L	0.47716	1.5	0.40498	D	0.980615	D;D	0.63880	0.99;0.993	P;P	0.62382	0.901;0.855	T	0.54397	-0.8300	10	0.87932	D	0	.	5.6787	0.17763	0.3141:0.0:0.5195:0.1664	.	1514;1574	F5GZ53;Q13009	.;TIAM1_HUMAN	M	1574;1514	ENSP00000286827:I1574M;ENSP00000441570:I1514M	ENSP00000286827:I1574M	I	-	3	3	TIAM1	31414611	0.266000	0.24112	0.998000	0.56505	0.839000	0.47603	-0.423000	0.07034	-0.045000	0.13468	-0.408000	0.06270	ATT		0.562	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		11	25	0	0	0	0.001855	0	11	25				
SLC37A1	54020	broad.mit.edu	37	21	43945903	43945903	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr21:43945903T>G	ENST00000352133.2	+	3	1056	c.74T>G	c.(73-75)tTt>tGt	p.F25C	SLC37A1_ENST00000398341.3_Missense_Mutation_p.F25C			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	25					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.F25C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GCCTTCATTTTTATTTTGACA	0.373																																							uc002zbi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(73-75)TTT>TGT		solute carrier family 37 member 1							155.0	136.0	143.0					21																	43945903		2203	4300	6503	SO:0001583	missense	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43945903T>G	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.74T>G	21.37:g.43945903T>G	ENSP00000344648:p.Phe25Cys					SLC37A1_uc002zbj.2_Missense_Mutation_p.F25C	p.F25C	NM_018964	NP_061837	P57057	GLPT_HUMAN			4	486	+			25			Helical; (Potential).		D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	c.74T>G	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932177	0.73442	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.60299	0.2;0.2	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	M	0.83118	2.625	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.80627	-0.1298	10	0.87932	D	0	-22.0437	13.3033	0.60338	0.0:0.0:0.0:1.0	.	25	P57057	GLPT_HUMAN	C	25	ENSP00000381383:F25C;ENSP00000344648:F25C	ENSP00000344648:F25C	F	+	2	0	SLC37A1	42818972	1.000000	0.71417	0.535000	0.28026	0.987000	0.75469	5.796000	0.69080	2.115000	0.64714	0.533000	0.62120	TTT		0.373	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			4	46	0	0	0	0.001168	0	4	46				
PWP2	5822	broad.mit.edu	37	21	45540652	45540652	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr21:45540652T>C	ENST00000291576.7	+	12	1605	c.1478T>C	c.(1477-1479)cTc>cCc	p.L493P		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	493					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.L493P(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACAGGCAGGCTCCTTGATGTA	0.632																																							uc002zeb.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1477-1479)CTC>CCC		PWP2 periodic tryptophan protein homolog							60.0	60.0	60.0					21																	45540652		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45540652T>C		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1478T>C	21.37:g.45540652T>C	ENSP00000291576:p.Leu493Pro						p.L493P	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	12	1568	+			493			WD 10.		B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1478T>C	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.039004	0.75617	.	.	ENSG00000241945	ENST00000291576	T	0.59502	0.26	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	N	0.12443	0.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.67098	-0.5756	10	0.87932	D	0	-8.7241	13.5724	0.61853	0.0:0.0:0.0:1.0	.	493	Q15269	PWP2_HUMAN	P	493	ENSP00000291576:L493P	ENSP00000291576:L493P	L	+	2	0	PWP2	44365080	1.000000	0.71417	0.967000	0.41034	0.815000	0.46073	7.071000	0.76770	2.009000	0.58944	0.533000	0.62120	CTC		0.632	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		13	41	0	0	0	0.00499	0	13	41				
MICAL3	57553	broad.mit.edu	37	22	18389374	18389374	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr22:18389374A>C	ENST00000441493.2	-	2	557	c.205T>G	c.(205-207)Ttg>Gtg	p.L69V	MICAL3_ENST00000585038.1_Missense_Mutation_p.L69V|MICAL3_ENST00000414725.2_Missense_Mutation_p.L69V|MICAL3_ENST00000400561.2_Missense_Mutation_p.L69V|MICAL3_ENST00000444520.1_Missense_Mutation_p.L69V|MICAL3_ENST00000207726.7_Missense_Mutation_p.L69V|MICAL3_ENST00000429452.1_Missense_Mutation_p.L69V|MICAL3_ENST00000383094.3_Missense_Mutation_p.L69V	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	69	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.L69V(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGTTTGTCCAATTTTGCCCAG	0.502																																							uc002zng.3		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(205-207)TTG>GTG		microtubule associated monoxygenase, calponin							168.0	154.0	158.0					22																	18389374		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18389374A>C	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.205T>G	22.37:g.18389374A>C	ENSP00000416015:p.Leu69Val					MICAL3_uc011agl.1_Missense_Mutation_p.L69V|MICAL3_uc002znh.2_Missense_Mutation_p.L69V|MICAL3_uc002znk.1_Missense_Mutation_p.L69V|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.2_Missense_Mutation_p.L69V|MICAL3_uc011agm.1_Missense_Mutation_p.L69V	p.L69V	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	2	558	-		all_epithelial(15;0.198)	69					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.205T>G	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711959	0.68730	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726;ENST00000424046	T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.47	0.361	0.16107	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	M	0.80616	2.505	0.39369	D	0.966057	D;B;D;D;D	0.71674	0.998;0.047;0.98;0.993;0.989	D;B;D;D;D	0.71184	0.972;0.012;0.934;0.936;0.957	T	0.58978	-0.7540	10	0.87932	D	0	.	10.2402	0.43308	0.5763:0.0:0.4237:0.0	.	69;69;69;69;69	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	V	69	ENSP00000416015:L69V;ENSP00000414846:L69V;ENSP00000383406:L69V;ENSP00000410315:L69V;ENSP00000391827:L69V;ENSP00000372574:L69V;ENSP00000207726:L69V;ENSP00000406193:L69V	ENSP00000207726:L69V	L	-	1	2	XXbac-B461K10.4;MICAL3	16769374	0.398000	0.25279	0.993000	0.49108	0.994000	0.84299	-0.206000	0.09398	-0.090000	0.12462	0.533000	0.62120	TTG		0.502	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			53	109	0	0	0	0.00361	0	53	109				
ZNF74	7625	broad.mit.edu	37	22	20754938	20754938	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr22:20754938A>C	ENST00000400451.2	+	3	651	c.137A>C	c.(136-138)aAg>aCg	p.K46T	ZNF74_ENST00000356671.5_Missense_Mutation_p.K46T|ZNF74_ENST00000357502.5_Missense_Mutation_p.Q51H|ZNF74_ENST00000403682.3_Missense_Mutation_p.Q17H|ZNF74_ENST00000405993.1_Missense_Mutation_p.K46T	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K46T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTGAGTTTCAAGGATGTGGCT	0.502																																							uc010gsm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(136-138)AAG>ACG		zinc finger protein 74							92.0	104.0	100.0					22																	20754938		2203	4300	6503	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20754938A>C	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.137A>C	22.37:g.20754938A>C	ENSP00000383301:p.Lys46Thr					ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Missense_Mutation_p.K46T|ZNF74_uc002zsi.2_5'UTR|ZNF74_uc010gsn.2_5'UTR	p.K46T	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	349	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	46			KRAB.		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.137A>C	CCDS42982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	8.916|8.916	0.959938|0.959938	0.18507|0.18507	.|.	.|.	ENSG00000185252|ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993|ENST00000403682;ENST00000357502	T;T;T|.	0.02258|.	4.37;4.37;4.37|.	3.37|3.37	2.33|2.33	0.28932|0.28932	Krueppel-associated box (4);|.	0.000000|.	0.36893|.	N|.	0.002343|.	T|T	0.41236|0.41236	0.1150|0.1150	L|L	0.46614|0.46614	1.455|1.455	0.22762|0.22762	N|N	0.998767|0.998767	B|.	0.33299|.	0.407|.	B|.	0.36989|.	0.238|.	T|T	0.33803|0.33803	-0.9854|-0.9854	10|6	0.27785|0.66056	T|D	0.31|0.02	.|.	7.2096|7.2096	0.25927|0.25927	0.8864:0.0:0.1136:0.0|0.8864:0.0:0.1136:0.0	.|.	46|.	Q16587|.	ZNF74_HUMAN|.	T|H	46|17;51	ENSP00000383301:K46T;ENSP00000349098:K46T;ENSP00000385855:K46T|.	ENSP00000349098:K46T|ENSP00000350101:Q51H	K|Q	+|+	2|3	0|2	ZNF74|ZNF74	19084938|19084938	0.911000|0.911000	0.30947|0.30947	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	1.166000|1.166000	0.31834|0.31834	0.661000|0.661000	0.30985|0.30985	-0.274000|-0.274000	0.10170|0.10170	AAG|CAA		0.502	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		15	45	0	0	0	0.004007	0	15	45				
EFHB	151651	broad.mit.edu	37	3	19921190	19921190	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:19921190T>G	ENST00000295824.9	-	13	2596	c.2435A>C	c.(2434-2436)gAg>gCg	p.E812A	EFHB_ENST00000344838.4_Missense_Mutation_p.E682A	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	812							calcium ion binding (GO:0005509)	p.E810A(1)|p.E812A(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTGATGTTCTCAACACAAAC	0.363																																							uc003cbl.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2434-2436)GAG>GCG		EF hand domain family, member B							228.0	205.0	213.0					3																	19921190		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19921190T>G	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2435A>C	3.37:g.19921190T>G	ENSP00000295824:p.Glu812Ala					EFHB_uc003cbm.2_Missense_Mutation_p.E682A	p.E812A	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			13	2631	-			812					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2435A>C	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.336634	0.81801	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.29655	2.93;1.56	5.57	5.57	0.84162	.	0.056553	0.64402	D	0.000002	T	0.53094	0.1775	M	0.62723	1.935	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	T	0.51028	-0.8757	9	.	.	.	-23.6604	15.7357	0.77842	0.0:0.0:0.0:1.0	.	682;812	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	A	812;682	ENSP00000295824:E812A;ENSP00000342263:E682A	.	E	-	2	0	EFHB	19896194	1.000000	0.71417	0.819000	0.32651	0.839000	0.47603	7.004000	0.76317	2.116000	0.64780	0.533000	0.62120	GAG		0.363	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		33	98	0	0	0	0.002836	0	33	98				
GOLGA4	2803	broad.mit.edu	37	3	37365668	37365668	+	Missense_Mutation	SNP	T	T	C	rs201080119		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:37365668T>C	ENST00000361924.2	+	14	2665	c.2291T>C	c.(2290-2292)cTc>cCc	p.L764P	GOLGA4_ENST00000356847.4_Missense_Mutation_p.L786P|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	764	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.L764P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTTGAGCTTCTCTTGAAGGAA	0.408																																							uc003cgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2290-2292)CTC>CCC		golgi autoantigen, golgin subfamily a, 4							73.0	73.0	73.0					3																	37365668		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37365668T>C	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2291T>C	3.37:g.37365668T>C	ENSP00000354486:p.Leu764Pro					GOLGA4_uc010hgr.1_Missense_Mutation_p.L325P|GOLGA4_uc003cgw.2_Missense_Mutation_p.L786P|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.L645P	p.L764P	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			14	2595	+			764			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.2291T>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741554	0.30865	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.29655	1.67;1.66;1.56	5.3	4.06	0.47325	.	0.000000	0.29558	N	0.011816	T	0.46619	0.1402	M	0.69823	2.125	0.52099	D	0.99994	D;D;D;D	0.76494	0.999;0.993;0.993;0.995	D;P;P;P	0.71656	0.974;0.878;0.878;0.891	T	0.38779	-0.9645	10	0.30854	T	0.27	.	6.3357	0.21294	0.1436:0.0834:0.0:0.773	.	764;764;786;764	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	P	764;786;325;635	ENSP00000354486:L764P;ENSP00000349305:L786P;ENSP00000405842:L635P	ENSP00000349305:L786P	L	+	2	0	GOLGA4	37340672	0.601000	0.26907	0.449000	0.26957	0.225000	0.24961	1.189000	0.32114	2.137000	0.66172	0.482000	0.46254	CTC		0.408	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		5	74	0	0	0	0.001168	0	5	74				
PARP3	10039	broad.mit.edu	37	3	51978834	51978834	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:51978834A>T	ENST00000417220.2	+	6	1030	c.542A>T	c.(541-543)cAg>cTg	p.Q181L	RRP9_ENST00000232888.6_5'Flank|PARP3_ENST00000431474.1_Missense_Mutation_p.Q181L|PARP3_ENST00000398755.3_Missense_Mutation_p.Q188L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	181					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q188L(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGCGGGTGCAGCCCTGCTCC	0.602																																							uc003dby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)CAG>CTG		poly (ADP-ribose) polymerase family, member 3							31.0	34.0	33.0					3																	51978834		2132	4256	6388	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978834A>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.542A>T	3.37:g.51978834A>T	ENSP00000395951:p.Gln181Leu					RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Missense_Mutation_p.Q188L	p.Q181L	NM_005485	NP_005476	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	913	+			181					Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.542A>T	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574025	0.45902	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.05513	3.57;3.57;3.56;3.43	5.01	-10.0	0.00425	Poly(ADP-ribose) polymerase, regulatory domain (1);	1.159480	0.06084	N	0.662478	T	0.04318	0.0119	N	0.25647	0.755	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.33317	-0.9873	10	0.25751	T	0.34	-3.1476	12.4844	0.55863	0.124:0.0:0.6156:0.2604	.	188;181	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	L	181;181;188;181	ENSP00000395951:Q181L;ENSP00000401511:Q181L;ENSP00000381740:Q188L;ENSP00000417625:Q181L	ENSP00000381740:Q188L	Q	+	2	0	PARP3	51953874	0.000000	0.05858	0.009000	0.14445	0.875000	0.50365	-1.668000	0.01959	-2.627000	0.00436	-0.912000	0.02778	CAG		0.602	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		7	14	0	0	0	0.00308	0	7	14				
SLC15A2	6565	broad.mit.edu	37	3	121641974	121641974	+	Missense_Mutation	SNP	C	C	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:121641974C>A	ENST00000489711.1	+	10	1343	c.955C>A	c.(955-957)Cag>Aag	p.Q319K	AC072031.1_ENST00000581491.1_RNA|SLC15A2_ENST00000295605.2_Missense_Mutation_p.Q288K	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	319					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.Q319K(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTGGATCAGCAGGTAAGAAT	0.458																																							uc003eep.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(955-957)CAG>AAG		peptide transporter 2 isoform a	Cefadroxil(DB01140)						148.0	149.0	149.0					3																	121641974		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121641974C>A	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.955C>A	3.37:g.121641974C>A	ENSP00000417085:p.Gln319Lys					SLC15A2_uc011bjn.1_Missense_Mutation_p.Q288K	p.Q319K	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	10	1108	+			319					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.955C>A	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971067	0.92919	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.58940	0.3;0.3	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	M	0.66439	2.03	0.80722	D	1	D;D	0.71674	0.972;0.998	P;D	0.67382	0.823;0.951	T	0.74372	-0.3687	10	0.56958	D	0.05	-8.761	17.6924	0.88272	0.0:1.0:0.0:0.0	.	288;319	B4E2A7;Q16348	.;S15A2_HUMAN	K	319;281;288	ENSP00000417085:Q319K;ENSP00000295605:Q288K	ENSP00000295605:Q288K	Q	+	1	0	SLC15A2	123124664	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.466000	0.66731	2.781000	0.95711	0.650000	0.86243	CAG		0.458	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		4	127	1	0	0.00909568	0.009096	0.00938721	4	127				
PLXND1	23129	broad.mit.edu	37	3	129305021	129305021	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:129305021T>C	ENST00000324093.4	-	4	1893	c.1715A>G	c.(1714-1716)gAg>gGg	p.E572G	PLXND1_ENST00000393239.1_Missense_Mutation_p.E572G	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	572					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.E572G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCACCGCGTCTCCAGGGCACA	0.701																																					Ovarian(97;366 1484 3738 22084 39045)	Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1714-1716)GAG>GGG		plexin D1 precursor							14.0	15.0	15.0					3																	129305021		2188	4281	6469	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129305021T>C	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.1715A>G	3.37:g.129305021T>C	ENSP00000317128:p.Glu572Gly						p.E572G	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			4	1815	-			572			Extracellular (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1715A>G	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382285	0.82792	.	.	ENSG00000004399	ENST00000324093;ENST00000393239;ENST00000505237	T;T;T	0.19105	2.17;2.17;2.17	5.13	5.13	0.70059	.	0.133396	0.53938	D	0.000060	T	0.54062	0.1835	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64343	-0.6430	10	0.62326	D	0.03	.	14.9402	0.70989	0.0:0.0:0.0:1.0	.	572	Q9Y4D7	PLXD1_HUMAN	G	572;572;135	ENSP00000317128:E572G;ENSP00000376931:E572G;ENSP00000426241:E135G	ENSP00000317128:E572G	E	-	2	0	PLXND1	130787711	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	2.739000	0.47409	1.935000	0.56089	0.459000	0.35465	GAG		0.701	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		4	6	0	0	0	0.001168	0	4	6				
ACAD11	84129	broad.mit.edu	37	3	132360968	132360968	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:132360968A>C	ENST00000264990.6	-	4	1356	c.385T>G	c.(385-387)Ttc>Gtc	p.F129V	ACAD11_ENST00000355458.3_Missense_Mutation_p.F129V|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.F129V	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	129					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)	p.F129V(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AAATCACGGAAGATTCGACCC	0.353																																							uc003eov.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)TTC>GTC		putative acyl-CoA dehydrogenase							100.0	94.0	96.0					3																	132360968		2203	4300	6503	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132360968A>C	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.385T>G	3.37:g.132360968A>C	ENSP00000264990:p.Phe129Val					ACAD11_uc003eoy.2_Missense_Mutation_p.F129V	p.F129V	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			4	765	-			129					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.385T>G	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414989	0.83449	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.27890	1.64;1.64;1.64	5.49	5.49	0.81192	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.54711	0.1875	M	0.68728	2.09	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.91635	0.887;0.999	T	0.56721	-0.7932	9	0.59425	D	0.04	.	15.873	0.79136	1.0:0.0:0.0:0.0	.	129;129	D6RDI8;Q709F0	.;ACD11_HUMAN	V	129	ENSP00000347636:F129V;ENSP00000264990:F129V;ENSP00000420907:F129V	ENSP00000264990:F129V	F	-	1	0	ACAD11	133843658	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.994000	0.88315	2.201000	0.70794	0.460000	0.39030	TTC		0.353	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		20	55	0	0	0	0.00333	0	20	55				
HPS3	84343	broad.mit.edu	37	3	148880568	148880568	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:148880568T>G	ENST00000296051.2	+	13	2524	c.2384T>G	c.(2383-2385)cTt>cGt	p.L795R	HPS3_ENST00000460120.1_Missense_Mutation_p.L630R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	795					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.L795R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GATGTGGTACTTCAGGAACTC	0.458									Hermansky-Pudlak syndrome																														uc003ewu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)	6						c.(2383-2385)CTT>CGT		Hermansky-Pudlak syndrome 3 protein							145.0	140.0	141.0					3																	148880568		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148880568T>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2384T>G	3.37:g.148880568T>G	ENSP00000296051:p.Leu795Arg					HPS3_uc011bnq.1_Missense_Mutation_p.L630R|HPS3_uc003ewv.1_RNA	p.L795R	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		13	2524	+			795					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.2384T>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525606	0.64860	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.68181	-0.31;-0.31	5.86	5.86	0.93980	.	0.056867	0.64402	D	0.000002	T	0.73923	0.3649	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.76977	-0.2759	10	0.72032	D	0.01	-12.6894	16.2555	0.82515	0.0:0.0:0.0:1.0	.	630;795	G5E9V4;Q969F9	.;HPS3_HUMAN	R	795;630	ENSP00000296051:L795R;ENSP00000418230:L630R	ENSP00000296051:L795R	L	+	2	0	HPS3	150363258	1.000000	0.71417	0.972000	0.41901	0.312000	0.27988	4.932000	0.63476	2.242000	0.73789	0.460000	0.39030	CTT		0.458	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383		28	62	0	0	0	0.009535	0	28	62				
TNFSF10	8743	broad.mit.edu	37	3	172224294	172224294	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:172224294A>C	ENST00000241261.2	-	5	956	c.834T>G	c.(832-834)ttT>ttG	p.F278L	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	278					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|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 release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.F278L(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGCCAACTAAAAAGGCCCCAA	0.363																																							uc003fid.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|lung(1)	5						c.(832-834)TTT>TTG		tumor necrosis factor (ligand) superfamily,							52.0	51.0	51.0					3																	172224294		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172224294A>C	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.834T>G	3.37:g.172224294A>C	ENSP00000241261:p.Phe278Leu					TNFSF10_uc003fie.2_3'UTR	p.F278L	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		5	929	-	Ovarian(172;0.00197)|Breast(254;0.158)		278			Extracellular (Potential).		A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.834T>G	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469969	0.43839	.	.	ENSG00000121858	ENST00000241261	D	0.95949	-3.86	5.68	3.27	0.37495	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.96996	0.9019	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96097	0.9066	10	0.72032	D	0.01	1.2552	6.5757	0.22564	0.7345:0.1369:0.1286:0.0	.	278	P50591	TNF10_HUMAN	L	278	ENSP00000241261:F278L	ENSP00000241261:F278L	F	-	3	2	TNFSF10	173706988	1.000000	0.71417	0.996000	0.52242	0.036000	0.12997	3.297000	0.51810	1.065000	0.40693	-0.438000	0.05819	TTT		0.363	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			4	75	0	0	0	0.009096	0	4	75				
WDR19	57728	broad.mit.edu	37	4	39201143	39201143	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:39201143A>C	ENST00000399820.3	+	6	606	c.452A>C	c.(451-453)aAt>aCt	p.N151T	WDR19_ENST00000506503.1_Missense_Mutation_p.N151T|WDR19_ENST00000288634.7_5'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	151					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.N151T(1)		large_intestine(1)	1						AATGCAGAAAATCTGCTTGCT	0.338																																							uc003gtv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(451-453)AAT>ACT		WD repeat domain 19							137.0	131.0	133.0					4																	39201143		1865	4099	5964	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39201143A>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.452A>C	4.37:g.39201143A>C	ENSP00000382717:p.Asn151Thr					WDR19_uc010ifl.1_Intron|WDR19_uc003gtu.1_Missense_Mutation_p.N151T|WDR19_uc011byi.1_5'UTR	p.N151T	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			6	606	+			151			WD 4.		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.452A>C	CCDS47042.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077594	0.76528	.	.	ENSG00000157796	ENST00000399820;ENST00000509560;ENST00000506503;ENST00000399836	T;T;T	0.31247	3.4;1.5;3.4	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.083919	0.85682	D	0.000000	T	0.58119	0.2100	M	0.84948	2.725	0.80722	D	1	D;D	0.65815	0.975;0.995	P;D	0.63283	0.777;0.913	T	0.65455	-0.6164	10	0.66056	D	0.02	-31.6547	15.5714	0.76341	1.0:0.0:0.0:0.0	.	151;151	Q8NEZ3;D6R9P6	WDR19_HUMAN;.	T	151;92;151;150	ENSP00000382717:N151T;ENSP00000426918:N92T;ENSP00000423491:N151T	ENSP00000382717:N151T	N	+	2	0	WDR19	38877538	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.227000	0.78070	2.094000	0.63399	0.383000	0.25322	AAT		0.338	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			14	48	0	0	0	0.004007	0	14	48				
EXOC1	55763	broad.mit.edu	37	4	56724547	56724547	+	Silent	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:56724547C>T	ENST00000381295.2	+	2	406	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	EXOC1_ENST00000346134.7_Silent_p.L20L|EXOC1_ENST00000349598.6_Silent_p.L20L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	20					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L20L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGATGAACGCCTGCTGAGCAT	0.363																																							uc003hbe.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6						c.(58-60)CTG>TTG		exocyst complex component 1 isoform 1							108.0	108.0	108.0					4																	56724547		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56724547C>T	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.58C>T	4.37:g.56724547C>T						EXOC1_uc003hbf.1_Silent_p.L20L|EXOC1_uc003hbg.1_Silent_p.L20L	p.L20L	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN			2	216	+	Glioma(25;0.08)|all_neural(26;0.101)		20					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.58C>T	CCDS3502.1																																																																																				0.363	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		44	83	0	0	0	0.00361	0	44	83				
REST	5978	broad.mit.edu	37	4	57797750	57797750	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:57797750T>G	ENST00000309042.7	+	4	3040	c.2726T>G	c.(2725-2727)cTt>cGt	p.L909R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	909					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L909R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTACCTGGTCTTGCTGCTAAT	0.428																																							uc003hch.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(2725-2727)CTT>CGT		RE1-silencing transcription factor							67.0	68.0	68.0					4																	57797750		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797750T>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2726T>G	4.37:g.57797750T>G	ENSP00000311816:p.Leu909Arg					REST_uc003hci.2_Missense_Mutation_p.L909R|REST_uc010ihf.2_Missense_Mutation_p.L583R	p.L909R	NM_005612	NP_005603	Q13127	REST_HUMAN			4	3073	+	Glioma(25;0.08)|all_neural(26;0.181)		909					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2726T>G	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.903099	0.52227	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.09445	2.98	5.32	-7.15	0.01521	.	1.251330	0.05982	N	0.644438	T	0.10637	0.0260	L	0.60455	1.87	0.09310	N	1	P;P	0.43701	0.815;0.531	B;B	0.43155	0.41;0.168	T	0.31888	-0.9927	10	0.59425	D	0.04	-0.1783	3.4957	0.07654	0.1052:0.3985:0.2144:0.282	.	886;909	F8WAN5;Q13127	.;REST_HUMAN	R	909;886	ENSP00000311816:L909R	ENSP00000311816:L909R	L	+	2	0	REST	57492507	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.494000	0.22467	-0.798000	0.04444	-1.155000	0.01812	CTT		0.428	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		3	74	0	0	0	0.004672	0	3	74				
UBA6	55236	broad.mit.edu	37	4	68506908	68506908	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:68506908G>A	ENST00000322244.5	-	18	1574	c.1515C>T	c.(1513-1515)aaC>aaT	p.N505N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	505					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)	p.N505N(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTCTATTTAAGTTGGATTTCT	0.279																																							uc003hdg.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1513-1515)AAC>AAT		ubiquitin-activating enzyme E1-like 2							163.0	187.0	179.0					4																	68506908		2203	4289	6492	SO:0001819	synonymous_variant	55236				protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68506908G>A	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1515C>T	4.37:g.68506908G>A						UBA6_uc003hdh.1_Silent_p.N31N	p.N505N	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN			18	1567	-			505					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.1515C>T	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	G	9.092	1.001877	0.19121	.	.	ENSG00000033178	ENST00000505673	.	.	.	5.74	3.06	0.35304	.	.	.	.	.	T	0.61413	0.2345	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55655	-0.8107	4	.	.	.	-19.6633	11.1483	0.48442	0.2019:0.0:0.7981:0.0	.	.	.	.	I	39	.	.	T	-	2	0	UBA6	68189503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.615000	0.36922	0.334000	0.23590	0.591000	0.81541	ACT		0.279	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227		69	136	0	0	0	0.00361	0	69	136				
RUFY3	22902	broad.mit.edu	37	4	71665865	71665865	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:71665865A>C	ENST00000381006.3	+	15	2144	c.1565A>C	c.(1564-1566)aAg>aCg	p.K522T	RUFY3_ENST00000512331.1_3'UTR|RUFY3_ENST00000502653.1_Missense_Mutation_p.K469T	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	0					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.K522T(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAGGATGGGAAGCACAAAATG	0.328																																							uc003hfr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1564-1566)AAG>ACG		RUN and FYVE domain containing 3 isoform 1							47.0	49.0	48.0					4																	71665865		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71665865A>C	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000381006.3:c.1565A>C	4.37:g.71665865A>C	ENSP00000370394:p.Lys522Thr					RUFY3_uc011cay.1_Missense_Mutation_p.K458T	p.K522T	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		15	2160	+		all_hematologic(202;0.248)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000381006.3	37	c.1565A>C	CCDS34001.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518602	0.44763	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.08634	3.08;3.07	5.41	3.04	0.35103	.	1.741500	0.05532	U	0.564231	T	0.07052	0.0179	.	.	.	0.80722	D	1	B	0.23249	0.082	B	0.21708	0.036	T	0.19647	-1.0299	9	0.25751	T	0.34	-11.1865	7.3238	0.26542	0.8296:0.0:0.1704:0.0	.	522	Q7L099-3	.	T	522;469	ENSP00000370394:K522T;ENSP00000425400:K469T	ENSP00000370394:K522T	K	+	2	0	RUFY3	71884729	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	2.173000	0.42472	0.908000	0.36671	0.460000	0.39030	AAG		0.328	RUFY3-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252162.1	NM_014961		9	26	0	0	0	0.008291	0	9	26				
RAP1GDS1	5910	broad.mit.edu	37	4	99337939	99337939	+	Silent	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:99337939T>C	ENST00000408927.3	+	8	920	c.807T>C	c.(805-807)tgT>tgC	p.C269C	RAP1GDS1_ENST00000380158.4_Silent_p.C221C|RAP1GDS1_ENST00000339360.5_Silent_p.C270C|RAP1GDS1_ENST00000264572.7_Silent_p.C178C|RAP1GDS1_ENST00000453712.2_Silent_p.C270C|RAP1GDS1_ENST00000408900.3_Silent_p.C220C	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	269					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.C270C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TAGTAGAGTGTCTACTAGAGA	0.363			T	NUP98	T-ALL																																		uc003htx.3		NA		Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(805-807)TGT>TGC		RAP1, GTP-GDP dissociation stimulator 1 isoform							107.0	103.0	104.0					4																	99337939		1841	4095	5936	SO:0001819	synonymous_variant	5910						binding|GTPase activator activity	g.chr4:99337939T>C		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.807T>C	4.37:g.99337939T>C						RAP1GDS1_uc003htw.3_Silent_p.C270C|RAP1GDS1_uc003htv.3_Silent_p.C270C|RAP1GDS1_uc003htz.3_Silent_p.C220C|RAP1GDS1_uc003hty.3_Silent_p.C221C|RAP1GDS1_uc003hua.3_Silent_p.C178C	p.C269C	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	8	997	+			269					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Silent	SNP	ENST00000408927.3	37	c.807T>C	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.280023	0.23392	.	.	ENSG00000138698	ENST00000509501	.	.	.	5.34	-3.29	0.05017	.	.	.	.	.	T	0.62466	0.2430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61955	-0.6956	4	.	.	.	-0.4424	12.9451	0.58367	0.0:0.5752:0.0:0.4248	.	.	.	.	P	79	.	.	S	+	1	0	RAP1GDS1	99556962	0.987000	0.35691	0.987000	0.45799	0.992000	0.81027	0.147000	0.16202	-0.399000	0.07668	-0.256000	0.11100	TCT		0.363	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		24	67	0	0	0	0.002299	0	24	67				
CCDC109B	55013	broad.mit.edu	37	4	110606516	110606516	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:110606516T>G	ENST00000394650.4	+	7	1059	c.926T>G	c.(925-927)cTt>cGt	p.L309R		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	309					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)	p.L221R(1)|p.L309R(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AAAGAAGACCTTGCTAAGGTA	0.378																																							uc011cfs.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(925-927)CTT>CGT		coiled-coil domain containing 109B							93.0	92.0	92.0					4																	110606516		2203	4300	6503	SO:0001583	missense	55013					integral to membrane		g.chr4:110606516T>G	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.926T>G	4.37:g.110606516T>G	ENSP00000378145:p.Leu309Arg						p.L309R	NM_017918	NP_060388	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	7	1065	+			309			Potential.		A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	c.926T>G	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.040607	0.75732	.	.	ENSG00000005059	ENST00000394650	T	0.27402	1.67	5.28	5.28	0.74379	.	0.134840	0.50627	D	0.000106	T	0.44052	0.1275	L	0.32530	0.975	0.46749	D	0.999185	D	0.69078	0.997	D	0.66847	0.947	T	0.42207	-0.9465	10	0.72032	D	0.01	-6.6571	15.1973	0.73104	0.0:0.0:0.0:1.0	.	309	Q9NWR8	C109B_HUMAN	R	309	ENSP00000378145:L309R	ENSP00000378145:L309R	L	+	2	0	CCDC109B	110825965	0.974000	0.33945	0.122000	0.21767	0.915000	0.54546	6.122000	0.71608	1.979000	0.57680	0.482000	0.46254	CTT		0.378	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		12	36	0	0	0	0.001368	0	12	36				
VEGFC	7424	broad.mit.edu	37	4	177605128	177605128	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:177605128T>G	ENST00000280193.2	-	7	1627	c.1212A>C	c.(1210-1212)gaA>gaC	p.E404D	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	404					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.E404D(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AACGACACACTTCTTCACTAT	0.403																																							uc003ius.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(1210-1212)GAA>GAC		vascular endothelial growth factor C							134.0	124.0	127.0					4																	177605128		1899	4130	6029	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177605128T>G	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1212A>C	4.37:g.177605128T>G	ENSP00000280193:p.Glu404Asp						p.E404D	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	7	1642	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	404					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.1212A>C	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	T	16.99	3.275274	0.59649	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	L	0.59436	1.845	0.53688	D	0.999977	D	0.76494	0.999	D	0.78314	0.991	T	0.64175	-0.6469	9	0.49607	T	0.09	-24.415	9.7682	0.40574	0.0:0.199:0.0:0.801	.	404	P49767	VEGFC_HUMAN	D	404	.	ENSP00000280193:E404D	E	-	3	2	VEGFC	177842122	1.000000	0.71417	0.994000	0.49952	0.486000	0.33341	1.413000	0.34725	0.122000	0.18314	-0.256000	0.11100	GAA		0.403	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		23	84	0	0	0	0.00278	0	23	84				
ANKRD55	79722	broad.mit.edu	37	5	55422837	55422837	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:55422837T>G	ENST00000341048.4	-	8	860	c.709A>C	c.(709-711)Atc>Ctc	p.I237L	ANKRD55_ENST00000504958.2_Missense_Mutation_p.I194L|ANKRD55_ENST00000505970.2_Intron|RNU6-299P_ENST00000517223.1_RNA	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	237								p.I237L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCCGCTGCGATATGTACACAT	0.502																																							uc003jqu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(709-711)ATC>CTC		ankyrin repeat domain 55 isoform 1							134.0	126.0	129.0					5																	55422837		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55422837T>G	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.709A>C	5.37:g.55422837T>G	ENSP00000342295:p.Ile237Leu						p.I237L	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			8	861	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	236			ANK 7.		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.709A>C	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	T	7.942	0.742921	0.15642	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958	T;T	0.51071	2.45;0.72	5.62	3.2	0.36748	.	0.124623	0.50627	D	0.000106	T	0.37571	0.1008	L	0.52206	1.635	0.43152	D	0.994921	P	0.47350	0.894	B	0.40199	0.322	T	0.15122	-1.0448	10	0.19590	T	0.45	.	10.4273	0.44387	0.0:0.1347:0.0:0.8653	.	237	B3KVT8	.	L	237;237;194	ENSP00000342295:I237L;ENSP00000424230:I194L	ENSP00000342295:I237L	I	-	1	0	ANKRD55	55458594	1.000000	0.71417	0.836000	0.33094	0.017000	0.09413	1.519000	0.35888	0.969000	0.38237	-0.374000	0.07098	ATC		0.502	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		46	128	0	0	0	0.00361	0	46	128				
TAF9	6880	broad.mit.edu	37	5	68660800	68660800	+	Silent	SNP	A	A	G	rs548057941	byFrequency	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000217893.5_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	255	Poly-Asp.				cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													A|||	4	0.000798722	0.0	0.0058	5008	,	,		23660	0.0		0.0	False		,,,				2504	0.0						uc003jwc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(763-765)GAT>GAC		TAF9 RNA polymerase II, TATA box binding							115.0	107.0	110.0					5																	68660800		2203	4300	6503	SO:0001819	synonymous_variant	6880				histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr5:68660800A>G	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.765T>C	5.37:g.68660800A>G						TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Silent_p.D255D|TAF9_uc003jwe.1_Silent_p.D255D|TAF9_uc003jwf.1_Silent_p.D255D	p.D255D	NM_003187	NP_003178	Q16594	TAF9_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	2	1097	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	255			Poly-Asp.		D3DWA3|Q5U0D1|Q9BTS1	Silent	SNP	ENST00000328663.4	37	c.765T>C	CCDS4002.1																																																																																				0.318	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		4	121	0	0	0	0.009096	0	4	121				
POLK	51426	broad.mit.edu	37	5	74892214	74892214	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:74892214A>G	ENST00000241436.4	+	13	1868	c.1696A>G	c.(1696-1698)Agt>Ggt	p.S566G	POLK_ENST00000508526.1_Missense_Mutation_p.S368G|CTC-366B18.2_ENST00000511329.1_RNA|POLK_ENST00000352007.5_Missense_Mutation_p.S368G|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S476G|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	566					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.S566G(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TCATAAGAAGAGTTTCTTTGA	0.363								DNA polymerases (catalytic subunits)																															uc003kdw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(2)	4						c.(1696-1698)AGT>GGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							41.0	44.0	43.0					5																	74892214		2195	4297	6492	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74892214A>G	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1696A>G	5.37:g.74892214A>G	ENSP00000241436:p.Ser566Gly					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc010izq.2_Missense_Mutation_p.S368G|POLK_uc003kec.2_Missense_Mutation_p.S476G|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Intron|POLK_uc003kee.2_Intron|POLK_uc003kef.2_Missense_Mutation_p.S476G	p.S566G	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	13	1792	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	566					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1696A>G	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.993303	0.54041	.	.	ENSG00000122008	ENST00000241436;ENST00000352007;ENST00000508526;ENST00000380481	T;T;T;T	0.78481	1.07;-1.18;-1.18;1.04	5.47	5.47	0.80525	.	0.309345	0.40064	N	0.001189	D	0.86381	0.5919	M	0.63843	1.955	0.40059	D	0.975878	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.969	D	0.88063	0.2795	10	0.66056	D	0.02	-19.1629	15.5614	0.76249	1.0:0.0:0.0:0.0	.	368;566	Q9UBT6-3;Q9UBT6	.;POLK_HUMAN	G	566;368;368;476	ENSP00000241436:S566G;ENSP00000342256:S368G;ENSP00000426853:S368G;ENSP00000369848:S476G	ENSP00000241436:S566G	S	+	1	0	POLK	74927970	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.982000	0.63825	2.069000	0.61940	0.533000	0.62120	AGT		0.363	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3	NM_016218		6	76	0	0	0	0.001984	0	6	76				
ERAP2	64167	broad.mit.edu	37	5	96253179	96253179	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:96253179T>G	ENST00000437043.3	+	19	3464	c.2753T>G	c.(2752-2754)tTt>tGt	p.F918C	ERAP2_ENST00000379904.4_Missense_Mutation_p.F873C|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	918					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.F918C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AAACTATTTTTTGAATCTCTT	0.383																																							uc003kmq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2752-2754)TTT>TGT		endoplasmic reticulum aminopeptidase 2							65.0	71.0	69.0					5																	96253179		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96253179T>G	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2753T>G	5.37:g.96253179T>G	ENSP00000400376:p.Phe918Cys					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.F918C|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.F867C|ERAP2_uc003kmu.2_RNA	p.F918C	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	19	3463	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	918			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.2753T>G	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	16.82	3.228422	0.58777	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	T;T	0.08008	3.14;3.14	4.6	3.41	0.39046	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.79784	0.993;0.965	T	0.00475	-1.1717	10	0.87932	D	0	.	7.7607	0.28951	0.1861:0.0:0.0:0.8139	.	873;918	Q6P179-3;Q6P179	.;ERAP2_HUMAN	C	918;873	ENSP00000400376:F918C;ENSP00000369235:F873C	ENSP00000369235:F873C	F	+	2	0	ERAP2	96278935	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.632000	0.54287	0.716000	0.32124	0.455000	0.32223	TTT		0.383	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		22	113	0	0	0	0.00278	0	22	113				
PCDHA4	56144	broad.mit.edu	37	5	140189052	140189052	+	Silent	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:140189052T>C	ENST00000530339.1	+	1	2280	c.2280T>C	c.(2278-2280)tcT>tcC	p.S760S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S760S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.S760S	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	760	6 X 4 AA repeats of P-X-X-P.				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.S760S(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGTGCTCTGGTGAGGGCC	0.632																																							uc003lhi.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(2278-2280)TCT>TCC		protocadherin alpha 4 isoform 1 precursor							101.0	104.0	103.0					5																	140189052		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140189052T>C	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2280T>C	5.37:g.140189052T>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.S760S|PCDHA4_uc011daa.1_Silent_p.S760S	p.S760S	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2381	+			760			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.2280T>C	CCDS54916.1																																																																																				0.632	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	104	0	0	0	0.000602	0	4	104				
PCDHA6	56142	broad.mit.edu	37	5	140209755	140209755	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:140209755G>A	ENST00000529310.1	+	1	2193	c.2079G>A	c.(2077-2079)ctG>ctA	p.L693L	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	693					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L693L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGGCGCTGGTGGATGTCA	0.677																																							uc003lho.2		NA																	2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2077-2079)CTG>CTA		protocadherin alpha 6 isoform 1 precursor							48.0	52.0	51.0					5																	140209755		2202	4295	6497	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209755G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2079G>A	5.37:g.140209755G>A						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_uc011dab.1_Silent_p.L693L	p.L693L	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2106	+			693			Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2079G>A	CCDS47281.1																																																																																				0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		42	31	0	0	0	0.007835	0	42	31				
PCDHB6	56130	broad.mit.edu	37	5	140529864	140529864	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:140529864A>C	ENST00000231136.1	+	1	26	c.26A>C	c.(25-27)aAg>aCg	p.K9T	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	9					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K9T(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTACAGAACAAGAAAAGGCAA	0.433																																							uc003lir.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(25-27)AAG>ACG		protocadherin beta 6 precursor							152.0	150.0	151.0					5																	140529864		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140529864A>C	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.26A>C	5.37:g.140529864A>C	ENSP00000231136:p.Lys9Thr					PCDHB6_uc011dah.1_5'UTR	p.K9T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	26	+			9					B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.26A>C	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.962408	0.34659	.	.	ENSG00000113211	ENST00000231136	T	0.52983	0.64	4.43	3.24	0.37175	.	.	.	.	.	T	0.43743	0.1261	M	0.61703	1.905	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.37596	-0.9699	9	0.59425	D	0.04	.	9.6274	0.39759	0.8237:0.1763:0.0:0.0	.	9	Q9Y5E3	PCDB6_HUMAN	T	9	ENSP00000231136:K9T	ENSP00000231136:K9T	K	+	2	0	PCDHB6	140510048	0.762000	0.28451	0.414000	0.26521	0.015000	0.08874	2.045000	0.41250	0.660000	0.30964	-0.501000	0.04562	AAG		0.433	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		4	159	0	0	0	0.009096	0	4	159				
NMUR2	56923	broad.mit.edu	37	5	151784142	151784142	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:151784142G>A	ENST00000255262.3	-	1	698	c.533C>T	c.(532-534)tCc>tTc	p.S178F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	178					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.S178F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTTGGGCAGGGAGAAGAGCAC	0.627																																							uc003luv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(532-534)TCC>TTC		neuromedin U receptor 2							94.0	98.0	97.0					5																	151784142		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151784142G>A	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.533C>T	5.37:g.151784142G>A	ENSP00000255262:p.Ser178Phe						p.S178F	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		1	699	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	178			Helical; Name=4; (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.533C>T	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027966	0.75390	.	.	ENSG00000132911	ENST00000255262	T	0.44881	0.91	5.44	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.155416	0.45606	D	0.000355	T	0.70527	0.3234	M	0.93062	3.375	0.48236	D	0.999614	D	0.65815	0.995	D	0.64776	0.929	T	0.79492	-0.1781	10	0.87932	D	0	-15.0484	15.018	0.71600	0.0:0.143:0.857:0.0	.	178	Q9GZQ4	NMUR2_HUMAN	F	178	ENSP00000255262:S178F	ENSP00000255262:S178F	S	-	2	0	NMUR2	151764335	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.507000	0.97996	1.245000	0.43885	0.585000	0.79938	TCC		0.627	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		31	77	0	0	0	0.007291	0	31	77				
TDP2	51567	broad.mit.edu	37	6	24651080	24651080	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:24651080A>G	ENST00000378198.4	-	7	1195	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P	TDP2_ENST00000341060.3_Missense_Mutation_p.L284P|TDP2_ENST00000545995.1_Missense_Mutation_p.L372P			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	342					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)	p.L342P(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ACCACAGTCCAGTTTTTCTAA	0.403								Direct reversal of damage																															uc003nej.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1024-1026)CTG>CCG	Direct_reversal_of_damage|Editing_and_processing_nucleases	TRAF and TNF receptor-associated protein							87.0	84.0	85.0					6																	24651080		2203	4300	6503	SO:0001583	missense	51567				cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	g.chr6:24651080A>G	AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.1025T>C	6.37:g.24651080A>G	ENSP00000367440:p.Leu342Pro					TDP2_uc003nei.2_Missense_Mutation_p.L230P	p.L342P	NM_016614	NP_057698	O95551	TYDP2_HUMAN			7	1050	-			342					B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	c.1025T>C	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564449	0.86439	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000545780;ENST00000341060	T;T;T	0.24908	1.83;1.83;1.83	5.97	5.97	0.96955	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.54009	-0.8357	10	0.87932	D	0	-14.3554	16.4504	0.83984	1.0:0.0:0.0:0.0	.	342	O95551	TYDP2_HUMAN	P	342;372;264;284	ENSP00000367440:L342P;ENSP00000437637:L372P;ENSP00000345345:L284P	ENSP00000345345:L284P	L	-	2	0	TDP2	24759059	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.809000	0.91944	2.288000	0.76882	0.533000	0.62120	CTG		0.403	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			22	52	0	0	0	0.00278	0	22	52				
ZNF391	346157	broad.mit.edu	37	6	27368305	27368305	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:27368305A>C	ENST00000244576.4	+	3	701	c.156A>C	c.(154-156)gaA>gaC	p.E52D		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	52					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.E52D(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CACTCAAAGAAATTTTCACAG	0.423																																							uc003njf.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(2)|skin(1)	3						c.(154-156)GAA>GAC		zinc finger protein 391							93.0	87.0	89.0					6																	27368305		1855	4083	5938	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368305A>C	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.156A>C	6.37:g.27368305A>C	ENSP00000244576:p.Glu52Asp						p.E52D	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN			3	674	+			52					B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.156A>C	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118962	0.37436	.	.	ENSG00000124613	ENST00000244576;ENST00000461521	T;T	0.08370	3.1;6.0	4.27	-0.648	0.11464	.	.	.	.	.	T	0.02571	0.0078	M	0.64997	1.995	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.43556	-0.9384	9	0.87932	D	0	.	1.5507	0.02574	0.5317:0.1533:0.0935:0.2215	.	52	Q9UJN7	ZN391_HUMAN	D	52	ENSP00000244576:E52D;ENSP00000419498:E52D	ENSP00000244576:E52D	E	+	3	2	ZNF391	27476284	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	-0.724000	0.04947	-0.056000	0.13221	0.533000	0.62120	GAA		0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		32	64	0	0	0	0.002096	0	32	64				
PGBD1	84547	broad.mit.edu	37	6	28264604	28264604	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28264604G>A	ENST00000405948.2	+	5	1074	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PGBD1_ENST00000259883.3_Silent_p.K218K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	218						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K218K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CATTGGTGAAGACTGAGGAAG	0.463																																							uc003nky.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(652-654)AAG>AAA		piggyBac transposable element derived 1							94.0	91.0	92.0					6																	28264604		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264604G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.654G>A	6.37:g.28264604G>A						PGBD1_uc003nkz.2_Silent_p.K218K	p.K218K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			5	1024	+			218					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.654G>A	CCDS4648.1																																																																																				0.463	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			14	71	0	0	0	0.00245	0	14	71				
PGBD1	84547	broad.mit.edu	37	6	28264610	28264610	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28264610G>A	ENST00000405948.2	+	5	1080	c.660G>A	c.(658-660)gaG>gaA	p.E220E	PGBD1_ENST00000259883.3_Silent_p.E220E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	220						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E220E(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGAAGACTGAGGAAGAAACAG	0.468																																							uc003nky.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(658-660)GAG>GAA		piggyBac transposable element derived 1							100.0	96.0	97.0					6																	28264610		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264610G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.660G>A	6.37:g.28264610G>A						PGBD1_uc003nkz.2_Silent_p.E220E	p.E220E	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			5	1030	+			220					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.660G>A	CCDS4648.1																																																																																				0.468	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			13	68	0	0	0	0.001855	0	13	68				
PGBD1	84547	broad.mit.edu	37	6	28264697	28264697	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28264697G>C	ENST00000405948.2	+	5	1167	c.747G>C	c.(745-747)gaG>gaC	p.E249D	PGBD1_ENST00000259883.3_Missense_Mutation_p.E249D	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	249						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E249D(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGCTCAGGAGACAGTTATGA	0.567																																							uc003nky.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(745-747)GAG>GAC		piggyBac transposable element derived 1							108.0	100.0	103.0					6																	28264697		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264697G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.747G>C	6.37:g.28264697G>C	ENSP00000385213:p.Glu249Asp					PGBD1_uc003nkz.2_Missense_Mutation_p.E249D	p.E249D	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			5	1117	+			249					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.747G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	5.904	0.350889	0.11182	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.02395	4.31;4.31	3.98	0.837	0.18896	.	0.914113	0.08902	N	0.877066	T	0.00724	0.0024	N	0.24115	0.695	0.09310	N	1	P	0.34522	0.455	B	0.27170	0.077	T	0.48479	-0.9032	10	0.72032	D	0.01	-16.1402	6.5028	0.22178	0.3545:0.0:0.6455:0.0	.	249	Q96JS3	PGBD1_HUMAN	D	249	ENSP00000385213:E249D;ENSP00000259883:E249D	ENSP00000259883:E249D	E	+	3	2	PGBD1	28372676	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.228000	0.17814	0.156000	0.19299	-0.137000	0.14449	GAG		0.567	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			9	47	0	0	0	0.004482	0	9	47				
PGBD1	84547	broad.mit.edu	37	6	28265725	28265725	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28265725G>A	ENST00000405948.2	+	6	1246	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E276K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	276						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E276K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAAACTTCTGAAGAAATGGA	0.343																																							uc003nky.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(826-828)GAA>AAA		piggyBac transposable element derived 1							63.0	70.0	68.0					6																	28265725		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28265725G>A	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.826G>A	6.37:g.28265725G>A	ENSP00000385213:p.Glu276Lys					PGBD1_uc003nkz.2_Missense_Mutation_p.E276K	p.E276K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			6	1196	+			276					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.826G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.804056	0.31869	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01359	4.98;4.98	4.36	1.48	0.22813	.	0.730538	0.11350	N	0.573091	T	0.00440	0.0014	L	0.27053	0.805	0.23585	N	0.997353	B	0.10296	0.003	B	0.08055	0.003	T	0.43410	-0.9393	10	0.36615	T	0.2	-16.0404	5.7933	0.18373	0.3602:0.0:0.6398:0.0	.	276	Q96JS3	PGBD1_HUMAN	K	276	ENSP00000385213:E276K;ENSP00000259883:E276K	ENSP00000259883:E276K	E	+	1	0	PGBD1	28373704	0.918000	0.31147	0.759000	0.31340	0.983000	0.72400	0.042000	0.13949	0.309000	0.22966	0.591000	0.81541	GAA		0.343	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			12	63	0	0	0	0.000978	0	12	63				
PGBD1	84547	broad.mit.edu	37	6	28265744	28265744	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28265744G>C	ENST00000405948.2	+	6	1265	c.845G>C	c.(844-846)gGa>gCa	p.G282A	PGBD1_ENST00000259883.3_Missense_Mutation_p.G282A	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	282						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G282A(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAACAAAGTGGAGAAGCCTCA	0.353																																							uc003nky.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(844-846)GGA>GCA		piggyBac transposable element derived 1							62.0	69.0	67.0					6																	28265744		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28265744G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.845G>C	6.37:g.28265744G>C	ENSP00000385213:p.Gly282Ala					PGBD1_uc003nkz.2_Missense_Mutation_p.G282A	p.G282A	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			6	1215	+			282					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.845G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.486203	0.00163	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01313	5.02;5.02	4.36	-0.579	0.11720	.	2.563480	0.02276	N	0.068916	T	0.00210	0.0006	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46992	-0.9151	10	0.20046	T	0.44	-16.0548	1.0222	0.01520	0.352:0.2328:0.2815:0.1338	.	282	Q96JS3	PGBD1_HUMAN	A	282	ENSP00000385213:G282A;ENSP00000259883:G282A	ENSP00000259883:G282A	G	+	2	0	PGBD1	28373723	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.131000	0.15870	-0.130000	0.11599	-0.218000	0.12543	GGA		0.353	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			13	53	0	0	0	0.00245	0	13	53				
C2	717	broad.mit.edu	37	6	31912805	31912805	+	Splice_Site	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:31912805A>G	ENST00000299367.5	+	17	2354	c.2078A>G	c.(2077-2079)cAg>cGg	p.Q693R	CFB_ENST00000425368.2_5'Flank|C2_ENST00000468407.1_3'UTR|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Splice_Site_p.Q479R|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Splice_Site_p.Q561R|C2_ENST00000469372.1_Splice_Site_p.Q447R|CFB_ENST00000477310.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	693	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.Q693R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		AGGTTTTTTCAGGTGAGAAGG	0.552																																							uc003nyf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2077-2079)CAG>CGG		complement component 2 isoform 1 preproprotein							126.0	139.0	134.0					6																	31912805		1509	2709	4218	SO:0001630	splice_region_variant	717				complement activation, classical pathway|innate immune response|proteolysis	extracellular space	serine-type endopeptidase activity	g.chr6:31912805A>G		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2079+1A>G	6.37:g.31912805A>G						C2_uc011doo.1_Missense_Mutation_p.Q447R|C2_uc011dop.1_Missense_Mutation_p.Q479R|C2_uc010jtk.2_Missense_Mutation_p.Q561R|C2_uc011doq.1_Missense_Mutation_p.Q664R|C2_uc003nyg.2_Missense_Mutation_p.Q470R|CFB_uc011dor.1_Intron|C2_uc003nyh.1_Intron|CFB_uc011dos.1_5'Flank|CFB_uc003nyi.2_5'Flank|CFB_uc003nyj.3_5'Flank	p.Q693R	NM_000063	NP_000054	P06681	CO2_HUMAN		LUAD - Lung adenocarcinoma(999;0.247)	17	2342	+		Ovarian(999;0.00965)	693			Peptidase S1.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.2078A>G	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.2|21.2	4.115431|4.115431	0.77323|0.77323	.|.	.|.	ENSG00000166278|ENSG00000166278	ENST00000469372;ENST00000452323;ENST00000299367;ENST00000442278|ENST00000383177	T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.37304|.	N|.	0.002153|.	D|D	0.84179|0.84179	0.5415|0.5415	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;0.999;0.999;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.997;0.983;0.992;0.992;0.997;0.999|.	D|D	0.88868|0.88868	0.3331|0.3331	10|5	0.87932|.	D|.	0|.	-18.6753|-18.6753	12.1103|12.1103	0.53836|0.53836	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	664;479;447;561;561;693|.	B4DV48;B4DPF3;B4DQI1;E9PFN7;B4DV20;P06681|.	.;.;.;.;.;CO2_HUMAN|.	R|G	447;479;693;561|467	ENSP00000418923:Q447R;ENSP00000392322:Q479R;ENSP00000299367:Q693R;ENSP00000395683:Q561R|.	ENSP00000299367:Q693R|.	Q|R	+|+	2|1	0|2	C2|C2	32020784|32020784	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	4.247000|4.247000	0.58750|0.58750	2.129000|2.129000	0.65627|0.65627	0.383000|0.383000	0.25322|0.25322	CAG|AGG		0.552	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9		Missense_Mutation	3	124	0	0	0	0.009096	0	3	124				
TRERF1	55809	broad.mit.edu	37	6	42231109	42231109	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:42231109G>A	ENST00000372922.4	-	8	2395	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Silent_p.S611S|TRERF1_ENST00000372917.4_Intron	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	611	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S611S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTCTCTGGCGGAGGGGGCGG	0.657																																							uc003osd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1831-1833)TCC>TCT		transcriptional regulating factor 1							61.0	66.0	65.0					6																	42231109		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231109G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1833C>T	6.37:g.42231109G>A						TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Silent_p.S611S	p.S611S	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		8	2396	-	Colorectal(47;0.196)		611			Pro-rich.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.1833C>T	CCDS4867.1																																																																																				0.657	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		5	82	0	0	0	0.000602	0	5	82				
TTK	7272	broad.mit.edu	37	6	80723075	80723075	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:80723075A>C	ENST00000369798.2	+	9	1087	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_ENST00000230510.3_Missense_Mutation_p.N326H|TTK_ENST00000509894.1_Missense_Mutation_p.N326H	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	326					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.N310H(1)|p.N326H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAGAAATTTAAAGGT	0.358																																							uc003pjc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.(976-978)AAT>CAT		TTK protein kinase							74.0	87.0	82.0					6																	80723075		2202	4294	6496	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80723075A>C		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.976A>C	6.37:g.80723075A>C	ENSP00000358813:p.Asn326His					TTK_uc003pjb.3_Missense_Mutation_p.N326H	p.N326H	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	9	1050	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	326					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.976A>C	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	12.25	1.880323	0.33162	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.69806	-0.41;-0.41;-0.43	5.63	-2.13	0.07144	.	0.718330	0.15478	N	0.260260	T	0.16342	0.0393	N	0.04508	-0.205	0.22737	N	0.998796	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.004	T	0.25984	-1.0116	10	0.34782	T	0.22	.	5.9981	0.19505	0.3703:0.4243:0.2054:0.0	.	326;326	P33981;A8K8U5	TTK_HUMAN;.	H	326	ENSP00000422936:N326H;ENSP00000230510:N326H;ENSP00000358813:N326H	ENSP00000230510:N326H	N	+	1	0	TTK	80779794	0.310000	0.24527	0.778000	0.31720	0.805000	0.45488	-0.315000	0.08081	-0.229000	0.09854	0.533000	0.62120	AAT		0.358	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			13	151	0	0	0	0.003163	0	13	151				
RBAK	57786	broad.mit.edu	37	7	5103663	5103663	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:5103663A>C	ENST00000353796.3	+	6	900	c.576A>C	c.(574-576)gaA>gaC	p.E192D	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.E192D|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	192	Required for interaction with RB1.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E192D(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACAATGAAGAAAATATTCTTC	0.333																																							uc010kss.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|skin(1)	5						c.(574-576)GAA>GAC		RB-associated KRAB repressor							39.0	41.0	40.0					7																	5103663		2202	4298	6500	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5103663A>C	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.576A>C	7.37:g.5103663A>C	ENSP00000275423:p.Glu192Asp					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E192D	p.E192D	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	900	+		Ovarian(82;0.0175)	192			Required for interaction with RB1.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.576A>C	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.448499	0.01080	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.06933	3.24;3.24	3.76	1.37	0.22104	.	0.000000	0.49305	D	0.000151	T	0.03871	0.0109	N	0.11698	0.16	0.27733	N	0.944734	B	0.12630	0.006	B	0.12156	0.007	T	0.35450	-0.9788	8	.	.	.	.	6.7312	0.23385	0.7875:0.0:0.2125:0.0	.	192	Q9NYW8	RBAK_HUMAN	D	192	ENSP00000275423:E192D;ENSP00000380120:E192D	.	E	+	3	2	RBAK	5070189	0.064000	0.20934	0.104000	0.21259	0.146000	0.21551	0.249000	0.18216	0.293000	0.22520	-0.451000	0.05528	GAA		0.333	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		3	68	0	0	0	0.004672	0	3	68				
PCOLCE	5118	broad.mit.edu	37	7	100201142	100201142	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:100201142A>G	ENST00000223061.5	+	2	465	c.185A>G	c.(184-186)gAg>gGg	p.E62G	PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000544873.1_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	62	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.E62G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTAATAAGGAGTGCATCTGG	0.577																																							uc003uvo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GAG>GGG		procollagen C-endopeptidase enhancer							90.0	76.0	81.0					7																	100201142		2203	4300	6503	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100201142A>G	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.185A>G	7.37:g.100201142A>G	ENSP00000223061:p.Glu62Gly					uc011kjy.1_Intron|PCOLCE_uc011kkb.1_Missense_Mutation_p.E62G|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_5'Flank	p.E62G	NM_002593	NP_002584	Q15113	PCOC1_HUMAN			2	383	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		62			CUB 1.		B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.185A>G	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625355	0.46840	.	.	ENSG00000106333	ENST00000223061	T	0.19669	2.13	3.98	3.98	0.46160	CUB (5);	0.184208	0.47093	D	0.000252	T	0.21801	0.0525	M	0.75085	2.285	0.31456	N	0.670144	B;B	0.26708	0.157;0.001	B;B	0.19391	0.025;0.008	T	0.22730	-1.0208	10	0.59425	D	0.04	-11.2798	6.1231	0.20164	0.8855:0.0:0.1145:0.0	.	62;62	B4DPJ4;Q15113	.;PCOC1_HUMAN	G	62	ENSP00000223061:E62G	ENSP00000223061:E62G	E	+	2	0	PCOLCE	100039078	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.015000	0.57152	1.806000	0.52798	0.172000	0.16884	GAG		0.577	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		14	17	0	0	0	0.001855	0	14	17				
MUC17	140453	broad.mit.edu	37	7	100678181	100678181	+	Silent	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:100678181T>C	ENST00000306151.4	+	3	3548	c.3484T>C	c.(3484-3486)Tta>Cta	p.L1162L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1162	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L1162L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACCACTCCGTTAGCAAGTAT	0.517																																							uc003uxp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3484-3486)TTA>CTA		mucin 17 precursor							382.0	328.0	347.0					7																	100678181		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678181T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3484T>C	7.37:g.100678181T>C						MUC17_uc010lho.1_RNA	p.L1162L	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3537	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1162			Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3484T>C	CCDS34711.1																																																																																				0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		82	180	0	0	0	0.00361	0	82	180				
RELN	5649	broad.mit.edu	37	7	103202292	103202292	+	Silent	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:103202292T>G	ENST00000428762.1	-	35	5478	c.5319A>C	c.(5317-5319)tcA>tcC	p.S1773S	RELN_ENST00000424685.2_Silent_p.S1773S|RELN_ENST00000343529.5_Silent_p.S1773S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1773	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.S1773S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCCTCGTCCTGAGCACATCC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5317-5319)TCA>TCC		reelin isoform a							103.0	91.0	95.0					7																	103202292		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103202292T>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5319A>C	7.37:g.103202292T>G						RELN_uc010liz.2_Silent_p.S1773S	p.S1773S	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	35	5479	-			1773			EGF-like 4.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.5319A>C	CCDS47680.1																																																																																				0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		15	29	0	0	0	0.00499	0	15	29				
KMT2E	55904	broad.mit.edu	37	7	104749673	104749673	+	Silent	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:104749673A>G	ENST00000311117.3	+	23	4298	c.3753A>G	c.(3751-3753)caA>caG	p.Q1251Q	KMT2E_ENST00000257745.4_Silent_p.Q1251Q|SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334914.7_Silent_p.Q306Q|KMT2E_ENST00000334877.4_Silent_p.Q1251Q	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1251					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q1251Q(1)									CAGAAGTTCAATGGTAAGCCC	0.398																																							uc003vcm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3751-3753)CAA>CAG		myeloid/lymphoid or mixed-lineage leukemia 5							59.0	53.0	55.0					7																	104749673		2203	4300	6503	SO:0001819	synonymous_variant	55904				cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	g.chr7:104749673A>G	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3753A>G	7.37:g.104749673A>G						MLL5_uc010ljc.2_Silent_p.Q1251Q|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_Missense_Mutation_p.N57S|uc003vcp.1_5'Flank|MLL5_uc010ljh.1_Missense_Mutation_p.N57S	p.Q1251Q	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN			23	4287	+			1251					B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Silent	SNP	ENST00000311117.3	37	c.3753A>G	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	A	4.932	0.173159	0.09391	.	.	ENSG00000005483	ENST00000473063	.	.	.	5.25	-7.65	0.01281	.	.	.	.	.	T	0.65842	0.2730	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70753	-0.4786	4	.	.	.	.	18.7026	0.91626	0.2915:0.0:0.7085:0.0	.	.	.	.	V	63	.	.	M	+	1	0	MLL5	104536909	0.954000	0.32549	0.855000	0.33649	0.834000	0.47266	-0.094000	0.11094	-1.361000	0.02169	-0.621000	0.04028	ATG		0.398	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			8	13	0	0	0	0.004482	0	8	13				
PNPLA8	50640	broad.mit.edu	37	7	108137971	108137971	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:108137971T>G	ENST00000422087.1	-	7	1815	c.1409A>C	c.(1408-1410)aAg>aCg	p.K470T	PNPLA8_ENST00000453144.1_Missense_Mutation_p.K370T|PNPLA8_ENST00000426128.2_Missense_Mutation_p.K470T|PNPLA8_ENST00000257694.8_Missense_Mutation_p.K470T|PNPLA8_ENST00000436062.1_Missense_Mutation_p.K470T|PNPLA8_ENST00000388728.5_Missense_Mutation_p.K470T|PNPLA8_ENST00000483879.1_5'UTR	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	470	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.K470T(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATGAACTGGCTTCTGAGTAAG	0.363																																							uc003vff.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1408-1410)AAG>ACG		patatin-like phospholipase domain containing 8							91.0	81.0	85.0					7																	108137971		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108137971T>G	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1409A>C	7.37:g.108137971T>G	ENSP00000410804:p.Lys470Thr					PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.K470T|PNPLA8_uc003vfi.1_Missense_Mutation_p.K370T|PNPLA8_uc003vfj.1_Missense_Mutation_p.K470T|PNPLA8_uc003vfk.1_Missense_Mutation_p.K370T	p.K470T	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			7	1816	-			470			Patatin.		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1409A>C	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.830232	0.91036	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.47	5.47	0.80525	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.60393	-0.7272	10	0.62326	D	0.03	.	15.5536	0.76173	0.0:0.0:0.0:1.0	.	470	Q9NP80	PLPL8_HUMAN	T	470;470;470;470;370;470;370	ENSP00000394988:K470T;ENSP00000257694:K470T;ENSP00000373380:K470T;ENSP00000410804:K470T;ENSP00000387789:K370T;ENSP00000406779:K470T;ENSP00000402274:K370T	ENSP00000257694:K470T	K	-	2	0	PNPLA8	107925207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.965000	0.87945	2.066000	0.61787	0.533000	0.62120	AAG		0.363	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		9	44	0	0	0	0.006214	0	9	44				
SSPO	23145	broad.mit.edu	37	7	149492740	149492740	+	RNA	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:149492740T>G	ENST00000378016.2	+	0	6520							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGCATCTTGCCCCTGCC	0.592																																							uc010lpk.2		NA																	0					0						c.(6520-6522)TTG>GTG		SCO-spondin precursor							139.0	149.0	146.0					7																	149492740		2072	4210	6282			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149492740T>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492740T>G							p.L2174V	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		44	6520	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2174			F5/8 type C.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.6520T>G																																																																																					0.592	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				63	111	0	0	0	0.00361	0	63	111				
TUSC3	7991	broad.mit.edu	37	8	15508234	15508234	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr8:15508234G>T	ENST00000503731.1	+	3	485	c.337G>T	c.(337-339)Gcg>Tcg	p.A113S	TUSC3_ENST00000382020.4_Missense_Mutation_p.A113S|TUSC3_ENST00000506802.1_Missense_Mutation_p.A113S|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000509380.1_Missense_Mutation_p.A113S	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	113	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.A113S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TCAAATACTGGCGAACTCCTG	0.393																																							uc003wwt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(337-339)GCG>TCG		tumor suppressor candidate 3 isoform a							219.0	212.0	214.0					8																	15508234		2203	4300	6503	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15508234G>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.337G>T	8.37:g.15508234G>T	ENSP00000424544:p.Ala113Ser					TUSC3_uc003wwr.2_Missense_Mutation_p.A113S|TUSC3_uc003wws.2_Missense_Mutation_p.A113S|TUSC3_uc003wwu.2_Missense_Mutation_p.A113S|TUSC3_uc003wwv.2_Missense_Mutation_p.A113S|TUSC3_uc003www.2_Missense_Mutation_p.A113S|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.A113S	p.A113S	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	3	547	+			113					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.337G>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	G	32	5.187124	0.94923	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.46	5.46	0.80206	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.70928	0.3280	M	0.81497	2.545	0.80722	D	1	D;D;D;D;D;D	0.69078	0.967;0.988;0.99;0.99;0.988;0.997	D;D;D;D;D;D	0.79108	0.963;0.951;0.98;0.912;0.934;0.992	T	0.69756	-0.5059	10	0.38643	T	0.18	-13.8883	18.6795	0.91541	0.0:0.0:1.0:0.0	.	113;113;113;113;113;113	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	S	113	ENSP00000371450:A113S;ENSP00000425777:A113S;ENSP00000423426:A113S;ENSP00000424544:A113S	ENSP00000221167:A113S	A	+	1	0	TUSC3	15552605	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.718000	0.92993	0.655000	0.94253	GCG		0.393	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		56	128	1	0	2.47907e-22	0.00361	2.66086e-22	56	128				
MTMR7	9108	broad.mit.edu	37	8	17188790	17188790	+	Splice_Site	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr8:17188790A>C	ENST00000180173.5	-	7	768	c.734T>G	c.(733-735)cTt>cGt	p.L245R	MTMR7_ENST00000521857.1_Splice_Site_p.L245R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	245	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.L245R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CATTGCATTAAGCTGCAGTGG	0.378																																							uc003wxm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(733-735)CTT>CGT		myotubularin related protein 7							119.0	101.0	107.0					8																	17188790		2203	4300	6503	SO:0001630	splice_region_variant	9108						protein tyrosine phosphatase activity	g.chr8:17188790A>C	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.733-1T>G	8.37:g.17188790A>C						MTMR7_uc003wxn.2_Missense_Mutation_p.L24R	p.L245R	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	7	973	-			245			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.734T>G	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416431	0.83449	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.90844	-2.74;-2.74	4.84	4.84	0.62591	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.95316	0.8480	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;0.989	D;D	0.85130	0.997;0.952	D	0.94933	0.8084	10	0.39692	T	0.17	.	14.914	0.70781	1.0:0.0:0.0:0.0	.	245;245	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	R	245	ENSP00000180173:L245R;ENSP00000429733:L245R	ENSP00000180173:L245R	L	-	2	0	MTMR7	17233161	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.114000	0.94329	2.168000	0.68352	0.533000	0.62120	CTT		0.378	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	Missense_Mutation	22	29	0	0	0	0.001882	0	22	29				
ATP6V1B2	526	broad.mit.edu	37	8	20062036	20062036	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr8:20062036T>G	ENST00000276390.2	+	2	218	c.178T>G	c.(178-180)Tta>Gta	p.L60V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	60					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L60V(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	ACTAGTGATCTTAGATCATGT	0.313																																					Pancreas(119;1230 1726 3901 4036 31644)	Pancreas(119;1230 1726 3901 4036 31644)	uc003wzp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(178-180)TTA>GTA		vacuolar H+ATPase B2							191.0	155.0	167.0					8																	20062036		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20062036T>G	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.178T>G	8.37:g.20062036T>G	ENSP00000276390:p.Leu60Val						p.L60V	NM_001693	NP_001684	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	2	392	+			60					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.178T>G	CCDS6014.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.10|13.10	2.135309|2.135309	0.37728|0.37728	.|.	.|.	ENSG00000147416|ENSG00000147416	ENST00000519667|ENST00000276390	.|T	.|0.78595	.|-1.19	5.83|5.83	3.39|3.39	0.38822|0.38822	.|ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.65943|0.65943	0.2740|0.2740	L|L	0.28054|0.28054	0.825|0.825	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.17268	.|0.021	.|B	.|0.34385	.|0.181	T|T	0.51284|0.51284	-0.8725|-0.8725	6|10	.|0.18276	.|T	.|0.48	-7.5013|-7.5013	8.1512|8.1512	0.31141|0.31141	0.0:0.226:0.0:0.774|0.0:0.226:0.0:0.774	.|.	.|60	.|P21281	.|VATB2_HUMAN	R|V	49|60	.|ENSP00000276390:L60V	.|ENSP00000276390:L60V	L|L	+|+	2|1	0|2	ATP6V1B2|ATP6V1B2	20106316|20106316	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.412000|1.412000	0.34714|0.34714	0.441000|0.441000	0.26529|0.26529	-0.371000|-0.371000	0.07208|0.07208	CTT|TTA		0.313	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		14	55	0	0	0	0.007413	0	14	55				
UBR5	51366	broad.mit.edu	37	8	103324705	103324705	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr8:103324705T>G	ENST00000520539.1	-	17	2622	c.2016A>C	c.(2014-2016)aaA>aaC	p.K672N	UBR5_ENST00000220959.4_Missense_Mutation_p.K672N|UBR5_ENST00000521922.1_Missense_Mutation_p.K666N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	672					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.K672N(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CACCATCTACTTTTAGCACCT	0.368																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(2014-2016)AAA>AAC		ubiquitin protein ligase E3 component n-recognin							104.0	101.0	102.0					8																	103324705		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103324705T>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.2016A>C	8.37:g.103324705T>G	ENSP00000429084:p.Lys672Asn					UBR5_uc003yks.1_Missense_Mutation_p.K672N	p.K672N	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		17	2049	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		672					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.2016A>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083885	0.76642	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.67865	-0.29;-0.29;-0.29	5.23	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.78534	0.4298	M	0.73598	2.24	0.58432	D	0.999997	D;D	0.57899	0.981;0.981	D;D	0.67231	0.95;0.95	T	0.79237	-0.1886	10	0.87932	D	0	.	10.1475	0.42774	0.0:0.0801:0.0:0.9199	.	666;672	E7EMW7;O95071	.;UBR5_HUMAN	N	672;672;666	ENSP00000429084:K672N;ENSP00000220959:K672N;ENSP00000427819:K666N	ENSP00000220959:K672N	K	-	3	2	UBR5	103393881	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.270000	0.51600	0.850000	0.35239	0.482000	0.46254	AAA		0.368	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		35	73	0	0	0	0.002522	0	35	73				
GALNT12	79695	broad.mit.edu	37	9	101594148	101594148	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr9:101594148A>C	ENST00000375011.3	+	4	826	c.826A>C	c.(826-828)Atc>Ctc	p.I276L		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	276					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.I276L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGAGCCCCAGATCGGCGGTTT	0.577																																							uc004ayz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(826-828)ATC>CTC		N-acetylgalactosaminyltransferase 12							60.0	58.0	59.0					9																	101594148		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101594148A>C	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.826A>C	9.37:g.101594148A>C	ENSP00000364150:p.Ile276Leu						p.I276L	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			4	826	+		Acute lymphoblastic leukemia(62;0.0559)	276			Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.826A>C	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948179	0.73787	.	.	ENSG00000119514	ENST00000375011	T	0.58210	0.35	5.72	5.72	0.89469	Glycosyl transferase, family 2 (1);	0.143577	0.50627	D	0.000120	T	0.51092	0.1654	L	0.60845	1.875	0.58432	D	0.999998	P	0.38582	0.638	B	0.40165	0.321	T	0.47787	-0.9090	10	0.23891	T	0.37	.	13.9514	0.64118	1.0:0.0:0.0:0.0	.	276	Q8IXK2	GLT12_HUMAN	L	276	ENSP00000364150:I276L	ENSP00000364150:I276L	I	+	1	0	GALNT12	100633969	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.450000	0.80656	2.187000	0.69744	0.459000	0.35465	ATC		0.577	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		7	13	0	0	0	0.00308	0	7	13				
ASB6	140459	broad.mit.edu	37	9	132402830	132402830	+	Silent	SNP	G	G	A	rs559454919		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr9:132402830G>A	ENST00000277458.4	-	2	450	c.285C>T	c.(283-285)ctC>ctT	p.L95L	ASB6_ENST00000450050.2_Intron|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_Silent_p.L95L	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	95					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.L95L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CTTCAAAGTTGAGATTGGCCC	0.652																																							uc004byf.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(283-285)CTC>CTT		ankyrin repeat and SOCS box-containing 6 isoform							34.0	36.0	35.0					9																	132402830		2203	4300	6503	SO:0001819	synonymous_variant	140459				intracellular signal transduction	cytoplasm		g.chr9:132402830G>A		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.285C>T	9.37:g.132402830G>A						ASB6_uc004bye.1_Silent_p.L20L|ASB6_uc004byg.1_Silent_p.L95L|ASB6_uc011mbt.1_Intron|ASB6_uc010myx.1_Silent_p.L95L	p.L95L	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN			2	451	-		Ovarian(14;0.00556)	95			ANK 1.		Q5SZB7|Q9BV15	Silent	SNP	ENST00000277458.4	37	c.285C>T	CCDS6924.1																																																																																				0.652	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		12	19	0	0	0	0.003163	0	12	19				
FUT7	2529	broad.mit.edu	37	9	139925457	139925457	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr9:139925457G>A	ENST00000314412.6	-	2	1752	c.734C>T	c.(733-735)gCa>gTa	p.A245V	ABCA2_ENST00000341511.6_5'Flank|C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000265662.5_5'Flank|ABCA2_ENST00000371605.3_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	245					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.A245V(1)		NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGCCACCAGTGCGTTGCGCCA	0.627																																							uc004ckq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(733-735)GCA>GTA		fucosyltransferase 7							85.0	101.0	96.0					9																	139925457		2203	4299	6502	SO:0001583	missense	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925457G>A	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.734C>T	9.37:g.139925457G>A	ENSP00000318142:p.Ala245Val					ABCA2_uc011mel.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	p.A245V	NM_004479	NP_004470	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1583	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	245			Lumenal (Potential).		B2R7U7|Q6DK54	Missense_Mutation	SNP	ENST00000314412.6	37	c.734C>T	CCDS7022.1	.	.	.	.	.	.	.	.	.	.	g	17.00	3.277320	0.59758	.	.	ENSG00000180549	ENST00000314412	T	0.46063	0.88	4.68	4.68	0.58851	.	0.369421	0.27198	U	0.020466	T	0.68476	0.3005	M	0.85197	2.74	0.40025	D	0.975469	D	0.76494	0.999	D	0.81914	0.995	T	0.76187	-0.3051	10	0.72032	D	0.01	-11.2448	16.6193	0.84926	0.0:0.0:1.0:0.0	.	245	Q11130	FUT7_HUMAN	V	245	ENSP00000318142:A245V	ENSP00000318142:A245V	A	-	2	0	FUT7	139045278	1.000000	0.71417	0.914000	0.36105	0.204000	0.24138	8.816000	0.91979	2.139000	0.66308	0.450000	0.29827	GCA		0.627	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		34	87	0	0	0	0.003271	0	34	87				
CACNA1B	774	broad.mit.edu	37	9	140811791	140811791	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr9:140811791T>G	ENST00000371372.1	+	6	1019	c.874T>G	c.(874-876)Ttt>Gtt	p.F292V	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F292V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F292V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F292V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F292V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	292					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.F292V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGACCCAACTTTGGCATCAC	0.582																																							uc004cog.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(874-876)TTT>GTT		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						137.0	152.0	147.0					9																	140811791		2164	4278	6442	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140811791T>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.874T>G	9.37:g.140811791T>G	ENSP00000360423:p.Phe292Val						p.F292V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	6	1019	+	all_cancers(76;0.166)		292			I.|Extracellular (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.874T>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.830324	0.32329	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91	4.86	4.86	0.63082	.	0.054941	0.64402	D	0.000001	D	0.96599	0.8890	L	0.56124	1.755	0.80722	D	1	P	0.43231	0.801	B	0.43990	0.438	D	0.95137	0.8260	10	0.31617	T	0.26	.	10.057	0.42250	0.1502:0.0:0.0:0.8498	.	292	B1AQK6	.	V	292	ENSP00000360423:F292V;ENSP00000277551:F292V;ENSP00000360414:F292V;ENSP00000360408:F292V;ENSP00000360406:F292V	ENSP00000277551:F292V	F	+	1	0	CACNA1B	139931612	1.000000	0.71417	0.993000	0.49108	0.810000	0.45777	4.990000	0.63876	1.935000	0.56089	0.533000	0.62120	TTT		0.582	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		14	62	0	0	0	0.001855	0	14	62				
BCOR	54880	broad.mit.edu	37	X	39921444	39921444	+	Missense_Mutation	SNP	T	T	C	rs199538037		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:39921444T>C	ENST00000378444.4	-	10	4604	c.4376A>G	c.(4375-4377)aAt>aGt	p.N1459S	BCOR_ENST00000378455.4_Missense_Mutation_p.N1407S|BCOR_ENST00000342274.4_Missense_Mutation_p.N1425S|BCOR_ENST00000397354.3_Missense_Mutation_p.N1425S|BCOR_ENST00000378463.1_Missense_Mutation_p.N302S	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1459				N -> S (in Ref. 6; BAA91061). {ECO:0000305}.	heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N1425S(12)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGCGTTCTTATTGACAATAAG	0.647			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						T|||	1	0.000264901	0.0008	0.0	3775	,	,		11022	0.0		0.0	False		,,,				2504	0.0						uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							12	Substitution - Missense(12)		endometrium(11)|lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(4375-4377)AAT>AGT		BCL-6 interacting corepressor isoform c							63.0	51.0	55.0					X																	39921444		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39921444T>C	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4376A>G	X.37:g.39921444T>C	ENSP00000367705:p.Asn1459Ser					BCOR_uc004dep.3_Missense_Mutation_p.N1425S|BCOR_uc004deo.3_Missense_Mutation_p.N1407S|BCOR_uc010nhb.2_Missense_Mutation_p.N167S|BCOR_uc004dem.3_Missense_Mutation_p.N1425S	p.N1459S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			10	4668	-			1459	N -> S (in Ref. 6; BAA91061).				D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.4376A>G	CCDS48093.1	2|2	0.0012055455093429777|0.0012055455093429777	3|3	0.006097560975609756|0.006097560975609756	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	T|T	25.1|25.1	4.604928|4.604928	0.87157|0.87157	.|.	.|.	ENSG00000183337|ENSG00000183337	ENST00000427012|ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.|T;T;T;T;T;T;T	.|0.71222	.|-0.55;0.82;0.92;0.91;0.88;0.91;-0.52	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Ankyrin repeat-containing domain (1);	.|.	.|.	.|.	.|.	T|T	0.56277|0.56277	0.1974|0.1974	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.47034	.|0.889;0.727;0.889	.|P;P;P	.|0.48454	.|0.547;0.578;0.547	T|T	0.66988|0.66988	-0.5784|-0.5784	5|9	.|0.59425	.|D	.|0.04	-24.8403|-24.8403	14.6418|14.6418	0.68732|0.68732	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1407;1459;1425	.|Q6W2J9-4;Q6W2J9;Q6W2J9-2	.|.;BCOR_HUMAN;.	V|S	154|329;302;1407;1425;1459;1425;132	.|ENSP00000408006:N329S;ENSP00000367724:N302S;ENSP00000367716:N1407S;ENSP00000380512:N1425S;ENSP00000367705:N1459S;ENSP00000345923:N1425S;ENSP00000387552:N132S	.|ENSP00000345923:N1425S	I|N	-|-	1|2	0|0	BCOR|BCOR	39806388|39806388	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.992000|0.992000	0.81027|0.81027	7.643000|7.643000	0.83403|0.83403	1.838000|1.838000	0.53458|0.53458	0.486000|0.486000	0.48141|0.48141	ATA|AAT		0.647	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	14	0	0	0	0.001984	0	7	14				
ZXDA	7789	broad.mit.edu	37	X	57935082	57935082	+	Silent	SNP	G	G	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:57935082G>T	ENST00000358697.4	-	1	1985	c.1773C>A	c.(1771-1773)acC>acA	p.T591T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	591	Required for transcriptional activation.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T591T(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GTCTCTGGCTGGTAAGTTCAC	0.473																																							uc004dve.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1771-1773)ACC>ACA		zinc finger, X-linked, duplicated A							127.0	109.0	115.0					X																	57935082		2183	4296	6479	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935082G>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1773C>A	X.37:g.57935082G>T							p.T591T	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1986	-			591			Required for transcriptional activation.		Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.1773C>A	CCDS14376.1																																																																																				0.473	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		24	75	1	0	2.79863e-10	0.004656	2.94497e-10	24	75				
ATRX	546	broad.mit.edu	37	X	76872168	76872168	+	Silent	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:76872168A>G	ENST00000373344.5	-	22	5693	c.5479T>C	c.(5479-5481)Ttg>Ctg	p.L1827L	ATRX_ENST00000395603.3_Silent_p.L1789L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1827					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L1827L(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTGGAGGCAAGAATTTTGTT	0.313			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - coding silent(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(5479-5481)TTG>CTG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						123.0	108.0	113.0					X																	76872168		2202	4291	6493	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76872168A>G	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5479T>C	X.37:g.76872168A>G						ATRX_uc004ecq.3_Silent_p.L1789L|ATRX_uc004eco.3_Silent_p.L1612L	p.L1827L	NM_000489	NP_000480	P46100	ATRX_HUMAN			22	5711	-			1827					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.5479T>C	CCDS14434.1																																																																																				0.313	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		5	79	0	0	0	0.000602	0	5	79				
UTP14A	10813	broad.mit.edu	37	X	129059058	129059058	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:129059058C>T	ENST00000394422.3	+	12	1664	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	UTP14A_ENST00000371042.3_Missense_Mutation_p.P378S|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.P494S|UTP14A_ENST00000371051.5_Missense_Mutation_p.P492S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	546					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.P546S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAATAATCGCCCTGATGCCCC	0.478																																							uc004euz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1636-1638)CCT>TCT		UTP14, U3 small nucleolar ribonucleoprotein,							106.0	101.0	103.0					X																	129059058		2203	4300	6503	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129059058C>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1636C>T	X.37:g.129059058C>T	ENSP00000377944:p.Pro546Ser					UTP14A_uc011mup.1_Missense_Mutation_p.P494S|UTP14A_uc011muq.1_Missense_Mutation_p.P492S	p.P546S	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			12	1664	+			546					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1636C>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	C	7.711	0.695166	0.15039	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.18	-0.12	0.13539	.	0.676340	0.15558	N	0.256096	T	0.11965	0.0291	L	0.42245	1.32	0.09310	N	1	B;B;B	0.27013	0.013;0.016;0.166	B;B;B	0.28916	0.007;0.017;0.096	T	0.39014	-0.9634	10	0.11485	T	0.65	-0.458	7.6947	0.28587	0.5423:0.3776:0.0:0.0801	.	492;494;546	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	S	494;546;492;378	ENSP00000388669:P494S;ENSP00000377944:P546S;ENSP00000360090:P492S;ENSP00000360081:P378S	ENSP00000360081:P378S	P	+	1	0	UTP14A	128886739	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.317000	0.19487	-0.054000	0.13266	-0.222000	0.12452	CCT		0.478	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		19	97	0	0	0	0.010504	0	19	97				
RENBP	5973	broad.mit.edu	37	X	153209152	153209152	+	Missense_Mutation	SNP	C	C	A	rs34430440		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:153209152C>A	ENST00000393700.3	-	5	388	c.308G>T	c.(307-309)cGg>cTg	p.R103L	RENBP_ENST00000462086.1_5'Flank|RENBP_ENST00000369997.3_Missense_Mutation_p.R89L|RENBP_ENST00000412763.1_Missense_Mutation_p.R103L	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	103					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.R93L(1)|p.R103L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CCGGGCATACCGCAGCAAGAA	0.632																																							uc004fjo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(307-309)CGG>CTG		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						63.0	53.0	56.0					X																	153209152		2203	4300	6503	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209152C>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.308G>T	X.37:g.153209152C>A	ENSP00000377303:p.Arg103Leu					RENBP_uc011mzh.1_Missense_Mutation_p.R103L	p.R103L	NM_002910	NP_002901	P51606	RENBP_HUMAN			5	478	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		103					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.308G>T	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124824	0.56613	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.33216	1.42;1.45;1.42	4.66	3.78	0.43462	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.526064	0.19675	N	0.108658	T	0.30070	0.0753	M	0.82056	2.57	0.09310	N	1	P;P	0.44139	0.827;0.763	B;B	0.37989	0.233;0.262	T	0.47799	-0.9089	10	0.72032	D	0.01	-3.6504	3.8371	0.08899	0.0:0.5839:0.2137:0.2024	.	103;103	P51606-2;P51606	.;RENBP_HUMAN	L	103;103;89	ENSP00000377303:R103L;ENSP00000387811:R103L;ENSP00000359014:R89L	ENSP00000359014:R89L	R	-	2	0	RENBP	152862346	0.002000	0.14202	0.924000	0.36721	0.817000	0.46193	-0.090000	0.11163	1.894000	0.54839	0.513000	0.50165	CGG		0.632	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		23	53	1	0	1.1804e-14	0.003954	1.25857e-14	23	53				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																							uc001dfy.3		NA																	0				ovary(2)	2						c.(730-735)AAACAGfs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_uc001dfz.3_RNA	p.K244fs	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			5	924_925	-			244_245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		8	90	NA	NA	NA	NA	NA	8	90	---	---	---	---
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	CAC	CAC	-	-	CAC	CAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1					P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709																																							uc010bvw.2		NA																	0					NA						c.e7+1		SubName: Full=cDNA FLJ59085, highly similar to Polycystin-1;																																				SO:0001630	splice_region_variant	0							g.chr16:18441114_18441116delCAC		CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.4043+1GTG>-	16.37:g.18441117_18441119delCAC							p.V376_splice							7	1784	-									Splice_Site	DEL	ENST00000339303.5	37	c.1128_splice																																																																																					0.709	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	6	13	NA	NA	NA	NA	NA	6	13	---	---	---	---
AKAP8L	26993	broad.mit.edu	37	19	15491175	15491175	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:15491175delG	ENST00000397410.5	-	14	1829	c.1699delC	c.(1699-1701)ctgfs	p.L567fs	AKAP8_ENST00000269701.2_5'Flank|AC005785.2_ENST00000597164.2_RNA|AKAP8L_ENST00000595465.2_Frame_Shift_Del_p.L506fs	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	567						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTCGTCCAGGGCACCGCCC	0.741																																							uc002naw.1		NA																	0				ovary(1)	1						c.(1699-1701)CTGfs		A kinase (PRKA) anchor protein 8-like							8.0	9.0	9.0					19																	15491175		1986	4121	6107	SO:0001589	frameshift_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15491175delG	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1699delC	19.37:g.15491175delG	ENSP00000380557:p.Leu567fs					AKAP8_uc002nav.2_5'Flank|AKAP8_uc010xog.1_5'Flank|AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Frame_Shift_Del_p.L506fs	p.L567fs	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN			14	1798	-			567	EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048).				B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Frame_Shift_Del	DEL	ENST00000397410.5	37	c.1699delC	CCDS46005.1																																																																																				0.741	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219900304	219900305	+	In_Frame_Ins	INS	-	-	CCT			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:219900304_219900305insCCT	ENST00000341552.5	-	5	522_523	c.439_440insAGG	c.(439-441)gtg>gAGGtg	p.146_147insE	CCDC108_ENST00000295729.2_In_Frame_Ins_p.81_82insE|CCDC108_ENST00000324264.6_In_Frame_Ins_p.81_82insE|CCDC108_ENST00000410037.1_In_Frame_Ins_p.81_82insE|CCDC108_ENST00000409865.3_In_Frame_Ins_p.135_136insE|CCDC108_ENST00000441968.1_In_Frame_Ins_p.146_147insE|CCDC108_ENST00000453220.1_In_Frame_Ins_p.146_147insE	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	146						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTCAGCCACCTCAATGCCC	0.525																																							uc002vjl.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(439-441)GTG>GAGGTG		coiled-coil domain containing 108 isoform 1																																				SO:0001652	inframe_insertion	255101					integral to membrane	structural molecule activity	g.chr2:219900304_219900305insCCT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.437_439dupAGG	2.37:g.219900305_219900307dupCCT	ENSP00000340776:p.Glu146_Glu146dup					CCDC108_uc010zkp.1_In_Frame_Ins_p.135_136insE|CCDC108_uc010zkq.1_In_Frame_Ins_p.81_82insE|CCDC108_uc002vjn.2_In_Frame_Ins_p.81_82insE	p.146_147insE	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	523_524	-		Renal(207;0.0915)	146_147					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	In_Frame_Ins	INS	ENST00000341552.5	37	c.439_440insAGG	CCDS2430.2																																																																																				0.525	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		40	93	NA	NA	NA	NA	NA	40	93	---	---	---	---
