#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VPS13D	55187	broad.mit.edu	37	1	12336511	12336511	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:12336511C>T	ENST00000358136.3	+	19	2996	c.2866C>T	c.(2866-2868)Ctg>Ttg	p.L956L	VPS13D_ENST00000356315.4_Silent_p.L956L	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGCTCCTCCTGGCGGAATT	0.498											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2866-2868)CTG>TTG		vacuolar protein sorting 13D isoform 1							71.0	71.0	71.0					1																	12336511		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12336511C>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2866C>T	1.37:g.12336511C>T			OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	679	VPS13D_uc001atw.2_Silent_p.L956L|VPS13D_uc001atx.2_Silent_p.L144L	p.L956L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	19	3007	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	956						Silent	SNP	ENST00000358136.3	37	c.2866C>T	CCDS30588.1																																																																																				0.498	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		10	57	0	0	0	0	10	57				
SPEN	23013	broad.mit.edu	37	1	16262721	16262721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:16262721C>T	ENST00000375759.3	+	11	10190	c.9986C>T	c.(9985-9987)tCc>tTc	p.S3329F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3329	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCGCCGCTTCCTCTGTTGGC	0.632																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(9985-9987)TCC>TTC		spen homolog, transcriptional regulator							50.0	53.0	52.0					1																	16262721		2202	4295	6497	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16262721C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.9986C>T	1.37:g.16262721C>T	ENSP00000364912:p.Ser3329Phe					SPEN_uc010obp.1_Missense_Mutation_p.S3288F	p.S3329F	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	10190	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3329			Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.9986C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	6.674	0.492997	0.12702	.	.	ENSG00000065526	ENST00000375759	T	0.09723	2.95	5.03	5.03	0.67393	.	.	.	.	.	T	0.16981	0.0408	L	0.56769	1.78	0.09310	N	1	P	0.37955	0.612	B	0.37833	0.259	T	0.07597	-1.0764	9	0.56958	D	0.05	-5.7787	18.3517	0.90340	0.0:1.0:0.0:0.0	.	3329	Q96T58	MINT_HUMAN	F	3329	ENSP00000364912:S3329F	ENSP00000364912:S3329F	S	+	2	0	SPEN	16135308	0.485000	0.25972	0.022000	0.16811	0.003000	0.03518	4.323000	0.59221	2.303000	0.77524	0.563000	0.77884	TCC		0.632	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	57	0	0	0	0	7	57				
MACF1	23499	broad.mit.edu	37	1	39826464	39826464	+	Splice_Site	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:39826464G>C	ENST00000372915.3	+	47	12346		c.e47-1		MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGATTTTTCAGATTCCATACT	0.348																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.e12-1		microfilament and actin filament cross-linker							46.0	47.0	47.0					1																	39826464		2203	4300	6503	SO:0001630	splice_region_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39826464G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.12260-1G>C	1.37:g.39826464G>C						MACF1_uc010ois.1_Splice_Site_p.D2020_splice|MACF1_uc001cda.1_Splice_Site_p.D1928_splice|MACF1_uc001cdc.1_Splice_Site_p.D1107_splice|MACF1_uc001cdb.1_Splice_Site_p.D1107_splice	p.D2522_splice	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		12	7696	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Splice_Site	SNP	ENST00000372915.3	37	c.7565_splice		.	.	.	.	.	.	.	.	.	.	G	25.2	4.617836	0.87359	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000372925;ENST00000289893	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACF1	39599051	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.217000	0.89766	2.758000	0.94735	0.563000	0.77884	.		0.348	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	Intron	8	36	0	0	0	0	8	36				
FOXJ3	22887	broad.mit.edu	37	1	42744162	42744162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:42744162C>G	ENST00000372572.1	-	5	537	c.226G>C	c.(226-228)Gat>Cat	p.D76H	FOXJ3_ENST00000372573.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000361346.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000361776.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000545068.1_Missense_Mutation_p.D76H	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	76					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTTTCCCATCTTTGTGCTGT	0.388																																						uc001che.2		NA																	0				ovary(2)	2						c.(226-228)GAT>CAT		forkhead box J3							223.0	220.0	221.0					1																	42744162		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42744162C>G	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.226G>C	1.37:g.42744162C>G	ENSP00000361653:p.Asp76His					FOXJ3_uc001chf.2_Missense_Mutation_p.D76H|FOXJ3_uc001chg.2_Missense_Mutation_p.D76H|FOXJ3_uc001chh.1_Missense_Mutation_p.D76H	p.D76H	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			5	538	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	76					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.226G>C	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288531	0.80914	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000361346;ENST00000361776;ENST00000545068;ENST00000445886;ENST00000454417	D;D;D;D;D;D;D	0.96073	-3.37;-3.37;-3.37;-3.39;-3.37;-3.55;-3.9	5.52	5.52	0.82312	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.64402	D	0.000001	D	0.95778	0.8626	L	0.32530	0.975	0.80722	D	1	B;D	0.89917	0.224;1.0	B;D	0.83275	0.348;0.996	D	0.93931	0.7214	10	0.19590	T	0.45	.	16.9294	0.86186	0.0:1.0:0.0:0.0	.	76;76	Q9UPW0-2;Q9UPW0	.;FOXJ3_HUMAN	H	76;76;76;76;76;76;33	ENSP00000361654:D76H;ENSP00000361653:D76H;ENSP00000354620:D76H;ENSP00000354449:D76H;ENSP00000439044:D76H;ENSP00000393408:D76H;ENSP00000403060:D33H	ENSP00000354620:D76H	D	-	1	0	FOXJ3	42516749	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.587000	0.87381	0.557000	0.71058	GAT		0.388	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		15	78	0	0	0	0	15	78				
DMAP1	55929	broad.mit.edu	37	1	44685131	44685131	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:44685131C>G	ENST00000372289.2	+	7	1223	c.960C>G	c.(958-960)gtC>gtG	p.V320V	DMAP1_ENST00000361745.6_Silent_p.V320V|DMAP1_ENST00000315913.5_Silent_p.V320V|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	320					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CTGCAGGTGTCACGCTGCGGA	0.582																																						uc001clq.1		NA																	0					0						c.(958-960)GTC>GTG		DNA methyltransferase 1 associated protein 1							88.0	77.0	81.0					1																	44685131		2203	4300	6503	SO:0001819	synonymous_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44685131C>G	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.960C>G	1.37:g.44685131C>G						DMAP1_uc001clr.1_Silent_p.V320V|DMAP1_uc001cls.1_Silent_p.V320V|DMAP1_uc010oku.1_Silent_p.V310V	p.V320V	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN			8	1040	+	Acute lymphoblastic leukemia(166;0.155)		320					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	c.960C>G	CCDS509.1																																																																																				0.582	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		9	29	0	0	0	0	9	29				
CYP4B1	1580	broad.mit.edu	37	1	47264771	47264771	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:47264771C>T	ENST00000271153.4	+	1	54	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CYP4B1_ENST00000371923.4_Silent_p.L6L|CYP4B1_ENST00000371919.4_Silent_p.L6L|CYP4B1_ENST00000546128.1_Intron			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	6					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCAGCTTCCTCTCCCTGAGCT	0.572																																						uc001cqm.3		NA																	0				ovary(1)|skin(1)	2						c.(16-18)CTC>CTT		cytochrome P450, family 4, subfamily B,							103.0	91.0	95.0					1																	47264771		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47264771C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.18C>T	1.37:g.47264771C>T						CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqn.3_Silent_p.L6L|CYP4B1_uc009vym.2_Silent_p.L6L|CYP4B1_uc010omk.1_5'UTR	p.L6L	NM_000779	NP_000770	P13584	CP4B1_HUMAN			1	102	+	Acute lymphoblastic leukemia(166;0.155)		6					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.18C>T	CCDS542.1																																																																																				0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		4	22	0	0	0	0	4	22				
ZFYVE9	9372	broad.mit.edu	37	1	52729530	52729530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:52729530C>G	ENST00000371591.1	+	4	2395	c.2264C>G	c.(2263-2265)tCa>tGa	p.S755*	ZFYVE9_ENST00000287727.3_Nonsense_Mutation_p.S755*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.S755*	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	755					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATCTGCCATTCAGTGCTAATG	0.418																																						uc001cto.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(2263-2265)TCA>TGA		zinc finger, FYVE domain containing 9 isoform 3							78.0	79.0	79.0					1																	52729530		2203	4300	6503	SO:0001587	stop_gained	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52729530C>G	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2264C>G	1.37:g.52729530C>G	ENSP00000360647:p.Ser755*					ZFYVE9_uc001ctn.2_Nonsense_Mutation_p.S755*|ZFYVE9_uc001ctp.2_Nonsense_Mutation_p.S755*	p.S755*	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			5	2436	+			755			FYVE-type.		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Nonsense_Mutation	SNP	ENST00000371591.1	37	c.2264C>G	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	38	6.877251	0.97904	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	.	.	.	5.17	5.17	0.71159	.	0.090549	0.46758	D	0.000279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.8558	0.92251	0.0:1.0:0.0:0.0	.	.	.	.	X	755	.	ENSP00000287727:S755X	S	+	2	0	ZFYVE9	52502118	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.338000	0.59316	2.683000	0.91414	0.655000	0.94253	TCA		0.418	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		5	23	0	0	0	0	5	23				
USP1	7398	broad.mit.edu	37	1	62905655	62905655	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:62905655C>G	ENST00000339950.4	+	2	932	c.117C>G	c.(115-117)ttC>ttG	p.F39L	USP1_ENST00000371146.1_Missense_Mutation_p.F39L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	39					DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CTTTGGATTTCACAGATTCTC	0.318																																					Ovarian(122;1846 2315 3982 19504)	uc001daj.1		NA																	0				ovary(1)	1						c.(115-117)TTC>TTG		ubiquitin specific protease 1							44.0	51.0	49.0					1																	62905655		2200	4297	6497	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62905655C>G		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.117C>G	1.37:g.62905655C>G	ENSP00000343526:p.Phe39Leu					USP1_uc001dak.1_Missense_Mutation_p.F39L|USP1_uc001dal.1_Missense_Mutation_p.F39L	p.F39L	NM_001017415	NP_001017415	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	2	445	+		all_neural(321;0.0281)	39					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.117C>G	CCDS621.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004990	0.74932	.	.	ENSG00000162607	ENST00000452143;ENST00000442679;ENST00000371146;ENST00000339950	T;T;T	0.48836	0.8;2.18;2.18	5.56	2.53	0.30540	.	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	L	0.29908	0.895	0.44462	D	0.997394	P	0.52316	0.952	P	0.49332	0.607	T	0.21724	-1.0237	10	0.72032	D	0.01	-9.0901	7.7735	0.29023	0.0:0.5682:0.0:0.4318	.	39	O94782	UBP1_HUMAN	L	39	ENSP00000403662:F39L;ENSP00000360188:F39L;ENSP00000343526:F39L	ENSP00000343526:F39L	F	+	3	2	USP1	62678243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.880000	0.28159	0.242000	0.21303	0.585000	0.79938	TTC		0.318	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		15	74	0	0	0	0	15	74				
USP33	23032	broad.mit.edu	37	1	78207408	78207408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:78207408C>T	ENST00000370793.1	-	3	414	c.68G>A	c.(67-69)gGg>gAg	p.G23E	USP33_ENST00000370794.3_5'UTR|USP33_ENST00000370792.3_Missense_Mutation_p.G23E|USP33_ENST00000528150.1_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.G23E	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	23					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTCCTGTTTCCCAAGACTTTC	0.289																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NA																	0				lung(2)|ovary(1)	3						c.(67-69)GGG>GAG		ubiquitin specific protease 33 isoform 1							34.0	36.0	35.0					1																	78207408		2203	4289	6492	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78207408C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.68G>A	1.37:g.78207408C>T	ENSP00000359829:p.Gly23Glu					USP33_uc001dhu.2_5'UTR|USP33_uc001dhv.2_5'Flank|USP33_uc001dhw.2_Missense_Mutation_p.G23E	p.G23E	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			3	415	-			23					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.68G>A	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410350	0.25465	.	.	ENSG00000077254	ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536;ENST00000530709	T;T;T;T	0.30182	3.0;3.0;3.0;1.54	5.61	1.55	0.23275	.	0.393750	0.19198	N	0.120259	T	0.03827	0.0108	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.44682	-0.9312	10	0.02654	T	1	.	8.9747	0.35928	0.0:0.6869:0.0:0.3131	.	23;23	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	E	23	ENSP00000359829:G23E;ENSP00000350009:G23E;ENSP00000359828:G23E;ENSP00000434441:G23E	ENSP00000350009:G23E	G	-	2	0	USP33	77979996	0.000000	0.05858	0.972000	0.41901	0.854000	0.48673	0.002000	0.13061	0.374000	0.24650	0.557000	0.71058	GGG		0.289	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		3	24	0	0	0	0	3	24				
HFM1	164045	broad.mit.edu	37	1	91727882	91727882	+	Missense_Mutation	SNP	G	G	C	rs190831701		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:91727882G>C	ENST00000370425.3	-	38	4252	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	Y_RNA_ENST00000384090.1_RNA|HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S1064C|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1385					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTTTTCAGAGAAAGTAAA	0.279													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15193	0.0		0.0	False		,,,				2504	0.0					uc001doa.3		NA																	0					0						c.(4153-4155)TCT>TGT		HFM1 protein							60.0	61.0	61.0					1																	91727882		1940	4166	6106	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91727882G>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4154C>G	1.37:g.91727882G>C	ENSP00000359454:p.Ser1385Cys					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.S1064C|HFM1_uc001dob.3_Missense_Mutation_p.S573C	p.S1385C	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	38	4254	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1385					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.4154C>G	CCDS30769.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	G|G	7.798|7.798	0.712937|0.712937	0.15306|0.15306	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000370424	.|T;T	.|0.70869	.|0.0;-0.52	4.73|4.73	2.86|2.86	0.33363|0.33363	.|.	.|1.914000	.|0.02356	.|N	.|0.076368	T|T	0.56558|0.56558	0.1993|0.1993	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999997|0.999997	.|D;D	.|0.63046	.|0.992;0.983	.|P;P	.|0.52710	.|0.707;0.635	T|T	0.49707|0.49707	-0.8911|-0.8911	5|10	.|0.66056	.|D	.|0.02	.|.	7.3718|7.3718	0.26806|0.26806	0.0874:0.0:0.7461:0.1665|0.0874:0.0:0.7461:0.1665	.|.	.|596;1385	.|B1B0B5;A2PYH4	.|.;HFM1_HUMAN	V|C	597|1385;1064	.|ENSP00000359454:S1385C;ENSP00000359453:S1064C	.|ENSP00000359453:S1064C	L|S	-|-	1|2	2|0	HFM1|HFM1	91500470|91500470	0.041000|0.041000	0.20044|0.20044	0.004000|0.004000	0.12327|0.12327	0.001000|0.001000	0.01503|0.01503	1.917000|1.917000	0.39996|0.39996	0.720000|0.720000	0.32209|0.32209	-0.379000|-0.379000	0.06801|0.06801	CTG|TCT		0.279	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		21	84	0	0	0	0	21	84				
ABCA4	24	broad.mit.edu	37	1	94526123	94526123	+	Missense_Mutation	SNP	C	C	T	rs267598777		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:94526123C>T	ENST00000370225.3	-	14	2216	c.2130G>A	c.(2128-2130)atG>atA	p.M710I	ABCA4_ENST00000535735.1_Missense_Mutation_p.M710I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	710					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAAGATGCTCATCGACATGA	0.463																																						uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(2128-2130)ATG>ATA		ATP-binding cassette, sub-family A member 4							145.0	130.0	135.0					1																	94526123		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94526123C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2130G>A	1.37:g.94526123C>T	ENSP00000359245:p.Met710Ile					ABCA4_uc010otn.1_Missense_Mutation_p.M710I	p.M710I	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	14	2234	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	710			Helical; (Potential).		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2130G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899091	0.33535	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.87179	-1.8;-2.22	5.9	4.94	0.65067	.	0.295596	0.39475	N	0.001352	T	0.45337	0.1337	N	0.00514	-1.41	0.40083	D	0.976166	B;B	0.17038	0.02;0.0	B;B	0.20577	0.03;0.0	T	0.57516	-0.7798	10	0.06236	T	0.91	.	15.0622	0.71964	0.0:0.7411:0.2589:0.0	.	710;710	F5H6E5;P78363	.;ABCA4_HUMAN	I	710	ENSP00000359245:M710I;ENSP00000437682:M710I	ENSP00000359245:M710I	M	-	3	0	ABCA4	94298711	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.779000	0.26746	2.808000	0.96608	0.650000	0.86243	ATG		0.463	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		20	75	0	0	0	0	20	75				
ARHGAP29	9411	broad.mit.edu	37	1	94652141	94652141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:94652141C>T	ENST00000260526.6	-	16	1876	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	565					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGGAAGTTTTCGATGAAAGTC	0.388																																						uc001dqj.3		NA																	0				breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(1693-1695)CGA>CAA		PTPL1-associated RhoGAP 1							160.0	159.0	160.0					1																	94652141		2203	4300	6503	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94652141C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1694G>A	1.37:g.94652141C>T	ENSP00000260526:p.Arg565Gln					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Missense_Mutation_p.R131Q	p.R565Q	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	16	2063	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	565					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.1694G>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795381	0.90453	.	.	ENSG00000137962	ENST00000260526	T	0.26373	1.74	6.08	4.21	0.49690	.	0.266963	0.20124	N	0.098732	T	0.18882	0.0453	L	0.57536	1.79	0.80722	D	1	P;P	0.52463	0.545;0.953	B;P	0.45276	0.039;0.475	T	0.02498	-1.1150	10	0.51188	T	0.08	-8.111	13.16	0.59538	0.0:0.8697:0.0:0.1303	.	565;565	F8VWZ8;Q52LW3	.;RHG29_HUMAN	Q	565	ENSP00000260526:R565Q	ENSP00000260526:R565Q	R	-	2	0	ARHGAP29	94424729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.481000	0.66826	1.594000	0.50039	0.655000	0.94253	CGA		0.388	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		36	97	0	0	0	0	36	97				
RWDD3	25950	broad.mit.edu	37	1	95710026	95710026	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:95710026C>A	ENST00000370202.4	+	2	421	c.345C>A	c.(343-345)ctC>ctA	p.L115L	RWDD3_ENST00000429514.2_Silent_p.L100L|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Silent_p.L115L|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	115					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		GGCATATCCTCAGCCAACCAG	0.443																																						uc009wdu.2		NA																	0				ovary(1)	1						c.(343-345)CTC>CTA		RWD domain containing 3 isoform a							102.0	99.0	100.0					1																	95710026		1953	4131	6084	SO:0001819	synonymous_variant	25950					cytoplasm|nucleus	protein binding	g.chr1:95710026C>A	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.345C>A	1.37:g.95710026C>A						RWDD3_uc001drd.3_3'UTR|RWDD3_uc010oty.1_Silent_p.L100L|RWDD3_uc009wdt.2_Silent_p.L115L|RWDD3_uc001drf.3_Silent_p.L115L|RWDD3_uc001drh.3_Silent_p.L100L|RWDD3_uc009wdv.2_Intron|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Silent_p.L115L	p.L115L	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	2	421	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	115					A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Silent	SNP	ENST00000370202.4	37	c.345C>A	CCDS41357.1																																																																																				0.443	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		13	46	1	0	6.72e-11	9.95e-11	13	46				
DPYD	1806	broad.mit.edu	37	1	97564048	97564048	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:97564048G>T	ENST00000370192.3	-	21	2863	c.2763C>A	c.(2761-2763)atC>atA	p.I921I	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	921					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTTTTACCTTGATGGTAGGAA	0.289																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2761-2763)ATC>ATA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						145.0	153.0	151.0					1																	97564048		2203	4300	6503	SO:0001819	synonymous_variant	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564048G>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2763C>A	1.37:g.97564048G>T							p.I921I	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2900	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	921					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	ENST00000370192.3	37	c.2763C>A	CCDS30777.1																																																																																				0.289	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		22	68	1	0	5.35e-06	7.53e-06	22	68				
DPYD	1806	broad.mit.edu	37	1	98039322	98039322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:98039322G>A	ENST00000370192.3	-	11	1433	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	445					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GTACCTTTAGGATCACTCAGA	0.398																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(1333-1335)CCT>TCT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						187.0	162.0	170.0					1																	98039322		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98039322G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1333C>T	1.37:g.98039322G>A	ENSP00000359211:p.Pro445Ser						p.P445S	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	11	1470	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	445					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1333C>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286406	0.40494	.	.	ENSG00000188641	ENST00000370192	D	0.88818	-2.43	5.81	5.81	0.92471	.	0.057032	0.64402	D	0.000001	T	0.75140	0.3809	L	0.32530	0.975	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.69628	-0.5094	10	0.22706	T	0.39	-7.4293	13.9123	0.63876	0.0:0.0:0.8481:0.1519	.	445	Q12882	DPYD_HUMAN	S	445	ENSP00000359211:P445S	ENSP00000359211:P445S	P	-	1	0	DPYD	97811910	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.444000	0.44890	2.737000	0.93849	0.650000	0.86243	CCT		0.398	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		24	77	0	0	0	0	24	77				
ANKRD35	148741	broad.mit.edu	37	1	145560245	145560245	+	Missense_Mutation	SNP	G	G	A	rs146006151	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:145560245G>A	ENST00000355594.4	+	8	818	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	244										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGAGCCGGCGGCGGCGG	0.552													G|||	3	0.000599042	0.0023	0.0	5008	,	,		19191	0.0		0.0	False		,,,				2504	0.0				Melanoma(9;127 754 22988 51047)	uc001eob.1		NA																	0				ovary(4)|skin(1)	5						c.(730-732)CGG>CAG		ankyrin repeat domain 35		G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	40.0	45.0	43.0		731	5.9	0.8	1	dbSNP_134	43	0,8600		0,0,4300	yes	missense	ANKRD35	NM_144698.3	43	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging	244/1002	145560245	5,13001	2203	4300	6503	SO:0001583	missense	148741							g.chr1:145560245G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.731G>A	1.37:g.145560245G>A	ENSP00000347802:p.Arg244Gln					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.R87Q	p.R244Q	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			8	839	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		244			ANK 6.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.731G>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222591	0.39300	0.001135	0.0	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.68025	-0.3	5.95	5.95	0.96441	.	0.147839	0.31601	N	0.007377	T	0.62405	0.2425	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.55545	0.778	T	0.62378	-0.6867	10	0.44086	T	0.13	-13.9361	15.8933	0.79318	0.0:0.0:1.0:0.0	.	244	Q8N283	ANR35_HUMAN	Q	153;244	ENSP00000347802:R244Q	ENSP00000347802:R244Q	R	+	2	0	ANKRD35	144271602	0.766000	0.28496	0.828000	0.32881	0.092000	0.18411	3.366000	0.52343	2.824000	0.97209	0.655000	0.94253	CGG		0.552	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		17	62	0	0	0	0	17	62				
HIST2H3D	653604	broad.mit.edu	37	1	149785051	149785051	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:149785051C>G	ENST00000331491.1	-	1	185	c.186G>C	c.(184-186)ctG>ctC	p.L62L	HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	62					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCTTGCGGATCAGCAGCTCCG	0.692																																						uc010pbl.1		NA																	0					0						c.(184-186)CTG>CTC		histone cluster 2, H3d							14.0	17.0	16.0					1																	149785051		1341	3225	4566	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785051C>G	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.186G>C	1.37:g.149785051C>G						HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.L62L	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	186	-			62					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.186G>C	CCDS41388.1																																																																																				0.692	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		12	29	0	0	0	0	12	29				
INSRR	3645	broad.mit.edu	37	1	156821804	156821804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:156821804G>A	ENST00000368195.3	-	3	1213	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	273					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGACACAGCGCCAGGACTCA	0.662																																						uc010pht.1		NA																	0				lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(817-819)CGC>TGC		insulin receptor-related receptor precursor							25.0	24.0	24.0					1																	156821804		2203	4298	6501	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821804G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.817C>T	1.37:g.156821804G>A	ENSP00000357178:p.Arg273Cys					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.R273C	p.R273C	NM_014215	NP_055030	P14616	INSRR_HUMAN			3	1071	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		273					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.817C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740289	0.89573	.	.	ENSG00000027644	ENST00000368195	T	0.30714	1.52	4.62	4.62	0.57501	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.42172	D	0.000746	T	0.50292	0.1607	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56733	-0.7930	9	0.87932	D	0	.	16.2504	0.82481	0.0:0.0:1.0:0.0	.	273	P14616	INSRR_HUMAN	C	273	ENSP00000357178:R273C	ENSP00000357178:R273C	R	-	1	0	INSRR	155088428	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.679000	0.84048	2.419000	0.82065	0.456000	0.33151	CGC		0.662	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		10	32	0	0	0	0	10	32				
PIGM	93183	broad.mit.edu	37	1	160001446	160001446	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:160001446G>A	ENST00000368090.2	-	1	337	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	28					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCGACTCTGGCTAGAAAGG	0.607																																						uc001fuv.1		NA																	0				ovary(2)|skin(1)	3						c.(82-84)GCC>GCT		phosphatidylinositol glycan anchor biosynthesis,							67.0	74.0	72.0					1																	160001446		2203	4300	6503	SO:0001819	synonymous_variant	93183				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr1:160001446G>A	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.84C>T	1.37:g.160001446G>A							p.A28A	NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	338	-	all_hematologic(112;0.093)		28			Helical; (Potential).			Silent	SNP	ENST00000368090.2	37	c.84C>T	CCDS1192.1																																																																																				0.607	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		30	77	0	0	0	0	30	77				
ALDH9A1	223	broad.mit.edu	37	1	165664528	165664528	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:165664528C>A	ENST00000354775.4	-	2	592	c.288G>T	c.(286-288)gaG>gaT	p.E96D	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.E2D	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	72					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCGGCAACGCTCCATGCCAG	0.398																																					Ovarian(179;1583 2014 18106 33801 42447)	uc001gdh.1		NA																	0					0						c.(286-288)GAG>GAT		aldehyde dehydrogenase 9A1	NADH(DB00157)						97.0	95.0	95.0					1																	165664528		2203	4300	6503	SO:0001583	missense	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165664528C>A	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.288G>T	1.37:g.165664528C>A	ENSP00000346827:p.Glu96Asp					ALDH9A1_uc010pky.1_Missense_Mutation_p.E2D|ALDH9A1_uc010pkz.1_Missense_Mutation_p.E86D|ALDH9A1_uc010pla.1_Missense_Mutation_p.E2D	p.E96D	NM_000696	NP_000687	P49189	AL9A1_HUMAN			2	393	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		72					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.288G>T	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970238	0.53614	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	T;T	0.79033	-1.23;-1.23	5.44	2.57	0.30868	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.045714	0.85682	D	0.000000	T	0.72053	0.3413	L	0.40543	1.245	0.49483	D	0.999793	D;B;B;B	0.63880	0.993;0.042;0.075;0.042	D;B;B;B	0.70935	0.971;0.066;0.046;0.066	T	0.72054	-0.4406	9	0.45353	T	0.12	.	9.0752	0.36517	0.0:0.7577:0.0:0.2423	.	2;86;72;96	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	D	96;2	ENSP00000346827:E96D;ENSP00000440026:E2D	ENSP00000346827:E96D	E	-	3	2	ALDH9A1	163931152	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	0.895000	0.28363	0.275000	0.22094	0.655000	0.94253	GAG		0.398	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			18	34	1	0	3.53e-06	4.99e-06	18	34				
ILDR2	387597	broad.mit.edu	37	1	166891884	166891884	+	Missense_Mutation	SNP	C	C	T	rs201864196		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:166891884C>T	ENST00000271417.3	-	8	1212	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	ILDR2_ENST00000529071.1_Missense_Mutation_p.R367H|ILDR2_ENST00000528703.1_Missense_Mutation_p.R327H|ILDR2_ENST00000525740.1_Missense_Mutation_p.R259H|ILDR2_ENST00000469934.2_Missense_Mutation_p.R386H|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Missense_Mutation_p.R278H	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	386					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R386L(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGAGGGCCCGCGGCTTGCCCC	0.582																																						uc001gdx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1156-1158)CGC>CAC		immunoglobulin-like domain containing receptor		C	HIS/ARG	0,4406		0,0,2203	171.0	182.0	178.0		1157	2.7	1.0	1		178	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ILDR2	NM_199351.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	386/640	166891884	1,13005	2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166891884C>T	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1157G>A	1.37:g.166891884C>T	ENSP00000271417:p.Arg386His						p.R386H	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			8	1213	-			386			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.1157G>A	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907788	0.33721	0.0	1.16E-4	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.80480	0.25;-1.38;0.38;0.23;-1.38;-0.36	4.71	2.69	0.31865	.	0.251901	0.31834	N	0.007000	T	0.46502	0.1396	L	0.31294	0.92	0.28591	N	0.909664	B	0.18968	0.032	B	0.12156	0.007	T	0.25257	-1.0137	10	0.25751	T	0.34	.	6.0012	0.19521	0.0:0.7637:0.0:0.2363	.	386	Q71H61	ILDR2_HUMAN	H	386;259;386;367;278;327	ENSP00000271417:R386H;ENSP00000436120:R259H;ENSP00000437008:R386H;ENSP00000436882:R367H;ENSP00000434273:R278H;ENSP00000432750:R327H	ENSP00000271417:R386H	R	-	2	0	ILDR2	165158508	0.994000	0.37717	1.000000	0.80357	0.818000	0.46254	1.365000	0.34182	1.203000	0.43233	-0.224000	0.12420	CGC		0.582	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		47	225	0	0	0	0	47	225				
CACNA1E	777	broad.mit.edu	37	1	181727186	181727186	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:181727186C>T	ENST00000367573.2	+	31	4433	c.4433C>T	c.(4432-4434)cCg>cTg	p.P1478L	CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1085L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.P1459L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1410L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1459L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1429L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1478L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1478					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.P1478L(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGGTGTCTCCGTCCTTTGAG	0.557																																						uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4432-4434)CCG>CTG		calcium channel, voltage-dependent, R type,							128.0	133.0	131.0					1																	181727186		2153	4243	6396	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181727186C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4433C>T	1.37:g.181727186C>T	ENSP00000356545:p.Pro1478Leu					CACNA1E_uc009wxs.2_Missense_Mutation_p.P1366L|CACNA1E_uc001gox.1_Missense_Mutation_p.P704L|CACNA1E_uc009wxt.2_Missense_Mutation_p.P704L	p.P1478L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			31	4598	+			1478			IV.|Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.4433C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911280	0.92178	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	M	0.77103	2.36	0.80722	D	1	P;D;D	0.89917	0.822;0.972;1.0	P;D;D	0.91635	0.516;0.914;0.999	D	0.99862	1.1084	10	0.87932	D	0	.	18.5085	0.90907	0.0:1.0:0.0:0.0	.	1459;1478;1478	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	L	1478;1459;1429;1410;1085;1459;1478	ENSP00000356542:P1478L;ENSP00000434814:P1459L;ENSP00000350183:P1429L;ENSP00000351101:P1410L;ENSP00000356539:P1085L;ENSP00000353222:P1459L;ENSP00000356545:P1478L	ENSP00000350183:P1429L	P	+	2	0	CACNA1E	179993809	1.000000	0.71417	0.172000	0.22920	0.948000	0.59901	7.711000	0.84669	2.465000	0.83290	0.655000	0.94253	CCG		0.557	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		20	85	0	0	0	0	20	85				
ATP2B4	493	broad.mit.edu	37	1	203696681	203696681	+	Silent	SNP	G	G	A	rs113186728	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:203696681G>A	ENST00000357681.5	+	20	4414	c.3291G>A	c.(3289-3291)ctG>ctA	p.L1097L	ATP2B4_ENST00000341360.2_Silent_p.L1097L|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000391954.2_Silent_p.L1061L|SNORA77_ENST00000408716.1_RNA|ATP2B4_ENST00000367218.3_Silent_p.L1097L|ATP2B4_ENST00000367219.3_Silent_p.L1085L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1097	Calmodulin-binding subdomain A.				blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCGGGGCCTGAACCGTATCC	0.562																																						uc001gzw.2		NA																	0				ovary(2)|skin(1)	3						c.(3289-3291)CTG>CTA		plasma membrane calcium ATPase 4 isoform 4b							132.0	119.0	123.0					1																	203696681		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203696681G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3291G>A	1.37:g.203696681G>A						ATP2B4_uc001gzv.2_Silent_p.L1097L|ATP2B4_uc009xaq.2_Silent_p.L1097L|ATP2B4_uc001gzx.2_Silent_p.L128L|ATP2B4_uc009xar.2_Silent_p.L92L|ATP2B4_uc010pqj.1_RNA|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	p.L1097L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		20	4175	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1097			Cytoplasmic (Potential).|Calmodulin-binding subdomain A.		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.3291G>A	CCDS1440.1																																																																																				0.562	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		32	75	0	0	0	0	32	75				
VASH2	79805	broad.mit.edu	37	1	213147383	213147383	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:213147383C>T	ENST00000517399.1	+	6	966	c.966C>T	c.(964-966)ccC>ccT	p.P322P	VASH2_ENST00000366967.2_Silent_p.P218P|VASH2_ENST00000366968.4_Silent_p.P257P|VASH2_ENST00000366966.2_Silent_p.P257P|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366965.2_Silent_p.P278P			Q86V25	VASH2_HUMAN	vasohibin 2	322					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGGCAAGCCCCCCGAGGAGGC	0.577																																						uc001hjy.2		NA																	0					0						c.(964-966)CCC>CCT		vasohibin 2 isoform 3							42.0	49.0	47.0					1																	213147383		2203	4300	6503	SO:0001819	synonymous_variant	79805				positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213147383C>T	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.966C>T	1.37:g.213147383C>T						VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Silent_p.P257P|VASH2_uc010ptn.1_Silent_p.P218P|VASH2_uc001hjw.2_Silent_p.P278P	p.P322P	NM_001136475	NP_001129947	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	6	1170	+			322					B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	ENST00000517399.1	37	c.966C>T	CCDS1511.1																																																																																				0.577	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1	NM_024749		5	56	0	0	0	0	5	56				
FAM89A	375061	broad.mit.edu	37	1	231155686	231155686	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:231155686C>G	ENST00000366654.4	-	2	512	c.478G>C	c.(478-480)Gac>Cac	p.D160H	FAM89A_ENST00000494111.1_5'UTR|MIR1182_ENST00000408363.1_RNA	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	160										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGCCTCGGTCCCTCCTGTCG	0.587																																						uc001hui.2		NA																	0					0						c.(478-480)GAC>CAC		family with sequence similarity 89, member A							86.0	84.0	85.0					1																	231155686		2203	4300	6503	SO:0001583	missense	375061							g.chr1:231155686C>G	BC009447	CCDS1590.1	1q42.2	2008-02-05	2005-09-13	2005-09-13	ENSG00000182118	ENSG00000182118			25057	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 153"""	C1orf153		12477932	Standard	NM_198552		Approved	MGC15887	uc001hui.2	Q96GI7	OTTHUMG00000037960	ENST00000366654.4:c.478G>C	1.37:g.231155686C>G	ENSP00000355614:p.Asp160His					FAM89A_uc009xfm.2_Missense_Mutation_p.D171H|MIR1182_hsa-mir-1182|MI0006275_5'Flank	p.D160H	NM_198552	NP_940954	Q96GI7	FA89A_HUMAN			2	516	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	160						Missense_Mutation	SNP	ENST00000366654.4	37	c.478G>C	CCDS1590.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862096	0.51482	.	.	ENSG00000182118	ENST00000366654	.	.	.	5.85	1.77	0.24775	.	0.863856	0.10262	N	0.695850	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22138	-1.0225	9	0.42905	T	0.14	0.2801	2.8155	0.05454	0.1206:0.3493:0.3433:0.1868	.	160	Q96GI7	FA89A_HUMAN	H	160	.	ENSP00000355614:D160H	D	-	1	0	FAM89A	229222309	.	.	0.000000	0.03702	0.922000	0.55478	.	.	0.135000	0.18707	0.643000	0.83706	GAC		0.587	FAM89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092652.1	NM_198552		27	66	0	0	0	0	27	66				
OR13A1	79290	broad.mit.edu	37	10	45799190	45799190	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:45799190C>T	ENST00000553795.1	-	4	989	c.681G>A	c.(679-681)gtG>gtA	p.V227V	OR13A1_ENST00000374401.2_Silent_p.V227V|OR13A1_ENST00000536058.1_Silent_p.V227V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCAGGAAGTTCACTATGCCGT	0.552																																						uc001jcc.1		NA																	0					0						c.(679-681)GTG>GTA		olfactory receptor, family 13, subfamily A,							94.0	91.0	92.0					10																	45799190		2203	4300	6503	SO:0001819	synonymous_variant	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799190C>T	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.681G>A	10.37:g.45799190C>T						OR13A1_uc001jcd.1_Silent_p.V223V	p.V227V	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN			4	990	-			227			Helical; Name=5; (Potential).		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	ENST00000553795.1	37	c.681G>A	CCDS31188.1																																																																																				0.552	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		14	83	0	0	0	0	14	83				
CYP2C19	1557	broad.mit.edu	37	10	96541716	96541716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:96541716C>G	ENST00000371321.3	+	5	863	c.781C>G	c.(781-783)Cgg>Ggg	p.R261G	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	261					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CAACAACCCTCGGGACTTTAT	0.353																																						uc010qnz.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(781-783)CGG>GGG		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						114.0	112.0	113.0					10																	96541716		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96541716C>G	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.781C>G	10.37:g.96541716C>G	ENSP00000360372:p.Arg261Gly					CYP2C19_uc009xus.1_Missense_Mutation_p.R126G|CYP2C19_uc010qny.1_Missense_Mutation_p.R239G	p.R261G	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	5	781	+		Colorectal(252;0.09)	261					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.781C>G	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346583	0.41599	.	.	ENSG00000165841	ENST00000371321	T	0.71222	-0.55	4.02	0.867	0.19085	.	0.277859	0.29080	U	0.013208	T	0.81635	0.4864	M	0.92649	3.33	0.27168	N	0.960994	D	0.62365	0.991	P	0.61800	0.894	T	0.71958	-0.4435	10	0.87932	D	0	.	4.039	0.09743	0.2953:0.529:0.0:0.1756	.	261	P33261	CP2CJ_HUMAN	G	261	ENSP00000360372:R261G	ENSP00000360372:R261G	R	+	1	2	CYP2C19	96531706	0.995000	0.38212	0.984000	0.44739	0.689000	0.40095	1.297000	0.33400	0.373000	0.24621	0.508000	0.49915	CGG		0.353	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		22	47	0	0	0	0	22	47				
MGEA5	10724	broad.mit.edu	37	10	103563684	103563684	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:103563684G>C	ENST00000361464.3	-	7	1239	c.844C>G	c.(844-846)Cat>Gat	p.H282D	MGEA5_ENST00000439817.1_Missense_Mutation_p.H282D|MGEA5_ENST00000357797.5_Missense_Mutation_p.H282D|MGEA5_ENST00000370094.3_Missense_Mutation_p.H282D	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	282					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCATTAGCATGAATGTTATCC	0.398																																						uc001ktv.2		NA																	0				ovary(2)|skin(1)	3						c.(844-846)CAT>GAT		meningioma expressed antigen 5 (hyaluronidase)							148.0	147.0	147.0					10																	103563684		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103563684G>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.844C>G	10.37:g.103563684G>C	ENSP00000354850:p.His282Asp					MGEA5_uc010qqe.1_Missense_Mutation_p.H282D|MGEA5_uc009xws.2_Missense_Mutation_p.H282D|MGEA5_uc001ktw.2_Missense_Mutation_p.H282D|MGEA5_uc009xwt.2_Intron	p.H282D	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	7	1287	-		Colorectal(252;0.207)	282					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.844C>G	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102775	0.94245	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.37752	1.31;1.21;1.33;1.18	5.82	5.82	0.92795	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	M	0.85542	2.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.999	T	0.70015	-0.4988	10	0.62326	D	0.03	-17.0882	20.099	0.97865	0.0:0.0:1.0:0.0	.	282;282;282;282	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	D	282;282;282;282;197	ENSP00000409973:H282D;ENSP00000354850:H282D;ENSP00000350445:H282D;ENSP00000359112:H282D	ENSP00000350445:H282D	H	-	1	0	MGEA5	103553674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.799000	0.99117	2.752000	0.94435	0.655000	0.94253	CAT		0.398	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		28	117	0	0	0	0	28	117				
CNNM2	54805	broad.mit.edu	37	10	104678683	104678683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:104678683G>C	ENST00000369878.4	+	1	634	c.446G>C	c.(445-447)cGa>cCa	p.R149P	CNNM2_ENST00000433628.2_Missense_Mutation_p.R149P|CNNM2_ENST00000369875.3_Missense_Mutation_p.R149P	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	149					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGCCCCCAGCGATGCGGCATC	0.692																																						uc001kwm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(445-447)CGA>CCA		cyclin M2 isoform 1							66.0	75.0	72.0					10																	104678683		2196	4295	6491	SO:0001583	missense	54805				ion transport	integral to membrane		g.chr10:104678683G>C	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.446G>C	10.37:g.104678683G>C	ENSP00000358894:p.Arg149Pro					CNNM2_uc001kwn.2_Missense_Mutation_p.R149P|CNNM2_uc001kwl.2_Missense_Mutation_p.R149P	p.R149P	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	1	570	+		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)	149					Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	37	c.446G>C	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208733	0.22205	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.74526	-0.68;-0.85;-0.68	4.81	3.9	0.45041	.	0.340767	0.28312	N	0.015805	T	0.42337	0.1198	N	0.01048	-1.04	0.34740	D	0.730653	B;B;B	0.12013	0.005;0.003;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.43972	-0.9358	10	0.20046	T	0.44	-15.3042	9.9951	0.41893	0.0:0.1503:0.6938:0.1559	.	149;149;149	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	P	149	ENSP00000392875:R149P;ENSP00000358891:R149P;ENSP00000358894:R149P	ENSP00000286899:R149P	R	+	2	0	CNNM2	104668673	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.049000	0.49869	1.013000	0.39391	-0.268000	0.10319	CGA		0.692	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649		36	114	0	0	0	0	36	114				
MUC5B	727897	broad.mit.edu	37	11	1271681	1271681	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:1271681C>G	ENST00000529681.1	+	31	13629	c.13571C>G	c.(13570-13572)gCc>gGc	p.A4524G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A4527G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4524	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTTTACAGCCATCCCCTCC	0.627																																						uc009ycr.1		NA																	0					0						c.(14989-14991)GCC>GGC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							67.0	102.0	90.0					11																	1271681		2090	4189	6279	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271681C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13571C>G	11.37:g.1271681C>G	ENSP00000436812:p.Ala4524Gly					MUC5B_uc001ltb.2_Missense_Mutation_p.A4527G	p.A4997G	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	15116	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4524			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14990C>G	CCDS44515.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	2.440|2.440	-0.328819|-0.328819	0.05314|0.05314	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844|ENST00000535652	T;T|.	0.17528|.	2.27;2.46|.	1.19|1.19	-1.29|-1.29	0.09288|0.09288	.|.	.|.	.|.	.|.	.|.	T|T	0.31389|0.31389	0.0795|0.0795	L|L	0.43923|0.43923	1.385|1.385	0.09310|0.09310	N|N	1|1	B;B|.	0.10296|.	0.003;0.003|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.31392|0.31392	-0.9945|-0.9945	9|6	0.87932|0.22109	D|T	0|0.4	.|.	4.7383|4.7383	0.12999|0.12999	0.0:0.5163:0.0:0.4837|0.0:0.5163:0.0:0.4837	.|.	4997;4527|.	A7Y9J9;E9PBJ0|.	.;.|.	G|R	4524;4527;4468;4374|302	ENSP00000436812:A4524G;ENSP00000415793:A4527G|.	ENSP00000343037:A4468G|ENSP00000439776:S302R	A|S	+|+	2|3	0|2	MUC5B|MUC5B	1228257|1228257	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.072000|0.072000	0.16883|0.16883	-1.855000|-1.855000	0.01663|0.01663	-0.345000|-0.345000	0.08325|0.08325	0.184000|0.184000	0.17185|0.17185	GCC|AGC		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		41	71	0	0	0	0	41	71				
EIF3M	10480	broad.mit.edu	37	11	32615458	32615458	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:32615458G>C	ENST00000531120.1	+	6	643	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	EIF3M_ENST00000524896.1_Missense_Mutation_p.E62Q	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					AAGTTACACAGAGGACAATGC	0.398																																						uc001mtu.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(580-582)GAG>CAG		eukaryotic translation initiation factor 3,							133.0	117.0	122.0					11																	32615458		2202	4299	6501	SO:0001583	missense	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32615458G>C	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.580G>C	11.37:g.32615458G>C	ENSP00000436049:p.Glu194Gln					EIF3M_uc010ref.1_Missense_Mutation_p.E62Q	p.E194Q	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN			6	623	+	Breast(20;0.109)		194						Missense_Mutation	SNP	ENST00000531120.1	37	c.580G>C	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.938317	0.92526	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000323213;ENST00000526267	T;T;T;T	0.47869	1.15;0.83;1.15;0.85	6.07	6.07	0.98685	.	0.043517	0.85682	D	0.000000	T	0.50650	0.1628	L	0.44542	1.39	0.80722	D	1	B;P	0.47106	0.248;0.89	B;P	0.47346	0.049;0.544	T	0.23833	-1.0177	10	0.24483	T	0.36	-16.0721	20.6439	0.99570	0.0:0.0:1.0:0.0	.	62;194	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	Q	194;62;131;35	ENSP00000436049:E194Q;ENSP00000436787:E62Q;ENSP00000319910:E131Q;ENSP00000432139:E35Q	ENSP00000319910:E131Q	E	+	1	0	EIF3M	32572034	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	9.440000	0.97547	2.890000	0.99128	0.650000	0.86243	GAG		0.398	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360		12	26	0	0	0	0	12	26				
EHF	26298	broad.mit.edu	37	11	34668200	34668200	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:34668200C>G	ENST00000533754.1	+	3	529	c.312C>G	c.(310-312)ctC>ctG	p.L104L	EHF_ENST00000530286.1_Silent_p.L104L|EHF_ENST00000531794.1_Silent_p.L126L|EHF_ENST00000450654.2_Silent_p.L104L|EHF_ENST00000527935.1_Silent_p.L104L|EHF_ENST00000531728.1_Silent_p.L104L|EHF_ENST00000257831.3_Silent_p.L104L					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGCAGCTCCTCTACAGCAACT	0.552																																						uc001mvr.1		NA																	0					0						c.(310-312)CTC>CTG		ets homologous factor							109.0	109.0	109.0					11																	34668200		2202	4298	6500	SO:0001819	synonymous_variant	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34668200C>G	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.312C>G	11.37:g.34668200C>G						EHF_uc009yke.1_Silent_p.L104L|EHF_uc009ykf.1_Silent_p.L107L	p.L104L	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		3	423	+		all_hematologic(20;0.117)	104			PNT.			Silent	SNP	ENST00000533754.1	37	c.312C>G	CCDS7894.1																																																																																				0.552	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		316	140	0	0	0	0	316	140				
FOLH1	2346	broad.mit.edu	37	11	49214404	49214404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:49214404C>A	ENST00000256999.2	-	4	714	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	FOLH1_ENST00000340334.7_Nonsense_Mutation_p.E137*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.E152*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.E137*|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	152					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GAAACATTTTCATATCCTGGA	0.323																																						uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(454-456)GAA>TAA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						92.0	98.0	96.0					11																	49214404		2201	4298	6499	SO:0001587	stop_gained	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49214404C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.454G>T	11.37:g.49214404C>A	ENSP00000256999:p.Glu152*					FOLH1_uc001ngz.2_Nonsense_Mutation_p.E152*|FOLH1_uc009yly.2_Nonsense_Mutation_p.E137*|FOLH1_uc009ylz.2_Nonsense_Mutation_p.E137*|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_Nonsense_Mutation_p.E137*	p.E152*	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			4	715	-			152			Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	ENST00000256999.2	37	c.454G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128002	0.94473	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	.	.	.	3.45	3.45	0.39498	.	0.000000	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.5174	0.56040	0.0:1.0:0.0:0.0	.	.	.	.	X	152;152;137;137;152	.	ENSP00000256999:E152X	E	-	1	0	FOLH1	49170980	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	4.991000	0.63883	1.781000	0.52344	0.400000	0.26472	GAA		0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		9	108	1	0	1.62e-10	2.39e-10	9	108				
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	rs369729738		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408																																						uc010ril.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(706-708)CGC>TGC		olfactory receptor, family 5, subfamily D,		C	CYS/ARG	0,4400		0,0,2200	134.0	119.0	124.0		706	-7.6	0.0	11		124	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR5D13	NM_001001967.1	180	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	236/315	55541619	1,12991	2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541619C>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.706C>T	11.37:g.55541619C>T	ENSP00000354800:p.Arg236Cys						p.R236C	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	706	+		all_epithelial(135;0.196)	236			Cytoplasmic (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.706C>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680976	0.29872	0.0	1.16E-4	ENSG00000198877	ENST00000361760	T	0.00337	8.05	3.82	-7.64	0.01286	GPCR, rhodopsin-like superfamily (1);	0.690085	0.10966	N	0.614455	T	0.00300	0.0009	M	0.91663	3.23	0.09310	N	1	B	0.24823	0.112	B	0.24269	0.052	T	0.42783	-0.9431	10	0.66056	D	0.02	-0.5898	2.0261	0.03519	0.5273:0.1688:0.1033:0.2006	.	236	Q8NGL4	OR5DD_HUMAN	C	236	ENSP00000354800:R236C	ENSP00000354800:R236C	R	+	1	0	OR5D13	55298195	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.486000	0.06513	-1.025000	0.03334	-0.527000	0.04329	CGC		0.408	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		8	67	0	0	0	0	8	67				
OR1S1	219959	broad.mit.edu	37	11	57982300	57982300	+	Silent	SNP	G	G	T	rs139788490	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:57982300G>T	ENST00000309433.6	+	1	84	c.84G>T	c.(82-84)ctG>ctT	p.L28L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCATTCTCCTGGGATTTTTCA	0.423													G|||	2	0.000399361	0.0	0.0	5008	,	,		21310	0.0		0.002	False		,,,				2504	0.0					uc010rkc.1		NA																	0				breast(1)	1						c.(82-84)CTG>CTT		olfactory receptor, family 1, subfamily S,		G		0,4402		0,0,2201	222.0	204.0	210.0		84	1.4	0.6	11	dbSNP_134	210	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR1S1	NM_001004458.1		0,1,6496	TT,TG,GG		0.0116,0.0,0.0077		28/326	57982300	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982300G>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.84G>T	11.37:g.57982300G>T							p.L28L	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	84	+		Breast(21;0.0589)	28			Extracellular (Potential).		Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.84G>T	CCDS31546.1																																																																																				0.423	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		10	108	1	0	1.77e-08	2.57e-08	10	108				
HNRNPUL2	221092	broad.mit.edu	37	11	62484600	62484600	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:62484600C>G	ENST00000301785.5	-	11	2034	c.1842G>C	c.(1840-1842)gaG>gaC	p.E614D	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.E614D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	614						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCCTCCTTCTCCAGCTCCC	0.498																																						uc001nuw.2		NA																	0					0						c.(1840-1842)GAG>GAC		heterogeneous nuclear ribonucleoprotein U-like							67.0	66.0	66.0					11																	62484600		1946	4135	6081	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62484600C>G		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1842G>C	11.37:g.62484600C>G	ENSP00000301785:p.Glu614Asp					HNRNPUL2_uc001nuu.1_RNA	p.E614D	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			11	2035	-			614					Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1842G>C	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985567	0.35036	.	.	ENSG00000214753	ENST00000301785	T	0.45276	0.9	5.16	1.72	0.24424	.	0.258310	0.38326	N	0.001736	T	0.20373	0.0490	N	0.14661	0.345	0.26621	N	0.972653	B	0.14438	0.01	B	0.12156	0.007	T	0.12091	-1.0561	10	0.28530	T	0.3	-17.8461	4.4112	0.11434	0.0:0.5029:0.1595:0.3377	.	614	Q1KMD3	HNRL2_HUMAN	D	614	ENSP00000301785:E614D	ENSP00000301785:E614D	E	-	3	2	HNRNPUL2	62241176	0.896000	0.30565	0.999000	0.59377	0.964000	0.63967	0.025000	0.13577	0.038000	0.15604	-0.448000	0.05591	GAG		0.498	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		3	41	0	0	0	0	3	41				
EHBP1L1	254102	broad.mit.edu	37	11	65349905	65349905	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:65349905G>C	ENST00000309295.4	+	9	2027	c.1762G>C	c.(1762-1764)Gaa>Caa	p.E588Q		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	588	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCAGGAGAAAGAAGTTGAGGG	0.562																																						uc001oeo.3		NA																	0				central_nervous_system(1)	1						c.(1762-1764)GAA>CAA		tangerin							31.0	35.0	33.0					11																	65349905		1913	4129	6042	SO:0001583	missense	254102							g.chr11:65349905G>C	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1762G>C	11.37:g.65349905G>C	ENSP00000312671:p.Glu588Gln					EHBP1L1_uc001oep.1_Intron	p.E588Q	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN			9	2027	+			588			Glu-rich.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1762G>C	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329772	0.41297	.	.	ENSG00000173442	ENST00000309295	T	0.68181	-0.31	4.35	3.42	0.39159	.	0.882239	0.09405	N	0.806634	T	0.58438	0.2122	L	0.29908	0.895	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.50955	-0.8766	10	0.44086	T	0.13	.	10.3685	0.44039	0.0987:0.0:0.9013:0.0	.	588	Q8N3D4	EH1L1_HUMAN	Q	588	ENSP00000312671:E588Q	ENSP00000312671:E588Q	E	+	1	0	EHBP1L1	65106481	0.293000	0.24371	0.003000	0.11579	0.004000	0.04260	0.356000	0.20181	1.020000	0.39573	0.655000	0.94253	GAA		0.562	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		8	43	0	0	0	0	8	43				
CTSF	8722	broad.mit.edu	37	11	66332076	66332076	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:66332076C>A	ENST00000310325.5	-	11	1383	c.1274G>T	c.(1273-1275)aGc>aTc	p.S425I	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	425					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGCCAAGGGCTGCAGAGGGG	0.627																																						uc001oip.2		NA																	0					0						c.(1273-1275)AGC>ATC		cathepsin F precursor							24.0	26.0	25.0					11																	66332076		2193	4289	6482	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66332076C>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1274G>T	11.37:g.66332076C>A	ENSP00000310832:p.Ser425Ile						p.S425I	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			11	1364	-			425					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.1274G>T	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.945740|3.945740	0.73672|0.73672	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325	.|T	.|0.25912	.|1.77	4.84|4.84	4.84|4.84	0.62591|0.62591	.|Peptidase C1A, papain C-terminal (2);	.|0.048988	.|0.85682	.|D	.|0.000000	T|T	0.50188|0.50188	0.1601|0.1601	M|M	0.83012|0.83012	2.62|2.62	0.41808|0.41808	D|D	0.989959|0.989959	.|D	.|0.89917	.|1.0	.|D	.|0.75020	.|0.985	T|T	0.56025|0.56025	-0.8047|-0.8047	5|10	.|0.87932	.|D	.|0	.|.	9.152|9.152	0.36969|0.36969	0.0:0.9009:0.0:0.0991|0.0:0.9009:0.0:0.0991	.|.	.|425	.|Q9UBX1	.|CATF_HUMAN	H|I	272|425	.|ENSP00000310832:S425I	.|ENSP00000310832:S425I	Q|S	-|-	3|2	2|0	CTSF|CTSF	66088652|66088652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.093000|2.093000	0.41710|0.41710	2.247000|2.247000	0.74100|0.74100	0.462000|0.462000	0.41574|0.41574	CAG|AGC		0.627	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		9	3	1	0	0.000673444	0.00090456	9	3				
UCP3	7352	broad.mit.edu	37	11	73717291	73717291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:73717291C>T	ENST00000314032.4	-	3	812	c.260G>A	c.(259-261)cGc>cAc	p.R87H	UCP3_ENST00000426995.2_Missense_Mutation_p.R87H|UCP3_ENST00000348534.4_Missense_Mutation_p.R87H	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	87					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GCTCATCTGGCGCTGCAGGCC	0.647																																						uc001our.2		NA																	0				pancreas(1)	1						c.(259-261)CGC>CAC		uncoupling protein 3 isoform UCP3L							35.0	35.0	35.0					11																	73717291		2200	4293	6493	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73717291C>T	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.260G>A	11.37:g.73717291C>T	ENSP00000323740:p.Arg87His					UCP3_uc001ous.2_Missense_Mutation_p.R87H	p.R87H	NM_003356	NP_003347	P55916	UCP3_HUMAN			3	615	-	Breast(11;2.08e-05)		87			Solcar 1.|Helical; Name=2; (Potential).		O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.260G>A	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	C	36	5.853404	0.97030	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995;ENST00000544614	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.52	5.52	0.82312	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94072	0.8100	H	0.98155	4.16	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.95999	0.8992	10	0.87932	D	0	-2.7016	19.0311	0.92957	0.0:1.0:0.0:0.0	.	87	P55916	UCP3_HUMAN	H	87	ENSP00000323740:R87H;ENSP00000343615:R87H;ENSP00000392143:R87H;ENSP00000445279:R87H	ENSP00000323740:R87H	R	-	2	0	UCP3	73394939	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.769000	0.85360	2.609000	0.88269	0.561000	0.74099	CGC		0.647	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		8	33	0	0	0	0	8	33				
SIK3	23387	broad.mit.edu	37	11	116728595	116728595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:116728595C>T	ENST00000292055.4	-	20	3303	c.3268G>A	c.(3268-3270)Gaa>Aaa	p.E1090K	SIK3_ENST00000375288.1_Missense_Mutation_p.E425K|SIK3_ENST00000375300.1_Missense_Mutation_p.E1148K|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Missense_Mutation_p.E1030K|SIK3_ENST00000434315.2_Missense_Mutation_p.E929K|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.E1088K	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1090					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCCCCAATTCTTGGGCATGA	0.507																																						uc001ppy.2		NA																	0				ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(3268-3270)GAA>AAA		serine/threonine-protein kinase QSK							105.0	94.0	98.0					11																	116728595		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116728595C>T	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3268G>A	11.37:g.116728595C>T	ENSP00000292055:p.Glu1090Lys					SIK3_uc001ppz.2_Missense_Mutation_p.E929K|SIK3_uc001pqa.2_Missense_Mutation_p.E1030K|SIK3_uc001ppw.2_Missense_Mutation_p.E447K|SIK3_uc001ppx.2_Missense_Mutation_p.E468K|SIK3_uc001pqb.2_Missense_Mutation_p.E393K	p.E1090K	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			20	3304	-			1090					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.3268G>A	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.82|12.82	2.053544|2.053544	0.36277|0.36277	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	T;T;T;T;T|.	0.73152|.	-0.67;-0.7;1.3;-0.72;-0.32|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.165341|.	0.27315|.	U|.	0.019929|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.29908|0.29908	0.895|0.895	0.53005|0.53005	D|D	0.999961|0.999961	P;P;B;P;B|.	0.50943|.	0.94;0.701;0.229;0.9;0.449|.	P;B;B;B;B|.	0.50440|.	0.641;0.242;0.11;0.438;0.185|.	T|T	0.52771|0.52771	-0.8531|-0.8531	10|5	0.87932|.	D|.	0|.	.|.	19.4865|19.4865	0.95030|0.95030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1090;1030;929;1090;425|.	Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2|.	.;.;.;SIK3_HUMAN;.|.	K|K	1148;1090;425;1030;929|1189;1052	ENSP00000364449:E1148K;ENSP00000292055:E1090K;ENSP00000364437:E425K;ENSP00000438108:E1030K;ENSP00000415873:E929K|.	ENSP00000292055:E1090K|.	E|R	-|-	1|2	0|0	SIK3|SIK3	116233805|116233805	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.005000|0.005000	0.04900|0.04900	5.274000|5.274000	0.65569|0.65569	2.585000|2.585000	0.87301|0.87301	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.507	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		12	57	0	0	0	0	12	57				
ADAMTS15	170689	broad.mit.edu	37	11	130343462	130343462	+	Missense_Mutation	SNP	C	C	T	rs560827134		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:130343462C>T	ENST00000299164.2	+	8	2599	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	867	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGTGGACTGCCGGGGCTCCGC	0.751																																						uc010scd.1		NA																	0				large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5						c.(2599-2601)CGG>TGG		a disintegrin-like and metalloprotease							12.0	16.0	14.0					11																	130343462		2161	4219	6380	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130343462C>T	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2599C>T	11.37:g.130343462C>T	ENSP00000299164:p.Arg867Trp						p.R867W	NM_139055	NP_620686	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	8	2599	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	867			TSP type-1 2.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.2599C>T	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974920	0.53720	.	.	ENSG00000166106	ENST00000299164	T	0.53857	0.6	5.78	4.88	0.63580	.	.	.	.	.	T	0.61776	0.2374	L	0.60904	1.88	0.38269	D	0.942093	D	0.63046	0.992	P	0.53549	0.729	T	0.65957	-0.6042	9	0.38643	T	0.18	.	16.4422	0.83905	0.1326:0.8674:0.0:0.0	.	867	Q8TE58	ATS15_HUMAN	W	867	ENSP00000299164:R867W	ENSP00000299164:R867W	R	+	1	2	ADAMTS15	129848672	0.121000	0.22262	0.250000	0.24296	0.279000	0.26890	3.659000	0.54489	1.473000	0.48159	-0.217000	0.12591	CGG		0.751	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		5	24	0	0	0	0	5	24				
ATN1	1822	broad.mit.edu	37	12	7047686	7047686	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:7047686C>G	ENST00000356654.4	+	7	2797	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	ATN1_ENST00000396684.2_Missense_Mutation_p.L854V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	854					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ATGCCCATCTCTGGGCCCAGT	0.607											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qrw.1		NA																	0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(2560-2562)CTG>GTG		atrophin-1							40.0	41.0	41.0					12																	7047686		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047686C>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2560C>G	12.37:g.7047686C>G	ENSP00000349076:p.Leu854Val		OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	ATN1_uc001qrx.1_Missense_Mutation_p.L854V	p.L854V	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			7	2797	+			854					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2560C>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478114	0.26511	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.45276	0.9;0.9;0.9	4.96	4.96	0.65561	.	0.331492	0.16875	U	0.195941	T	0.39145	0.1067	N	0.22421	0.69	0.31358	N	0.68175	B	0.28400	0.21	B	0.38921	0.285	T	0.36480	-0.9746	10	0.26408	T	0.33	.	18.8408	0.92183	0.0:1.0:0.0:0.0	.	854	P54259	ATN1_HUMAN	V	854;854;854;439	ENSP00000349076:L854V;ENSP00000379915:L854V;ENSP00000441744:L854V	ENSP00000229279:L439V	L	+	1	2	ATN1	6917947	0.998000	0.40836	0.987000	0.45799	0.134000	0.20937	1.428000	0.34892	2.767000	0.95098	0.650000	0.86243	CTG		0.607	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		10	42	0	0	0	0	10	42				
APOBEC1	339	broad.mit.edu	37	12	7818459	7818459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:7818459C>T	ENST00000229304.4	-	1	30	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	4					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTACCTTTCTCAGAAGTCATG	0.488																																					Pancreas(135;929 1826 4531 10527 41012)	uc001qtb.2		NA																	0					0						c.(10-12)GAG>AAG		apolipoprotein B mRNA editing enzyme							274.0	253.0	260.0					12																	7818459		2203	4300	6503	SO:0001583	missense	339				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	g.chr12:7818459C>T	U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.10G>A	12.37:g.7818459C>T	ENSP00000229304:p.Glu4Lys					APOBEC1_uc001qtc.2_5'UTR|APOBEC1_uc010sgf.1_Missense_Mutation_p.E4K	p.E4K	NM_001644	NP_001635	P41238	ABEC1_HUMAN			1	44	-			4					Q9UE64|Q9UM71	Missense_Mutation	SNP	ENST00000229304.4	37	c.10G>A	CCDS8579.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256466	0.59321	.	.	ENSG00000111701	ENST00000229304	T	0.62364	0.03	3.14	3.14	0.36123	.	3.362250	0.01298	N	0.010215	T	0.51702	0.1690	L	0.27053	0.805	0.30175	N	0.800892	B	0.30482	0.281	B	0.24974	0.057	T	0.47471	-0.9115	10	0.39692	T	0.17	1.4383	10.0701	0.42328	0.0:1.0:0.0:0.0	.	4	P41238	ABEC1_HUMAN	K	4	ENSP00000229304:E4K	ENSP00000229304:E4K	E	-	1	0	APOBEC1	7709726	0.995000	0.38212	0.998000	0.56505	0.822000	0.46500	1.985000	0.40668	2.071000	0.62044	0.462000	0.41574	GAG		0.488	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1	NM_001644		24	126	0	0	0	0	24	126				
SLCO1B1	10599	broad.mit.edu	37	12	21377664	21377664	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:21377664C>G	ENST00000256958.2	+	14	1852	c.1756C>G	c.(1756-1758)Cta>Gta	p.L586V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	586					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AGGAGGAATTCTAGCTCCAAT	0.358																																						uc001req.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1756-1758)CTA>GTA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						145.0	138.0	140.0					12																	21377664		2203	4300	6503	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21377664C>G		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1756C>G	12.37:g.21377664C>G	ENSP00000256958:p.Leu586Val						p.L586V	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			14	1860	+			586			Helical; Name=11; (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1756C>G	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551903	0.27739	.	.	ENSG00000134538	ENST00000256958	T	0.40225	1.04	3.66	2.65	0.31530	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.177091	0.49305	D	0.000155	T	0.50497	0.1619	M	0.73962	2.25	0.24675	N	0.993398	P	0.49783	0.928	P	0.53760	0.734	T	0.35798	-0.9774	10	0.42905	T	0.14	.	7.8433	0.29410	0.0:0.8574:0.0:0.1426	.	586	Q9Y6L6	SO1B1_HUMAN	V	586	ENSP00000256958:L586V	ENSP00000256958:L586V	L	+	1	2	SLCO1B1	21268931	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	2.883000	0.48554	1.866000	0.54105	0.467000	0.42956	CTA		0.358	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		21	67	0	0	0	0	21	67				
SOX5	6660	broad.mit.edu	37	12	23998941	23998941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:23998941C>G	ENST00000451604.2	-	3	558	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	SOX5_ENST00000545921.1_Missense_Mutation_p.E143Q|SOX5_ENST00000381381.2_Missense_Mutation_p.E140Q|SOX5_ENST00000309359.1_Missense_Mutation_p.E140Q|SOX5_ENST00000541536.1_Missense_Mutation_p.E140Q|SOX5_ENST00000441133.2_Missense_Mutation_p.E118Q|SOX5_ENST00000546136.1_Missense_Mutation_p.E140Q|SOX5_ENST00000541847.1_Missense_Mutation_p.E143Q|SOX5_ENST00000537393.1_Missense_Mutation_p.E118Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	153					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTGATGAGCTCTTCCATTTTC	0.438																																						uc001rfw.2		NA																	0				ovary(5)|lung(1)	6						c.(457-459)GAG>CAG		SRY (sex determining region Y)-box 5 isoform a							111.0	102.0	105.0					12																	23998941		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23998941C>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.457G>C	12.37:g.23998941C>G	ENSP00000398273:p.Glu153Gln					SOX5_uc001rfx.2_Missense_Mutation_p.E140Q|SOX5_uc001rfy.2_Missense_Mutation_p.E140Q|SOX5_uc010siv.1_Missense_Mutation_p.E140Q|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.E105Q|SOX5_uc001rga.2_Missense_Mutation_p.E118Q	p.E153Q	NM_006940	NP_008871	P35711	SOX5_HUMAN			3	559	-			153					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.457G>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	32	5.154006	0.94645	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.98060	-4.68;-4.68;-4.66;-4.69;-4.65;-4.66;-4.68	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.98717	0.9569	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.989;1.0	D;D;D;D	0.91635	0.997;0.999;0.969;0.999	D	0.99320	1.0906	10	0.59425	D	0.04	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	118;118;140;153	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	Q	140;140;140;153;105;118;140;143;143;118;140	ENSP00000437487:E140Q;ENSP00000308927:E140Q;ENSP00000370788:E140Q;ENSP00000398273:E153Q;ENSP00000439832:E118Q;ENSP00000441973:E140Q;ENSP00000443520:E143Q	ENSP00000308927:E140Q	E	-	1	0	SOX5	23890208	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.474000	0.81024	2.744000	0.94065	0.650000	0.86243	GAG		0.438	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		17	85	0	0	0	0	17	85				
STAT6	6778	broad.mit.edu	37	12	57500498	57500498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:57500498C>G	ENST00000300134.3	-	5	781	c.456G>C	c.(454-456)caG>caC	p.Q152H	STAT6_ENST00000538913.2_Missense_Mutation_p.Q42H|STAT6_ENST00000537215.2_Missense_Mutation_p.Q42H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q152H|STAT6_ENST00000454075.3_Missense_Mutation_p.Q152H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q152H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	152					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAGCCCCCTTCTGCAGGGCTT	0.567																																						uc009zpe.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(454-456)CAG>CAC		signal transducer and activator of transcription							74.0	84.0	81.0					12																	57500498		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57500498C>G	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.456G>C	12.37:g.57500498C>G	ENSP00000300134:p.Gln152His					STAT6_uc009zpf.2_Missense_Mutation_p.Q152H|STAT6_uc001sna.2_Missense_Mutation_p.Q152H|STAT6_uc010srb.1_Missense_Mutation_p.Q42H|STAT6_uc010src.1_Missense_Mutation_p.Q42H|STAT6_uc010srd.1_Missense_Mutation_p.Q42H|STAT6_uc009zpg.2_Missense_Mutation_p.Q201H	p.Q152H	NM_003153	NP_003144	P42226	STAT6_HUMAN			5	707	-			152					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.456G>C	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	C	5.876	0.345782	0.11126	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	4.96	3.03	0.35002	STAT transcription factor, all-alpha (1);STAT transcription factor, coiled coil (1);	0.526061	0.18784	N	0.131249	T	0.42314	0.1197	N	0.22421	0.69	0.23010	N	0.998431	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.37384	-0.9708	10	0.62326	D	0.03	-0.1548	10.5549	0.45112	0.315:0.685:0.0:0.0	.	152;152	A8K4S9;P42226	.;STAT6_HUMAN	H	152;42;42;152;152;42;152;42;152;152;134;152	ENSP00000300134:Q152H;ENSP00000445409:Q42H;ENSP00000438451:Q152H;ENSP00000451742:Q152H;ENSP00000444530:Q42H;ENSP00000401486:Q152H	ENSP00000300134:Q152H	Q	-	3	2	STAT6	55786765	0.986000	0.35501	0.085000	0.20634	0.048000	0.14542	2.008000	0.40893	0.543000	0.28864	0.655000	0.94253	CAG		0.567	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		55	122	0	0	0	0	55	122				
GLI1	2735	broad.mit.edu	37	12	57864291	57864291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:57864291C>T	ENST00000228682.2	+	12	1859	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	GLI1_ENST00000543426.1_Missense_Mutation_p.R462W|GLI1_ENST00000546141.1_Missense_Mutation_p.R549W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	590					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTACCTGCTTCGGGCAAGATA	0.632																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1768-1770)CGG>TGG		GLI family zinc finger 1 isoform 1							60.0	51.0	54.0					12																	57864291		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864291C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1768C>T	12.37:g.57864291C>T	ENSP00000228682:p.Arg590Trp					GLI1_uc009zpq.2_Missense_Mutation_p.R462W	p.R590W	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1846	+			590					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1768C>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237011	0.58886	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.15487	2.51;2.42;2.49;2.49	3.86	3.86	0.44501	.	0.000000	0.42172	D	0.000741	T	0.25457	0.0619	L	0.46157	1.445	0.42349	D	0.992364	D	0.76494	0.999	P	0.56434	0.798	T	0.00923	-1.1513	10	0.87932	D	0	.	9.2479	0.37539	0.328:0.672:0.0:0.0	.	590	P08151	GLI1_HUMAN	W	462;590;549;549	ENSP00000437607:R462W;ENSP00000228682:R590W;ENSP00000441006:R549W;ENSP00000434408:R549W	ENSP00000228682:R590W	R	+	1	2	GLI1	56150558	0.999000	0.42202	1.000000	0.80357	0.898000	0.52572	4.057000	0.57455	2.436000	0.82500	0.491000	0.48974	CGG		0.632	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		13	63	0	0	0	0	13	63				
CYP27B1	1594	broad.mit.edu	37	12	58158990	58158990	+	Missense_Mutation	SNP	G	G	C	rs549824639		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:58158990G>C	ENST00000228606.4	-	4	803	c.594C>G	c.(592-594)atC>atG	p.I198M	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	198					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GAACCGCGGCGATGCCTTGTC	0.692											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		15583	0.0		0.0	False		,,,				2504	0.001					uc001spz.1		NA																	0				central_nervous_system(3)	3						c.(592-594)ATC>ATG		cytochrome P450, family 27, subfamily B,	Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)						23.0	22.0	22.0					12																	58158990		2200	4296	6496	SO:0001583	missense	1594				bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	g.chr12:58158990G>C	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.594C>G	12.37:g.58158990G>C	ENSP00000228606:p.Ile198Met		OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028	CYP27B1_uc001sqa.1_Translation_Start_Site|CYP27B1_uc001sqb.1_Missense_Mutation_p.R79G|CYP27B1_uc001sqc.1_Missense_Mutation_p.R79G	p.I198M	NM_000785	NP_000776	O15528	CP27B_HUMAN	GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	746	-	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		198					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.594C>G	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871060	0.51695	.	.	ENSG00000111012	ENST00000228606	T	0.74947	-0.89	5.06	-5.43	0.02632	.	0.220653	0.44688	D	0.000436	T	0.76241	0.3960	M	0.69358	2.11	0.40672	D	0.982226	D	0.67145	0.996	D	0.71870	0.975	T	0.74278	-0.3717	10	0.59425	D	0.04	.	4.5052	0.11883	0.2974:0.0726:0.4746:0.1554	.	198	O15528	CP27B_HUMAN	M	198	ENSP00000228606:I198M	ENSP00000228606:I198M	I	-	3	3	CYP27B1	56445257	0.964000	0.33143	0.926000	0.36857	0.353000	0.29299	0.028000	0.13644	-0.489000	0.06716	-0.397000	0.06425	ATC		0.692	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		6	32	0	0	0	0	6	32				
DUSP6	1848	broad.mit.edu	37	12	89745576	89745576	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:89745576C>T	ENST00000279488.7	-	1	1472	c.241G>A	c.(241-243)Gag>Aag	p.E81K	DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000308385.6_Missense_Mutation_p.E81K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	81	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TCCCGGTCCTCGCCGCGCGTG	0.677																																					Colon(132;3456 5224)	uc001tay.2		NA																	0					0						c.(241-243)GAG>AAG		dual specificity phosphatase 6 isoform a							14.0	13.0	13.0					12																	89745576		2178	4275	6453	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89745576C>T	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.241G>A	12.37:g.89745576C>T	ENSP00000279488:p.Glu81Lys					DUSP6_uc001taz.2_Missense_Mutation_p.E81K	p.E81K	NM_001946	NP_001937	Q16828	DUS6_HUMAN			1	721	-			81			Rhodanese.		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.241G>A	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564189	0.86335	.	.	ENSG00000139318	ENST00000279488;ENST00000308385;ENST00000548755	T;T;T	0.49432	0.78;0.78;0.78	5.24	5.24	0.73138	Rhodanese-like (5);	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	M	0.85777	2.775	0.80722	D	1	D;P	0.55605	0.972;0.868	P;P	0.53549	0.729;0.575	T	0.64136	-0.6478	10	0.21540	T	0.41	.	19.0263	0.92934	0.0:1.0:0.0:0.0	.	81;81	Q16828-2;Q16828	.;DUS6_HUMAN	K	81	ENSP00000279488:E81K;ENSP00000307835:E81K;ENSP00000446858:E81K	ENSP00000279488:E81K	E	-	1	0	DUSP6	88269707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.803000	0.55560	2.723000	0.93209	0.655000	0.94253	GAG		0.677	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		4	28	0	0	0	0	4	28				
SLC8B1	80024	broad.mit.edu	37	12	113758155	113758155	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:113758155G>A	ENST00000552014.1	-	8	1190	c.675C>T	c.(673-675)gtC>gtT	p.V225V	SLC8B1_ENST00000202831.3_Silent_p.V225V|SLC8B1_ENST00000553238.1_Intron|SLC8B1_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	225					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										ATGCCAGGGTGACCCTGCCAC	0.602																																						uc001tvc.2		NA																	0				central_nervous_system(1)	1						c.(673-675)GTC>GTT		solute carrier family 24 member 6 precursor							125.0	125.0	125.0					12																	113758155		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758155G>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.675C>T	12.37:g.113758155G>A						SLC24A6_uc001tuz.2_5'Flank|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Intron	p.V225V	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN			7	885	-			225			Extracellular (Potential).		A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.675C>T	CCDS31909.1																																																																																				0.602	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		44	159	0	0	0	0	44	159				
COQ5	84274	broad.mit.edu	37	12	120941685	120941685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:120941685C>T	ENST00000288532.6	-	7	926	c.886G>A	c.(886-888)Gag>Aag	p.E296K	Y_RNA_ENST00000410669.1_RNA|COQ5_ENST00000445328.2_Missense_Mutation_p.E222K	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	296					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTGAACTCTTCCTGAAAC	0.413																																						uc001tyn.2		NA																	0				ovary(1)	1						c.(886-888)GAG>AAG		coenzyme Q5 homolog, methyltransferase							113.0	105.0	108.0					12																	120941685		2203	4300	6503	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120941685C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.886G>A	12.37:g.120941685C>T	ENSP00000288532:p.Glu296Lys					COQ5_uc001tyo.2_Missense_Mutation_p.E215K|COQ5_uc010szj.1_Missense_Mutation_p.E222K	p.E296K	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN			7	906	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		296					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.886G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890218	0.52014	.	.	ENSG00000110871	ENST00000288532;ENST00000445328	T;T	0.72615	-0.67;-0.67	5.76	5.76	0.90799	.	0.188233	0.56097	D	0.000029	T	0.69824	0.3154	L	0.53249	1.67	0.58432	D	0.999998	B;B	0.32968	0.392;0.177	B;B	0.37091	0.241;0.213	T	0.64317	-0.6436	10	0.16420	T	0.52	.	20.0433	0.97601	0.0:1.0:0.0:0.0	.	222;296	B4DP72;Q5HYK3	.;COQ5_HUMAN	K	296;222	ENSP00000288532:E296K;ENSP00000401798:E222K	ENSP00000288532:E296K	E	-	1	0	COQ5	119426068	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.024000	0.70857	2.737000	0.93849	0.644000	0.83932	GAG		0.413	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		20	70	0	0	0	0	20	70				
TMEM132D	121256	broad.mit.edu	37	12	129694177	129694177	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:129694177G>A	ENST00000422113.2	-	5	1657	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	444					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTCTTCCCCGTGAGGATGGC	0.592																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1330-1332)ACG>ATG		transmembrane protein 132D precursor							93.0	74.0	80.0					12																	129694177		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129694177G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1331C>T	12.37:g.129694177G>A	ENSP00000408581:p.Thr444Met						p.T444M	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	5	1659	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	444			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1331C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499800	0.85176	.	.	ENSG00000151952	ENST00000422113	T	0.17691	2.26	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000002	T	0.47820	0.1466	M	0.88640	2.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.54873	-0.8228	9	.	.	.	-23.1339	14.6727	0.68956	0.0:0.0:0.8542:0.1458	.	444	Q14C87	T132D_HUMAN	M	444	ENSP00000408581:T444M	.	T	-	2	0	TMEM132D	128260130	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.321000	0.79088	2.446000	0.82766	0.655000	0.94253	ACG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		11	39	0	0	0	0	11	39				
TUBA3C	7278	broad.mit.edu	37	13	19753481	19753481	+	Splice_Site	SNP	C	C	T	rs370655190		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:19753481C>T	ENST00000400113.3	-	2	330	c.226G>A	c.(226-228)Gat>Aat	p.D76N	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	76					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D76N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGCACCTACCGACCACAGTG	0.587																																						uc009zzj.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(3)|skin(2)	5						c.(226-228)GAT>AAT		tubulin, alpha 3c		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	96.0	84.0	88.0		226	1.4	0.9	13		88	0,8600		0,0,4300	no	missense-near-splice	TUBA3C	NM_006001.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	76/451	19753481	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753481C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.226+1G>A	13.37:g.19753481C>T							p.D76N	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	275	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	76					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.226G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	8.382	0.837752	0.16891	2.27E-4	0.0	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69306	-0.39	1.37	1.37	0.22104	.	0.000000	0.48286	U	0.000183	T	0.65481	0.2695	.	.	.	0.45161	D	0.998177	.	.	.	.	.	.	T	0.61821	-0.6984	6	.	.	.	.	8.7074	0.34363	0.0:1.0:0.0:0.0	.	.	.	.	N	76	ENSP00000382982:D76N	.	D	-	1	0	TUBA3C	18651481	1.000000	0.71417	0.903000	0.35520	0.353000	0.29299	6.436000	0.73417	1.070000	0.40811	0.194000	0.17425	GAT		0.587	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	Missense_Mutation	7	67	0	0	0	0	7	67				
VWA8	23078	broad.mit.edu	37	13	42335296	42335296	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:42335296G>C	ENST00000379310.3	-	21	2462	c.2394C>G	c.(2392-2394)ctC>ctG	p.L798L	VWA8_ENST00000281496.6_Silent_p.L798L	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	798						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										GGGGTCTGTTGAGCAGGTGAA	0.363																																						uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(2392-2394)CTC>CTG		hypothetical protein LOC23078 isoform a							195.0	192.0	193.0					13																	42335296		2203	4300	6503	SO:0001819	synonymous_variant	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42335296G>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2394C>G	13.37:g.42335296G>C						KIAA0564_uc001uyk.2_Silent_p.L798L	p.L798L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	21	2464	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	798					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.2394C>G	CCDS41881.1																																																																																				0.363	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		22	80	0	0	0	0	22	80				
CDADC1	81602	broad.mit.edu	37	13	49852553	49852553	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:49852553C>A	ENST00000251108.6	+	7	1231	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	CDADC1_ENST00000444959.1_Missense_Mutation_p.S175Y	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	373							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.S373Y(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CCTGTTGGATCTGAGTATGCT	0.413																																						uc001vcu.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	upper_aerodigestive_tract(1)	1						c.(1117-1119)TCT>TAT		cytidine and dCMP deaminase domain containing 1							387.0	328.0	348.0					13																	49852553		2203	4300	6503	SO:0001583	missense	81602						hydrolase activity|zinc ion binding	g.chr13:49852553C>A	AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.1118C>A	13.37:g.49852553C>A	ENSP00000251108:p.Ser373Tyr					CDADC1_uc010tgk.1_Missense_Mutation_p.S175Y|CDADC1_uc001vcv.2_RNA	p.S373Y	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)	7	1194	+		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	373					Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	ENST00000251108.6	37	c.1118C>A	CCDS9415.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779332	0.90195	.	.	ENSG00000102543	ENST00000251108;ENST00000444959	T;T	0.42513	0.97;0.97	5.51	5.51	0.81932	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60611	-0.7229	10	0.62326	D	0.03	-9.602	18.469	0.90766	0.0:1.0:0.0:0.0	.	373	Q9BWV3	CDAC1_HUMAN	Y	373;175	ENSP00000251108:S373Y;ENSP00000407226:S175Y	ENSP00000251108:S373Y	S	+	2	0	CDADC1	48750554	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	7.101000	0.76997	2.581000	0.87130	0.650000	0.86243	TCT		0.413	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044902.2	NM_030911		34	115	1	0	4.32e-10	6.34e-10	34	115				
RNASE4	6038	broad.mit.edu	37	14	21167749	21167749	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:21167749C>T	ENST00000555835.1	+	2	895	c.219C>T	c.(217-219)ttC>ttT	p.F73F	RNASE4_ENST00000304704.4_Silent_p.F73F|RNASE4_ENST00000555597.1_Silent_p.F73F|RNASE4_ENST00000397995.2_Silent_p.F73F|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	73					cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TCAACACCTTCATCCATGAAG	0.478																																					Esophageal Squamous(59;1059 1362 26290 51151)	uc001vxy.3		NA																	0				central_nervous_system(1)	1						c.(217-219)TTC>TTT		ribonuclease, RNase A family, 4 precursor							161.0	132.0	142.0					14																	21167749		2203	4300	6503	SO:0001819	synonymous_variant	6038				mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21167749C>T	U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"""Ribonucleases, RNase A"""	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.219C>T	14.37:g.21167749C>T						RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Silent_p.F73F	p.F73F	NM_002937	NP_002928	P34096	RNAS4_HUMAN	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)	2	782	+	all_cancers(95;0.00304)		73						Silent	SNP	ENST00000555835.1	37	c.219C>T	CCDS9555.1																																																																																				0.478	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073729.3			26	109	0	0	0	0	26	109				
SOS2	6655	broad.mit.edu	37	14	50655405	50655405	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:50655405A>C	ENST00000216373.5	-	5	798	c.524T>G	c.(523-525)aTg>aGg	p.M175R	SOS2_ENST00000543680.1_Missense_Mutation_p.M175R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	175					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTGATCAAACATGTCCATCAA	0.313																																						uc001wxs.3		NA																	0				ovary(2)	2						c.(523-525)ATG>AGG		son of sevenless homolog 2							69.0	63.0	65.0					14																	50655405		2203	4300	6503	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50655405A>C	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.524T>G	14.37:g.50655405A>C	ENSP00000216373:p.Met175Arg					SOS2_uc010tql.1_Missense_Mutation_p.M175R	p.M175R	NM_006939	NP_008870	Q07890	SOS2_HUMAN			5	622	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		175					B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.524T>G	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.216881	0.79352	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.85339	-1.97;-1.97	5.53	5.53	0.82687	Histone-fold (2);	0.227081	0.56097	D	0.000036	D	0.88720	0.6513	L	0.36672	1.1	0.80722	D	1	D;P	0.89917	1.0;0.841	D;B	0.73380	0.98;0.375	D	0.90095	0.4180	10	0.87932	D	0	.	15.6484	0.77073	1.0:0.0:0.0:0.0	.	175;175	B7ZKT6;Q07890	.;SOS2_HUMAN	R	175	ENSP00000216373:M175R;ENSP00000445328:M175R	ENSP00000216373:M175R	M	-	2	0	SOS2	49725155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.296000	0.96104	2.091000	0.63221	0.533000	0.62120	ATG		0.313	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			8	29	0	0	0	0	8	29				
NIN	51199	broad.mit.edu	37	14	51233551	51233551	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:51233551C>G	ENST00000382041.3	-	13	1682	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	NIN_ENST00000453196.1_Missense_Mutation_p.E498Q|NIN_ENST00000530997.2_Missense_Mutation_p.E498Q|NIN_ENST00000382043.4_Missense_Mutation_p.E498Q|NIN_ENST00000245441.5_Missense_Mutation_p.E498Q|NIN_ENST00000389868.3_Missense_Mutation_p.E498Q|NIN_ENST00000324330.9_Missense_Mutation_p.E498Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	498					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTCAGATTCTCATATTCTGCC	0.358			T	PDGFRB	MPD																																	uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(1492-1494)GAG>CAG		ninein isoform 5							174.0	167.0	170.0					14																	51233551		2203	4298	6501	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51233551C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1492G>C	14.37:g.51233551C>G	ENSP00000371472:p.Glu498Gln					NIN_uc001wyi.2_Missense_Mutation_p.E498Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E498Q|NIN_uc010tqp.1_Missense_Mutation_p.E504Q|NIN_uc001wyo.2_Missense_Mutation_p.E498Q	p.E498Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			13	1683	-	all_epithelial(31;0.00244)|Breast(41;0.127)		498			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1492G>C	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032112	0.75504	.	.	ENSG00000100503	ENST00000245441;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.84	5.84	0.93424	.	0.048515	0.85682	D	0.000000	T	0.47619	0.1455	M	0.67953	2.075	0.58432	D	0.999997	D;D;D;P;D	0.89917	0.992;1.0;1.0;0.911;0.998	D;D;D;P;D	0.91635	0.955;0.999;0.997;0.609;0.994	T	0.23868	-1.0176	10	0.48119	T	0.1	-20.0475	19.1272	0.93390	0.0:1.0:0.0:0.0	.	504;498;498;498;498	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	Q	498;498;498;504;498;498;498	ENSP00000245441:E498Q;ENSP00000374518:E498Q;ENSP00000371474:E498Q;ENSP00000371472:E498Q;ENSP00000324210:E498Q;ENSP00000412391:E498Q	ENSP00000245441:E498Q	E	-	1	0	NIN	50303301	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.331000	0.59273	2.764000	0.94973	0.655000	0.94253	GAG		0.358	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		50	81	0	0	0	0	50	81				
SLC8A3	6547	broad.mit.edu	37	14	70518746	70518746	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:70518746G>T	ENST00000381269.2	-	5	2745	c.1992C>A	c.(1990-1992)ccC>ccA	p.P664P	SLC8A3_ENST00000356921.2_Silent_p.P658P|SLC8A3_ENST00000528359.1_Silent_p.P662P|SLC8A3_ENST00000533541.1_Silent_p.P21P|SLC8A3_ENST00000357887.3_Silent_p.P662P|SLC8A3_ENST00000534137.1_Silent_p.P661P|SLC8A3_ENST00000216568.7_Silent_p.P35P|SLC8A3_ENST00000394330.2_Silent_p.P21P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	664					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTCTAGTTTGGGGTGTTCAC	0.428																																						uc001xly.2		NA																	0				skin(3)|ovary(2)|breast(2)	7						c.(1990-1992)CCC>CCA		solute carrier family 8 (sodium/calcium							170.0	148.0	156.0					14																	70518746		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70518746G>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1992C>A	14.37:g.70518746G>T						SLC8A3_uc001xlu.2_Silent_p.P21P|SLC8A3_uc001xlv.2_Silent_p.P35P|SLC8A3_uc001xlw.2_Silent_p.P661P|SLC8A3_uc001xlx.2_Silent_p.P662P|SLC8A3_uc001xlz.2_Silent_p.P658P|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_Silent_p.P21P	p.P664P	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	5	2746	-			664			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.1992C>A	CCDS35498.1																																																																																				0.428	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			27	59	1	0	1.74e-05	2.42e-05	27	59				
HEATR4	399671	broad.mit.edu	37	14	73989500	73989500	+	Silent	SNP	G	G	A	rs150475805		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:73989500G>A	ENST00000553558.1	-	3	678	c.357C>T	c.(355-357)ttC>ttT	p.F119F	RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000334988.2_Silent_p.F119F|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_Silent_p.F72F	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	119										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCAGGAACTTGAAGCTAACAG	0.488																																						uc010tub.1		NA																	0				ovary(1)	1						c.(355-357)TTC>TTT		HEAT repeat containing 4		G	,	1,4405	2.1+/-5.4	0,1,2202	77.0	79.0	78.0		357,357	3.8	0.0	14	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HEATR4	NM_001220484.1,NM_203309.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	119/1027,119/1027	73989500	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	399671							g.chr14:73989500G>A	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.357C>T	14.37:g.73989500G>A						HEATR4_uc010tua.1_Silent_p.F72F	p.F119F	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	3	679	-								B7Z7V9|E9KL41	Silent	SNP	ENST00000553558.1	37	c.357C>T	CCDS9815.2																																																																																				0.488	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		16	78	0	0	0	0	16	78				
TJP1	7082	broad.mit.edu	37	15	30008860	30008860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:30008860G>A	ENST00000346128.6	-	23	4631	c.4157C>T	c.(4156-4158)cCa>cTa	p.P1386L	TJP1_ENST00000356107.6_Missense_Mutation_p.P1386L|TJP1_ENST00000545208.2_Missense_Mutation_p.P1306L|TJP1_ENST00000400011.2_Missense_Mutation_p.P1310L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1386					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGAATGCGCTGGCTTTGCAGG	0.408																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(4156-4158)CCA>CTA		tight junction protein 1 isoform a							68.0	72.0	71.0					15																	30008860		1847	4103	5950	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30008860G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4157C>T	15.37:g.30008860G>A	ENSP00000281537:p.Pro1386Leu					TJP1_uc010azl.2_Missense_Mutation_p.P1374L|TJP1_uc001zcq.2_Missense_Mutation_p.P1310L|TJP1_uc001zcs.2_Missense_Mutation_p.P1306L	p.P1386L	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	23	4632	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1386					B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.4157C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680892	0.47886	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.59083	0.29;0.29	6.17	4.27	0.50696	.	0.049380	0.85682	D	0.000000	T	0.54647	0.1871	M	0.68952	2.095	0.80722	D	1	B;P;B;B	0.38677	0.003;0.642;0.003;0.082	B;B;B;B	0.37480	0.003;0.251;0.003;0.039	T	0.54098	-0.8344	10	0.41790	T	0.15	.	11.5654	0.50802	0.0641:0.0:0.8104:0.1256	.	1379;1306;1386;1310	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	L	1386;1310;1386;1306;1306	ENSP00000281537:P1386L;ENSP00000382890:P1310L	ENSP00000281537:P1386L	P	-	2	0	TJP1	27796152	1.000000	0.71417	0.867000	0.34043	0.657000	0.38888	5.119000	0.64679	0.905000	0.36596	0.655000	0.94253	CCA		0.408	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		12	43	0	0	0	0	12	43				
TRPM1	4308	broad.mit.edu	37	15	31358388	31358388	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:31358388G>A	ENST00000256552.6	-	7	828	c.681C>T	c.(679-681)tcC>tcT	p.S227S	TRPM1_ENST00000542188.1_Silent_p.S244S|MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Silent_p.S205S	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGTGGGTGTGGGAGTTGTTGA	0.537																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(613-615)TCC>TCT		transient receptor potential cation channel,							189.0	191.0	190.0					15																	31358388		2114	4261	6375	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31358388G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.681C>T	15.37:g.31358388G>A						TRPM1_uc010azy.2_Silent_p.S118S|TRPM1_uc001zfl.2_RNA|uc010ubm.1_5'Flank|MIR211_hsa-mir-211|MI0000287_5'Flank	p.S205S	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	6	743	-		all_lung(180;1.92e-11)	205			Extracellular (Potential).			Silent	SNP	ENST00000256552.6	37	c.615C>T	CCDS58346.1																																																																																				0.537	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		16	94	0	0	0	0	16	94				
AQR	9716	broad.mit.edu	37	15	35189848	35189848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:35189848C>G	ENST00000156471.5	-	21	2527	c.2302G>C	c.(2302-2304)Gat>Cat	p.D768H		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	768					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGTCTTCATCTTCCACATCC	0.378																																						uc001ziv.2		NA																	0				large_intestine(1)	1						c.(2302-2304)GAT>CAT		aquarius							130.0	120.0	123.0					15																	35189848		1858	4106	5964	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35189848C>G	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2302G>C	15.37:g.35189848C>G	ENSP00000156471:p.Asp768His						p.D768H	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	21	2483	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	768					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2302G>C	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555444	0.45487	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93906	-3.31	5.66	4.75	0.60458	.	0.294574	0.37437	N	0.002087	D	0.90573	0.7045	L	0.52573	1.65	0.36913	D	0.891015	P	0.39903	0.694	B	0.38056	0.264	D	0.91106	0.4918	10	0.36615	T	0.2	-15.8745	14.472	0.67523	0.0:0.9293:0.0:0.0707	.	768	O60306	AQR_HUMAN	H	768	ENSP00000156471:D768H	ENSP00000156471:D768H	D	-	1	0	AQR	32977140	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	5.723000	0.68492	1.384000	0.46424	0.655000	0.94253	GAT		0.378	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		19	33	0	0	0	0	19	33				
RMDN3	55177	broad.mit.edu	37	15	41030186	41030186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:41030186G>A	ENST00000260385.6	-	8	2169	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.L368F			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	368					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CTGCCAAGAAGAAAGTGAGCC	0.458																																						uc001zmo.1		NA																	0					0						c.(1102-1104)CTT>TTT		family with sequence similarity 82, member A2							186.0	186.0	186.0					15																	41030186		2203	4300	6503	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41030186G>A	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1102C>T	15.37:g.41030186G>A	ENSP00000260385:p.Leu368Phe					FAM82A2_uc001zmp.1_Missense_Mutation_p.L368F|FAM82A2_uc001zmq.1_Missense_Mutation_p.L368F	p.L368F	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			9	1246	-			368					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.1102C>T	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133067	0.77662	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.60672	0.17;0.17	5.23	5.23	0.72850	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.90595	3.13	0.58432	D	0.999991	D	0.71674	0.998	D	0.78314	0.991	T	0.83275	-0.0041	10	0.52906	T	0.07	-7.3607	15.7099	0.77620	0.0:0.0:1.0:0.0	.	368	Q96TC7	RMD3_HUMAN	F	368;368;305	ENSP00000260385:L368F;ENSP00000342493:L368F	ENSP00000260385:L368F	L	-	1	0	FAM82A2	38817478	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.980000	0.70516	2.451000	0.82905	0.655000	0.94253	CTT		0.458	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		38	164	0	0	0	0	38	164				
INO80	54617	broad.mit.edu	37	15	41350928	41350928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:41350928G>A	ENST00000361937.3	-	16	2318	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q632*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	632	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCACCAGCTGATAGCTGGTA	0.453																																						uc001zni.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1894-1896)CAG>TAG		INO80 complex homolog 1							89.0	83.0	85.0					15																	41350928		2203	4300	6503	SO:0001587	stop_gained	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41350928G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1894C>T	15.37:g.41350928G>A	ENSP00000355205:p.Gln632*					INO80_uc010ucu.1_RNA	p.Q632*	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			16	2107	-			632			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.		A6H8X4|Q9NTG6	Nonsense_Mutation	SNP	ENST00000361937.3	37	c.1894C>T	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	G	40	8.439193	0.98813	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	.	.	.	5.2	5.2	0.72013	.	0.060114	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.7219	0.91698	0.0:0.0:1.0:0.0	.	.	.	.	X	632	.	ENSP00000355205:Q632X	Q	-	1	0	INO80	39138220	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.857000	0.99534	2.426000	0.82243	0.561000	0.74099	CAG		0.453	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		21	71	0	0	0	0	21	71				
PLA2G4D	283748	broad.mit.edu	37	15	42375422	42375422	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:42375422C>G	ENST00000290472.3	-	8	740	c.646G>C	c.(646-648)Gag>Cag	p.E216Q		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	216					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCTCTGTCTCTAGGGCTGCC	0.632																																						uc001zox.2		NA																	0				large_intestine(1)|skin(1)	2						c.(646-648)GAG>CAG		phospholipase A2, group IVD							68.0	67.0	67.0					15																	42375422		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42375422C>G	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.646G>C	15.37:g.42375422C>G	ENSP00000290472:p.Glu216Gln						p.E216Q	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	8	741	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	216					Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.646G>C	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	1.926	-0.447167	0.04572	.	.	ENSG00000159337	ENST00000290472	T	0.01197	5.19	3.38	2.42	0.29668	.	0.464971	0.18184	N	0.149029	T	0.00906	0.0030	L	0.27053	0.805	0.24421	N	0.994614	B	0.34214	0.442	B	0.32533	0.147	T	0.45833	-0.9234	10	0.09590	T	0.72	-3.7147	7.7749	0.29030	0.2493:0.7507:0.0:0.0	.	216	Q86XP0	PA24D_HUMAN	Q	216	ENSP00000290472:E216Q	ENSP00000290472:E216Q	E	-	1	0	PLA2G4D	40162714	1.000000	0.71417	0.952000	0.39060	0.907000	0.53573	2.587000	0.46128	0.715000	0.32103	0.511000	0.50034	GAG		0.632	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		10	37	0	0	0	0	10	37				
UNC13C	440279	broad.mit.edu	37	15	54305735	54305735	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:54305735A>T	ENST00000260323.11	+	1	635	c.635A>T	c.(634-636)aAg>aTg	p.K212M	UNC13C_ENST00000537900.1_Missense_Mutation_p.K212M|UNC13C_ENST00000545554.1_Missense_Mutation_p.K212M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	212					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATAAGAAGTAAGTCTTTGGAC	0.438																																						uc002ack.2		NA																	0				ovary(5)|pancreas(2)	7						c.(634-636)AAG>ATG		unc-13 homolog C							88.0	88.0	88.0					15																	54305735		1852	4093	5945	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54305735A>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.635A>T	15.37:g.54305735A>T	ENSP00000260323:p.Lys212Met						p.K212M	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	635	+			212					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.635A>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393545	0.62066	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.85258	-1.96;-1.96;-1.96	4.97	4.97	0.65823	.	.	.	.	.	D	0.86522	0.5953	L	0.27053	0.805	0.43598	D	0.995954	D	0.76494	0.999	D	0.65573	0.936	D	0.88415	0.3024	9	0.87932	D	0	.	13.8568	0.63531	1.0:0.0:0.0:0.0	.	212	Q8NB66	UN13C_HUMAN	M	212	ENSP00000260323:K212M;ENSP00000438156:K212M;ENSP00000442569:K212M	ENSP00000260323:K212M	K	+	2	0	UNC13C	52093027	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.231000	0.78106	1.850000	0.53721	0.528000	0.53228	AAG		0.438	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		23	96	0	0	0	0	23	96				
RAB8B	51762	broad.mit.edu	37	15	63481934	63481934	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:63481934C>T	ENST00000321437.4	+	1	267	c.111C>T	c.(109-111)ttC>ttT	p.F37F	RAB8B_ENST00000448330.2_Silent_p.F37F	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	37					adherens junction organization (GO:0034332)|antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|positive regulation of cell projection organization (GO:0031346)|positive regulation of corticotropin secretion (GO:0051461)|protein import into peroxisome membrane (GO:0045046)|small GTPase mediated signal transduction (GO:0007264)	cell tip (GO:0051286)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						ACACCACCTTCATCTCCACCA	0.647																																						uc002alz.2		NA																	0				ovary(1)|kidney(1)	2						c.(109-111)TTC>TTT		RAB8B, member RAS oncogene family							52.0	42.0	45.0					15																	63481934		2203	4300	6503	SO:0001819	synonymous_variant	51762				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr15:63481934C>T	AL833365	CCDS10183.1	15q22	2008-11-18			ENSG00000166128	ENSG00000166128		"""RAB, member RAS oncogene"""	30273	protein-coding gene	gene with protein product		613532				9030196, 18772196	Standard	XM_006720569		Approved		uc002alz.3	Q92930	OTTHUMG00000132862	ENST00000321437.4:c.111C>T	15.37:g.63481934C>T						RAB8B_uc010uih.1_Silent_p.F37F	p.F37F	NM_016530	NP_057614	Q92930	RAB8B_HUMAN			1	207	+			37			Effector region (By similarity).		Q5JPC4|Q9P293	Silent	SNP	ENST00000321437.4	37	c.111C>T	CCDS10183.1																																																																																				0.647	RAB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256336.1	NM_016530		9	35	0	0	0	0	9	35				
SLC24A1	9187	broad.mit.edu	37	15	65916745	65916745	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:65916745G>A	ENST00000261892.6	+	2	614	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC24A1_ENST00000544319.2_Silent_p.E109E|SLC24A1_ENST00000339868.6_Silent_p.E109E|SLC24A1_ENST00000546330.1_Silent_p.E109E|SLC24A1_ENST00000537259.1_Silent_p.E109E|SLC24A1_ENST00000399033.4_Silent_p.E109E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	109					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGACAGTGGAGAATATCCCCA	0.493																																						uc010ujf.1		NA																	0					0						c.(325-327)GAG>GAA		solute carrier family 24							77.0	77.0	77.0					15																	65916745		2033	4191	6224	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65916745G>A	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.327G>A	15.37:g.65916745G>A						SLC24A1_uc010ujd.1_Silent_p.E109E|SLC24A1_uc010uje.1_Silent_p.E109E|SLC24A1_uc010ujg.1_Silent_p.E109E|SLC24A1_uc010ujh.1_Silent_p.E109E	p.E109E	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	614	+			109			Extracellular (Potential).		O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.327G>A	CCDS45284.1																																																																																				0.493	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		4	21	0	0	0	0	4	21				
SLC24A1	9187	broad.mit.edu	37	15	65918077	65918077	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:65918077C>T	ENST00000261892.6	+	2	1946	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	SLC24A1_ENST00000544319.2_Silent_p.L553L|SLC24A1_ENST00000339868.6_Silent_p.L553L|SLC24A1_ENST00000546330.1_Silent_p.L553L|SLC24A1_ENST00000537259.1_Silent_p.L553L|SLC24A1_ENST00000399033.4_Silent_p.L553L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	553					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTCAACCTCACCTGGTGGC	0.517																																						uc010ujf.1		NA																	0					0						c.(1657-1659)CTC>CTT		solute carrier family 24							283.0	287.0	286.0					15																	65918077		2149	4276	6425	SO:0001819	synonymous_variant	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918077C>T	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1659C>T	15.37:g.65918077C>T						SLC24A1_uc010ujd.1_Silent_p.L553L|SLC24A1_uc010uje.1_Silent_p.L553L|SLC24A1_uc010ujg.1_Silent_p.L553L|SLC24A1_uc010ujh.1_Silent_p.L553L	p.L553L	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	1946	+			553			Cytoplasmic (Potential).		O43485|O75184|Q17RM9	Silent	SNP	ENST00000261892.6	37	c.1659C>T	CCDS45284.1																																																																																				0.517	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		25	104	0	0	0	0	25	104				
PEAK1	79834	broad.mit.edu	37	15	77473623	77473623	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:77473623C>G	ENST00000560626.2	-	4	1121	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E216Q|PEAK1_ENST00000558305.1_Missense_Mutation_p.E216Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	216					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTAATCACTTCTGTGCTCCCA	0.458																																						uc002bcm.2		NA																	0					0						c.(646-648)GAA>CAA		NKF3 kinase family member							175.0	163.0	167.0					15																	77473623		1892	4117	6009	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473623C>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.646G>C	15.37:g.77473623C>G	ENSP00000452796:p.Glu216Gln					SGK269_uc002bcn.2_Missense_Mutation_p.E216Q	p.E216Q	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	954	-			216					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.646G>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957344	0.73902	.	.	ENSG00000173517	ENST00000312493	T	0.72167	-0.63	5.42	5.42	0.78866	.	0.000000	0.34133	U	0.004237	T	0.70771	0.3262	L	0.27053	0.805	0.51482	D	0.999929	D	0.57899	0.981	P	0.52109	0.69	T	0.74659	-0.3591	10	0.66056	D	0.02	-8.3052	19.2384	0.93871	0.0:1.0:0.0:0.0	.	216	Q9H792	PEAK1_HUMAN	Q	216	ENSP00000309230:E216Q	ENSP00000309230:E216Q	E	-	1	0	AC087465.1	75260678	1.000000	0.71417	0.997000	0.53966	0.837000	0.47467	4.809000	0.62591	2.549000	0.85964	0.650000	0.86243	GAA		0.458	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			34	126	0	0	0	0	34	126				
ZNF710	374655	broad.mit.edu	37	15	90616485	90616485	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:90616485C>A	ENST00000268154.4	+	3	1892	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGAAGCCATTCAAATGCAAGG	0.602																																						uc002bov.1		NA																	0				central_nervous_system(1)	1						c.(1639-1641)TTC>TTA		zinc finger protein 710							89.0	86.0	87.0					15																	90616485		2200	4298	6498	SO:0001583	missense	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90616485C>A	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1641C>A	15.37:g.90616485C>A	ENSP00000268154:p.Phe547Leu						p.F547L	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		3	1764	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		547			C2H2-type 10.		A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	c.1641C>A	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927500	0.92389	.	.	ENSG00000140548	ENST00000268154	T	0.65732	-0.17	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.075712	0.50627	D	0.000103	T	0.79828	0.4513	M	0.80332	2.49	0.58432	D	0.999993	D	0.69078	0.997	D	0.79108	0.992	T	0.82418	-0.0467	10	0.72032	D	0.01	-34.2187	15.8832	0.79219	0.0:1.0:0.0:0.0	.	547	Q8N1W2	ZN710_HUMAN	L	547	ENSP00000268154:F547L	ENSP00000268154:F547L	F	+	3	2	ZNF710	88417489	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.663000	0.54518	2.605000	0.88082	0.561000	0.74099	TTC		0.602	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		14	58	1	0	1.15e-07	1.65e-07	14	58				
PRC1	9055	broad.mit.edu	37	15	91522476	91522476	+	Missense_Mutation	SNP	C	C	T	rs529515389		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:91522476C>T	ENST00000361188.5	-	8	2230	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	PRC1_ENST00000361919.3_Missense_Mutation_p.R340Q|PRC1_ENST00000442656.2_Missense_Mutation_p.R299Q|Y_RNA_ENST00000363272.1_RNA|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R340Q					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTTTTTTAACCGCACAATCTC	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17962	0.0		0.0	False		,,,				2504	0.0					uc002bqm.2		NA																	0				ovary(1)|skin(1)	2						c.(1018-1020)CGG>CAG		protein regulator of cytokinesis 1 isoform 1							121.0	121.0	121.0					15																	91522476		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91522476C>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1019G>A	15.37:g.91522476C>T	ENSP00000354679:p.Arg340Gln					PRC1_uc002bqn.2_Missense_Mutation_p.R340Q|PRC1_uc002bqo.2_Missense_Mutation_p.R340Q|PRC1_uc010uqs.1_Missense_Mutation_p.R299Q	p.R340Q	NM_003981	NP_003972	O43663	PRC1_HUMAN			8	1176	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		340			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.1019G>A	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	7.612	0.675054	0.14841	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656;ENST00000556982	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.55	-4.38	0.03622	.	0.692382	0.14787	N	0.298421	T	0.20170	0.0485	L	0.31578	0.945	0.09310	N	0.999999	B;B;B;B	0.24092	0.007;0.097;0.011;0.004	B;B;B;B	0.21151	0.02;0.033;0.013;0.014	T	0.10567	-1.0624	10	0.41790	T	0.15	.	14.8194	0.70059	0.0:0.4596:0.0:0.5404	.	299;340;340;340	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	Q	340;340;340;299;114	ENSP00000377793:R340Q;ENSP00000354618:R340Q;ENSP00000354679:R340Q;ENSP00000409549:R299Q	ENSP00000354679:R340Q	R	-	2	0	PRC1	89323480	0.001000	0.12720	0.356000	0.25785	0.008000	0.06430	0.189000	0.17037	-0.688000	0.05155	-1.728000	0.00702	CGG		0.413	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		8	66	0	0	0	0	8	66				
IFT140	9742	broad.mit.edu	37	16	1614075	1614075	+	Missense_Mutation	SNP	C	C	T	rs387907192		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:1614075C>T	ENST00000426508.2	-	17	2353	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	664			E -> K (in SRTD9; partial to complete loss of basal body localization and increase of cytoplasmic localization). {ECO:0000269|PubMed:22503633}.		cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCACGGCTTCGCATACAAAC	0.577																																						uc002cmb.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1990-1992)GAA>AAA		intraflagellar transport 140							54.0	63.0	60.0					16																	1614075		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1614075C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1990G>A	16.37:g.1614075C>T	ENSP00000406012:p.Glu664Lys					IFT140_uc002clz.2_Missense_Mutation_p.E315K	p.E664K	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			17	2352	-		Hepatocellular(780;0.219)	664					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.1990G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075306	0.76415	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	D	0.83506	-1.73	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93035	0.6452	10	0.62326	D	0.03	.	18.6071	0.91271	0.0:1.0:0.0:0.0	.	664;389	Q96RY7;B4DR58	IF140_HUMAN;.	K	664	ENSP00000406012:E664K	ENSP00000380562:E664K	E	-	1	0	IFT140	1554076	1.000000	0.71417	0.789000	0.31954	0.003000	0.03518	7.044000	0.76578	2.407000	0.81776	0.467000	0.42956	GAA		0.577	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		14	58	0	0	0	0	14	58				
SLX4	84464	broad.mit.edu	37	16	3656656	3656656	+	Missense_Mutation	SNP	C	C	G	rs148887586		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:3656656C>G	ENST00000294008.3	-	3	1219	c.579G>C	c.(577-579)ttG>ttC	p.L193F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	193	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGCTGTTGTCAAACAGGAAG	0.512								Direct reversal of damage																														uc002cvp.2		NA																	0					0						c.(577-579)TTG>TTC	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							156.0	154.0	155.0					16																	3656656		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3656656C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.579G>C	16.37:g.3656656C>G	ENSP00000294008:p.Leu193Phe					BTBD12_uc002cvq.1_Missense_Mutation_p.L193F	p.L193F	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			3	1206	-			193			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.579G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907507	0.72868	.	.	ENSG00000188827	ENST00000294008	T	0.01359	4.98	5.03	4.07	0.47477	.	1.440410	0.04550	N	0.389640	T	0.03564	0.0102	L	0.38838	1.175	0.09310	N	1	P	0.50943	0.94	P	0.51079	0.658	T	0.51442	-0.8705	10	0.51188	T	0.08	.	10.5332	0.44988	0.0:0.9088:0.0:0.0912	.	193	Q8IY92	SLX4_HUMAN	F	193	ENSP00000294008:L193F	ENSP00000294008:L193F	L	-	3	2	SLX4	3596657	0.001000	0.12720	0.018000	0.16275	0.642000	0.38348	0.471000	0.22100	1.251000	0.43983	0.561000	0.74099	TTG		0.512	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		41	143	0	0	0	0	41	143				
PLK1	5347	broad.mit.edu	37	16	23698820	23698820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:23698820G>A	ENST00000300093.4	+	6	1178	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	356					activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGCGTCCCCGGGAAAAAGAA	0.592																																					Colon(12;240 564 27038 33155)	uc002dlz.1		NA																	0				lung(1)|skin(1)	2						c.(1066-1068)CGG>CAG		polo-like kinase 1							90.0	88.0	88.0					16																	23698820		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23698820G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.1067G>A	16.37:g.23698820G>A	ENSP00000300093:p.Arg356Gln						p.R356Q	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	6	1120	+			356					Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.1067G>A	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986091	0.35036	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.65916	-0.18	5.8	3.64	0.41730	.	0.408437	0.28436	N	0.015350	T	0.39009	0.1062	N	0.16478	0.41	0.31569	N	0.656573	B	0.14438	0.01	B	0.10450	0.005	T	0.29518	-1.0009	10	0.11182	T	0.66	-21.7781	8.5524	0.33460	0.0:0.3209:0.5373:0.1418	.	356	P53350	PLK1_HUMAN	Q	356;259	ENSP00000300093:R356Q	ENSP00000300093:R356Q	R	+	2	0	PLK1	23606321	0.967000	0.33354	1.000000	0.80357	0.921000	0.55340	0.831000	0.27476	2.735000	0.93741	0.655000	0.94253	CGG		0.592	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		10	136	0	0	0	0	10	136				
RABEP2	79874	broad.mit.edu	37	16	28925721	28925721	+	Missense_Mutation	SNP	C	C	T	rs544986643		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:28925721C>T	ENST00000358201.4	-	5	1318	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	RABEP2_ENST00000544477.1_Missense_Mutation_p.G173S|RABEP2_ENST00000357573.6_Missense_Mutation_p.G244S|RABEP2_ENST00000561803.1_5'Flank	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	244					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GAGCTGCTGCCGACCCCACCG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		16797	0.001		0.0	False		,,,				2504	0.0				Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(730-732)GGC>AGC		rabaptin, RAB GTPase binding effector protein 2							19.0	24.0	23.0					16																	28925721		2038	4191	6229	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28925721C>T	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.730G>A	16.37:g.28925721C>T	ENSP00000350934:p.Gly244Ser					uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.G173S|RABEP2_uc010byn.2_Missense_Mutation_p.G244S|RABEP2_uc002drr.2_Missense_Mutation_p.G244S	p.G244S	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			5	778	-			244						Missense_Mutation	SNP	ENST00000358201.4	37	c.730G>A	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	3.472	-0.107715	0.06924	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.43688	0.95;0.94;0.96	5.27	-0.417	0.12347	.	0.636219	0.15437	N	0.262413	T	0.21631	0.0521	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.23990	0.095;0.001;0.001;0.001	B;B;B;B	0.15484	0.013;0.005;0.001;0.002	T	0.11084	-1.0602	10	0.41790	T	0.15	-8.2416	7.8705	0.29563	0.0:0.4558:0.0:0.5442	.	173;244;244;244	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	S	244;244;173	ENSP00000350934:G244S;ENSP00000350186:G244S;ENSP00000442798:G173S	ENSP00000350186:G244S	G	-	1	0	RABEP2	28833222	0.001000	0.12720	0.000000	0.03702	0.313000	0.28021	-0.712000	0.05013	-0.336000	0.08438	0.462000	0.41574	GGC		0.672	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		10	35	0	0	0	0	10	35				
FHOD1	29109	broad.mit.edu	37	16	67272351	67272351	+	Splice_Site	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:67272351C>T	ENST00000258201.4	-	4	621		c.e4-1			NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1						positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TACAGCTTTTCTGCAAAAGGT	0.502																																						uc002esl.2		NA																	0				breast(2)|ovary(1)	3						c.e4-1		formin homology 2 domain containing 1							63.0	61.0	62.0					16																	67272351		2198	4300	6498	SO:0001630	splice_region_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67272351C>T	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.374-1G>A	16.37:g.67272351C>T						FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR	p.E125_splice	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	4	486	-		Ovarian(137;0.0563)						Q59F76|Q6Y1F2|Q76MS8|Q8N521	Splice_Site	SNP	ENST00000258201.4	37	c.374_splice	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005979	0.35415	.	.	ENSG00000135723	ENST00000258201	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0127	0.86411	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FHOD1	65829852	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	7.575000	0.82447	2.257000	0.74773	0.655000	0.94253	.		0.502	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2		Intron	4	21	0	0	0	0	4	21				
C16orf46	123775	broad.mit.edu	37	16	81095518	81095518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:81095518C>T	ENST00000299578.5	-	4	671	c.436G>A	c.(436-438)Gca>Aca	p.A146T	C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000378611.4_Missense_Mutation_p.A146T	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	146						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCGCTAATTGCCCTGGAAGCA	0.572																																						uc002fgc.3		NA																	0					0						c.(436-438)GCA>ACA		chromosome 16 open reading frame 46 isoform 2							99.0	107.0	105.0					16																	81095518		2202	4300	6502	SO:0001583	missense	123775							g.chr16:81095518C>T	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.436G>A	16.37:g.81095518C>T	ENSP00000299578:p.Ala146Thr					C16orf46_uc010chf.2_Missense_Mutation_p.A146T|C16orf46_uc010vno.1_5'UTR	p.A146T	NM_152337	NP_689550	Q6P387	CP046_HUMAN			4	695	-			146					Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	37	c.436G>A	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663224	0.29515	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.14516	2.5;2.5	5.86	4.91	0.64330	.	0.482639	0.20717	N	0.086990	T	0.09069	0.0224	N	0.22421	0.69	0.23396	N	0.997767	B;B	0.26708	0.157;0.157	B;B	0.26416	0.069;0.069	T	0.32107	-0.9919	10	0.21540	T	0.41	.	9.0919	0.36617	0.0:0.8339:0.0:0.1661	.	146;146	Q6P387-2;Q6P387	.;CP046_HUMAN	T	146	ENSP00000367874:A146T;ENSP00000299578:A146T	ENSP00000299578:A146T	A	-	1	0	C16orf46	79653019	0.998000	0.40836	0.912000	0.35992	0.016000	0.09150	1.566000	0.36396	1.483000	0.48342	0.563000	0.77884	GCA		0.572	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		5	188	0	0	0	0	5	188				
CTNS	1497	broad.mit.edu	37	17	3550808	3550808	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:3550808C>T	ENST00000046640.3	+	4	725	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CTNS_ENST00000441220.2_Intron|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000381870.3_Silent_p.L44L|CTNS_ENST00000414524.2_Intron|CTNS_ENST00000399306.2_Silent_p.L44L	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	44					adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACGTCAGCCTCACCCTGCGGT	0.602																																						uc002fwb.2		NA																	0					0						c.(130-132)CTC>CTT		cystinosin isoform 2	L-Cystine(DB00138)						135.0	100.0	112.0					17																	3550808		2203	4300	6503	SO:0001819	synonymous_variant	1497				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity	g.chr17:3550808C>T	AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.132C>T	17.37:g.3550808C>T						CTNS_uc002fwa.2_Silent_p.L44L|CTNS_uc010ckj.2_Silent_p.L44L|CTNS_uc010vrv.1_Intron|CTNS_uc010vrw.1_Intron	p.L44L	NM_004937	NP_004928	O60931	CTNS_HUMAN		COAD - Colon adenocarcinoma(5;0.0829)	4	725	+			44			Lumenal (Potential).		D3DTJ5|Q8IZ01|Q9UNK6	Silent	SNP	ENST00000046640.3	37	c.132C>T	CCDS11031.1																																																																																				0.602	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317696.1	NM_004937		7	27	0	0	0	0	7	27				
SPNS2	124976	broad.mit.edu	37	17	4436304	4436304	+	Missense_Mutation	SNP	C	C	T	rs201942959		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:4436304C>T	ENST00000329078.3	+	7	1178	c.968C>T	c.(967-969)tCg>tTg	p.S323L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	323					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGCCACGTCGGCTGTCTCC	0.662																																						uc002fxx.2		NA																	0					0						c.(967-969)TCG>TTG		spinster homolog 2							42.0	42.0	42.0					17																	4436304		1568	3580	5148	SO:0001583	missense	124976				lipid transport|transmembrane transport	integral to membrane		g.chr17:4436304C>T	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.968C>T	17.37:g.4436304C>T	ENSP00000333292:p.Ser323Leu						p.S323L	NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN			7	1182	+			323			Helical; (Potential).		B9A1T3	Missense_Mutation	SNP	ENST00000329078.3	37	c.968C>T	CCDS42237.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003439	0.93287	.	.	ENSG00000183018	ENST00000329078	T	0.56776	0.44	4.75	4.75	0.60458	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.141858	0.48286	D	0.000191	T	0.42017	0.1184	N	0.19112	0.55	0.54753	D	0.99998	B	0.18968	0.032	B	0.24394	0.053	T	0.40813	-0.9543	10	0.87932	D	0	.	16.29	0.82742	0.0:1.0:0.0:0.0	.	323	Q8IVW8	SPNS2_HUMAN	L	323	ENSP00000333292:S323L	ENSP00000333292:S323L	S	+	2	0	SPNS2	4383053	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	7.783000	0.85696	2.189000	0.69895	0.313000	0.20887	TCG		0.662	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1			15	51	0	0	0	0	15	51				
ZFP3	124961	broad.mit.edu	37	17	4996049	4996049	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:4996049G>T	ENST00000318833.3	+	2	1586	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATTCATACTGGAGAGAAACCC	0.428																																						uc002gaq.2		NA																	0					0						c.(1249-1251)GGA>GTA		zinc finger protein-3							67.0	66.0	67.0					17																	4996049		2203	4300	6503	SO:0001583	missense	124961				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:4996049G>T	BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1250G>T	17.37:g.4996049G>T	ENSP00000320347:p.Gly417Val						p.G417V	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN			2	1375	+			417					A5PLL4	Missense_Mutation	SNP	ENST00000318833.3	37	c.1250G>T	CCDS11067.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140104	0.56936	.	.	ENSG00000180787	ENST00000318833	T	0.23552	1.9	3.96	3.96	0.45880	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	N	0.003044	T	0.55242	0.1908	M	0.86805	2.84	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.64097	-0.6487	10	0.87932	D	0	-19.0179	14.329	0.66541	0.0:0.0:1.0:0.0	.	417	Q96NJ6	ZFP3_HUMAN	V	417	ENSP00000320347:G417V	ENSP00000320347:G417V	G	+	2	0	ZFP3	4936773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.424000	0.66464	2.507000	0.84556	0.655000	0.94253	GGA		0.428	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438979.1	NM_153018		15	63	1	0	2.62e-11	3.89e-11	15	63				
ALOX12	239	broad.mit.edu	37	17	6905118	6905118	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:6905118C>A	ENST00000251535.6	+	8	1202	c.1149C>A	c.(1147-1149)caC>caA	p.H383Q	AC027763.2_ENST00000399540.2_3'UTR|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	383	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAGGACTGCACCCCATCTTCA	0.488																																						uc002gdx.3		NA																	0				central_nervous_system(1)	1						c.(1147-1149)CAC>CAA		arachidonate 12-lipoxygenase							72.0	64.0	67.0					17																	6905118		2203	4300	6503	SO:0001583	missense	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6905118C>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1149C>A	17.37:g.6905118C>A	ENSP00000251535:p.His383Gln					uc002gdy.1_RNA	p.H383Q	NM_000697	NP_000688	P18054	LOX12_HUMAN			8	1202	+			383			Lipoxygenase.		O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	ENST00000251535.6	37	c.1149C>A	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490641	0.64074	.	.	ENSG00000108839	ENST00000251535	D	0.86097	-2.07	4.74	3.76	0.43208	Lipoxygenase, C-terminal (4);Lipoxygenase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93844	0.8031	H	0.95712	3.71	0.42217	D	0.991834	D	0.89917	1.0	D	0.77557	0.99	D	0.94741	0.7919	10	0.87932	D	0	-4.2769	11.2975	0.49286	0.0:0.9092:0.0:0.0908	.	383	P18054	LOX12_HUMAN	Q	383	ENSP00000251535:H383Q	ENSP00000251535:H383Q	H	+	3	2	ALOX12	6845842	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.725000	0.25970	1.330000	0.45394	0.573000	0.79308	CAC		0.488	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			16	68	1	0	6.32e-08	9.11e-08	16	68				
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:7576855G>A	ENST00000269305.4	-	9	1180	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTAGTACCTGAAGGGTGAAA	0.448		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		34	Substitution - Nonsense(23)|Whole gene deletion(8)|Insertion - Frameshift(2)|Unknown(1)	p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(1)	lung(6)|large_intestine(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|skin(2)|ovary(2)|stomach(1)|breast(1)|oesophagus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(991-993)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							115.0	108.0	110.0					17																	7576855		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576855G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.991C>T	17.37:g.7576855G>A	ENSP00000269305:p.Gln331*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331*	p.Q331*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1185	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	331		Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.991C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117678	0.77323	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.95	2.88	0.33553	.	0.253251	0.40469	N	0.001098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-17.7352	9.751	0.40475	0.0:0.0:0.4869:0.5131	.	.	.	.	X	331;331;331;331;331;320;199	.	ENSP00000269305:Q331X	Q	-	1	0	TP53	7517580	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.858000	0.39408	0.557000	0.29117	-0.314000	0.08810	CAG		0.448	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	51	0	0	0	0	12	51				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM951226	TP53	M		c.(637-639)CGA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174*	p.R213*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	831	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	25	0	0	0	0	8	25				
PIK3R5	23533	broad.mit.edu	37	17	8790443	8790443	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:8790443G>C	ENST00000447110.1	-	12	1999	c.1875C>G	c.(1873-1875)ctC>ctG	p.L625L	PIK3R5_ENST00000581552.1_Silent_p.L625L|PIK3R5_ENST00000584803.1_Silent_p.L625L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	625					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCAGGTGCATGAGGCCCAGTA	0.622																																					NSCLC(18;589 615 7696 20311 50332)	uc002glt.2		NA																	0				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1873-1875)CTC>CTG		phosphoinositide-3-kinase, regulatory subunit 5							125.0	93.0	104.0					17																	8790443		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8790443G>C	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1875C>G	17.37:g.8790443G>C						PIK3R5_uc010vuz.1_Silent_p.L625L|PIK3R5_uc002glu.3_Silent_p.L239L	p.L625L	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN			12	1942	-			625					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.1875C>G	CCDS11147.1																																																																																				0.622	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		8	37	0	0	0	0	8	37				
ZNF624	57547	broad.mit.edu	37	17	16527194	16527194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:16527194C>T	ENST00000311331.7	-	6	1097	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTCCACATTCATTACATTTA	0.368																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1006-1008)GAA>AAA		zinc finger protein 624							112.0	107.0	109.0					17																	16527194		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16527194C>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.1006G>A	17.37:g.16527194C>T	ENSP00000310472:p.Glu336Lys						p.E336K	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	6	1089	-			336			C2H2-type 3.		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.1006G>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455173	0.43634	.	.	ENSG00000197566	ENST00000311331	T	0.07327	3.2	2.79	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	L	0.41236	1.265	0.22737	N	0.998796	P	0.37233	0.588	B	0.41299	0.353	T	0.20306	-1.0279	9	0.46703	T	0.11	.	7.8686	0.29552	0.0:0.7427:0.2573:0.0	.	336	Q9P2J8	ZN624_HUMAN	K	336	ENSP00000310472:E336K	ENSP00000310472:E336K	E	-	1	0	ZNF624	16467919	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.176000	0.16782	1.877000	0.54381	0.563000	0.77884	GAA		0.368	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		24	79	0	0	0	0	24	79				
MPRIP	23164	broad.mit.edu	37	17	17061836	17061836	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:17061836G>A	ENST00000341712.4	+	14	1566	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	MPRIP_ENST00000395811.5_Silent_p.P522P|MPRIP_ENST00000395804.3_Silent_p.P522P|MPRIP_ENST00000444976.1_Silent_p.P484P			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	522						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)		p.P522P(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGGGGGAGCCGGACCCTGAGC	0.632																																						uc002gqu.1		NA																	1	Substitution - coding silent(1)		ovary(1)		0						c.(1564-1566)CCG>CCA		myosin phosphatase-Rho interacting protein							19.0	23.0	22.0					17																	17061836		2202	4298	6500	SO:0001819	synonymous_variant	23164					cytoplasm|cytoskeleton	actin binding	g.chr17:17061836G>A	BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1566G>A	17.37:g.17061836G>A						MPRIP_uc002gqv.1_Silent_p.P522P|MPRIP_uc002gqw.1_Silent_p.P277P	p.P522P	NM_201274	NP_958431	Q6WCQ1	MPRIP_HUMAN			14	1622	+			522					Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Silent	SNP	ENST00000341712.4	37	c.1566G>A	CCDS32578.1	.	.	.	.	.	.	.	.	.	.	G	3.882	-0.025704	0.07589	.	.	ENSG00000133030	ENST00000423885	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.44767	0.1309	.	.	.	0.41767	D	0.989744	.	.	.	.	.	.	T	0.57382	-0.7821	4	.	.	.	.	8.0652	0.30657	0.1615:0.303:0.4602:0.0753	.	.	.	.	Q	9	.	.	R	+	2	0	MPRIP	17002561	0.000000	0.05858	0.140000	0.22221	0.485000	0.33311	-1.457000	0.02374	-2.998000	0.00277	-1.138000	0.01928	CGG		0.632	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		9	42	0	0	0	0	9	42				
ULK2	9706	broad.mit.edu	37	17	19748690	19748690	+	Splice_Site	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:19748690G>A	ENST00000395544.4	-	7	969	c.470C>T	c.(469-471)gCg>gTg	p.A157V	ULK2_ENST00000361658.2_Splice_Site_p.A157V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACCAAAATCCGCTATTTCACA	0.413																																						uc002gwm.3		NA																	0				skin(2)|large_intestine(1)|stomach(1)	4						c.(469-471)GCG>GTG		unc-51-like kinase 2							142.0	119.0	127.0					17																	19748690		2203	4300	6503	SO:0001630	splice_region_variant	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19748690G>A	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.470-1C>T	17.37:g.19748690G>A						ULK2_uc002gwn.2_Missense_Mutation_p.A157V	p.A157V	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN			7	979	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		157			Protein kinase.		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.470C>T	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347461	0.95807	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.27104	1.69;1.69	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	L	0.46567	1.45	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.43327	-0.9398	10	0.87932	D	0	.	17.7819	0.88526	0.0:0.0:1.0:0.0	.	157	Q8IYT8	ULK2_HUMAN	V	157	ENSP00000354877:A157V;ENSP00000378914:A157V	ENSP00000354877:A157V	A	-	2	0	ULK2	19689282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.383000	0.97214	2.444000	0.82710	0.591000	0.81541	GCG		0.413	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683	Missense_Mutation	8	22	0	0	0	0	8	22				
GAS2L2	246176	broad.mit.edu	37	17	34072759	34072759	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:34072759C>T	ENST00000254466.6	-	6	1784	c.1757G>A	c.(1756-1758)cGg>cAg	p.R586Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R570Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	586					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTGTGTACCGCCCCTCCTG	0.582																																						uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(1756-1758)CGG>CAG		growth arrest-specific 2 like 2							74.0	72.0	73.0					17																	34072759		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072759C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1757G>A	17.37:g.34072759C>T	ENSP00000254466:p.Arg586Gln						p.R586Q	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1785	-		Ovarian(249;0.17)	586					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1757G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320072	0.23994	.	.	ENSG00000132139	ENST00000254466	T	0.19105	2.17	4.69	-6.53	0.01866	.	11.136800	0.01116	N	0.005692	T	0.12178	0.0296	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20273	-1.0280	10	0.27785	T	0.31	-6.9338	7.5274	0.27664	0.0:0.4212:0.2072:0.3717	.	586	Q8NHY3	GA2L2_HUMAN	Q	586	ENSP00000254466:R586Q	ENSP00000254466:R586Q	R	-	2	0	GAS2L2	31096872	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.973000	0.03555	-2.426000	0.00216	CGG		0.582	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		20	90	0	0	0	0	20	90				
PTRF	284119	broad.mit.edu	37	17	40557194	40557194	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:40557194G>A	ENST00000357037.5	-	2	1103	c.684C>T	c.(682-684)cgC>cgT	p.R228R		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGTCGTCCACGCGCCGCAGGC	0.612																																						uc002hzo.2		NA																	0				breast(1)	1						c.(682-684)CGC>CGT		polymerase I and transcript release factor							104.0	104.0	104.0					17																	40557194		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557194G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.684C>T	17.37:g.40557194G>A						PTRF_uc010wgi.1_Silent_p.R210R	p.R228R	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	843	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	228			Potential.			Silent	SNP	ENST00000357037.5	37	c.684C>T	CCDS11425.1																																																																																				0.612	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		27	111	0	0	0	0	27	111				
WNK4	65266	broad.mit.edu	37	17	40940726	40940726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:40940726G>C	ENST00000246914.5	+	11	2089	c.2068G>C	c.(2068-2070)Gag>Cag	p.E690Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	690					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGAGTGGTTGAGTGCCAGCT	0.542																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(2068-2070)GAG>CAG		WNK lysine deficient protein kinase 4							131.0	94.0	107.0					17																	40940726		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40940726G>C	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2068G>C	17.37:g.40940726G>C	ENSP00000246914:p.Glu690Gln					WNK4_uc010wgx.1_Missense_Mutation_p.E354Q|WNK4_uc002ibk.1_Missense_Mutation_p.E462Q|WNK4_uc010wgy.1_Missense_Mutation_p.E34Q	p.E690Q	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	11	2089	+		Breast(137;0.000143)	690					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2068G>C	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.670125	0.88348	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.34859	1.34	4.98	4.98	0.66077	.	0.000000	0.49916	D	0.000137	T	0.59998	0.2235	M	0.69523	2.12	0.47905	D	0.99954	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.996;0.996	T	0.59579	-0.7428	10	0.45353	T	0.12	-15.5421	17.1747	0.86838	0.0:0.0:1.0:0.0	.	34;690;690;690	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	Q	690;462;34	ENSP00000246914:E690Q	ENSP00000246914:E690Q	E	+	1	0	WNK4	38194252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.598000	0.87819	0.655000	0.94253	GAG		0.542	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			14	43	0	0	0	0	14	43				
SMARCD2	6603	broad.mit.edu	37	17	61910724	61910724	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:61910724G>C	ENST00000448276.2	-	11	1639	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	SMARCD2_ENST00000225742.9_Silent_p.L383L|SMARCD2_ENST00000323347.10_Silent_p.L410L	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	458					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TGCTAAAACTGAGCATGAAAT	0.537																																						uc010deb.1		NA																	0					0						c.(1372-1374)CTC>CTG		SWI/SNF-related matrix-associated							120.0	121.0	121.0					17																	61910724		2003	4215	6218	SO:0001819	synonymous_variant	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61910724G>C	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1374C>G	17.37:g.61910724G>C						SMARCD2_uc010wpt.1_Silent_p.L410L|SMARCD2_uc010dea.1_Silent_p.L383L|SMARCD2_uc010dec.1_Silent_p.L437L	p.L458L	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN			11	1691	-			458					A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Silent	SNP	ENST00000448276.2	37	c.1374C>G	CCDS45756.1																																																																																				0.537	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		23	64	0	0	0	0	23	64				
LLGL2	3993	broad.mit.edu	37	17	73564865	73564865	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:73564865G>C	ENST00000392550.3	+	12	1384	c.1267G>C	c.(1267-1269)Gat>Cat	p.D423H	LLGL2_ENST00000577200.1_Missense_Mutation_p.D423H|LLGL2_ENST00000167462.5_Missense_Mutation_p.D423H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	423					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTGGCCAATTGATGGTGGCAC	0.597																																						uc002joh.2		NA																	0				ovary(2)	2						c.(1267-1269)GAT>CAT		lethal giant larvae homolog 2 isoform c							53.0	53.0	53.0					17																	73564865		2203	4300	6503	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73564865G>C	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1267G>C	17.37:g.73564865G>C	ENSP00000376333:p.Asp423His					LLGL2_uc002joi.2_Missense_Mutation_p.D423H|LLGL2_uc010dgg.1_Missense_Mutation_p.D423H|LLGL2_uc002joj.2_Missense_Mutation_p.D412H|LLGL2_uc010wsd.1_Missense_Mutation_p.D50H	p.D423H	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		12	1421	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		423			WD 8.		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.1267G>C	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.661171	0.00772	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.31247	1.5;1.5	5.33	2.2	0.27929	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.322570	0.37393	N	0.002101	T	0.46964	0.1420	M	0.72118	2.19	0.19775	N	0.999959	B;D;D;D;P	0.60160	0.321;0.987;0.984;0.984;0.953	B;D;P;P;P	0.64877	0.138;0.93;0.885;0.881;0.863	T	0.24835	-1.0149	10	0.59425	D	0.04	-0.4761	8.0603	0.30629	0.1447:0.132:0.7233:0.0	.	50;412;412;423;423	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	H	423;423;412	ENSP00000167462:D423H;ENSP00000376333:D423H	ENSP00000167462:D423H	D	+	1	0	LLGL2	71076460	0.931000	0.31567	0.681000	0.30009	0.111000	0.19643	3.439000	0.52878	0.592000	0.29728	0.561000	0.74099	GAT		0.597	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		6	40	0	0	0	0	6	40				
ANKRD12	23253	broad.mit.edu	37	18	9255172	9255172	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:9255172C>T	ENST00000262126.4	+	9	2147	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L	ANKRD12_ENST00000383440.2_Missense_Mutation_p.S613L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S613L	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	636						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTTGAAAATTcagattgcaca	0.274																																						uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1906-1908)TCA>TTA		ankyrin repeat domain 12 isoform 1							33.0	36.0	35.0					18																	9255172		2201	4291	6492	SO:0001583	missense	23253					nucleus		g.chr18:9255172C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1907C>T	18.37:g.9255172C>T	ENSP00000262126:p.Ser636Leu					ANKRD12_uc002knw.2_Missense_Mutation_p.S613L|ANKRD12_uc002knx.2_Missense_Mutation_p.S613L|ANKRD12_uc010dkx.1_Missense_Mutation_p.S343L	p.S636L	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	2164	+			636					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.1907C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882282	0.72294	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	D;D	0.93953	-3.32;-3.32	5.53	5.53	0.82687	.	0.291507	0.33895	N	0.004443	D	0.96396	0.8824	M	0.65975	2.015	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.83275	0.996;0.996;0.84	D	0.96442	0.9327	10	0.66056	D	0.02	-17.2127	19.4706	0.94962	0.0:1.0:0.0:0.0	.	263;613;636	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	L	613;636;343	ENSP00000372932:S613L;ENSP00000262126:S636L	ENSP00000262126:S636L	S	+	2	0	ANKRD12	9245172	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.359000	0.66074	2.611000	0.88343	0.460000	0.39030	TCA		0.274	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		14	51	0	0	0	0	14	51				
GNAL	2774	broad.mit.edu	37	18	11752499	11752499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:11752499G>A	ENST00000423027.3	+	1	388	c.67G>A	c.(67-69)Gag>Aag	p.E23K	GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Missense_Mutation_p.E23K|GNAL_ENST00000535121.1_Missense_Mutation_p.E23K			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	23					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AGAACGACGCGAGGCCAACAA	0.612																																						uc010dkz.2		NA																	0				ovary(1)	1						c.(67-69)GAG>AAG		guanine nucleotide binding protein (G protein),							86.0	84.0	85.0					18																	11752499		2203	4300	6503	SO:0001583	missense	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11752499G>A	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.67G>A	18.37:g.11752499G>A	ENSP00000408489:p.Glu23Lys					GNAL_uc002kqc.2_Intron|GNAL_uc002kqd.2_Missense_Mutation_p.E23K	p.E23K	NM_001142339	NP_001135811	P38405	GNAL_HUMAN			2	313	+			23					B7ZA26|Q86XU3	Missense_Mutation	SNP	ENST00000423027.3	37	c.67G>A	CCDS11852.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171355	0.38315	.	.	ENSG00000141404	ENST00000535121;ENST00000269162;ENST00000423027	D;D;D	0.88277	-2.36;-2.36;-2.36	5.01	4.14	0.48551	.	.	.	.	.	T	0.80433	0.4622	N	0.13235	0.315	0.34483	D	0.70406	B	0.20550	0.046	B	0.20767	0.031	T	0.80058	-0.1541	9	0.38643	T	0.18	.	13.699	0.62597	0.0747:0.0:0.9253:0.0	.	23	P38405	GNAL_HUMAN	K	23	ENSP00000439023:E23K;ENSP00000269162:E23K;ENSP00000408489:E23K	ENSP00000269162:E23K	E	+	1	0	GNAL	11742499	1.000000	0.71417	0.977000	0.42913	0.989000	0.77384	8.928000	0.92853	1.335000	0.45486	0.484000	0.47621	GAG		0.612	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254561.2	NM_182978, NM_002071		18	71	0	0	0	0	18	71				
SYT4	6860	broad.mit.edu	37	18	40853923	40853923	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:40853923G>C	ENST00000255224.3	-	2	839	c.471C>G	c.(469-471)ctC>ctG	p.L157L	SYT4_ENST00000590752.1_Silent_p.L139L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	157	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGAGAAGAAGAGAGTTCCCA	0.453																																					NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	0				skin(5)	5						c.(469-471)CTC>CTG		synaptotagmin IV							47.0	47.0	47.0					18																	40853923		2203	4299	6502	SO:0001819	synonymous_variant	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40853923G>C	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.471C>G	18.37:g.40853923G>C						SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Silent_p.L139L|SYT4_uc010dnh.2_Intron	p.L157L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	840	-			157			Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	c.471C>G	CCDS11922.1																																																																																				0.453	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		5	33	0	0	0	0	5	33				
ZBTB7C	201501	broad.mit.edu	37	18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A	rs371251738		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:45566526G>A	ENST00000588982.1	-	3	1454	c.953C>T	c.(952-954)cCg>cTg	p.P318L	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P318L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	318	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P318L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCCCCCCGGCAGGTCAGG	0.617																																						uc002lda.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(952-954)CCG>CTG		zinc finger and BTB domain containing 7C		G	LEU/PRO	0,4406		0,0,2203	48.0	53.0	51.0		953	5.3	0.7	18		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZBTB7C	NM_001039360.2	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	318/620	45566526	1,13005	2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566526G>A	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.953C>T	18.37:g.45566526G>A	ENSP00000468782:p.Pro318Leu					ZBTB7C_uc002ldb.2_Missense_Mutation_p.P318L|ZBTB7C_uc010dnu.2_Missense_Mutation_p.P327L|ZBTB7C_uc010dnv.2_Missense_Mutation_p.P340L|ZBTB7C_uc010dnw.2_Missense_Mutation_p.P318L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P367L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P340L|ZBTB7C_uc010don.1_Missense_Mutation_p.P326L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P327L	p.P318L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN			1	969	-			318			Pro-rich.		O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.953C>T	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576716	0.28092	0.0	1.16E-4	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.13307	2.6;2.6	5.34	5.34	0.76211	.	0.467476	0.24752	N	0.035894	T	0.11067	0.0270	N	0.19112	0.55	0.53005	D	0.999968	P;P	0.49253	0.921;0.867	B;B	0.38880	0.284;0.284	T	0.07829	-1.0752	10	0.48119	T	0.1	.	19.0131	0.92882	0.0:0.0:1.0:0.0	.	318;318	B2RG49;A1YPR0	.;ZBT7C_HUMAN	L	318	ENSP00000439781:P318L;ENSP00000328732:P318L	ENSP00000328732:P318L	P	-	2	0	ZBTB7C	43820524	1.000000	0.71417	0.706000	0.30403	0.320000	0.28249	9.827000	0.99397	2.491000	0.84063	0.561000	0.74099	CCG		0.617	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		4	61	0	0	0	0	4	61				
GRP	2922	broad.mit.edu	37	18	56897646	56897646	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:56897646C>G	ENST00000256857.2	+	3	491	c.393C>G	c.(391-393)ctC>ctG	p.L131L	GRP_ENST00000529320.2_Missense_Mutation_p.S125C|GRP_ENST00000420468.2_Intron	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	131					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TTGGTAGACTCTCTGCTCCAG	0.423																																						uc002lhv.2		NA																	0					0						c.(391-393)CTC>CTG		gastrin-releasing peptide isoform 1							81.0	81.0	81.0					18																	56897646		2203	4300	6503	SO:0001819	synonymous_variant	2922				neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity	g.chr18:56897646C>G		CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.393C>G	18.37:g.56897646C>G						GRP_uc002lhu.2_Missense_Mutation_p.S125C|GRP_uc002lhw.2_Intron	p.L131L	NM_002091	NP_002082	P07492	GRP_HUMAN			3	491	+		Colorectal(73;0.0946)	131					P07491|P81553|Q14454|Q53YA0|Q9BSY7	Silent	SNP	ENST00000256857.2	37	c.393C>G	CCDS11971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.78|14.78	2.638392|2.638392	0.47153|0.47153	.|.	.|.	ENSG00000134443|ENSG00000134443	ENST00000456142|ENST00000529320;ENST00000530323	.|T	.|0.33216	.|1.42	5.0|5.0	0.797|0.797	0.18654|0.18654	.|.	0.699661|.	0.12527|.	N|.	0.461123|.	T|T	0.35307|0.35307	0.0927|0.0927	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|P	.|0.53313	.|0.723	T|T	0.20438|0.20438	-1.0275|-1.0275	5|8	.|0.54805	.|T	.|0.06	-0.1086|-0.1086	3.5037|3.5037	0.07683|0.07683	0.3493:0.4595:0.0:0.1912|0.3493:0.4595:0.0:0.1912	.|.	.|125	.|P07492-2	.|.	V|C	85|125;18	.|ENSP00000434101:S125C	.|ENSP00000434101:S125C	L|S	+|+	1|2	0|0	GRP|GRP	55048626|55048626	0.170000|0.170000	0.23016|0.23016	0.430000|0.430000	0.26722|0.26722	0.992000|0.992000	0.81027|0.81027	0.232000|0.232000	0.17891|0.17891	0.327000|0.327000	0.23409|0.23409	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.423	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256131.2	NM_002091		13	59	0	0	0	0	13	59				
DNMT1	1786	broad.mit.edu	37	19	10254621	10254621	+	Silent	SNP	G	G	A	rs150359172		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:10254621G>A	ENST00000340748.4	-	28	3124	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P	DNMT1_ENST00000359526.4_Silent_p.P979P|DNMT1_ENST00000540357.1_Silent_p.P963P|DNMT1_ENST00000589538.1_5'Flank			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	963					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCTCATCCACGGGCTCCTTCC	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		18876	0.0		0.001	False		,,,				2504	0.0					uc002mng.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(2887-2889)CCC>CCT		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	G	,	0,4406		0,0,2203	186.0	169.0	175.0		2937,2889	-11.6	0.0	19	dbSNP_134	175	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	DNMT1	NM_001130823.1,NM_001379.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	979/1633,963/1617	10254621	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10254621G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2889C>T	19.37:g.10254621G>A						DNMT1_uc002mnf.2_5'UTR|DNMT1_uc010xlc.1_Silent_p.P979P|DNMT1_uc002mnh.2_Silent_p.P858P|DNMT1_uc010xld.1_Silent_p.P963P	p.P963P	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		28	3069	-			963					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.2889C>T	CCDS12228.1																																																																																				0.562	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		25	141	0	0	0	0	25	141				
LDLR	3949	broad.mit.edu	37	19	11213447	11213447	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:11213447G>C	ENST00000558518.1	+	3	485	c.298G>C	c.(298-300)Gac>Cac	p.D100H	LDLR_ENST00000455727.2_Missense_Mutation_p.D100H|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000545707.1_Missense_Mutation_p.D100H|LDLR_ENST00000557933.1_Missense_Mutation_p.D100H|LDLR_ENST00000558013.1_Missense_Mutation_p.D100H	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	100	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CAACGGCTCAGACGAGCAAGG	0.592																																					GBM(18;201 575 7820 21545)	uc002mqk.3		NA																	1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.(298-300)GAC>CAC		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						130.0	108.0	116.0					19																	11213447		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11213447G>C	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.298G>C	19.37:g.11213447G>C	ENSP00000454071:p.Asp100His					LDLR_uc010xlk.1_Missense_Mutation_p.D100H|LDLR_uc010xll.1_Intron|LDLR_uc010xlm.1_Intron|LDLR_uc010xln.1_Missense_Mutation_p.D100H|LDLR_uc010xlo.1_Missense_Mutation_p.D100H	p.D100H	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	3	466	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	100			Extracellular (Potential).|LDL-receptor class A 2.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.298G>C	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716417	0.48622	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000455727	D;D	0.99150	-5.49;-5.49	5.65	4.6	0.57074	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000012	D	0.99670	0.9877	H	0.99682	4.7	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.976;0.955	D;D;D;D	0.97110	1.0;1.0;0.984;0.984	D	0.97061	0.9771	10	0.72032	D	0.01	.	15.6693	0.77262	0.0:0.1377:0.8623:0.0	.	100;100;112;100	B4DR00;B4DJZ8;Q59FQ1;P01130	.;.;.;LDLR_HUMAN	H	100	ENSP00000437639:D100H;ENSP00000397829:D100H	ENSP00000252444:D100H	D	+	1	0	LDLR	11074447	1.000000	0.71417	0.035000	0.18076	0.002000	0.02628	7.469000	0.80959	1.355000	0.45865	0.591000	0.81541	GAC		0.592	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			14	85	0	0	0	0	14	85				
MAN2B1	4125	broad.mit.edu	37	19	12776262	12776262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:12776262G>A	ENST00000456935.2	-	3	380	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.R111C|MAN2B1_ENST00000221363.4_Missense_Mutation_p.R114C|WDR83_ENST00000418543.3_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	114					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGAAGCGACGGGTGGGATCT	0.557																																						uc002mub.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(340-342)CGT>TGT		mannosidase, alpha, class 2B, member 1							117.0	115.0	116.0					19																	12776262		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12776262G>A		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.340C>T	19.37:g.12776262G>A	ENSP00000395473:p.Arg114Cys					MAN2B1_uc010dyv.1_Missense_Mutation_p.R114C|WDR83_uc002mue.3_5'Flank|WDR83_uc002muc.2_5'Flank	p.R114C	NM_000528	NP_000519	O00754	MA2B1_HUMAN			3	416	-			114					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.340C>T	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040641	0.75732	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.80304	-1.36;-1.36	5.86	5.86	0.93980	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.49916	D	0.000125	D	0.92502	0.7619	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93925	0.7209	10	0.87932	D	0	-42.4636	12.6044	0.56514	0.0:0.0:0.8344:0.1655	.	114;114	G5E928;O00754	.;MA2B1_HUMAN	C	114;53;114	ENSP00000395473:R114C;ENSP00000221363:R114C	ENSP00000221363:R114C	R	-	1	0	MAN2B1	12637262	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.827000	0.48112	2.775000	0.95449	0.655000	0.94253	CGT		0.557	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			25	93	0	0	0	0	25	93				
SLC1A6	6511	broad.mit.edu	37	19	15061151	15061151	+	Silent	SNP	G	G	T	rs143528996		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:15061151G>T	ENST00000221742.3	-	9	1558	c.1551C>A	c.(1549-1551)gcC>gcA	p.A517A	SLC1A6_ENST00000600144.1_Silent_p.A439A|SLC1A6_ENST00000430939.2_Silent_p.A453A	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	517					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GCTCGATGACGGCCGCTCCAA	0.567																																						uc002naa.1		NA																	0				pancreas(3)|ovary(2)|skin(1)	6						c.(1549-1551)GCC>GCA		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						61.0	57.0	59.0					19																	15061151		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15061151G>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1551C>A	19.37:g.15061151G>T						SLC1A6_uc010dzu.1_Silent_p.A439A|SLC1A6_uc010xod.1_Silent_p.A453A	p.A517A	NM_005071	NP_005062	P48664	EAA4_HUMAN			9	1559	-			517					Q8N753	Silent	SNP	ENST00000221742.3	37	c.1551C>A	CCDS12321.1																																																																																				0.567	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		16	49	1	0	3.46e-05	4.8e-05	16	49				
ZNF430	80264	broad.mit.edu	37	19	21240040	21240040	+	Missense_Mutation	SNP	G	G	C	rs546238189		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:21240040G>C	ENST00000261560.5	+	5	1107	c.926G>C	c.(925-927)aGa>aCa	p.R309T	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	309					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACACATAAAAGAATTCATACT	0.398																																						uc002npj.2		NA																	0				skin(2)	2						c.(925-927)AGA>ACA		zinc finger protein 430							55.0	59.0	58.0					19																	21240040		2201	4297	6498	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240040G>C	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.926G>C	19.37:g.21240040G>C	ENSP00000261560:p.Arg309Thr					ZNF430_uc002npk.2_Missense_Mutation_p.R308T	p.R309T	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN			5	1036	+			309			C2H2-type 4.		Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.926G>C	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	8.154	0.788073	0.16258	.	.	ENSG00000118620	ENST00000261560	T	0.25414	1.8	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39809	0.1092	M	0.79475	2.455	0.27646	N	0.947544	P;D	0.61080	0.911;0.989	B;P	0.58721	0.28;0.844	T	0.18587	-1.0332	9	0.42905	T	0.14	.	4.5517	0.12116	0.2362:0.0:0.7638:0.0	.	308;309	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	T	309	ENSP00000261560:R309T	ENSP00000261560:R309T	R	+	2	0	ZNF430	21031880	0.046000	0.20272	0.853000	0.33588	0.839000	0.47603	2.342000	0.43992	0.452000	0.26830	0.455000	0.32223	AGA		0.398	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		21	75	0	0	0	0	21	75				
ZNF714	148206	broad.mit.edu	37	19	21300910	21300910	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:21300910C>G	ENST00000596143.1	+	5	1765	c.1440C>G	c.(1438-1440)taC>taG	p.Y480*	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AGAAATCTTACAAATGTGAAG	0.393																																						uc002npo.3		NA																	0					0						c.(1441-1443)TAC>TAG		zinc finger protein 714							57.0	64.0	61.0					19																	21300910		2203	4300	6503	SO:0001587	stop_gained	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300910C>G	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1440C>G	19.37:g.21300910C>G	ENSP00000472368:p.Tyr480*					ZNF714_uc002npl.2_Nonsense_Mutation_p.Y326*|ZNF714_uc010ecp.1_Nonsense_Mutation_p.Y432*|ZNF714_uc002npn.2_RNA	p.Y481*	NM_182515	NP_872321	Q96N38	ZN714_HUMAN			6	1803	+			481			C2H2-type 14; degenerate.		Q49AI1|Q86W65|Q8ND40	Nonsense_Mutation	SNP	ENST00000596143.1	37	c.1443C>G	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.337262	0.81911	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	1.05	-1.18	0.09617	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9759	0.14140	0.0:0.2343:0.0:0.7657	.	.	.	.	X	480	.	ENSP00000291770:Y480X	Y	+	3	2	ZNF714	21092750	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.451000	0.02387	-0.384000	0.07845	-0.379000	0.06801	TAC		0.393	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		10	35	0	0	0	0	10	35				
ZNF676	163223	broad.mit.edu	37	19	22363886	22363886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:22363886G>C	ENST00000397121.2	-	3	950	c.633C>G	c.(631-633)atC>atG	p.I211M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	211				KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTAGTAAGGATTGAGAACT	0.353																																						uc002nqs.1		NA																	0					0						c.(631-633)ATC>ATG		zinc finger protein 676							45.0	49.0	47.0					19																	22363886		2077	4220	6297	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363886G>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.633C>G	19.37:g.22363886G>C	ENSP00000380310:p.Ile211Met						p.I211M	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	951	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	211	KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174).		C2H2-type 2.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.633C>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.289	-0.981290	0.02197	.	.	ENSG00000196109	ENST00000397121	T	0.35973	1.28	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29783	0.0744	L	0.28400	0.85	0.09310	N	1	B	0.33857	0.429	P	0.44921	0.464	T	0.39542	-0.9609	9	0.40728	T	0.16	.	4.7852	0.13222	0.2589:0.0:0.7411:0.0	.	211	Q8N7Q3	ZN676_HUMAN	M	211	ENSP00000380310:I211M	ENSP00000380310:I211M	I	-	3	3	ZNF676	22155726	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.824000	0.04438	-1.112000	0.02984	-1.112000	0.02068	ATC		0.353	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		14	78	0	0	0	0	14	78				
ZNF536	9745	broad.mit.edu	37	19	30935952	30935952	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:30935952G>A	ENST00000355537.3	+	2	1630	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	495					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCAATCTCGTGCCGCCGCT	0.657																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1483-1485)GTG>ATG		zinc finger protein 536							33.0	37.0	36.0					19																	30935952		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935952G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1483G>A	19.37:g.30935952G>A	ENSP00000347730:p.Val495Met					ZNF536_uc010edd.1_Missense_Mutation_p.V495M	p.V495M	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1621	+	Esophageal squamous(110;0.0834)		495					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1483G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296341	0.40594	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.53	5.53	0.82687	.	0.176385	0.49916	D	0.000138	T	0.26557	0.0649	L	0.44542	1.39	0.48341	D	0.999637	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	T	0.00236	-1.1891	10	0.39692	T	0.17	-36.9584	19.4573	0.94900	0.0:0.0:1.0:0.0	.	495;495	A7E228;O15090	.;ZN536_HUMAN	M	495	ENSP00000347730:V495M	ENSP00000347730:V495M	V	+	1	0	ZNF536	35627792	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.546000	0.67243	2.582000	0.87167	0.655000	0.94253	GTG		0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		18	66	0	0	0	0	18	66				
FBXO46	23403	broad.mit.edu	37	19	46215504	46215504	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:46215504T>C	ENST00000317683.3	-	2	1383	c.1250A>G	c.(1249-1251)gAc>gGc	p.D417G		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	417										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGGGGGCCCGTCCGGCCCGCG	0.726																																						uc002pcy.2		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(1249-1251)GAC>GGC		F-box protein 46							10.0	11.0	11.0					19																	46215504		1614	3653	5267	SO:0001583	missense	23403						protein binding	g.chr19:46215504T>C	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1250A>G	19.37:g.46215504T>C	ENSP00000410007:p.Asp417Gly					FBXO46_uc002pcz.2_Missense_Mutation_p.D417G	p.D417G	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	1375	-		Ovarian(192;0.179)|all_neural(266;0.224)	417						Missense_Mutation	SNP	ENST00000317683.3	37	c.1250A>G	CCDS46116.1	.	.	.	.	.	.	.	.	.	.	T	2.061	-0.415313	0.04766	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.18	3.09	0.35607	.	.	.	.	.	T	0.24392	0.0591	N	0.14661	0.345	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.11227	-1.0596	8	0.25751	T	0.34	-5.6269	9.0577	0.36416	0.0:0.0:0.1841:0.8159	.	417	Q6PJ61	FBX46_HUMAN	G	417	.	ENSP00000410007:D417G	D	-	2	0	FBXO46	50907344	0.038000	0.19896	0.107000	0.21349	0.004000	0.04260	1.676000	0.37565	1.763000	0.52060	0.460000	0.39030	GAC		0.726	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		10	22	0	0	0	0	10	22				
IL4I1	259307	broad.mit.edu	37	19	50393181	50393181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:50393181C>T	ENST00000391826.2	-	8	1592	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T	MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000341114.3_Missense_Mutation_p.A506T|IL4I1_ENST00000595948.1_Missense_Mutation_p.A506T	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	484						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	TGCGGGTAGGCGGTGTGCTCG	0.667											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pqt.1		NA																	0				lung(1)|ovary(1)|prostate(1)	3						c.(1450-1452)GCC>ACC		interleukin 4 induced 1 isoform 1 precursor							26.0	15.0	19.0					19																	50393181		2197	4293	6490	SO:0001583	missense	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393181C>T	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1450G>A	19.37:g.50393181C>T	ENSP00000375702:p.Ala484Thr		OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	969	IL4I1_uc002pqv.1_Missense_Mutation_p.A493T|IL4I1_uc010eno.1_Missense_Mutation_p.A492T|IL4I1_uc002pqw.1_Missense_Mutation_p.A492T|IL4I1_uc002pqu.1_Missense_Mutation_p.A506T	p.A484T	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	8	1528	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	484					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	c.1450G>A	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979970	0.92982	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.92595	-3.07;-3.07	5.53	2.16	0.27623	Amine oxidase (1);	0.101041	0.64402	D	0.000002	D	0.86347	0.5911	L	0.47078	1.49	0.39427	D	0.967017	P;P;P	0.51351	0.931;0.944;0.944	B;B;B	0.43274	0.291;0.414;0.414	T	0.80181	-0.1489	10	0.20046	T	0.44	-21.9778	6.3488	0.21365	0.3257:0.5886:0.0:0.0856	.	506;506;484	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	T	506;484	ENSP00000342557:A506T;ENSP00000375702:A484T	ENSP00000342557:A506T	A	-	1	0	IL4I1	55084993	0.998000	0.40836	0.548000	0.28192	0.764000	0.43329	4.046000	0.57376	0.270000	0.21984	0.561000	0.74099	GCC		0.667	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			5	18	0	0	0	0	5	18				
NAPSA	9476	broad.mit.edu	37	19	50862816	50862816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:50862816C>T	ENST00000253719.2	-	7	1088	c.880G>A	c.(880-882)Gag>Aag	p.E294K	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	294					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGGATCTCCTCAGTGGGTCCT	0.647																																						uc002prx.2		NA																	0					0						c.(880-882)GAG>AAG		napsin A preproprotein							63.0	62.0	62.0					19																	50862816		2203	4300	6503	SO:0001583	missense	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862816C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.880G>A	19.37:g.50862816C>T	ENSP00000253719:p.Glu294Lys					NR1H2_uc002prv.3_Intron	p.E294K	NM_004851	NP_004842	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	7	933	-		all_neural(266;0.057)	294					Q8WWD9	Missense_Mutation	SNP	ENST00000253719.2	37	c.880G>A	CCDS12794.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745413	0.49151	.	.	ENSG00000131400	ENST00000253719	T	0.30448	1.53	3.76	1.38	0.22167	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.390783	0.28436	N	0.015355	T	0.36799	0.0980	L	0.45422	1.42	0.37407	D	0.913097	D	0.71674	0.998	D	0.64506	0.926	T	0.28808	-1.0032	10	0.39692	T	0.17	.	6.249	0.20835	0.0:0.6856:0.195:0.1194	.	294	O96009	NAPSA_HUMAN	K	294	ENSP00000253719:E294K	ENSP00000253719:E294K	E	-	1	0	NAPSA	55554628	0.002000	0.14202	1.000000	0.80357	0.436000	0.31835	1.557000	0.36299	1.812000	0.52913	0.313000	0.20887	GAG		0.647	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		14	51	0	0	0	0	14	51				
NLRP12	91662	broad.mit.edu	37	19	54318203	54318203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:54318203G>A	ENST00000324134.6	-	2	497	c.329C>T	c.(328-330)tCa>tTa	p.S110L	NLRP12_ENST00000535162.1_Missense_Mutation_p.S110L|NLRP12_ENST00000391772.1_Missense_Mutation_p.S110L|NLRP12_ENST00000391775.3_Missense_Mutation_p.S110L|NLRP12_ENST00000354278.3_Missense_Mutation_p.S110L|NLRP12_ENST00000351894.4_Missense_Mutation_p.S110L|NLRP12_ENST00000391773.1_Missense_Mutation_p.S110L|NLRP12_ENST00000345770.5_Missense_Mutation_p.S110L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	110					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCATGTTGACTGGTTCCC	0.517																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(328-330)TCA>TTA		NLR family, pyrin domain containing 12 isoform							133.0	120.0	125.0					19																	54318203		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54318203G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.329C>T	19.37:g.54318203G>A	ENSP00000319377:p.Ser110Leu					NLRP12_uc002qci.3_Missense_Mutation_p.S110L|NLRP12_uc002qcj.3_Missense_Mutation_p.S110L|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.S110L	p.S110L	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	2	549	-	Ovarian(34;0.19)		110					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.329C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	3.281	-0.147052	0.06627	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.74737	-0.81;-0.83;-0.86;-0.87;-0.85;-0.81;-0.85	3.62	1.5	0.22942	.	1.119910	0.07172	N	0.852570	T	0.59662	0.2210	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.17852	0.0;0.004;0.001;0.024	B;B;B;B	0.10450	0.001;0.002;0.003;0.005	T	0.42749	-0.9433	10	0.24483	T	0.36	.	5.4127	0.16356	0.2564:0.0:0.7436:0.0	.	110;110;110;110	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	L	110	ENSP00000319377:S110L;ENSP00000438030:S110L;ENSP00000340473:S110L;ENSP00000346231:S110L;ENSP00000375655:S110L;ENSP00000375653:S110L;ENSP00000375652:S110L	ENSP00000319377:S110L	S	-	2	0	NLRP12	59010015	0.194000	0.23325	0.022000	0.16811	0.107000	0.19398	0.962000	0.29280	0.511000	0.28236	0.655000	0.94253	TCA		0.517	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		26	78	0	0	0	0	26	78				
ZSCAN5B	342933	broad.mit.edu	37	19	56701579	56701579	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:56701579G>T	ENST00000586855.2	-	5	1418	c.1105C>A	c.(1105-1107)Cag>Aag	p.Q369K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.Q369K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	369					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATGCTTAGCTGGGAAAAATAC	0.547																																						uc010ygh.1		NA																	0				ovary(1)|skin(1)	2						c.(1105-1107)CAG>AAG		zinc finger and SCAN domain containing 5B							71.0	74.0	73.0					19																	56701579		2183	4281	6464	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701579G>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1105C>A	19.37:g.56701579G>T	ENSP00000466072:p.Gln369Lys						p.Q369K	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1105	-			369			C2H2-type 1.			Missense_Mutation	SNP	ENST00000586855.2	37	c.1105C>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	1.986	-0.433077	0.04669	.	.	ENSG00000197213	ENST00000358992	T	0.35605	1.3	2.61	1.47	0.22746	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17704	0.0425	N	0.11341	0.13	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27157	-1.0082	9	0.15952	T	0.53	.	9.0898	0.36603	0.0:0.229:0.771:0.0	.	369	A6NJL1	ZSA5B_HUMAN	K	369	ENSP00000351883:Q369K	ENSP00000351883:Q369K	Q	-	1	0	ZSCAN5B	61393391	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.770000	0.04705	0.595000	0.29777	0.306000	0.20318	CAG		0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		19	54	1	0	6.5e-13	9.72e-13	19	54				
AURKC	6795	broad.mit.edu	37	19	57746747	57746747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:57746747C>T	ENST00000302804.7	+	7	1078	c.892C>T	c.(892-894)Cga>Tga	p.R298*	AURKC_ENST00000598785.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.R279*|AURKC_ENST00000448930.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.R295*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	298					attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GGCCCACTCCCGAAGGGTGCT	0.622																																						uc002qoe.2		NA																	0				lung(4)|ovary(2)	6						c.(892-894)CGA>TGA		aurora kinase C isoform 1							77.0	78.0	78.0					19																	57746747		2203	4300	6503	SO:0001587	stop_gained	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57746747C>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.892C>T	19.37:g.57746747C>T	ENSP00000302898:p.Arg298*					AURKC_uc002qoc.2_Nonsense_Mutation_p.R279*|AURKC_uc002qod.2_Nonsense_Mutation_p.R264*|AURKC_uc010etv.2_Nonsense_Mutation_p.R295*	p.R298*	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	7	1081	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	298					O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Nonsense_Mutation	SNP	ENST00000302804.7	37	c.892C>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730102	0.89390	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	.	.	.	3.77	2.72	0.32119	.	0.369920	0.30850	N	0.008750	.	.	.	.	.	.	0.49389	D	0.999785	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.922	10.9429	0.47283	0.1884:0.8116:0.0:0.0	.	.	.	.	X	279;264;298	.	ENSP00000302898:R298X	R	+	1	2	AURKC	62438559	0.221000	0.23642	0.640000	0.29408	0.611000	0.37282	2.345000	0.44018	1.156000	0.42514	0.655000	0.94253	CGA		0.622	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		21	75	0	0	0	0	21	75				
C2orf50	130813	broad.mit.edu	37	2	11284117	11284117	+	Silent	SNP	G	G	A	rs368325288		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:11284117G>A	ENST00000381585.3	+	3	651	c.369G>A	c.(367-369)acG>acA	p.T123T	C2orf50_ENST00000405022.3_Silent_p.T123T			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	123										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CCAGTTCCACGAACCAGGTTG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20302	0.0		0.0	False		,,,				2504	0.0					uc010yji.1		NA																	0					0						c.(367-369)ACG>ACA		hypothetical protein LOC130813		G		0,4406		0,0,2203	82.0	71.0	75.0		369	-5.5	0.0	2		75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C2orf50	NM_182500.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		123/163	11284117	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	130813							g.chr2:11284117G>A	AK057872	CCDS1678.1	2p25.1	2012-08-02			ENSG00000150873	ENSG00000150873			26324	protein-coding gene	gene with protein product						12477932	Standard	NM_182500		Approved	FLJ25143	uc010yjj.1	Q96LR7	OTTHUMG00000119057	ENST00000381585.3:c.369G>A	2.37:g.11284117G>A						C2orf50_uc010yjj.1_Silent_p.T123T	p.T123T	NM_182500	NP_872306	Q96LR7	CB050_HUMAN		Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)	3	651	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		123					A8K9W3|D6W503	Silent	SNP	ENST00000381585.3	37	c.369G>A	CCDS1678.1																																																																																				0.582	C2orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239268.1	NM_182500		10	61	0	0	0	0	10	61				
NBAS	51594	broad.mit.edu	37	2	15629092	15629092	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:15629092G>A	ENST00000281513.5	-	12	1034	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	NBAS_ENST00000441750.1_Missense_Mutation_p.H337Y	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	337					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTGAGAAGTGAATGGCTGCC	0.448																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(1009-1011)CAC>TAC		neuroblastoma-amplified protein							118.0	104.0	109.0					2																	15629092		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15629092G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1009C>T	2.37:g.15629092G>A	ENSP00000281513:p.His337Tyr					NBAS_uc002rcd.1_RNA	p.H337Y	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			12	1035	-			337			WD 2.		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.1009C>T	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000880	0.74818	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.54479	0.57;0.57	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.76328	2.33	0.32554	N	0.531938	D	0.76494	0.999	D	0.80764	0.994	T	0.78922	-0.2013	10	0.87932	D	0	.	19.9157	0.97061	0.0:0.0:1.0:0.0	.	337	A2RRP1	NBAS_HUMAN	Y	337	ENSP00000413201:H337Y;ENSP00000281513:H337Y	ENSP00000281513:H337Y	H	-	1	0	NBAS	15546543	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.808000	0.86044	2.813000	0.96785	0.561000	0.74099	CAC		0.448	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		14	62	0	0	0	0	14	62				
TTC32	130502	broad.mit.edu	37	2	20101573	20101573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:20101573C>T	ENST00000333610.3	-	1	174	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	TTC32_ENST00000402414.1_Missense_Mutation_p.A15T|RP11-79O8.1_ENST00000607190.1_lincRNA	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	15										kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCCTGGGCGAGTGTTAGG	0.597																																						uc002rdg.2		NA																	0					0						c.(43-45)GCC>ACC		tetratricopeptide repeat domain 32							171.0	155.0	160.0					2																	20101573		2203	4300	6503	SO:0001583	missense	130502						identical protein binding	g.chr2:20101573C>T	BC057850	CCDS33151.1	2p24.1	2013-01-10			ENSG00000183891	ENSG00000183891		"""Tetratricopeptide (TTC) repeat domain containing"""	32954	protein-coding gene	gene with protein product							Standard	NM_001008237		Approved		uc002rdg.3	Q5I0X7	OTTHUMG00000151776	ENST00000333610.3:c.43G>A	2.37:g.20101573C>T	ENSP00000333018:p.Ala15Thr						p.A15T	NM_001008237	NP_001008238	Q5I0X7	TTC32_HUMAN			1	175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		15			TPR 1.			Missense_Mutation	SNP	ENST00000333610.3	37	c.43G>A	CCDS33151.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099907	0.56183	.	.	ENSG00000183891	ENST00000402414;ENST00000333610	T;T	0.79653	-0.62;-1.29	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88418	0.6431	M	0.70275	2.135	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.89036	0.3445	10	0.72032	D	0.01	-33.986	14.0815	0.64925	0.0:1.0:0.0:0.0	.	15	Q5I0X7	TTC32_HUMAN	T	15	ENSP00000385708:A15T;ENSP00000333018:A15T	ENSP00000333018:A15T	A	-	1	0	TTC32	19965054	0.982000	0.34865	0.961000	0.40146	0.156000	0.22039	3.316000	0.51960	2.694000	0.91930	0.655000	0.94253	GCC		0.597	TTC32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323868.1	NM_001008237		10	82	0	0	0	0	10	82				
APOB	338	broad.mit.edu	37	2	21230369	21230369	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:21230369T>C	ENST00000233242.1	-	26	9498	c.9371A>G	c.(9370-9372)gAt>gGt	p.D3124G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3124					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)			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)					GTTTAAGAAATCCAGATTTGC	0.378																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9370-9372)GAT>GGT		apolipoprotein B precursor	Atorvastatin(DB01076)						112.0	114.0	114.0					2																	21230369		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.chr2:21230369T>C	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.9371A>G	2.37:g.21230369T>C	ENSP00000233242:p.Asp3124Gly						p.D3124G	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9499	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3124					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9371A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.102931	0.56183	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.39997	1.05	5.87	5.87	0.94306	.	0.092688	0.46442	D	0.000300	T	0.65471	0.2694	M	0.88842	2.985	0.80722	D	1	P	0.51147	0.942	P	0.54924	0.764	T	0.73238	-0.4046	10	0.87932	D	0	.	16.2813	0.82687	0.0:0.0:0.0:1.0	.	3124	P04114	APOB_HUMAN	G	3124	ENSP00000233242:D3124G	ENSP00000233242:D3124G	D	-	2	0	APOB	21083874	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.301000	0.72782	2.244000	0.73946	0.533000	0.62120	GAT		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	84	0	0	0	0	19	84				
OTOF	9381	broad.mit.edu	37	2	26688665	26688665	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:26688665C>A	ENST00000272371.2	-	38	4800	c.4674G>T	c.(4672-4674)acG>acT	p.T1558T	OTOF_ENST00000339598.3_Silent_p.T791T|OTOF_ENST00000338581.6_Silent_p.T791T|OTOF_ENST00000402415.3_Silent_p.T868T|OTOF_ENST00000403946.3_Silent_p.T1558T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1558	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACAGCCACCGTCAGCATGG	0.572																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(4672-4674)ACG>ACT		otoferlin isoform a							117.0	99.0	105.0					2																	26688665		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26688665C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4674G>T	2.37:g.26688665C>A						OTOF_uc010yla.1_Silent_p.T288T|OTOF_uc002rhh.2_Silent_p.T791T|OTOF_uc002rhi.2_Silent_p.T868T|OTOF_uc002rhj.2_Silent_p.T791T	p.T1558T	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			38	4801	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1558			Cytoplasmic (Potential).|C2 4.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.4674G>T	CCDS1725.1																																																																																				0.572	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			11	51	1	0	1.09e-07	1.56e-07	11	51				
PRR30	339779	broad.mit.edu	37	2	27360067	27360067	+	Silent	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:27360067A>G	ENST00000335524.3	-	3	1656	c.1131T>C	c.(1129-1131)ccT>ccC	p.P377P	PREB_ENST00000406567.3_5'Flank|PREB_ENST00000260643.2_5'Flank|PREB_ENST00000416802.1_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		377										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGAGGTGGAGGCCCGGAGA	0.607																																						uc002rjb.2		NA																	0					0						c.(1129-1131)CCT>CCC		hypothetical protein LOC339779							108.0	112.0	111.0					2																	27360067		2203	4300	6503	SO:0001819	synonymous_variant	339779							g.chr2:27360067A>G																												ENST00000335524.3:c.1131T>C	2.37:g.27360067A>G						PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	p.P377P	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1711	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		377					Q86UE2	Silent	SNP	ENST00000335524.3	37	c.1131T>C	CCDS1739.1																																																																																				0.607	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			3	111	0	0	0	0	3	111				
RBKS	64080	broad.mit.edu	37	2	28050554	28050554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:28050554C>A	ENST00000302188.3	-	7	1427	c.675G>T	c.(673-675)ttG>ttT	p.L225F	RBKS_ENST00000444339.2_Missense_Mutation_p.L225F	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	225					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCCCCTTTTCAAGAGCACTA	0.512																																						uc002rlo.1		NA																	0				ovary(1)|skin(1)	2						c.(673-675)TTG>TTT		ribokinase							91.0	82.0	85.0					2																	28050554		2203	4300	6503	SO:0001583	missense	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28050554C>A	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.675G>T	2.37:g.28050554C>A	ENSP00000306817:p.Leu225Phe					RBKS_uc010ezi.1_Missense_Mutation_p.L158F|RBKS_uc010ymg.1_Missense_Mutation_p.L225F	p.L225F	NM_022128	NP_071411	Q9H477	RBSK_HUMAN			7	686	-	Acute lymphoblastic leukemia(172;0.155)		225					A9UK04|B4DV96	Missense_Mutation	SNP	ENST00000302188.3	37	c.675G>T	CCDS1762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.60|16.60	3.169011|3.169011	0.57584|0.57584	.|.	.|.	ENSG00000171174|ENSG00000171174	ENST00000458185|ENST00000302188;ENST00000444339	.|T;T	.|0.77877	.|-1.13;-1.13	5.63|5.63	1.02|1.02	0.19986|0.19986	.|Carbohydrate/purine kinase (1);	.|0.786967	.|0.12215	.|N	.|0.488917	.|T	.|0.80874	.|0.4707	M|M	0.77103|0.77103	2.36|2.36	0.23731|0.23731	N|N	0.996995|0.996995	.|D;P	.|0.63880	.|0.993;0.607	.|P;B	.|0.61328	.|0.887;0.186	.|T	.|0.67845	.|-0.5565	.|10	.|0.10902	.|T	.|0.67	-0.0058|-0.0058	3.8136|3.8136	0.08806|0.08806	0.1698:0.4394:0.0:0.3909|0.1698:0.4394:0.0:0.3909	.|.	.|225;225	.|B4DV96;Q9H477	.|.;RBSK_HUMAN	X|F	86|225	.|ENSP00000306817:L225F;ENSP00000413232:L225F	.|ENSP00000306817:L225F	E|L	-|-	1|3	0|2	RBKS|RBKS	27904058|27904058	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.652000|0.652000	0.38707|0.38707	0.260000|0.260000	0.18424|0.18424	0.719000|0.719000	0.32188|0.32188	0.491000|0.491000	0.48974|0.48974	GAA|TTG		0.512	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128		17	60	1	0	2.23e-06	3.17e-06	17	60				
EPCAM	4072	broad.mit.edu	37	2	47604194	47604194	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:47604194C>A	ENST00000263735.4	+	5	891	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	MIR559_ENST00000385188.1_RNA|EPCAM_ENST00000405271.1_Missense_Mutation_p.P206Q	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	178					negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						CAACTGGATCCAAAATTTATC	0.333																																						uc002rvx.2		NA																	3	Whole gene deletion(2)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)	skin(1)	1						c.(532-534)CCA>CAA		epithelial cell adhesion molecule precursor							96.0	101.0	99.0					2																	47604194		2203	4300	6503	SO:0001583	missense	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47604194C>A	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.533C>A	2.37:g.47604194C>A	ENSP00000263735:p.Pro178Gln					EPCAM_uc002rvw.2_Missense_Mutation_p.P206Q|MIR559_hsa-mir-559|MI0003565_5'Flank	p.P178Q	NM_002354	NP_002345	P16422	EPCAM_HUMAN			5	891	+			178			Extracellular (Potential).		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.533C>A	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	C	0.934	-0.711894	0.03206	.	.	ENSG00000119888	ENST00000405271;ENST00000263735	T;T	0.71341	-0.56;-0.54	4.98	0.883	0.19177	.	0.680666	0.15865	N	0.240823	T	0.56761	0.2007	L	0.39898	1.24	0.09310	N	1	B;B	0.14805	0.006;0.011	B;B	0.13407	0.002;0.009	T	0.45366	-0.9266	10	0.36615	T	0.2	-0.1536	7.5918	0.28025	0.2796:0.3897:0.3307:0.0	.	178;206	P16422;B5MCA4	EPCAM_HUMAN;.	Q	206;178	ENSP00000385476:P206Q;ENSP00000263735:P178Q	ENSP00000263735:P178Q	P	+	2	0	EPCAM	47457698	0.000000	0.05858	0.865000	0.33974	0.002000	0.02628	-1.517000	0.02248	0.263000	0.21812	-0.156000	0.13503	CCA		0.333	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			12	53	1	0	1.62e-10	2.39e-10	12	53				
GPR75-ASB3	100302652	broad.mit.edu	37	2	53927562	53927562	+	Missense_Mutation	SNP	G	G	A	rs201190425	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:53927562G>A	ENST00000263634.3	-	8	1218	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.R289C|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.R400C|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.R289C|ASB3_ENST00000406625.2_Missense_Mutation_p.R397C|GPR75-ASB3_ENST00000482829.1_5'UTR	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough																		AAAAAGTAGCGAAATATCGAA	0.353													G|||	5	0.000998403	0.0	0.0	5008	,	,		19360	0.005		0.0	False		,,,				2504	0.0					uc002rxg.1		NA																	0				ovary(1)|kidney(1)	2						c.(1084-1086)CGC>TGC		ankyrin repeat and SOCS box-containing protein 3							113.0	108.0	110.0					2																	53927562		2203	4300	6503	SO:0001583	missense	51130				intracellular signal transduction			g.chr2:53927562G>A		CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.1084C>T	2.37:g.53927562G>A	ENSP00000263634:p.Arg362Cys					ASB3_uc002rxh.1_Missense_Mutation_p.R289C|ASB3_uc002rxi.3_Missense_Mutation_p.R400C|ASB3_uc002rxf.1_RNA	p.R362C	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		8	1219	-			362			ANK 11.			Missense_Mutation	SNP	ENST00000263634.3	37	c.1084C>T	CCDS1846.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	G|G	13.80|13.80	2.346261|2.346261	0.41599|0.41599	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846;ENST00000446049|ENST00000406053	T;T;T;T;T|.	0.69926|.	-0.39;-0.33;-0.44;-0.44;-0.36|.	5.56|5.56	3.74|3.74	0.42951|0.42951	Ankyrin repeat-containing domain (2);|.	0.141721|.	0.48767|.	N|.	0.000165|.	T|T	0.50786|0.50786	0.1636|0.1636	L|L	0.45228|0.45228	1.405|1.405	0.29344|.	N|.	0.865791|.	B;B|.	0.15141|.	0.012;0.012|.	B;B|.	0.09377|.	0.003;0.004|.	T|T	0.59005|0.59005	-0.7535|-0.7535	9|4	0.46703|.	T|.	0.11|.	.|.	10.5459|10.5459	0.45060|0.45060	0.1612:0.0:0.8388:0.0|0.1612:0.0:0.8388:0.0	.|.	397;362|.	Q2TAI4;Q9Y575|.	.;ASB3_HUMAN|.	C|L	362;397;289;289;400;281|354	ENSP00000263634:R362C;ENSP00000385085:R397C;ENSP00000384728:R289C;ENSP00000378206:R289C;ENSP00000313756:R400C|.	ENSP00000263634:R362C|.	R|S	-|-	1|2	0|0	ASB3|ASB3	53781066|53781066	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	1.969000|1.969000	0.40510|0.40510	0.690000|0.690000	0.31570|0.31570	0.563000|0.563000	0.77884|0.77884	CGC|TCG		0.353	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			7	72	0	0	0	0	7	72				
BCL11A	53335	broad.mit.edu	37	2	60687704	60687704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:60687704C>G	ENST00000335712.6	-	4	2570	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H	BCL11A_ENST00000538214.1_Missense_Mutation_p.Q747H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.Q747H|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	781					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCTTGCTACTCTGGGCACAGG	0.493			T	IGH@	B-CLL																																	uc002sae.1		NA		Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2341-2343)CAG>CAC		B-cell CLL/lymphoma 11A isoform 1							128.0	126.0	127.0					2																	60687704		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687704C>G	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2343G>C	2.37:g.60687704C>G	ENSP00000338774:p.Gln781His					BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.Q747H|BCL11A_uc002sad.1_Missense_Mutation_p.Q629H|BCL11A_uc002saf.1_Missense_Mutation_p.Q747H	p.Q781H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2571	-			781			C2H2-type 5.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.2343G>C	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623797	0.28889	.	.	ENSG00000119866	ENST00000538214;ENST00000335712;ENST00000358510	T;T;T	0.05513	3.43;3.43;3.43	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.229491	0.37809	N	0.001926	T	0.21267	0.0512	L	0.42008	1.315	0.80722	D	1	D;D;D	0.89917	0.999;0.994;1.0	D;D;D	0.87578	0.998;0.986;0.997	T	0.00028	-1.2301	10	0.49607	T	0.09	-3.032	20.5666	0.99351	0.0:1.0:0.0:0.0	.	747;747;781	F5H2Y4;Q9H165-6;Q9H165	.;.;BC11A_HUMAN	H	747;781;747	ENSP00000438303:Q747H;ENSP00000338774:Q781H;ENSP00000351307:Q747H	ENSP00000338774:Q781H	Q	-	3	2	BCL11A	60541208	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.891000	0.63185	2.854000	0.98071	0.655000	0.94253	CAG		0.493	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		22	71	0	0	0	0	22	71				
USP34	9736	broad.mit.edu	37	2	61483552	61483552	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:61483552G>C	ENST00000398571.2	-	48	6264	c.6188C>G	c.(6187-6189)tCt>tGt	p.S2063C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2063	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCCACAATGAGAACAAGTATA	0.313																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(6187-6189)TCT>TGT		ubiquitin specific protease 34							95.0	89.0	91.0					2																	61483552		1824	4086	5910	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61483552G>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6188C>G	2.37:g.61483552G>C	ENSP00000381577:p.Ser2063Cys					USP34_uc002sbf.2_Missense_Mutation_p.S213C	p.S2063C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		48	6210	-			2063					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.6188C>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789867	0.90367	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.06687	3.27;3.27	5.66	5.66	0.87406	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	M	0.86805	2.84	0.80722	D	1	D	0.65815	0.995	D	0.80764	0.994	T	0.27739	-1.0065	10	0.87932	D	0	.	19.7461	0.96252	0.0:0.0:1.0:0.0	.	2063	Q70CQ2	UBP34_HUMAN	C	1911;1911;2063;341	ENSP00000381577:S2063C;ENSP00000410559:S341C	ENSP00000263989:S1911C	S	-	2	0	USP34	61337056	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.845000	0.99498	2.645000	0.89757	0.650000	0.86243	TCT		0.313	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			9	44	0	0	0	0	9	44				
CLEC4F	165530	broad.mit.edu	37	2	71043722	71043722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:71043722A>G	ENST00000272367.2	-	4	867	c.791T>C	c.(790-792)gTc>gCc	p.V264A	CLEC4F_ENST00000426626.1_Missense_Mutation_p.V264A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	264					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAAGTCATTGACACTATCTAG	0.428																																					Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	0				ovary(5)	5						c.(790-792)GTC>GCC		C-type lectin, superfamily member 13							78.0	77.0	78.0					2																	71043722		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71043722A>G	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.791T>C	2.37:g.71043722A>G	ENSP00000272367:p.Val264Ala					CLEC4F_uc010yqv.1_Missense_Mutation_p.V264A	p.V264A	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			4	868	-			264			Extracellular (Potential).		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.791T>C	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.947745	0.34377	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.53857	0.6;0.6	4.04	1.65	0.23941	.	0.272611	0.19467	N	0.113546	T	0.31544	0.0800	N	0.20401	0.57	0.09310	N	1	P;P	0.38767	0.646;0.646	B;B	0.36464	0.162;0.225	T	0.13495	-1.0507	10	0.52906	T	0.07	.	5.1629	0.15070	0.7413:0.0:0.2587:0.0	.	264;264	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	A	264	ENSP00000272367:V264A;ENSP00000390581:V264A	ENSP00000272367:V264A	V	-	2	0	CLEC4F	70897230	0.000000	0.05858	0.000000	0.03702	0.715000	0.41141	0.223000	0.17719	0.245000	0.21373	0.260000	0.18958	GTC		0.428	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		29	85	0	0	0	0	29	85				
TSGA10	80705	broad.mit.edu	37	2	99695250	99695250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:99695250G>C	ENST00000393483.3	-	12	1598	c.754C>G	c.(754-756)Cag>Gag	p.Q252E	TSGA10_ENST00000410001.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000355053.4_Missense_Mutation_p.Q252E|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000542655.1_Missense_Mutation_p.Q252E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	252					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTTCTCGCTGTGCAATATTT	0.328																																						uc002szg.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(754-756)CAG>GAG		testis specific, 10							90.0	87.0	88.0					2																	99695250		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99695250G>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.754C>G	2.37:g.99695250G>C	ENSP00000377123:p.Gln252Glu					TSGA10_uc002szh.3_Missense_Mutation_p.Q252E|TSGA10_uc002szi.3_Missense_Mutation_p.Q252E|TSGA10_uc010fin.1_Missense_Mutation_p.Q252E|TSGA10_uc010yvn.1_Missense_Mutation_p.Q252E	p.Q252E	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			10	1382	-			252					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.754C>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448545	0.43429	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.15	5.15	0.70609	.	0.107097	0.41500	D	0.000861	T	0.38585	0.1046	L	0.46157	1.445	0.33627	D	0.605565	B;B	0.31817	0.187;0.341	B;B	0.22601	0.039;0.04	T	0.51655	-0.8678	10	0.30854	T	0.27	-5.8335	13.9861	0.64337	0.0:0.0:1.0:0.0	.	252;252	B7Z925;Q9BZW7	.;TSG10_HUMAN	E	252	ENSP00000377123:Q252E;ENSP00000386956:Q252E;ENSP00000347161:Q252E;ENSP00000444419:Q252E;ENSP00000386508:Q252E;ENSP00000377122:Q252E;ENSP00000445623:Q252E	ENSP00000347161:Q252E	Q	-	1	0	TSGA10	99061682	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	4.029000	0.57253	2.673000	0.90976	0.467000	0.42956	CAG		0.328	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		4	32	0	0	0	0	4	32				
IL18R1	8809	broad.mit.edu	37	2	102984411	102984411	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:102984411C>T	ENST00000409599.1	+	4	541	c.185C>T	c.(184-186)tCa>tTa	p.S62L	IL18R1_ENST00000233957.1_Missense_Mutation_p.S62L|IL18R1_ENST00000334376.3_Missense_Mutation_p.S62L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	62	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.S62L(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGCAGTGGATCACAGGAACAT	0.443																																						uc002tbw.3		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(2)|pancreas(1)	3						c.(184-186)TCA>TTA		interleukin 18 receptor 1 precursor							168.0	157.0	160.0					2																	102984411		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102984411C>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.185C>T	2.37:g.102984411C>T	ENSP00000387211:p.Ser62Leu					IL18R1_uc010ywb.1_Missense_Mutation_p.S62L|IL18R1_uc010ywc.1_Missense_Mutation_p.S62L|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.S62L	p.S62L	NM_003855	NP_003846	Q13478	IL18R_HUMAN			3	335	+			62			Ig-like C2-type 1.|Extracellular (Potential).		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.185C>T	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483834	0.26598	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.48	3.6	0.41247	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.026820	0.02057	N	0.050448	T	0.43853	0.1266	L	0.59436	1.845	0.09310	N	1	B;B;B	0.24317	0.013;0.101;0.013	B;B;B	0.23419	0.007;0.046;0.007	T	0.25882	-1.0119	10	0.33141	T	0.24	.	8.4168	0.32676	0.0:0.8926:0.0:0.1074	.	62;62;62	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	L	62	ENSP00000386663:S62L;ENSP00000387211:S62L;ENSP00000233957:S62L;ENSP00000334030:S62L	ENSP00000233957:S62L	S	+	2	0	IL18R1	102350843	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.275000	0.18698	1.227000	0.43598	0.563000	0.77884	TCA		0.443	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		15	45	0	0	0	0	15	45				
HS6ST1	9394	broad.mit.edu	37	2	129025882	129025882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:129025882G>A	ENST00000259241.6	-	2	1103	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	364					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)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCTCCAGCTGCCGCTTGTAC	0.672																																						uc002tpt.3		NA																	0				pancreas(1)	1						c.(1090-1092)CAG>TAG		heparan sulfate 6-O-sulfotransferase 1							49.0	58.0	55.0					2																	129025882		2136	4271	6407	SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129025882G>A	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.1090C>T	2.37:g.129025882G>A	ENSP00000259241:p.Gln364*						p.Q364*	NM_004807	NP_004798	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	1124	-	Colorectal(110;0.1)		364			Potential.|Lumenal (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.1090C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	32	5.165272	0.94768	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.3067	17.1367	0.86742	0.0:0.0:1.0:0.0	.	.	.	.	X	364	.	.	Q	-	1	0	HS6ST1	128742352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.399000	0.79935	2.099000	0.63709	0.462000	0.41574	CAG		0.672	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		20	50	0	0	0	0	20	50				
MGAT5	4249	broad.mit.edu	37	2	135093845	135093845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:135093845G>A	ENST00000409645.1	+	6	883	c.631G>A	c.(631-633)Gat>Aat	p.D211N	MGAT5_ENST00000281923.2_Missense_Mutation_p.D211N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	211					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CGAAGAAGCTGATCATAATTC	0.363																																						uc002ttv.1		NA																	0				ovary(2)|skin(1)	3						c.(631-633)GAT>AAT		N-acetylglucosaminyltransferase V							120.0	117.0	118.0					2																	135093845		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135093845G>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.631G>A	2.37:g.135093845G>A	ENSP00000386377:p.Asp211Asn						p.D211N	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	5	776	+			211			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.631G>A	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495777	0.64186	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	L	0.47716	1.5	0.80722	D	1	D	0.67145	0.996	D	0.79784	0.993	T	0.64884	-0.6302	9	0.15499	T	0.54	-25.1162	20.2019	0.98263	0.0:0.0:1.0:0.0	.	211	Q09328	MGT5A_HUMAN	N	211	.	ENSP00000281923:D211N	D	+	1	0	MGAT5	134810315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.640000	0.91028	2.776000	0.95493	0.655000	0.94253	GAT		0.363	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		11	20	0	0	0	0	11	20				
KIF5C	3800	broad.mit.edu	37	2	149793866	149793866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:149793866C>G	ENST00000435030.1	+	4	728	c.360C>G	c.(358-360)atC>atG	p.I120M	KIF5C_ENST00000414838.2_Missense_Mutation_p.I25M			O60282	KIF5C_HUMAN	kinesin family member 5C	120	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TTGACCATATCTACTCCATGG	0.483																																						uc010zbu.1		NA																	0				skin(1)	1						c.(358-360)ATC>ATG		kinesin family member 5C							51.0	49.0	49.0					2																	149793866		1942	4186	6128	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149793866C>G	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.360C>G	2.37:g.149793866C>G	ENSP00000393379:p.Ile120Met						p.I120M	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	4	728	+			120			Kinesin-motor.		O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.360C>G		.	.	.	.	.	.	.	.	.	.	C	17.11	3.306216	0.60305	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436	T;T	0.77620	-1.11;-1.11	4.57	1.79	0.24919	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86195	0.1615	9	0.87932	D	0	.	10.3798	0.44104	0.0:0.7763:0.0:0.2237	.	120	O60282	KIF5C_HUMAN	M	120;25;23	ENSP00000393379:I120M;ENSP00000410115:I25M	ENSP00000334176:I23M	I	+	3	3	KIF5C	149502112	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	0.255000	0.18333	0.645000	0.30675	0.563000	0.77884	ATC		0.483	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		2	7	0	0	0	0	2	7				
NFE2L2	4780	broad.mit.edu	37	2	178095623	178095623	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:178095623C>T	ENST00000397062.3	-	5	2262	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	NFE2L2_ENST00000446151.2_Missense_Mutation_p.D547N|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D554N|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D554N	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	570					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CCATCTTCATCACGTAGCATG	0.378			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		0				central_nervous_system(1)	1						c.(1708-1710)GAT>AAT		nuclear factor erythroid 2-like 2 isoform 1							194.0	175.0	181.0					2																	178095623		1859	4103	5962	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095623C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1708G>A	2.37:g.178095623C>T	ENSP00000380252:p.Asp570Asn	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D554N|NFE2L2_uc010zfa.1_Missense_Mutation_p.D547N|NFE2L2_uc002uli.3_Missense_Mutation_p.D554N	p.D570N	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2263	-			570					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1708G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860605	0.91433	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151	T;T;T	0.36699	1.26;1.24;1.26	6.03	6.03	0.97812	.	0.040776	0.85682	D	0.000000	T	0.66915	0.2838	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68796	-0.5314	10	0.87932	D	0	-20.5606	20.6398	0.99548	0.0:1.0:0.0:0.0	.	547;570	E9PGJ7;Q16236	.;NF2L2_HUMAN	N	554;570;547	ENSP00000380253:D554N;ENSP00000380252:D570N;ENSP00000411575:D547N	ENSP00000380252:D570N	D	-	1	0	NFE2L2	177803869	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.815000	0.86186	2.881000	0.98747	0.650000	0.86243	GAT		0.378	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		18	107	0	0	0	0	18	107				
TTN	7273	broad.mit.edu	37	2	179397871	179397871	+	Missense_Mutation	SNP	C	C	G	rs556218739		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:179397871C>G	ENST00000591111.1	-	308	98772	c.98548G>C	c.(98548-98550)Gaa>Caa	p.E32850Q	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25426Q|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31923Q|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25618Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25551Q|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34491Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32850					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.E25551Q(1)|p.E25618Q(1)|p.E25426Q(1)|p.E31921Q(1)|p.E31923Q(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)			GGTACACTTTCAGTTCCAGAA	0.433																																						uc010zfg.1		NA																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(95767-95769)GAA>CAA		titin isoform N2-A							175.0	172.0	173.0					2																	179397871		1896	4118	6014	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397871C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98548G>C	2.37:g.179397871C>G	ENSP00000465570:p.Glu32850Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25618Q|TTN_uc010zfi.1_Missense_Mutation_p.E25551Q|TTN_uc010zfj.1_Missense_Mutation_p.E25426Q	p.E31923Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	95991	-			32850					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.95767G>C		.	.	.	.	.	.	.	.	.	.	C	16.57	3.159292	0.57368	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63580	-0.05;0.19;0.17;0.16	5.94	5.94	0.96194	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.60248	0.2254	N	0.14661	0.345	0.49483	D	0.999798	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	P;P;P;P	0.52109	0.617;0.69;0.69;0.69	T	0.65981	-0.6036	9	0.87932	D	0	.	19.9583	0.97232	0.0:1.0:0.0:0.0	.	25426;25551;25618;32850	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	31923;25426;25618;25551;25423	ENSP00000343764:E31923Q;ENSP00000434586:E25426Q;ENSP00000340554:E25618Q;ENSP00000352154:E25551Q	ENSP00000340554:E25618Q	E	-	1	0	TTN	179106117	1.000000	0.71417	0.529000	0.27951	0.888000	0.51559	7.794000	0.85869	2.826000	0.97356	0.561000	0.74099	GAA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		41	131	0	0	0	0	41	131				
PGAP1	80055	broad.mit.edu	37	2	197767387	197767387	+	Silent	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:197767387T>A	ENST00000354764.4	-	5	843	c.729A>T	c.(727-729)ggA>ggT	p.G243G	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.G201G|PGAP1_ENST00000409475.1_Silent_p.G243G	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	243					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AATCCCGGAATCCTCCAGCTA	0.358																																						uc002utw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(727-729)GGA>GGT		GPI deacylase							89.0	96.0	93.0					2																	197767387		2203	4300	6503	SO:0001819	synonymous_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197767387T>A		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.729A>T	2.37:g.197767387T>A						PGAP1_uc002utx.2_Silent_p.G69G|PGAP1_uc002uty.1_Silent_p.G243G|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Silent_p.G69G	p.G243G	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			5	843	-			243			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	ENST00000354764.4	37	c.729A>T	CCDS2318.1																																																																																				0.358	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		14	54	0	0	0	0	14	54				
HSPD1	3329	broad.mit.edu	37	2	198363463	198363463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198363463C>T	ENST00000388968.3	-	2	377	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	HSPD1_ENST00000544407.1_Missense_Mutation_p.R37Q|HSPD1_ENST00000345042.2_Missense_Mutation_p.R37Q|HSPE1_ENST00000409729.1_5'Flank|HSPE1_ENST00000409468.1_5'Flank|HSPE1-MOB4_ENST00000604458.1_5'Flank|HSPE1_ENST00000233893.5_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	37					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATTAAGGCTCGGGCATCTGC	0.463																																						uc002uui.2		NA																	0					0						c.(109-111)CGA>CAA		chaperonin							78.0	82.0	81.0					2																	198363463		2203	4300	6503	SO:0001583	missense	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198363463C>T	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.110G>A	2.37:g.198363463C>T	ENSP00000373620:p.Arg37Gln					HSPD1_uc002uuj.2_Missense_Mutation_p.R37Q|HSPD1_uc010zgx.1_Missense_Mutation_p.R37Q|HSPD1_uc010fsm.2_5'UTR|HSPD1_uc002uuk.2_Missense_Mutation_p.R37Q|HSPD1_uc010zgy.1_Missense_Mutation_p.R37Q|HSPE1_uc002uul.2_5'Flank	p.R37Q	NM_002156	NP_002147	P10809	CH60_HUMAN	Epithelial(96;0.225)		2	247	-			37					B2R5M6|B7Z712|Q38L19|Q9UCR6	Missense_Mutation	SNP	ENST00000388968.3	37	c.110G>A	CCDS33357.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881928	0.91740	.	.	ENSG00000144381	ENST00000388968;ENST00000345042;ENST00000430176;ENST00000452200;ENST00000544407;ENST00000426480;ENST00000428204;ENST00000439605;ENST00000418022	D;D;T;T;T;T;D;T;T	0.90955	-2.76;-2.76;-0.39;-0.34;-0.47;-1.2;-1.69;-0.56;-0.56	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.88640	0.6491	M	0.64676	1.99	0.80722	D	1	B;D;P;B	0.53745	0.245;0.962;0.856;0.364	B;B;B;B	0.37304	0.007;0.236;0.246;0.015	D	0.91005	0.4845	10	0.87932	D	0	-10.4173	18.3608	0.90374	0.0:1.0:0.0:0.0	.	37;37;37;37	B7Z712;B7Z597;B3GQS7;P10809	.;.;.;CH60_HUMAN	Q	37;37;37;37;37;79;37;37;37	ENSP00000373620:R37Q;ENSP00000340019:R37Q;ENSP00000393670:R37Q;ENSP00000412717:R37Q;ENSP00000441296:R37Q;ENSP00000414446:R79Q;ENSP00000396460:R37Q;ENSP00000402478:R37Q;ENSP00000412227:R37Q	ENSP00000340019:R37Q	R	-	2	0	HSPD1	198071708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.414000	0.81942	0.585000	0.79938	CGA		0.463	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		16	85	0	0	0	0	16	85				
MARS2	92935	broad.mit.edu	37	2	198570406	198570406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198570406G>C	ENST00000282276.6	+	1	320	c.277G>C	c.(277-279)Gac>Cac	p.D93H	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	93					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CACTGGTACCGACGAGCACGG	0.667																																						uc002uuq.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(277-279)GAC>CAC		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						19.0	22.0	21.0					2																	198570406		2203	4297	6500	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570406G>C	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.277G>C	2.37:g.198570406G>C	ENSP00000282276:p.Asp93His					uc002uup.2_Intron	p.D93H	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	320	+			93					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.277G>C	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950815	0.92660	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	D	0.88509	-2.39	5.78	5.78	0.91487	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98459	1.0595	10	0.87932	D	0	-23.5147	17.5058	0.87745	0.0:0.0:1.0:0.0	.	93	Q96GW9	SYMM_HUMAN	H	93	ENSP00000282276:D93H	ENSP00000282276:D93H	D	+	1	0	MARS2	198278651	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	9.420000	0.97426	2.706000	0.92434	0.655000	0.94253	GAC		0.667	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		8	26	0	0	0	0	8	26				
MARS2	92935	broad.mit.edu	37	2	198570421	198570421	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198570421A>C	ENST00000282276.6	+	1	335	c.292A>C	c.(292-294)Aag>Cag	p.K98Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	98					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCACGGGCTGAAGATTCAGCA	0.672																																						uc002uuq.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(292-294)AAG>CAG		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						20.0	24.0	22.0					2																	198570421		2203	4298	6501	SO:0001583	missense	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570421A>C	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.292A>C	2.37:g.198570421A>C	ENSP00000282276:p.Lys98Gln					uc002uup.2_Intron	p.K98Q	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	335	+			98					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	ENST00000282276.6	37	c.292A>C	CCDS33358.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.724701	0.89298	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.52295	0.67	5.78	5.78	0.91487	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88517	0.3093	10	0.87932	D	0	-20.2817	14.0629	0.64810	1.0:0.0:0.0:0.0	.	98	Q96GW9	SYMM_HUMAN	Q	98	ENSP00000282276:K98Q	ENSP00000282276:K98Q	K	+	1	0	MARS2	198278666	1.000000	0.71417	0.996000	0.52242	0.817000	0.46193	8.967000	0.93402	2.185000	0.69588	0.533000	0.62120	AAG		0.672	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		8	31	0	0	0	0	8	31				
CXCR2	3579	broad.mit.edu	37	2	218999995	218999995	+	Missense_Mutation	SNP	G	G	C	rs146545386		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:218999995G>C	ENST00000318507.2	+	3	898	c.471G>C	c.(469-471)caG>caC	p.Q157H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	157					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CACTGACCCAGAAGCGCTACT	0.527																																						uc002vgz.1		NA																	0				lung(1)|breast(1)	2						c.(469-471)CAG>CAC		interleukin 8 receptor beta							100.0	89.0	92.0					2																	218999995		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:218999995G>C	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.471G>C	2.37:g.218999995G>C	ENSP00000319635:p.Gln157His					CXCR2_uc002vha.1_Missense_Mutation_p.Q157H|CXCR2_uc002vhb.1_Missense_Mutation_p.Q157H	p.Q157H	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	696	+			157			Cytoplasmic (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.471G>C	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290636	0.23564	.	.	ENSG00000180871	ENST00000453237;ENST00000318507;ENST00000428565	T;T;T	0.37411	1.2;1.2;1.2	5.06	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.676509	0.15162	N	0.277100	T	0.22936	0.0554	N	0.25031	0.7	0.30211	N	0.79771	B	0.20459	0.045	B	0.27608	0.081	T	0.06991	-1.0796	10	0.33940	T	0.23	.	4.9945	0.14231	0.172:0.1859:0.6421:0.0	.	157	P25025	CXCR2_HUMAN	H	157	ENSP00000413686:Q157H;ENSP00000319635:Q157H;ENSP00000392698:Q157H	ENSP00000319635:Q157H	Q	+	3	2	CXCR2	218708240	0.397000	0.25270	1.000000	0.80357	0.663000	0.39108	0.461000	0.21940	2.529000	0.85273	0.456000	0.33151	CAG		0.527	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		15	36	0	0	0	0	15	36				
CXCR2	3579	broad.mit.edu	37	2	219000052	219000052	+	Silent	SNP	G	G	A	rs201535541		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:219000052G>A	ENST00000318507.2	+	3	955	c.528G>A	c.(526-528)ctG>ctA	p.L176L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	176					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCTTGCTCCTGGCCCTGCCTG	0.532																																						uc002vgz.1		NA																	0				lung(1)|breast(1)	2						c.(526-528)CTG>CTA		interleukin 8 receptor beta							88.0	78.0	82.0					2																	219000052		2203	4300	6503	SO:0001819	synonymous_variant	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000052G>A	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.528G>A	2.37:g.219000052G>A						CXCR2_uc002vha.1_Silent_p.L176L|CXCR2_uc002vhb.1_Silent_p.L176L	p.L176L	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	753	+			176			Helical; Name=4; (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	c.528G>A	CCDS2408.1																																																																																				0.532	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557		18	32	0	0	0	0	18	32				
TRIP12	9320	broad.mit.edu	37	2	230653558	230653558	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:230653558C>T	ENST00000283943.5	-	31	4747	c.4569G>A	c.(4567-4569)atG>atA	p.M1523I	TRIP12_ENST00000389045.3_Missense_Mutation_p.M1253I|TRIP12_ENST00000389044.4_Missense_Mutation_p.M1571I	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1523	K-box.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGTTTCCTGTCATGATTACTA	0.378																																						uc002vpw.1		NA																	0				ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(4567-4569)ATG>ATA		thyroid hormone receptor interactor 12							275.0	247.0	257.0					2																	230653558		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230653558C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4569G>A	2.37:g.230653558C>T	ENSP00000283943:p.Met1523Ile					TRIP12_uc002vpx.1_Missense_Mutation_p.M1571I|TRIP12_uc002vpy.1_Missense_Mutation_p.M1253I	p.M1523I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	31	4678	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1523			K-box.		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4569G>A	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726510	0.89298	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.08008	3.14;3.14;3.14	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	L	0.55213	1.73	0.80722	D	1	P;P;P	0.41159	0.525;0.74;0.525	P;P;P	0.48425	0.48;0.577;0.48	T	0.00046	-1.2212	10	0.51188	T	0.08	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	1253;1571;1523	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	I	1523;1253;1571	ENSP00000283943:M1523I;ENSP00000373697:M1253I;ENSP00000373696:M1571I	ENSP00000283943:M1523I	M	-	3	0	TRIP12	230361802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	2.724000	0.93272	0.563000	0.77884	ATG		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		32	92	0	0	0	0	32	92				
ATG16L1	55054	broad.mit.edu	37	2	234186223	234186223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:234186223G>A	ENST00000392017.4	+	10	1221	c.964G>A	c.(964-966)Gat>Aat	p.D322N	SCARNA5_ENST00000516201.1_RNA|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D178N|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D303N|ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Missense_Mutation_p.D159N|ATG16L1_ENST00000392018.1_Missense_Mutation_p.D339N	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	322					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGATGCACATGATGGGGAAGT	0.522																																						uc002vty.2		NA																	0					0						c.(964-966)GAT>AAT		APG16 autophagy 16-like isoform 1							125.0	103.0	110.0					2																	234186223		2203	4300	6503	SO:0001583	missense	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234186223G>A	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.964G>A	2.37:g.234186223G>A	ENSP00000375872:p.Asp322Asn					ATG16L1_uc002vtx.1_Missense_Mutation_p.D159N|ATG16L1_uc002vua.2_Missense_Mutation_p.D303N|ATG16L1_uc002vub.2_Missense_Mutation_p.D180N|ATG16L1_uc002vtz.2_Missense_Mutation_p.D178N|ATG16L1_uc002vud.3_Missense_Mutation_p.D238N	p.D322N	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	10	1221	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	322			WD 1.		A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	ENST00000392017.4	37	c.964G>A	CCDS2503.2	.	.	.	.	.	.	.	.	.	.	G	35	5.473478	0.96274	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000419681;ENST00000392020;ENST00000392018	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.4;0.24;0.24	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.090110	0.85682	D	0.000000	T	0.65069	0.2656	N	0.25380	0.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.994;0.999;0.997	T	0.59445	-0.7453	10	0.19590	T	0.45	.	19.1217	0.93365	0.0:0.0:1.0:0.0	.	276;303;178;322;159	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	N	322;159;178;159;303;339	ENSP00000375872:D322N;ENSP00000318259:D159N;ENSP00000362625:D178N;ENSP00000398773:D159N;ENSP00000375875:D303N;ENSP00000375873:D339N	ENSP00000318259:D159N	D	+	1	0	ATG16L1	233850962	1.000000	0.71417	0.830000	0.32933	0.988000	0.76386	9.476000	0.97823	2.520000	0.84964	0.650000	0.86243	GAT		0.522	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2	NM_017974		15	48	0	0	0	0	15	48				
UGT1A1	54658	broad.mit.edu	37	2	234527112	234527112	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:234527112G>A	ENST00000373450.4	+	1	822	c.759G>A	c.(757-759)ttG>ttA	p.L253L		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	256					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTTGGTTGTTGCGAACAGACT	0.428																																						uc002vup.2		NA																	0				ovary(2)	2						c.(757-759)TTG>TTA		UDP glycosyltransferase 1 family, polypeptide A8							259.0	260.0	259.0					2																	234527112		2203	4300	6503	SO:0001819	synonymous_variant	54576				drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding	g.chr2:234527112G>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.759G>A	2.37:g.234527112G>A						UGT1A8_uc010zmv.1_Silent_p.L253L	p.L253L	NM_019076	NP_061949	Q9HAW9	UD18_HUMAN		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	822	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	253					A6NJC3|B8K286	Silent	SNP	ENST00000373450.4	37	c.759G>A	CCDS33402.1																																																																																				0.428	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			61	290	0	0	0	0	61	290				
PASK	23178	broad.mit.edu	37	2	242065973	242065973	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:242065973T>C	ENST00000405260.1	-	10	3055	c.2357A>G	c.(2356-2358)gAa>gGa	p.E786G	PASK_ENST00000358649.4_Missense_Mutation_p.E786G|PASK_ENST00000234040.4_Missense_Mutation_p.E786G|PASK_ENST00000539818.1_Missense_Mutation_p.E570G|PASK_ENST00000544142.1_Missense_Mutation_p.E600G|PASK_ENST00000403638.3_Missense_Mutation_p.E786G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	786					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGACCCCTGTTCCTGGAGACT	0.567																																						uc002wao.1		NA																	0				ovary(4)|lung(1)|skin(1)	6						c.(2356-2358)GAA>GGA		PAS domain containing serine/threonine kinase							107.0	96.0	100.0					2																	242065973		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242065973T>C	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.2357A>G	2.37:g.242065973T>C	ENSP00000384016:p.Glu786Gly					PASK_uc010zol.1_Missense_Mutation_p.E600G|PASK_uc010zom.1_Missense_Mutation_p.E751G|PASK_uc010fzl.1_Missense_Mutation_p.E786G|PASK_uc010zon.1_Missense_Mutation_p.E567G|PASK_uc002wap.2_Missense_Mutation_p.E329G|PASK_uc002waq.2_Missense_Mutation_p.E786G	p.E786G	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	2449	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	786					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.2357A>G	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	T	7.306	0.614041	0.14066	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.19;-0.23;0.77	4.4	2.57	0.30868	.	1.346100	0.05005	N	0.469857	T	0.42337	0.1198	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	T	0.28427	-1.0044	10	0.15499	T	0.54	.	7.4246	0.27092	0.0:0.7868:0.0:0.2132	.	751;600;786;786;786	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	G	786;600;786;786;570;786	ENSP00000234040:E786G;ENSP00000441374:E600G;ENSP00000384016:E786G;ENSP00000351475:E786G;ENSP00000443083:E570G;ENSP00000384438:E786G	ENSP00000234040:E786G	E	-	2	0	PASK	241714646	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.044000	0.12023	0.414000	0.25790	-0.366000	0.07423	GAA		0.567	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		22	65	0	0	0	0	22	65				
PLCB1	23236	broad.mit.edu	37	20	8717816	8717816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:8717816G>A	ENST00000338037.6	+	20	2212	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PLCB1_ENST00000378641.3_Missense_Mutation_p.E729K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.E729K	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	729	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCTGGGAAGAAGAACCTAT	0.378																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2185-2187)GAA>AAA		phosphoinositide-specific phospholipase C beta 1							117.0	107.0	110.0					20																	8717816		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8717816G>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2185G>A	20.37:g.8717816G>A	ENSP00000338185:p.Glu729Lys					PLCB1_uc010zrb.1_Missense_Mutation_p.E628K|PLCB1_uc002wna.2_Missense_Mutation_p.E729K|PLCB1_uc002wnc.1_Missense_Mutation_p.E628K|PLCB1_uc002wnd.1_Missense_Mutation_p.E306K	p.E729K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			20	2188	+			729			C2.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2185G>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483024	0.96307	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719;ENST00000338061;ENST00000439627	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	M	0.79123	2.44	0.80722	D	1	P;D	0.65815	0.912;0.995	P;D	0.64687	0.63;0.928	T	0.56829	-0.7914	10	0.87932	D	0	.	19.6011	0.95561	0.0:0.0:1.0:0.0	.	729;729	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	K	729;729;729;649;649;75;48	ENSP00000367908:E729K;ENSP00000338185:E729K;ENSP00000367904:E729K;ENSP00000391162:E48K	ENSP00000338185:E729K	E	+	1	0	PLCB1	8665816	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.703000	0.92315	0.557000	0.71058	GAA		0.378	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			6	42	0	0	0	0	6	42				
SLC12A5	57468	broad.mit.edu	37	20	44675031	44675031	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:44675031G>T	ENST00000454036.2	+	14	1861	c.1812G>T	c.(1810-1812)ctG>ctT	p.L604L	SLC12A5_ENST00000243964.3_Silent_p.L581L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	604					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAGACGCTGCTGAGGACAC	0.567																																						uc010zxl.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1810-1812)CTG>CTT		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						128.0	109.0	116.0					20																	44675031		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44675031G>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1812G>T	20.37:g.44675031G>T						SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Silent_p.L581L	p.L604L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			14	1888	+		Myeloproliferative disorder(115;0.0122)	604			Cytoplasmic (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.1812G>T	CCDS46610.1																																																																																				0.567	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			14	65	1	0	6.72e-11	9.95e-11	14	65				
ZFP64	55734	broad.mit.edu	37	20	50701128	50701128	+	Missense_Mutation	SNP	C	C	T	rs142930891	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:50701128C>T	ENST00000361387.2	-	9	1966	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.E417K	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGGGAGCCTCGAGCTGCCCC	0.612																																						uc002xwk.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1906-1908)GAG>AAG		zinc finger protein 64 isoform d		C	LYS/GLU	0,4406		0,0,2203	36.0	36.0	36.0		1906	2.4	0.7	20	dbSNP_134	36	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ZFP64	NM_199427.2	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		636/646	50701128	2,13004	2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701128C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1906G>A	20.37:g.50701128C>T	ENSP00000355179:p.Glu636Lys					ZFP64_uc002xwj.2_Missense_Mutation_p.E417K	p.E636K	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN			9	2255	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000361387.2	37	c.1906G>A	CCDS13439.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020717	0.54576	0.0	2.33E-4	ENSG00000020256	ENST00000371523;ENST00000361387	T;T	0.06142	3.34;3.35	4.5	2.41	0.29592	.	.	.	.	.	T	0.03564	0.0102	N	0.19112	0.55	0.58432	D	0.999998	B;P	0.43314	0.291;0.803	B;B	0.25884	0.009;0.064	T	0.53294	-0.8459	9	0.66056	D	0.02	.	12.3825	0.55315	0.0:0.51:0.49:0.0	.	636;417	Q9NTW7;Q9NTW7-2	ZF64B_HUMAN;.	K	417;636	ENSP00000360578:E417K;ENSP00000355179:E636K	ENSP00000355179:E636K	E	-	1	0	ZFP64	50134535	0.487000	0.25988	0.748000	0.31131	0.144000	0.21451	1.612000	0.36889	1.257000	0.44085	-0.122000	0.15005	GAG		0.612	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		11	30	0	0	0	0	11	30				
BMP7	655	broad.mit.edu	37	20	55750064	55750064	+	Splice_Site	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:55750064C>G	ENST00000395863.3	-	5	1464		c.e5-1		BMP7_ENST00000450594.2_Splice_Site|BMP7_ENST00000395864.3_Splice_Site|BMP7_ENST00000460817.1_Splice_Site	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7						axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTGCTGTTCTCTGCATTGACA	0.537																																						uc010gip.1		NA																	0				skin(1)	1						c.e5-1		bone morphogenetic protein 7 precursor							73.0	48.0	57.0					20																	55750064		2203	4300	6503	SO:0001630	splice_region_variant	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55750064C>G		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.959-1G>C	20.37:g.55750064C>G						BMP7_uc010giq.1_Splice_Site_p.E254_splice|BMP7_uc002xyc.2_Splice_Site_p.E320_splice	p.E320_splice	NM_001719	NP_001710	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		5	1488	-	all_lung(29;0.0133)|Melanoma(10;0.242)							Q9H512|Q9NTQ7	Splice_Site	SNP	ENST00000395863.3	37	c.959_splice	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969051	0.34754	.	.	ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594;ENST00000433911	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5132	0.90925	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BMP7	55183471	1.000000	0.71417	0.997000	0.53966	0.012000	0.07955	5.910000	0.69931	2.357000	0.79964	0.585000	0.79938	.		0.537	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		Intron	4	6	0	0	0	0	4	6				
PHACTR3	116154	broad.mit.edu	37	20	58349449	58349449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:58349449G>T	ENST00000371015.1	+	7	1545	c.1078G>T	c.(1078-1080)Gag>Tag	p.E360*	PHACTR3_ENST00000359926.3_Nonsense_Mutation_p.E357*|PHACTR3_ENST00000395636.2_Nonsense_Mutation_p.E319*|PHACTR3_ENST00000361300.4_Nonsense_Mutation_p.E249*|PHACTR3_ENST00000395639.4_Nonsense_Mutation_p.E249*|PHACTR3_ENST00000355648.4_Nonsense_Mutation_p.E319*|PHACTR3_ENST00000541461.1_Nonsense_Mutation_p.E319*	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	360						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TAAGGAATCTGAGGAGAACAA	0.517																																						uc002yau.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1078-1080)GAG>TAG		phosphatase and actin regulator 3 isoform 1							129.0	127.0	127.0					20																	58349449		2203	4300	6503	SO:0001587	stop_gained	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58349449G>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1078G>T	20.37:g.58349449G>T	ENSP00000360054:p.Glu360*					PHACTR3_uc002yat.2_Nonsense_Mutation_p.E357*|PHACTR3_uc010zzw.1_Nonsense_Mutation_p.E319*|PHACTR3_uc002yav.2_Nonsense_Mutation_p.E319*|PHACTR3_uc002yaw.2_Nonsense_Mutation_p.E319*|PHACTR3_uc002yax.2_Nonsense_Mutation_p.E249*	p.E360*	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		7	1545	+	all_lung(29;0.00344)		360			Potential.		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Nonsense_Mutation	SNP	ENST00000371015.1	37	c.1078G>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	38	7.044715	0.98025	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	.	.	.	5.06	5.06	0.68205	.	0.286197	0.39544	N	0.001322	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-26.0781	17.4155	0.87498	0.0:0.0:1.0:0.0	.	.	.	.	X	357;360;249;319;319;319;249	.	ENSP00000347866:E319X	E	+	1	0	PHACTR3	57782844	1.000000	0.71417	0.933000	0.37362	0.800000	0.45204	8.550000	0.90675	2.335000	0.79485	0.655000	0.94253	GAG		0.517	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		22	70	1	0	8.1e-08	1.17e-07	22	70				
KCNQ2	3785	broad.mit.edu	37	20	62039880	62039880	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:62039880C>G	ENST00000359125.2	-	16	1947	c.1773G>C	c.(1771-1773)caG>caC	p.Q591H	KCNQ2_ENST00000370224.1_Missense_Mutation_p.Q599H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q573H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.Q560H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Q591H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.Q599H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Q563H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	591					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCCCCACGATCTGGTCCACTC	0.697																																						uc002yey.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1771-1773)CAG>CAC		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						23.0	23.0	23.0					20																	62039880		2195	4298	6493	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62039880C>G	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1773G>C	20.37:g.62039880C>G	ENSP00000352035:p.Gln591His					KCNQ2_uc002yez.1_Missense_Mutation_p.Q560H|KCNQ2_uc002yfa.1_Missense_Mutation_p.Q573H|KCNQ2_uc002yfb.1_Missense_Mutation_p.Q563H	p.Q591H	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		16	1950	-	all_cancers(38;1.24e-11)		591			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.1773G>C	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063949	0.76187	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.87	4.87	0.63330	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.648787	0.13097	N	0.414051	D	0.99829	0.9923	M	0.78049	2.395	0.58432	D	0.999998	B;B;D;B	0.71674	0.061;0.061;0.998;0.148	B;B;D;B	0.64595	0.023;0.033;0.927;0.093	D	0.97767	1.0224	10	0.45353	T	0.12	-8.3127	17.981	0.89141	0.0:1.0:0.0:0.0	.	563;573;560;591	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	H	573;591;561;599;591;560;563;587;599	ENSP00000349789:Q573H;ENSP00000352035:Q591H;ENSP00000359246:Q561H;ENSP00000346601:Q599H;ENSP00000352718:Q591H;ENSP00000399612:Q560H;ENSP00000353668:Q563H;ENSP00000339611:Q587H;ENSP00000359244:Q599H	ENSP00000339611:Q587H	Q	-	3	2	KCNQ2	61510324	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.704000	0.61831	2.252000	0.74401	0.491000	0.48974	CAG		0.697	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		3	18	0	0	0	0	3	18				
BAGE2	85319	broad.mit.edu	37	21	11049596	11049596	+	RNA	SNP	C	C	T	rs28571918	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:11049596C>T	ENST00000470054.1	-	0	512							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGCTGTCGCACACTGCACAGT	0.373																																						uc002yit.1		NA																	0					0						c.(304-306)TGT>TAT		B melanoma antigen family, member 2 precursor							86.0	66.0	72.0					21																	11049596		692	1591	2283			85319							g.chr21:11049596C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049596C>T							p.C102Y	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	513	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.305G>A																																																																																					0.373	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		26	143	0	0	0	0	26	143				
BAGE2	85319	broad.mit.edu	37	21	11049621	11049621	+	RNA	SNP	G	G	A	rs28441174	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:11049621G>A	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATCTTCCTTCGCTATAATTAA	0.368													g|||	470	0.0938498	0.1558	0.0533	5008	,	,		116266	0.0268		0.0626	False		,,,				2504	0.1401					uc002yit.1		NA																	0					0						c.(280-282)CGA>TGA		B melanoma antigen family, member 2 precursor							139.0	99.0	111.0					21																	11049621		692	1591	2283			85319							g.chr21:11049621G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049621G>A							p.R94*	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	488	-								A8K925|Q08ER0	Nonsense_Mutation	SNP	ENST00000470054.1	37	c.280C>T																																																																																					0.368	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		22	144	0	0	0	0	22	144				
BAGE2	85319	broad.mit.edu	37	21	11049623	11049623	+	RNA	SNP	T	T	C	rs28537865	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:11049623T>C	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTCCTTCGCTATAATTAACA	0.368													t|||	470	0.0938498	0.1558	0.0533	5008	,	,		112925	0.0268		0.0626	False		,,,				2504	0.1401					uc002yit.1		NA																	0					0						c.e4-1		B melanoma antigen family, member 2 precursor							140.0	100.0	112.0					21																	11049623		692	1591	2283			85319							g.chr21:11049623T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049623T>C							p.R94_splice	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	488	-								A8K925|Q08ER0	Splice_Site	SNP	ENST00000470054.1	37	c.280_splice																																																																																					0.368	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		21	144	0	0	0	0	21	144				
NCAM2	4685	broad.mit.edu	37	21	22710789	22710789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:22710789G>A	ENST00000400546.1	+	8	1228	c.979G>A	c.(979-981)Gag>Aag	p.E327K	NCAM2_ENST00000284894.7_Missense_Mutation_p.E185K|NCAM2_ENST00000535285.1_Missense_Mutation_p.E352K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	327	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCGGAAGGGGAGCCTATTCC	0.388																																						uc002yld.1		NA																	0				ovary(4)	4						c.(979-981)GAG>AAG		neural cell adhesion molecule 2 precursor							69.0	66.0	67.0					21																	22710789		1903	4115	6018	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22710789G>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.979G>A	21.37:g.22710789G>A	ENSP00000383392:p.Glu327Lys					NCAM2_uc011acb.1_Missense_Mutation_p.E185K|NCAM2_uc011acc.1_Missense_Mutation_p.E352K	p.E327K	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	8	1228	+		Lung NSC(9;0.195)	327			Ig-like C2-type 4.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.979G>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935750	0.92458	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.67171	-0.25;-0.25;1.33	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	L	0.27944	0.81	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.91635	0.999;0.992;0.983	T	0.73927	-0.3828	10	0.46703	T	0.11	-24.5568	18.6141	0.91296	0.0:0.0:1.0:0.0	.	352;185;327	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	K	327;185;352	ENSP00000383392:E327K;ENSP00000284894:E185K;ENSP00000441887:E352K	ENSP00000284894:E185K	E	+	1	0	NCAM2	21632660	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.308000	0.65768	2.736000	0.93811	0.591000	0.81541	GAG		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		8	16	0	0	0	0	8	16				
SYNJ1	8867	broad.mit.edu	37	21	34037326	34037326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:34037326C>T	ENST00000322229.7	-	17	2200	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	SYNJ1_ENST00000382491.3_Missense_Mutation_p.R729Q|SYNJ1_ENST00000382499.2_Missense_Mutation_p.R773Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R734Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R773Q			O43426	SYNJ1_HUMAN	synaptojanin 1	734	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GAGATCGATTCGATAGTTGAA	0.348																																						uc002yqh.2		NA																	0				ovary(4)|skin(1)	5						c.(2317-2319)CGA>CAA		synaptojanin 1 isoform a							110.0	104.0	106.0					21																	34037326		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34037326C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2201G>A	21.37:g.34037326C>T	ENSP00000322234:p.Arg734Gln					SYNJ1_uc011ads.1_Missense_Mutation_p.R729Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.R734Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.R729Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.R773Q	p.R773Q	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			18	2318	-			734			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.2318G>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	36	5.884115	0.97062	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09	5.66	5.66	0.87406	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.97103	3.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.99316	1.0905	10	0.87932	D	0	.	19.7472	0.96257	0.0:1.0:0.0:0.0	.	729;773;734;734;734	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Q	729;734;773;773;734	ENSP00000371931:R729Q;ENSP00000349903:R734Q;ENSP00000371939:R773Q;ENSP00000409667:R773Q;ENSP00000322234:R734Q	ENSP00000322234:R734Q	R	-	2	0	SYNJ1	32959197	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	7.814000	0.86154	2.653000	0.90120	0.561000	0.74099	CGA		0.348	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				7	44	0	0	0	0	7	44				
MX1	4599	broad.mit.edu	37	21	42824567	42824567	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:42824567G>C	ENST00000398600.2	+	18	2554	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T	MX1_ENST00000455164.2_Missense_Mutation_p.R510T|MX1_ENST00000398598.3_Missense_Mutation_p.R510T|MX1_ENST00000288383.6_Missense_Mutation_p.R487T	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	510	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAAGACATTAGAGCAGAACAA	0.428																																						uc002yzh.2		NA																	0				ovary(1)	1						c.(1528-1530)AGA>ACA		myxovirus resistance protein 1							77.0	81.0	80.0					21																	42824567		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42824567G>C		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1529G>C	21.37:g.42824567G>C	ENSP00000381601:p.Arg510Thr					MX1_uc002yzi.2_Missense_Mutation_p.R510T|MX1_uc010goq.2_Missense_Mutation_p.R510T	p.R510T	NM_001144925	NP_001138397	P20591	MX1_HUMAN			18	2476	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	510					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1529G>C	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335606	0.24253	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	4.61	1.33	0.21861	Dynamin central domain (1);	0.529195	0.22190	N	0.063391	T	0.69735	0.3144	M	0.70595	2.14	0.09310	N	1	P	0.37688	0.605	B	0.43701	0.428	T	0.62416	-0.6859	10	0.59425	D	0.04	-3.3694	7.0938	0.25299	0.3346:0.0:0.6654:0.0	.	510	P20591	MX1_HUMAN	T	510;510;510;487	ENSP00000381601:R510T;ENSP00000381599:R510T;ENSP00000410523:R510T;ENSP00000288383:R487T	ENSP00000288383:R487T	R	+	2	0	MX1	41746437	0.000000	0.05858	0.006000	0.13384	0.026000	0.11368	0.626000	0.24492	0.145000	0.18977	0.563000	0.77884	AGA		0.428	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			17	71	0	0	0	0	17	71				
RIPK4	54101	broad.mit.edu	37	21	43161791	43161791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:43161791C>T	ENST00000352483.2	-	9	1770	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.R458Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.R521Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R458Q			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	569					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R569Q(1)|p.R521Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAACAGCAGCCGTGTGCTAGA	0.627																																						uc002yzn.1		NA																	2	Substitution - Missense(2)		large_intestine(2)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1561-1563)CGG>CAG		ankyrin repeat domain 3							89.0	72.0	78.0					21																	43161791		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43161791C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1706G>A	21.37:g.43161791C>T	ENSP00000330161:p.Arg569Gln						p.R521Q	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1610	-			521					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1562G>A		.	.	.	.	.	.	.	.	.	.	C	14.49	2.550979	0.45383	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.84	4.84	0.62591	.	0.097403	0.40385	N	0.001108	T	0.49012	0.1532	N	0.26130	0.795	0.46701	D	0.99916	D	0.56287	0.975	B	0.42738	0.396	T	0.55309	-0.8161	10	0.66056	D	0.02	-41.8438	10.5341	0.44994	0.0:0.8998:0.0:0.1002	.	521	P57078-2	.	Q	521;569;458;458;260	ENSP00000332454:R521Q;ENSP00000330161:R569Q;ENSP00000441754:R458Q;ENSP00000442901:R458Q	ENSP00000330975:R260Q	R	-	2	0	RIPK4	42034860	1.000000	0.71417	0.984000	0.44739	0.087000	0.18053	4.762000	0.62250	2.209000	0.71365	0.655000	0.94253	CGG		0.627	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		9	44	0	0	0	0	9	44				
UMODL1	89766	broad.mit.edu	37	21	43531075	43531075	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:43531075C>T	ENST00000408910.2	+	11	1743	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400424.2_Silent_p.L509L|UMODL1_ENST00000400427.1_Silent_p.L509L|UMODL1_ENST00000408989.2_Silent_p.L581L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	581					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGCCCTCGGCCTAGAGA	0.657																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	0				ovary(2)|skin(1)	3						c.(1741-1743)CTC>CTT		uromodulin-like 1 isoform 1 precursor							30.0	38.0	35.0					21																	43531075		2042	4186	6228	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43531075C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1743C>T	21.37:g.43531075C>T						UMODL1_uc002zad.1_Silent_p.L509L|UMODL1_uc002zae.1_Silent_p.L509L|UMODL1_uc002zag.1_Silent_p.L581L|C21orf128_uc002zak.2_5'Flank	p.L581L	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			11	1743	+			581			Extracellular (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.1743C>T	CCDS42936.1																																																																																				0.657	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			12	32	0	0	0	0	12	32				
MCM3AP	8888	broad.mit.edu	37	21	47665030	47665030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:47665030C>T	ENST00000397708.1	-	24	4983	c.4729G>A	c.(4729-4731)Gaa>Aaa	p.E1577K	MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1577K|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000444998.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1577					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATCCCGTCTTCGACGTACTGA	0.542																																						uc002zir.1		NA																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(4729-4731)GAA>AAA		minichromosome maintenance complex component 3							57.0	59.0	58.0					21																	47665030		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47665030C>T	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4729G>A	21.37:g.47665030C>T	ENSP00000380820:p.Glu1577Lys					MCM3APAS_uc002zim.2_Intron|MCM3APAS_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.E72K|MCM3AP_uc002zip.1_Missense_Mutation_p.E318K|MCM3AP_uc002ziq.1_Missense_Mutation_p.E504K|MCM3APAS_uc002zis.1_Intron	p.E1577K	NM_003906	NP_003897	O60318	MCM3A_HUMAN			23	4765	-	Breast(49;0.112)		1577					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.4729G>A	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529341	0.85706	.	.	ENSG00000160294	ENST00000397708;ENST00000291688;ENST00000539647	T;T	0.07688	3.17;3.17	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	M	0.73598	2.24	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.98	T	0.03193	-1.1062	10	0.87932	D	0	-26.58	18.9798	0.92751	0.0:1.0:0.0:0.0	.	1577;72	O60318;B3KT88	MCM3A_HUMAN;.	K	1577;1577;72	ENSP00000380820:E1577K;ENSP00000291688:E1577K	ENSP00000291688:E1577K	E	-	1	0	MCM3AP	46489458	1.000000	0.71417	0.940000	0.37924	0.425000	0.31504	6.653000	0.74382	2.476000	0.83614	0.561000	0.74099	GAA		0.542	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		16	56	0	0	0	0	16	56				
XKR3	150165	broad.mit.edu	37	22	17288845	17288845	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:17288845G>C	ENST00000331428.5	-	2	221	c.119C>G	c.(118-120)tCa>tGa	p.S40*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAGAACAGTTGAGAAGATAAT	0.388																																						uc002zlv.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(118-120)TCA>TGA		X Kell blood group precursor-related family,							112.0	107.0	109.0					22																	17288845		1879	4108	5987	SO:0001587	stop_gained	150165					integral to membrane|plasma membrane		g.chr22:17288845G>C	AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.119C>G	22.37:g.17288845G>C	ENSP00000331704:p.Ser40*					XKR3_uc011agf.1_Nonsense_Mutation_p.S40*	p.S40*	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN			2	217	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	40			Helical; (Potential).		B2RPN1|Q52PG8|Q8N7E1	Nonsense_Mutation	SNP	ENST00000331428.5	37	c.119C>G	CCDS42975.1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.521801	0.44866	.	.	ENSG00000172967	ENST00000331428	.	.	.	0.539	0.539	0.17156	.	0.166361	0.39687	U	0.001294	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.0016	0.24813	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	40	.	ENSP00000331704:S40X	S	-	2	0	XKR3	15668845	0.942000	0.31987	0.039000	0.18376	0.017000	0.09413	1.429000	0.34903	0.580000	0.29522	0.297000	0.19635	TCA		0.388	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289789.1	NM_175878		15	59	0	0	0	0	15	59				
LIF	3976	broad.mit.edu	37	22	30639779	30639779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:30639779C>A	ENST00000249075.3	-	3	625	c.470G>T	c.(469-471)aGc>aTc	p.S157I	RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	157					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GTGGTACTTGCTGCACAGGCG	0.607																																						uc003agz.2		NA																	0					0						c.(469-471)AGC>ATC		leukemia inhibitory factor (cholinergic							224.0	186.0	199.0					22																	30639779		2203	4300	6503	SO:0001583	missense	3976				immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding	g.chr22:30639779C>A		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.470G>T	22.37:g.30639779C>A	ENSP00000249075:p.Ser157Ile					LIF_uc011aks.1_3'UTR|uc003aha.2_5'Flank	p.S157I	NM_002309	NP_002300	P15018	LIF_HUMAN	Epithelial(10;0.171)		3	582	-			157					B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	c.470G>T	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.610814	0.66558	.	.	ENSG00000128342	ENST00000249075	T	0.75704	-0.96	4.99	-6.61	0.01818	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.530331	0.19534	N	0.111980	T	0.59649	0.2209	L	0.36672	1.1	0.80722	D	1	P	0.35155	0.487	B	0.38921	0.285	T	0.53507	-0.8429	10	0.62326	D	0.03	-10.7364	9.807	0.40799	0.0:0.1668:0.1049:0.7283	.	157	P15018	LIF_HUMAN	I	157	ENSP00000249075:S157I	ENSP00000249075:S157I	S	-	2	0	LIF	28969779	0.464000	0.25807	0.890000	0.34922	0.995000	0.86356	-0.838000	0.04372	-1.141000	0.02873	0.561000	0.74099	AGC		0.607	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		24	59	1	0	1.18e-12	1.76e-12	24	59				
CSNK1E	1454	broad.mit.edu	37	22	38690154	38690154	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:38690154G>A	ENST00000396832.1	-	9	1439	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	CSNK1E_ENST00000359867.3_Silent_p.L393L|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000403904.1_Silent_p.L393L|CSNK1E_ENST00000400206.2_Silent_p.L393L	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	393					cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCCGCCCAGTGAGGTCTGAGG	0.647																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	uc003avj.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1177-1179)CTC>CTT		casein kinase 1 epsilon							31.0	32.0	32.0					22																	38690154		2202	4300	6502	SO:0001819	synonymous_variant	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38690154G>A		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.1179C>T	22.37:g.38690154G>A						CSNK1E_uc003avk.2_Silent_p.L393L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Silent_p.L393L|CSNK1E_uc003avn.1_Silent_p.L77L|CSNK1E_uc003avo.2_Silent_p.L393L	p.L393L	NM_152221	NP_689407	P49674	KC1E_HUMAN			9	1440	-	Melanoma(58;0.045)		393						Silent	SNP	ENST00000396832.1	37	c.1179C>T	CCDS13970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.851|6.851	0.526346|0.526346	0.13066|0.13066	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000431632|ENST00000366216	.|.	.|.	.|.	5.69|5.69	4.67|4.67	0.58626|0.58626	.|.	.|.	.|.	.|.	.|.	T|T	0.70298|0.70298	0.3208|0.3208	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69815|0.69815	-0.5043|-0.5043	4|4	.|.	.|.	.|.	.|.	14.6517|14.6517	0.68803|0.68803	0.0697:0.0:0.9303:0.0|0.0697:0.0:0.9303:0.0	.|.	.|.	.|.	.|.	Y|L	121|96	.|.	.|.	H|S	-|-	1|2	0|0	CSNK1E|CSNK1E	37020100|37020100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.600000|0.600000	0.36913|0.36913	5.285000|5.285000	0.65633|0.65633	1.400000|1.400000	0.46741|0.46741	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.647	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		6	38	0	0	0	0	6	38				
PKDREJ	10343	broad.mit.edu	37	22	46657509	46657509	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:46657509C>G	ENST00000253255.5	-	1	1710	c.1711G>C	c.(1711-1713)Gct>Cct	p.A571P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	571	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTCCTTTAGCTGGATTAATT	0.368																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(1711-1713)GCT>CCT		receptor for egg jelly-like protein precursor							55.0	60.0	58.0					22																	46657509		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657509C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1711G>C	22.37:g.46657509C>G	ENSP00000253255:p.Ala571Pro						p.A571P	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1711	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	571			Extracellular (Potential).|REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.1711G>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728245	0.30593	.	.	ENSG00000130943	ENST00000253255	T	0.70164	-0.46	5.28	-9.74	0.00509	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.772810	0.02793	N	0.122256	T	0.56140	0.1965	L	0.56769	1.78	0.09310	N	1	B	0.16166	0.016	B	0.20767	0.031	T	0.37033	-0.9723	10	0.30854	T	0.27	-1.133	7.6158	0.28156	0.0828:0.1385:0.5728:0.2058	.	571	Q9NTG1	PKDRE_HUMAN	P	571	ENSP00000253255:A571P	ENSP00000253255:A571P	A	-	1	0	PKDREJ	45036173	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-0.375000	0.07475	-1.375000	0.02129	-1.093000	0.02169	GCT		0.368	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	51	0	0	0	0	7	51				
CELSR1	9620	broad.mit.edu	37	22	46780555	46780555	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:46780555G>T	ENST00000262738.3	-	20	6767	c.6768C>A	c.(6766-6768)ttC>ttA	p.F2256L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2256					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGTAAAGTTGAACTTGTCAA	0.522																																						uc003bhw.1		NA																	0				lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(6766-6768)TTC>TTA		cadherin EGF LAG seven-pass G-type receptor 1							50.0	55.0	53.0					22																	46780555		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46780555G>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6768C>A	22.37:g.46780555G>T	ENSP00000262738:p.Phe2256Leu					CELSR1_uc011arc.1_Missense_Mutation_p.F577L	p.F2256L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	20	6768	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2256			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.6768C>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	2.936	-0.219866	0.06061	.	.	ENSG00000075275	ENST00000262738	T	0.09073	3.02	5.08	-4.71	0.03279	Domain of unknown function DUF3497 (1);	1.504390	0.04593	N	0.397162	T	0.02012	0.0063	N	0.00583	-1.355	0.09310	N	0.999992	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.44697	-0.9311	10	0.11182	T	0.66	.	6.9189	0.24376	0.443:0.3391:0.2178:0.0	.	577;2256	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	L	2256	ENSP00000262738:F2256L	ENSP00000262738:F2256L	F	-	3	2	CELSR1	45159219	0.014000	0.17966	0.488000	0.27440	0.174000	0.22865	-1.013000	0.03645	-1.114000	0.02977	0.609000	0.83330	TTC		0.522	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		7	37	1	0	0.000274275	0.000370226	7	37				
SYN2	6854	broad.mit.edu	37	3	12209896	12209896	+	RNA	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:12209896C>T	ENST00000432424.2	+	0	1248							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGGGTGGACACCTGCTCTGAG	0.522																																						uc003bwm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1075-1077)ACC>ATC		synapsin II isoform IIa							101.0	105.0	104.0					3																	12209896		2202	4300	6502			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12209896C>T		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12209896C>T						SYN2_uc003bwl.1_Missense_Mutation_p.T359I|SYN2_uc003bwn.2_Missense_Mutation_p.T33I	p.T359I	NM_133625	NP_598328	Q92777	SYN2_HUMAN			13	1240	+			359					A8MY98	Missense_Mutation	SNP	ENST00000432424.2	37	c.1076C>T		.	.	.	.	.	.	.	.	.	.	C	18.58	3.655169	0.67472	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.05	3.16	0.36331	ATP-grasp fold, subdomain 2 (1);Synapsin, ATP-binding domain (1);	0.134423	0.51477	D	0.000092	T	0.49830	0.1580	M	0.77616	2.38	0.24258	N	0.995295	B;B	0.29270	0.24;0.201	B;B	0.36134	0.218;0.197	T	0.52578	-0.8557	9	0.87932	D	0	-4.8491	7.5236	0.27643	0.0:0.5887:0.3243:0.087	.	359;359	Q92777;Q92777-2	SYN2_HUMAN;.	I	291	.	ENSP00000442512:T291I	T	+	2	0	SYN2	12184896	0.991000	0.36638	0.972000	0.41901	0.982000	0.71751	3.151000	0.50670	1.025000	0.39708	-0.282000	0.10007	ACC		0.522	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		9	20	0	0	0	0	9	20				
DYNC1LI1	51143	broad.mit.edu	37	3	32612233	32612233	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:32612233G>A	ENST00000273130.4	-	1	133	c.30C>T	c.(28-30)ttC>ttT	p.F10F	DYNC1LI1_ENST00000432458.2_Silent_p.F10F	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	10					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GAGAAGAACCGAAGGAGCCGA	0.672																																						uc003cfb.3		NA																	0				ovary(1)	1						c.(28-30)TTC>TTT		dynein, cytoplasmic 1, light intermediate chain							27.0	30.0	29.0					3																	32612233		2201	4299	6500	SO:0001819	synonymous_variant	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32612233G>A	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.30C>T	3.37:g.32612233G>A						DYNC1LI1_uc011axh.1_Silent_p.F10F	p.F10F	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN			1	118	-			10					A2RRG7|Q53HC8|Q53HK7	Silent	SNP	ENST00000273130.4	37	c.30C>T	CCDS2654.1																																																																																				0.672	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		5	21	0	0	0	0	5	21				
SCN11A	11280	broad.mit.edu	37	3	38991702	38991702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:38991702C>T	ENST00000302328.3	-	1	350	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.R51Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R51Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R51Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	51					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGCTGAGGCCGAGGCTGGGG	0.522																																						uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(151-153)CGG>CAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						157.0	155.0	156.0					3																	38991702		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38991702C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.152G>A	3.37:g.38991702C>T	ENSP00000307599:p.Arg51Gln						p.R51Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	1	351	-			51					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.152G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669593	0.47677	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.95980	-3.87;-3.87;-3.82;-3.73	5.41	5.41	0.78517	.	0.197729	0.43416	D	0.000572	D	0.90181	0.6931	L	0.42529	1.33	0.33345	D	0.570373	P	0.49253	0.921	B	0.31869	0.137	D	0.92752	0.6217	10	0.51188	T	0.08	.	10.1725	0.42920	0.0:0.9098:0.0:0.0902	.	51	Q9UI33	SCNBA_HUMAN	Q	51	ENSP00000307599:R51Q;ENSP00000400945:R51Q;ENSP00000416757:R51Q;ENSP00000408028:R51Q	ENSP00000307599:R51Q	R	-	2	0	SCN11A	38966706	0.000000	0.05858	0.830000	0.32933	0.490000	0.33462	0.202000	0.17295	2.536000	0.85505	0.655000	0.94253	CGG		0.522	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		13	157	0	0	0	0	13	157				
XIRP1	165904	broad.mit.edu	37	3	39227860	39227860	+	Missense_Mutation	SNP	C	C	G	rs139499086		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:39227860C>G	ENST00000340369.3	-	2	3305	c.3077G>C	c.(3076-3078)gGa>gCa	p.G1026A	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.G1026A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1026					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTTTCTGTCCAGAGTGACT	0.607																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(3076-3078)GGA>GCA		xin actin-binding repeat containing 1							41.0	41.0	41.0					3																	39227860		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39227860C>G	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3077G>C	3.37:g.39227860C>G	ENSP00000343140:p.Gly1026Ala					XIRP1_uc003cji.2_Missense_Mutation_p.G1026A|XIRP1_uc003cjj.2_Intron	p.G1026A	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3298	-			1026					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3077G>C	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	4.873	0.162204	0.09287	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.04862	3.54;3.91	5.02	-3.12	0.05282	.	0.733633	0.12822	U	0.436396	T	0.04724	0.0128	L	0.54323	1.7	0.09310	N	0.999996	B;B	0.18461	0.028;0.007	B;B	0.16289	0.01;0.015	T	0.41787	-0.9489	10	0.31617	T	0.26	.	0.2352	0.00185	0.2212:0.213:0.237:0.3287	.	1026;1026	Q702N8;Q702N8-2	XIRP1_HUMAN;.	A	1026	ENSP00000379550:G1026A;ENSP00000343140:G1026A	ENSP00000343140:G1026A	G	-	2	0	XIRP1	39202864	0.000000	0.05858	0.014000	0.15608	0.047000	0.14425	0.162000	0.16501	-0.247000	0.09597	-0.181000	0.13052	GGA		0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		14	56	0	0	0	0	14	56				
CTNNB1	1499	broad.mit.edu	37	3	41266590	41266590	+	Silent	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:41266590A>G	ENST00000349496.5	+	4	667	c.387A>G	c.(385-387)tcA>tcG	p.S129S	CTNNB1_ENST00000396183.3_Silent_p.S129S|CTNNB1_ENST00000396185.3_Silent_p.S129S|CTNNB1_ENST00000453024.1_Silent_p.S122S|CTNNB1_ENST00000405570.1_Silent_p.S129S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	129					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H24_M131del(1)|p.I35_K170del(1)|p.E15_I140>V(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTGAACCATCACAGATGCTGA	0.448		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	30	Deletion - In frame(23)|Complex - deletion inframe(7)	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_L139>V(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.D6_K133del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)	liver(24)|stomach(5)|skin(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(385-387)TCA>TCG		beta-catenin	Lithium(DB01356)						155.0	134.0	141.0					3																	41266590		2203	4300	6503	SO:0001819	synonymous_variant	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266590A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.387A>G	3.37:g.41266590A>G						CTNNB1_uc003ckp.2_Silent_p.S129S|CTNNB1_uc003ckq.2_Silent_p.S129S|CTNNB1_uc003ckr.2_Silent_p.S129S|CTNNB1_uc011azf.1_Silent_p.S122S|CTNNB1_uc011azg.1_Silent_p.S57S|uc010hib.1_5'Flank	p.S129S	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	5	543	+			129					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	c.387A>G	CCDS2694.1																																																																																				0.448	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		15	48	0	0	0	0	15	48				
TRAK1	22906	broad.mit.edu	37	3	42229593	42229593	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:42229593C>T	ENST00000327628.5	+	5	937	c.537C>T	c.(535-537)acC>acT	p.T179T	TRAK1_ENST00000341421.3_Silent_p.T121T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.T121T|TRAK1_ENST00000449246.1_Silent_p.T105T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	179	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGTTCTACACCAGCGCTGCGG	0.577																																					GBM(44;195 884 22595 31865 41850)	uc003cky.2		NA																	0				ovary(1)	1						c.(535-537)ACC>ACT		OGT(O-Glc-NAc transferase)-interacting protein							168.0	163.0	165.0					3																	42229593		2203	4300	6503	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42229593C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.537C>T	3.37:g.42229593C>T						TRAK1_uc011azh.1_Silent_p.T179T|TRAK1_uc011azi.1_Silent_p.T179T|TRAK1_uc003ckz.3_Silent_p.T105T|TRAK1_uc011azj.1_Silent_p.T105T|TRAK1_uc003cla.2_Silent_p.T121T	p.T179T	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			5	753	+			179			Potential.|HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.537C>T	CCDS43072.1																																																																																				0.577	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		22	136	0	0	0	0	22	136				
LZTFL1	54585	broad.mit.edu	37	3	45874556	45874556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:45874556C>T	ENST00000296135.6	-	5	616	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	LZTFL1_ENST00000536047.1_Missense_Mutation_p.E131K|LZTFL1_ENST00000539217.1_Missense_Mutation_p.E144K|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	148	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTAGGAGTTCTGCTGTTCCA	0.383																																						uc003cox.1		NA																	0					0						c.(442-444)GAA>AAA		leucine zipper transcription factor-like 1							114.0	111.0	112.0					3																	45874556		2203	4300	6503	SO:0001583	missense	54585							g.chr3:45874556C>T	AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.442G>A	3.37:g.45874556C>T	ENSP00000296135:p.Glu148Lys					LZTFL1_uc003coy.1_Missense_Mutation_p.E131K|LZTFL1_uc011bak.1_RNA	p.E148K	NM_020347	NP_065080	Q9NQ48	LZTL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	5	580	-			148			Potential.		B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	ENST00000296135.6	37	c.442G>A	CCDS2731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.21|17.21	3.332507|3.332507	0.60853|0.60853	.|.	.|.	ENSG00000163818|ENSG00000163818	ENST00000296135;ENST00000536047;ENST00000539217|ENST00000440576	T;T;T|.	0.23552|.	1.9;1.9;1.9|.	5.63|5.63	3.8|3.8	0.43715|0.43715	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72087|0.72087	0.3417|0.3417	M|M	0.79123|0.79123	2.44|2.44	0.58432|0.58432	D|D	0.999996|0.999996	B|.	0.16603|.	0.018|.	B|.	0.15870|.	0.014|.	T|T	0.73014|0.73014	-0.4116|-0.4116	10|5	0.42905|.	T|.	0.14|.	-20.773|-20.773	10.9505|10.9505	0.47325|0.47325	0.0:0.7999:0.1287:0.0714|0.0:0.7999:0.1287:0.0714	.|.	148|.	Q9NQ48|.	LZTL1_HUMAN|.	K|K	148;131;144|105	ENSP00000296135:E148K;ENSP00000439522:E131K;ENSP00000441784:E144K|.	ENSP00000296135:E148K|.	E|R	-|-	1|2	0|0	LZTFL1|LZTFL1	45849560|45849560	1.000000|1.000000	0.71417|0.71417	0.936000|0.936000	0.37596|0.37596	0.994000|0.994000	0.84299|0.84299	5.381000|5.381000	0.66208|0.66208	1.351000|1.351000	0.45789|0.45789	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.383	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257326.3	NM_020347		9	80	0	0	0	0	9	80				
ABHD14A	25864	broad.mit.edu	37	3	52014456	52014456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:52014456C>T	ENST00000273596.3	+	4	513	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	ABHD14A-ACY1_ENST00000463937.1_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000458031.2_Intron|ABHD14A_ENST00000491470.1_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	149						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAGGCAGGGCGGGCAGCGCT	0.637																																						uc003dco.2		NA																	0					0						c.(445-447)CGG>TGG		abhydrolase domain containing 14A							40.0	46.0	44.0					3																	52014456		2203	4300	6503	SO:0001583	missense	25864					cytoplasm|integral to membrane	hydrolase activity	g.chr3:52014456C>T	AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.445C>T	3.37:g.52014456C>T	ENSP00000273596:p.Arg149Trp					ABHD14B_uc003dcn.2_Intron|ACY1_uc011bea.1_Intron	p.R149W	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	555	+			149					Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	c.445C>T	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773789	0.49786	.	.	ENSG00000248487	ENST00000497864;ENST00000494478;ENST00000273596;ENST00000538216	T;T;T	0.37584	1.28;1.19;1.89	5.69	3.88	0.44766	.	.	.	.	.	T	0.55289	0.1911	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.54892	-0.8225	9	0.48119	T	0.1	.	13.216	0.59861	0.2904:0.7096:0.0:0.0	.	149	Q9BUJ0	ABHEA_HUMAN	W	214;144;149;107	ENSP00000418242:R214W;ENSP00000420475:R144W;ENSP00000273596:R149W	ENSP00000273596:R149W	R	+	1	2	ABHD14A	51989496	0.990000	0.36364	0.994000	0.49952	0.623000	0.37688	2.192000	0.42649	0.732000	0.32470	0.563000	0.77884	CGG		0.637	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407		25	45	0	0	0	0	25	45				
ROBO1	6091	broad.mit.edu	37	3	78696802	78696802	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:78696802G>C	ENST00000464233.1	-	20	2929	c.2816C>G	c.(2815-2817)cCg>cGg	p.P939R	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000436010.2_Missense_Mutation_p.P900R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTAAAAGACGGGACTGAAAA	0.343																																						uc003dqe.2		NA																	0				large_intestine(2)	2						c.(2815-2817)CCG>CGG		roundabout 1 isoform a							245.0	237.0	240.0					3																	78696802		1829	4094	5923	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78696802G>C	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2816C>G	3.37:g.78696802G>C	ENSP00000420321:p.Pro939Arg					ROBO1_uc003dqb.2_Missense_Mutation_p.P900R|ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Intron|ROBO1_uc010hoh.2_Missense_Mutation_p.P131R|ROBO1_uc011bgl.1_Missense_Mutation_p.P511R	p.P939R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	20	3024	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	939			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2816C>G	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149329	0.78001	.	.	ENSG00000169855	ENST00000436010;ENST00000464233;ENST00000398414	T;T	0.61040	0.17;0.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.91635	0.999;0.957;0.994	T	0.68265	-0.5454	9	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	903;939;900	Q9Y6N7-3;Q9Y6N7;Q9Y6N7-4	.;ROBO1_HUMAN;.	R	900;939;943	ENSP00000406043:P900R;ENSP00000420321:P939R	.	P	-	2	0	ROBO1	78779492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.585000	0.82584	2.821000	0.97095	0.555000	0.69702	CCG		0.343	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		61	232	0	0	0	0	61	232				
CFAP44	55779	broad.mit.edu	37	3	113152421	113152421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:113152421C>G	ENST00000295868.2	-	2	253	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	WDR52_ENST00000393845.2_Missense_Mutation_p.E31Q|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CATCTTGATTCTGATTTAGAA	0.313																																						uc003eae.1		NA																	0				central_nervous_system(1)	1						c.(91-93)GAA>CAA		WD repeat domain 52 isoform 2							106.0	105.0	106.0					3																	113152421		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113152421C>G																												ENST00000295868.2:c.91G>C	3.37:g.113152421C>G	ENSP00000295868:p.Glu31Gln						p.E31Q	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			2	137	-			31						Missense_Mutation	SNP	ENST00000295868.2	37	c.91G>C	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	1.796	-0.478375	0.04414	.	.	ENSG00000206530	ENST00000393845;ENST00000295868;ENST00000473143	T;T;T	0.50277	2.8;0.89;0.75	3.39	0.448	0.16614	.	.	.	.	.	T	0.25419	0.0618	N	0.19112	0.55	0.09310	N	1	B	0.22604	0.072	B	0.22601	0.04	T	0.19031	-1.0318	9	0.22706	T	0.39	.	1.8704	0.03207	0.2105:0.4644:0.2048:0.1203	.	31	Q96MT7	WDR52_HUMAN	Q	31	ENSP00000377428:E31Q;ENSP00000295868:E31Q;ENSP00000419671:E31Q	ENSP00000295868:E31Q	E	-	1	0	WDR52	114635111	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	0.192000	0.17096	0.071000	0.16664	0.650000	0.86243	GAA		0.313	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			17	65	0	0	0	0	17	65				
RABL3	285282	broad.mit.edu	37	3	120413005	120413005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:120413005C>G	ENST00000273375.3	-	6	630	c.601G>C	c.(601-603)Gat>Cat	p.D201H	RABL3_ENST00000483733.1_Intron|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	201	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ATTACCTTATCAAAAAACCTA	0.299																																						uc003edx.2		NA																	0					0						c.(601-603)GAT>CAT		RAB, member of RAS oncogene family-like 3							101.0	105.0	104.0					3																	120413005		2203	4296	6499	SO:0001583	missense	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120413005C>G	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.601G>C	3.37:g.120413005C>G	ENSP00000273375:p.Asp201His						p.D201H	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	6	631	-			201			Small GTPase-like.		Q8WUD3	Missense_Mutation	SNP	ENST00000273375.3	37	c.601G>C	CCDS3001.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658552	0.88154	.	.	ENSG00000144840	ENST00000273375	T	0.76709	-1.04	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88983	0.6586	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89701	0.3905	10	0.62326	D	0.03	-16.1457	16.9921	0.86356	0.0:1.0:0.0:0.0	.	201	Q5HYI8	RABL3_HUMAN	H	201	ENSP00000273375:D201H	ENSP00000273375:D201H	D	-	1	0	RABL3	121895695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.838000	0.75359	2.692000	0.91855	0.655000	0.94253	GAT		0.299	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		33	95	0	0	0	0	33	95				
DIRC2	84925	broad.mit.edu	37	3	122514336	122514336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:122514336C>G	ENST00000261038.5	+	1	695	c.297C>G	c.(295-297)atC>atG	p.I99M	HSPBAP1_ENST00000465044.1_5'Flank|HSPBAP1_ENST00000306103.2_5'Flank|HSPBAP1_ENST00000383659.1_5'Flank	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	99					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGGGGCCCATCGGCTTCCTGC	0.692																																						uc003efw.3		NA																	0					0						c.(295-297)ATC>ATG		disrupted in renal carcinoma 2							21.0	23.0	22.0					3																	122514336		2203	4299	6502	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122514336C>G	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.297C>G	3.37:g.122514336C>G	ENSP00000261038:p.Ile99Met					DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_Translation_Start_Site|HSPBAP1_uc003efu.1_5'Flank|HSPBAP1_uc003efv.1_5'Flank	p.I99M	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	1	436	+			99			Helical; (Potential).		A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.297C>G	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979066	0.74360	.	.	ENSG00000138463	ENST00000261038	T	0.61392	0.11	4.5	0.378	0.16204	Major facilitator superfamily domain, general substrate transporter (1);	0.264480	0.37012	N	0.002282	T	0.66287	0.2774	M	0.71206	2.165	0.41705	D	0.989423	D	0.76494	0.999	D	0.68192	0.956	T	0.64011	-0.6507	10	0.87932	D	0	.	4.4297	0.11522	0.3163:0.5088:0.0:0.1749	.	99	Q96SL1	DIRC2_HUMAN	M	99	ENSP00000261038:I99M	ENSP00000261038:I99M	I	+	3	3	DIRC2	123997026	0.323000	0.24643	1.000000	0.80357	0.996000	0.88848	-0.579000	0.05834	0.115000	0.18071	0.455000	0.32223	ATC		0.692	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		5	23	0	0	0	0	5	23				
UBA5	79876	broad.mit.edu	37	3	132387716	132387716	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:132387716T>A	ENST00000356232.4	+	4	1424	c.352T>A	c.(352-354)Ttc>Atc	p.F118I	UBA5_ENST00000494238.2_Missense_Mutation_p.F62I|UBA5_ENST00000473651.1_Missense_Mutation_p.F118I|UBA5_ENST00000264991.4_Missense_Mutation_p.F62I|UBA5_ENST00000493720.2_Missense_Mutation_p.F118I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	118					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TAGACTTTTCTTCCAACCTCA	0.338																																						uc003epa.3		NA																	0				kidney(1)	1						c.(352-354)TTC>ATC		ubiquitin-activating enzyme 5 isoform 1							130.0	129.0	129.0					3																	132387716		2203	4298	6501	SO:0001583	missense	79876				protein ufmylation	aggresome|cytoplasm|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity	g.chr3:132387716T>A	AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.352T>A	3.37:g.132387716T>A	ENSP00000348565:p.Phe118Ile					NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.2_Missense_Mutation_p.F62I|UBA5_uc010htt.2_Missense_Mutation_p.F118I|UBA5_uc003epb.3_Missense_Mutation_p.F62I	p.F118I	NM_024818	NP_079094	Q9GZZ9	UBA5_HUMAN			4	594	+			118					A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	c.352T>A	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	T	35	5.578459	0.96565	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000468022;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.62	5.62	0.85841	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.82923	2.615	0.80722	D	1	D;D	0.69078	0.993;0.997	D;P	0.63703	0.917;0.873	T	0.57112	-0.7867	10	0.30078	T	0.28	-10.7595	15.837	0.78805	0.0:0.0:0.0:1.0	.	118;118	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	I	62;118;118;62;118;62;28;62	ENSP00000264991:F62I;ENSP00000348565:F118I;ENSP00000417879:F118I;ENSP00000418569:F62I;ENSP00000424984:F118I;ENSP00000418807:F62I;ENSP00000420055:F28I;ENSP00000417905:F62I	ENSP00000264991:F62I	F	+	1	0	UBA5	133870406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.977000	0.88081	2.140000	0.66376	0.460000	0.39030	TTC		0.338	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818		30	95	0	0	0	0	30	95				
PPP2R3A	5523	broad.mit.edu	37	3	135720623	135720623	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:135720623C>A	ENST00000264977.3	+	2	900	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	95					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACAGGCATACCCAGGGTCAA	0.423																																						uc003eqv.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(283-285)CCC>ACC		protein phosphatase 2, regulatory subunit B'',							48.0	47.0	47.0					3																	135720623		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135720623C>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.283C>A	3.37:g.135720623C>A	ENSP00000264977:p.Pro95Thr					PPP2R3A_uc011blz.1_Intron	p.P95T	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	848	+			95					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.283C>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997673	0.35226	.	.	ENSG00000073711	ENST00000264977	T	0.13538	2.58	5.79	4.87	0.63330	.	0.498052	0.21268	N	0.077379	T	0.14227	0.0344	L	0.50333	1.59	0.80722	D	1	P	0.46706	0.883	B	0.41571	0.36	T	0.00557	-1.1672	10	0.87932	D	0	.	9.0043	0.36102	0.0:0.7735:0.1497:0.0768	.	95	Q06190	P2R3A_HUMAN	T	95	ENSP00000264977:P95T	ENSP00000264977:P95T	P	+	1	0	PPP2R3A	137203313	0.075000	0.21258	0.726000	0.30738	0.994000	0.84299	1.095000	0.30964	2.737000	0.93849	0.643000	0.83706	CCC		0.423	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		9	45	1	0	7.48e-07	1.07e-06	9	45				
RASA2	5922	broad.mit.edu	37	3	141292835	141292835	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:141292835C>G	ENST00000452898.1	+	14	1444	c.1409C>G	c.(1408-1410)tCa>tGa	p.S470*	RASA2_ENST00000286364.3_Nonsense_Mutation_p.S470*	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	470	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATTGTAAAATCAAGTATGAGC	0.348																																						uc003etz.1		NA																	0				ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(1408-1410)TCA>TGA		RAS p21 protein activator 2							90.0	88.0	88.0					3																	141292835		2203	4297	6500	SO:0001587	stop_gained	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141292835C>G	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1409C>G	3.37:g.141292835C>G	ENSP00000391677:p.Ser470*					RASA2_uc010huq.1_Nonsense_Mutation_p.S470*|RASA2_uc003eua.1_Nonsense_Mutation_p.S470*|RASA2_uc011bnc.1_Nonsense_Mutation_p.S62*	p.S470*	NM_006506	NP_006497	Q15283	RASA2_HUMAN			14	1409	+			470			Ras-GAP.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Nonsense_Mutation	SNP	ENST00000452898.1	37	c.1409C>G		.	.	.	.	.	.	.	.	.	.	C	38	6.792200	0.97841	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7554	0.96287	0.0:1.0:0.0:0.0	.	.	.	.	X	470;470;62	.	ENSP00000286364:S470X	S	+	2	0	RASA2	142775525	1.000000	0.71417	0.985000	0.45067	0.989000	0.77384	7.487000	0.81328	2.665000	0.90641	0.563000	0.77884	TCA		0.348	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		7	36	0	0	0	0	7	36				
EIF4G1	1981	broad.mit.edu	37	3	184039136	184039136	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:184039136C>T	ENST00000346169.2	+	10	1035	c.764C>T	c.(763-765)tCa>tTa	p.S255L	EIF4G1_ENST00000424196.1_Missense_Mutation_p.S262L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S168L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S59L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S91L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S262L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S255L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S215L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S262L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.S59L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S215L|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S255L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S168L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S91L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	255					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATAGCCCTTCAGAATCCCAG	0.577																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(763-765)TCA>TTA		eukaryotic translation initiation factor 4							85.0	86.0	86.0					3																	184039136		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039136C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.764C>T	3.37:g.184039136C>T	ENSP00000316879:p.Ser255Leu					EIF4G1_uc003fno.1_Missense_Mutation_p.S196L|EIF4G1_uc010hxw.1_Missense_Mutation_p.S91L|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.S168L|EIF4G1_uc003fnr.2_Missense_Mutation_p.S91L|EIF4G1_uc010hxx.2_Missense_Mutation_p.S262L|EIF4G1_uc003fns.2_Missense_Mutation_p.S215L|EIF4G1_uc010hxy.2_Missense_Mutation_p.S262L|EIF4G1_uc003fnv.3_Missense_Mutation_p.S255L|EIF4G1_uc003fnu.3_Missense_Mutation_p.S255L|EIF4G1_uc003fnw.2_Missense_Mutation_p.S262L|EIF4G1_uc003fnx.2_Missense_Mutation_p.S59L|EIF4G1_uc003fny.3_Missense_Mutation_p.S59L	p.S255L	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	962	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		255					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.764C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550949	0.45383	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000444134;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000428387;ENST00000434061;ENST00000427607;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51071	3.91;3.9;3.82;0.77;2.8;2.8;3.9;2.97;3.72;3.9;3.83;3.9;3.91;3.9;3.9;2.36;3.72;0.77;3.72;0.72;1.21;3.72	5.39	4.52	0.55395	.	1.177410	0.06188	N	0.680778	T	0.37376	0.1001	N	0.19112	0.55	0.24457	N	0.994454	B;B;B;B	0.20052	0.041;0.041;0.041;0.0	B;B;B;B	0.21360	0.034;0.034;0.034;0.001	T	0.25537	-1.0129	10	0.38643	T	0.18	-7.974	10.9967	0.47580	0.0:0.9142:0.0:0.0858	.	262;255;255;262	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	L	255;215;168;59;255;262;262;196;91;262;168;255;255;262;215;91;91;59;59;59;59;59	ENSP00000316879:S255L;ENSP00000391935:S215L;ENSP00000376320:S168L;ENSP00000407244:S59L;ENSP00000391412:S255L;ENSP00000413159:S262L;ENSP00000371767:S262L;ENSP00000403269:S196L;ENSP00000317600:S91L;ENSP00000338020:S262L;ENSP00000407682:S168L;ENSP00000343450:S255L;ENSP00000323737:S255L;ENSP00000416255:S262L;ENSP00000395974:S215L;ENSP00000398145:S91L;ENSP00000399858:S91L;ENSP00000411707:S59L;ENSP00000411826:S59L;ENSP00000409545:S59L;ENSP00000399969:S59L;ENSP00000404754:S59L	ENSP00000323737:S255L	S	+	2	0	EIF4G1	185521830	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.924000	0.56476	1.502000	0.48669	0.655000	0.94253	TCA		0.577	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		23	99	0	0	0	0	23	99				
HS3ST1	9957	broad.mit.edu	37	4	11400946	11400946	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:11400946G>A	ENST00000002596.5	-	2	1858	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	228					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)	p.I228I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGACCTTTTGGATCTCAGGGA	0.557																																						uc003gmq.2		NA																	1	Substitution - coding silent(1)		skin(1)	skin(1)	1						c.(682-684)ATC>ATT		heparan sulfate D-glucosaminyl							36.0	37.0	37.0					4																	11400946		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11400946G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.684C>T	4.37:g.11400946G>A							p.I228I	NM_005114	NP_005105	O14792	HS3S1_HUMAN			2	1007	-			228					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.684C>T	CCDS3408.1																																																																																				0.557	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		6	28	0	0	0	0	6	28				
ATP8A1	10396	broad.mit.edu	37	4	42416643	42416643	+	Splice_Site	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:42416643C>T	ENST00000381668.5	-	36	3629		c.e36+1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAAATACTCACGGAGCAGATT	0.388																																						uc003gwr.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.e36+1		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						107.0	107.0	107.0					4																	42416643		2203	4300	6503	SO:0001630	splice_region_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42416643C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3397+1G>A	4.37:g.42416643C>T						ATP8A1_uc003gwq.2_Splice_Site_p.H359_splice|ATP8A1_uc003gws.2_Splice_Site_p.H1118_splice	p.H1133_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			36	3629	-								Q32M35|Q32M36|Q4W5J7|Q4W5P2	Splice_Site	SNP	ENST00000381668.5	37	c.3397_splice	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799792	0.70567	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5635	0.95382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP8A1	42111400	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.933000	0.75874	2.636000	0.89361	0.557000	0.71058	.		0.388	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	Intron	24	82	0	0	0	0	24	82				
LRRC66	339977	broad.mit.edu	37	4	52860807	52860807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:52860807G>C	ENST00000343457.3	-	4	2387	c.2381C>G	c.(2380-2382)tCt>tGt	p.S794C		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	794						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCAGTGTCAGAGGCATTTTC	0.473																																						uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2380-2382)TCT>TGT		leucine rich repeat containing 66							47.0	48.0	48.0					4																	52860807		1882	4103	5985	SO:0001583	missense	339977					integral to membrane		g.chr4:52860807G>C	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2381C>G	4.37:g.52860807G>C	ENSP00000341944:p.Ser794Cys						p.S794C	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2394	-			794						Missense_Mutation	SNP	ENST00000343457.3	37	c.2381C>G	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521132	0.44866	.	.	ENSG00000188993	ENST00000343457	T	0.37058	1.22	4.52	3.6	0.41247	.	0.296515	0.24820	N	0.035334	T	0.45074	0.1324	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.75484	0.986	T	0.13980	-1.0489	10	0.87932	D	0	-6.5511	9.9364	0.41554	0.0:0.2069:0.7931:0.0	.	794	Q68CR7	LRC66_HUMAN	C	794	ENSP00000341944:S794C	ENSP00000341944:S794C	S	-	2	0	LRRC66	52555564	0.048000	0.20356	0.013000	0.15412	0.003000	0.03518	2.782000	0.47758	2.483000	0.83821	0.655000	0.94253	TCT		0.473	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		4	32	0	0	0	0	4	32				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					uc003hej.2		NA																	1	Substitution - coding silent(1)		kidney(1)	skin(1)	1						c.(880-882)GAA>GAG		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_uc010ihr.2_Silent_p.E294E	p.E294E	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		4	99	0	0	0	0	4	99				
WDFY3	23001	broad.mit.edu	37	4	85701392	85701392	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:85701392C>A	ENST00000295888.4	-	26	4641	c.4234G>T	c.(4234-4236)Gca>Tca	p.A1412S	WDFY3_ENST00000322366.6_Missense_Mutation_p.A1412S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1412					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGATGGCTGCAGCTCCACCA	0.478																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(4234-4236)GCA>TCA		WD repeat and FYVE domain containing 3 isoform							105.0	97.0	100.0					4																	85701392		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85701392C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4234G>T	4.37:g.85701392C>A	ENSP00000295888:p.Ala1412Ser						p.A1412S	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	26	4642	-		Hepatocellular(203;0.114)	1412					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.4234G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846855	0.51164	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.46451	0.87;0.87	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.40543	1.245	0.80722	D	1	B	0.27656	0.184	B	0.20184	0.028	T	0.14337	-1.0476	10	0.12430	T	0.62	.	19.8304	0.96632	0.0:1.0:0.0:0.0	.	1412	Q8IZQ1	WDFY3_HUMAN	S	1412	ENSP00000318466:A1412S;ENSP00000295888:A1412S	ENSP00000295888:A1412S	A	-	1	0	WDFY3	85920416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.743000	0.85020	2.775000	0.95449	0.585000	0.79938	GCA		0.478	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		29	61	1	0	2.48e-08	3.59e-08	29	61				
TBC1D9	23158	broad.mit.edu	37	4	141543569	141543569	+	Missense_Mutation	SNP	T	T	A	rs201117117	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:141543569T>A	ENST00000442267.2	-	21	3655	c.3581A>T	c.(3580-3582)cAg>cTg	p.Q1194L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1194							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGCCGTGCCCTGGCCGCTCCG	0.667																																						uc010ioj.2		NA																	0				ovary(1)	1						c.(3580-3582)CAG>CTG		TBC1 domain family, member 9 (with GRAM domain)							29.0	35.0	33.0					4																	141543569		2096	4198	6294	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543569T>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3581A>T	4.37:g.141543569T>A	ENSP00000411197:p.Gln1194Leu						p.Q1194L	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			21	3853	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1194					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3581A>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.755054	0.31046	.	.	ENSG00000109436	ENST00000442267	T	0.30714	1.52	5.01	3.88	0.44766	.	0.423141	0.26321	N	0.025056	T	0.15003	0.0362	N	0.08118	0	0.34087	D	0.660281	B	0.13145	0.007	B	0.11329	0.006	T	0.13072	-1.0523	10	0.31617	T	0.26	.	9.353	0.38149	0.0:0.1183:0.0:0.8817	.	1194	Q6ZT07	TBCD9_HUMAN	L	1194	ENSP00000411197:Q1194L	ENSP00000411197:Q1194L	Q	-	2	0	TBC1D9	141763019	0.947000	0.32204	0.998000	0.56505	0.971000	0.66376	1.279000	0.33191	1.881000	0.54492	0.533000	0.62120	CAG		0.667	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		6	32	0	0	0	0	6	32				
LRBA	987	broad.mit.edu	37	4	151271210	151271210	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:151271210C>G	ENST00000357115.3	-	49	7572	c.7329G>C	c.(7327-7329)gtG>gtC	p.V2443V	LRBA_ENST00000510413.1_Silent_p.V2432V|LRBA_ENST00000507224.1_Silent_p.V2432V|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000535741.1_Silent_p.V2432V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2443	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGTAATAGAACACATTGAGGG	0.413																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(7327-7329)GTG>GTC		LPS-responsive vesicle trafficking, beach and							117.0	105.0	109.0					4																	151271210		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151271210C>G	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7329G>C	4.37:g.151271210C>G						LRBA_uc010ipi.2_Intron|LRBA_uc003ils.3_Silent_p.V333V|LRBA_uc003ilt.3_Silent_p.V1091V|LRBA_uc003ilu.3_Silent_p.V2432V	p.V2443V	NM_006726	NP_006717	P50851	LRBA_HUMAN			49	7803	-	all_hematologic(180;0.151)		2443			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.7329G>C	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	7.853	0.724438	0.15439	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.47	-4.13	0.03904	.	.	.	.	.	T	0.47266	0.1436	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45190	-0.9278	4	.	.	.	.	5.3493	0.16026	0.0951:0.241:0.094:0.5699	.	.	.	.	S	1085	.	.	C	-	2	0	LRBA	151490660	0.236000	0.23804	0.975000	0.42487	0.983000	0.72400	-0.644000	0.05415	-0.497000	0.06641	-0.373000	0.07131	TGT		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			8	34	0	0	0	0	8	34				
ASIC5	51802	broad.mit.edu	37	4	156764841	156764841	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:156764841G>T	ENST00000537611.2	-	5	899	c.853C>A	c.(853-855)Caa>Aaa	p.Q285K		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	285					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										ACCTTCACTTGGCGGATGGTT	0.443																																						uc003ipe.1		NA																	0				ovary(2)|skin(1)	3						c.(853-855)CAA>AAA		amiloride-sensitive cation channel 5,							131.0	115.0	121.0					4																	156764841		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156764841G>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.853C>A	4.37:g.156764841G>T	ENSP00000442477:p.Gln285Lys						p.Q285K	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)	5	900	-	all_hematologic(180;0.24)	Renal(120;0.0458)	285			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000537611.2	37	c.853C>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.307960	0.40895	.	.	ENSG00000256394	ENST00000537611	T	0.62232	0.04	4.58	4.58	0.56647	.	0.419045	0.22355	N	0.061156	T	0.56587	0.1995	L	0.46819	1.47	0.40772	D	0.983095	B	0.26577	0.153	B	0.34346	0.18	T	0.53136	-0.8481	10	0.02654	T	1	-16.9089	18.2369	0.89952	0.0:0.0:1.0:0.0	.	285	Q9NY37	ACCN5_HUMAN	K	285	ENSP00000442477:Q285K	ENSP00000264432:Q285K	Q	-	1	0	ACCN5	156984291	1.000000	0.71417	0.996000	0.52242	0.719000	0.41307	5.828000	0.69307	2.492000	0.84095	0.591000	0.81541	CAA		0.443	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			19	71	1	0	1.38e-21	2.08e-21	19	71				
SORBS2	8470	broad.mit.edu	37	4	186545417	186545417	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:186545417T>C	ENST00000284776.7	-	13	1663	c.1154A>G	c.(1153-1155)gAc>gGc	p.D385G	SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.D289G|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.D385G|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.D485G|SORBS2_ENST00000393528.3_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	385					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGATCGTCACAGCTCCG	0.532																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(1153-1155)GAC>GGC		sorbin and SH3 domain containing 2 isoform 2							68.0	65.0	66.0					4																	186545417		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186545417T>C		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1154A>G	4.37:g.186545417T>C	ENSP00000284776:p.Asp385Gly					SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.D485G|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.D289G|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.D499G|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.D385G	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	13	2012	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	385					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.1154A>G	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.288574	0.40494	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.50001	0.85;0.85;0.76;0.84	5.86	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.79784	0.993;0.992;0.993	T	0.65713	-0.6101	10	0.87932	D	0	-23.0948	12.4171	0.55500	0.126:0.0:0.0:0.8739	.	289;485;385	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	G	385;385;289;485	ENSP00000284776:D385G;ENSP00000411764:D385G;ENSP00000397482:D289G;ENSP00000347852:D485G	ENSP00000284776:D385G	D	-	2	0	SORBS2	186782411	1.000000	0.71417	0.041000	0.18516	0.007000	0.05969	7.838000	0.86804	1.031000	0.39867	-0.502000	0.04539	GAC		0.532	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		12	36	0	0	0	0	12	36				
MAP3K1	4214	broad.mit.edu	37	5	56152466	56152466	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:56152466C>T	ENST00000399503.3	+	2	522	c.522C>T	c.(520-522)caC>caT	p.H174H	AC008937.2_ENST00000415589.1_RNA|snoU13_ENST00000459264.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	174					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAGGGTTGCACAAGATGGATG	0.403																																						uc003jqw.3		NA																	0				ovary(1)|skin(1)	2						c.(520-522)CAC>CAT		mitogen-activated protein kinase kinase kinase							106.0	103.0	104.0					5																	56152466		1879	4106	5985	SO:0001819	synonymous_variant	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56152466C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.522C>T	5.37:g.56152466C>T							p.H174H	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	2	1023	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	174						Silent	SNP	ENST00000399503.3	37	c.522C>T	CCDS43318.1																																																																																				0.403	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		9	62	0	0	0	0	9	62				
MAST4	375449	broad.mit.edu	37	5	66409957	66409957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:66409957G>C	ENST00000403625.2	+	12	1796	c.1501G>C	c.(1501-1503)Gaa>Caa	p.E501Q	MAST4_ENST00000405643.1_Missense_Mutation_p.E322Q|MAST4_ENST00000404260.3_Missense_Mutation_p.E504Q|MAST4_ENST00000261569.7_Missense_Mutation_p.E307Q|MAST4_ENST00000403666.1_Missense_Mutation_p.E312Q|MAST4_ENST00000490016.2_Missense_Mutation_p.E312Q	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	504						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGAAGCAGCAGAAGGCCATGC	0.438																																						uc003jut.1		NA																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(934-936)GAA>CAA		microtubule associated serine/threonine kinase							101.0	101.0	101.0					5																	66409957		1885	4114	5999	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66409957G>C	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.1501G>C	5.37:g.66409957G>C	ENSP00000385727:p.Glu501Gln					MAST4_uc003jus.2_Missense_Mutation_p.E312Q|MAST4_uc003juu.1_Missense_Mutation_p.E322Q|MAST4_uc011cra.1_Missense_Mutation_p.E295Q|MAST4_uc003juv.2_Missense_Mutation_p.E307Q|MAST4_uc003juw.2_Missense_Mutation_p.E307Q	p.E312Q	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	11	1002	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	504					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.934G>C	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839442	0.91117	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000490016;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.93	5.06	0.68205	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.096175	0.64402	D	0.000001	T	0.70762	0.3261	M	0.88775	2.98	0.46317	D	0.998987	D;D;D;D;D	0.89917	0.983;1.0;1.0;0.992;1.0	D;D;D;D;D	0.97110	0.98;1.0;0.997;0.979;0.992	T	0.78339	-0.2242	10	0.87932	D	0	-23.7724	16.6212	0.84931	0.0:0.0:0.869:0.131	.	322;504;307;312;312	E7EWQ5;O15021;O15021-2;O15021-3;D6RAK1	.;MAST4_HUMAN;.;.;.	Q	504;501;312;312;322;322;307;307	ENSP00000385048:E504Q;ENSP00000385727:E501Q;ENSP00000421739:E312Q;ENSP00000384313:E312Q;ENSP00000384099:E322Q;ENSP00000261569:E307Q	ENSP00000261569:E307Q	E	+	1	0	MAST4	66445713	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.869000	0.99810	1.517000	0.48917	-0.169000	0.13324	GAA		0.438	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			14	38	0	0	0	0	14	38				
FAM169A	26049	broad.mit.edu	37	5	74077286	74077286	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:74077286C>G	ENST00000389156.4	-	13	2102	c.2012G>C	c.(2011-2013)tGa>tCa	p.*671S	FAM169A_ENST00000380515.3_3'UTR|RNU6-1330P_ENST00000362775.1_RNA|FAM169A_ENST00000510496.1_Nonstop_Mutation_p.*611S	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	0						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CTTCTTCCTTCAGGTCAGCTT	0.388																																						uc003kdm.2		NA																	0					0						c.(2011-2013)TGA>TCA		hypothetical protein LOC26049							116.0	112.0	113.0					5																	74077286		1835	4098	5933	SO:0001578	stop_lost	26049							g.chr5:74077286C>G		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.2012G>C	5.37:g.74077286C>G						FAM169A_uc010izm.2_Nonstop_Mutation_p.*611S|FAM169A_uc003kdl.2_Nonstop_Mutation_p.*489S	p.*671S	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN			13	2055	-			671					A8K1T9|Q6MZT0|Q9H989	Nonstop_Mutation	SNP	ENST00000389156.4	37	c.2012G>C	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	C	7.375	0.627700	0.14257	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	.	.	.	5.85	3.11	0.35812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4615	0.32931	0.0:0.6684:0.0:0.3316	.	.	.	.	S	671;611	.	.	X	-	2	2	FAM169A	74113042	0.999000	0.42202	0.961000	0.40146	0.248000	0.25809	1.480000	0.35464	1.488000	0.48433	0.557000	0.71058	TGA		0.388	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			29	120	0	0	0	0	29	120				
COL4A3BP	10087	broad.mit.edu	37	5	74722220	74722220	+	Silent	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:74722220A>T	ENST00000405807.4	-	4	853	c.432T>A	c.(430-432)tcT>tcA	p.S144S	COL4A3BP_ENST00000261415.7_Silent_p.S144S|COL4A3BP_ENST00000380494.5_Silent_p.S272S	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	144					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGGATGTTGCAGAGTAGCCAC	0.398																																						uc011csu.1		NA																	0				skin(1)	1						c.(430-432)TCT>TCA		alpha 3 type IV collagen binding protein isoform							103.0	95.0	98.0					5																	74722220		2203	4300	6503	SO:0001819	synonymous_variant	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74722220A>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.432T>A	5.37:g.74722220A>T						COL4A3BP_uc003kds.2_Silent_p.S144S|COL4A3BP_uc003kdt.2_Silent_p.S272S|COL4A3BP_uc003kdu.2_Silent_p.S144S	p.S144S	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	4	854	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	144					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Silent	SNP	ENST00000405807.4	37	c.432T>A	CCDS4028.1																																																																																				0.398	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		6	82	0	0	0	0	6	82				
CATSPER3	347732	broad.mit.edu	37	5	134305780	134305780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:134305780G>C	ENST00000282611.6	+	2	336	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	84					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGACTTCTTGAGGTAAGCAG	0.333																																						uc003lag.2		NA																	0				ovary(1)	1						c.(250-252)GAG>CAG		cation channel, sperm associated 3							183.0	169.0	174.0					5																	134305780		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134305780G>C	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.250G>C	5.37:g.134305780G>C	ENSP00000282611:p.Glu84Gln						p.E84Q	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	318	+			84			Helical; Name=Segment S2; (Potential).		Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.250G>C	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635446	0.47049	.	.	ENSG00000152705	ENST00000282611	D	0.97480	-4.4	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000044	D	0.97102	0.9053	L	0.34521	1.04	0.35992	D	0.836792	D	0.89917	1.0	D	0.80764	0.994	D	0.99494	1.0951	10	0.56958	D	0.05	-31.2905	15.3949	0.74784	0.0:0.0:1.0:0.0	.	84	Q86XQ3	CTSR3_HUMAN	Q	84	ENSP00000282611:E84Q	ENSP00000282611:E84Q	E	+	1	0	CATSPER3	134333679	1.000000	0.71417	0.976000	0.42696	0.300000	0.27592	4.640000	0.61368	2.792000	0.96026	0.558000	0.71614	GAG		0.333	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		15	81	0	0	0	0	15	81				
ANKHD1	54882	broad.mit.edu	37	5	139825539	139825539	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:139825539C>G	ENST00000360839.2	+	6	1280	c.1126C>G	c.(1126-1128)Cta>Gta	p.L376V	ANKHD1_ENST00000394723.3_Missense_Mutation_p.L376V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L376V|ANKHD1_ENST00000394722.3_Missense_Mutation_p.L365V|ANKHD1_ENST00000297183.6_Missense_Mutation_p.L376V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	376						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAGTGCTCTAACACTTGC	0.348																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(1126-1128)CTA>GTA		ANKHD1-EIF4EBP3 protein							94.0	88.0	90.0					5																	139825539		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139825539C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1126C>G	5.37:g.139825539C>G	ENSP00000354085:p.Leu376Val					ANKHD1_uc003lfq.1_Missense_Mutation_p.L376V|ANKHD1_uc003lfr.2_Missense_Mutation_p.L376V|ANKHD1_uc003lfp.2_Missense_Mutation_p.L365V|ANKHD1_uc003lfo.2_Missense_Mutation_p.L376V|ANKHD1_uc010jfk.2_Missense_Mutation_p.L376V	p.L376V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1250	+			376					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.1126C>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932579	0.92458	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	D;D;T;T;T;T;D	0.87729	-2.29;-2.29;-0.89;-0.89;-1.29;-0.89;-2.29	5.44	5.44	0.79542	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94624	0.8267	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.997;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.994;0.98;0.999	D	0.94992	0.8135	10	0.87932	D	0	.	19.6207	0.95654	0.0:1.0:0.0:0.0	.	376;376;376;365;376	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	V	376;390;376;376;376;376;362;365;376	ENSP00000354085:L376V;ENSP00000297183:L376V;ENSP00000394489:L376V;ENSP00000378212:L376V;ENSP00000421069:L362V;ENSP00000378211:L365V;ENSP00000432016:L376V	ENSP00000432016:L376V	L	+	1	2	ANKHD1-EIF4EBP3;ANKHD1	139805723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.027000	0.70881	2.707000	0.92482	0.563000	0.77884	CTA		0.348	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	21	0	0	0	0	7	21				
PCDHB4	56131	broad.mit.edu	37	5	140502282	140502282	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:140502282C>A	ENST00000194152.1	+	1	702	c.702C>A	c.(700-702)atC>atA	p.I234I	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	234	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I234I(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATGGACATCAATGACAATG	0.527																																						uc003lip.1		NA																	1	Substitution - coding silent(1)		breast(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(700-702)ATC>ATA		protocadherin beta 4 precursor							129.0	121.0	124.0					5																	140502282		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502282C>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.702C>A	5.37:g.140502282C>A							p.I234I	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	702	+			234			Cadherin 2.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.702C>A	CCDS4246.1																																																																																				0.527	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		23	105	1	0	3.62e-10	5.33e-10	23	105				
PCDHGB3	56102	broad.mit.edu	37	5	140779967	140779967	+	Intron	SNP	C	C	T	rs375490385		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:140779967C>T	ENST00000576222.1	+	1	2546				PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGAAAGACGGAGTTTAAT	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		21716	0.0		0.0	False		,,,				2504	0.001					uc003lkf.1		NA																	0					0						c.(2272-2274)ACG>ATG		protocadherin gamma subfamily B, 5 isoform 1		C	,,,,,,,,,,,MET/THR,,MET/THR	0,3836		0,0,1918	291.0	290.0	290.0		,,,,,,,,,,,2273,,2273	3.7	0.6	5		290	1,8231		0,1,4115	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_032088.1,NM_032099.1	,,,,,,,,,,,81,,81	0,1,6033	TT,TC,CC		0.0121,0.0,0.0083	,,,,,,,,,,,,,	,,,,,,,,,,,758/924,,758/819	140779967	1,12067	1918	4116	6034	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779967C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+27591C>T	5.37:g.140779967C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.T758M|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	p.T758M	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2273	+			758			Cytoplasmic (Potential).		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.2273C>T	CCDS58980.1																																																																																				0.448	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		66	267	0	0	0	0	66	267				
PCDH1	5097	broad.mit.edu	37	5	141243981	141243981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:141243981C>T	ENST00000394536.3	-	3	2054	c.1915G>A	c.(1915-1917)Gga>Aga	p.G639R	PCDH1_ENST00000287008.3_Missense_Mutation_p.G639R|PCDH1_ENST00000456271.1_Missense_Mutation_p.G627R|PCDH1_ENST00000536585.1_Missense_Mutation_p.G617R|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	639	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCTTGTCTCCATCAATGACA	0.517																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NA																	0				ovary(5)	5						c.(1915-1917)GGA>AGA		protocadherin 1 isoform 1 precursor							97.0	95.0	96.0					5																	141243981		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243981C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1915G>A	5.37:g.141243981C>T	ENSP00000378043:p.Gly639Arg					PCDH1_uc003llp.2_Missense_Mutation_p.G639R|PCDH1_uc011dbf.1_Missense_Mutation_p.G617R	p.G639R	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2032	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	639			Extracellular (Potential).|Cadherin 6.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.1915G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	14.36	2.511512	0.44660	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.60040	0.22;4.67;4.67;4.67;4.67	5.85	5.85	0.93711	Cadherin (4);Cadherin-like (1);	0.127728	0.35040	N	0.003497	T	0.43233	0.1238	N	0.03209	-0.39	0.36547	D	0.871631	P;P	0.41188	0.741;0.552	B;B	0.43889	0.435;0.242	T	0.60156	-0.7318	10	0.72032	D	0.01	.	17.6577	0.88182	0.0:1.0:0.0:0.0	.	639;639	Q08174;Q08174-2	PCDH1_HUMAN;.	R	639;639;627;650;617	ENSP00000287008:G639R;ENSP00000378043:G639R;ENSP00000403497:G627R;ENSP00000350122:G650R;ENSP00000438825:G617R	ENSP00000287008:G639R	G	-	1	0	PCDH1	141224165	0.534000	0.26362	1.000000	0.80357	0.998000	0.95712	1.896000	0.39789	2.780000	0.95670	0.556000	0.70494	GGA		0.517	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		16	62	0	0	0	0	16	62				
TENM2	57451	broad.mit.edu	37	5	167419991	167419991	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:167419991C>T	ENST00000518659.1	+	5	1029	c.990C>T	c.(988-990)ttC>ttT	p.F330F	TENM2_ENST00000519204.1_Silent_p.F209F|TENM2_ENST00000520394.1_Silent_p.F139F|TENM2_ENST00000545108.1_Silent_p.F330F|TENM2_ENST00000403607.2_Silent_p.F163F|TENM2_ENST00000520393.1_3'UTR	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	330	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACCCTTGTTCAGCAGCTCTT	0.567																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(988-990)TTC>TTT		odz, odd Oz/ten-m homolog 2							78.0	80.0	79.0					5																	167419991		1937	4128	6065	SO:0001819	synonymous_variant	57451							g.chr5:167419991C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.990C>T	5.37:g.167419991C>T						ODZ2_uc003lzq.2_Silent_p.F209F|ODZ2_uc003lzr.3_Silent_p.F139F	p.F330F	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	5	990	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.990C>T																																																																																					0.567	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		22	52	0	0	0	0	22	52				
NSD1	64324	broad.mit.edu	37	5	176721768	176721768	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:176721768G>C	ENST00000439151.2	+	23	7444	c.7399G>C	c.(7399-7401)Gag>Cag	p.E2467Q	NSD1_ENST00000347982.4_Missense_Mutation_p.E2198Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E2198Q|NSD1_ENST00000361032.4_Missense_Mutation_p.E2364Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2467					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGCCAGAAGGAGCGGGCAGC	0.502			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(7399-7401)GAG>CAG		nuclear receptor binding SET domain protein 1							74.0	73.0	74.0					5																	176721768		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176721768G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7399G>C	5.37:g.176721768G>C	ENSP00000395929:p.Glu2467Gln	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.E2198Q|NSD1_uc011dfx.1_Missense_Mutation_p.E2115Q	p.E2467Q	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	7537	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2467					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.7399G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977505	0.53720	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94931	-3.47;-3.46;-3.47;-3.56	5.31	5.31	0.75309	.	0.192898	0.35970	N	0.002872	D	0.93077	0.7796	L	0.36672	1.1	0.31920	N	0.613504	P;B	0.37370	0.592;0.321	P;B	0.45406	0.479;0.177	D	0.94770	0.7944	10	0.72032	D	0.01	.	14.4308	0.67249	0.0:0.1464:0.8535:0.0	.	2198;2467	Q96L73-2;Q96L73	.;NSD1_HUMAN	Q	2198;2467;2198;2364	ENSP00000346111:E2198Q;ENSP00000395929:E2467Q;ENSP00000343209:E2198Q;ENSP00000354310:E2364Q	ENSP00000343209:E2198Q	E	+	1	0	NSD1	176654374	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	4.133000	0.57983	2.502000	0.84385	0.462000	0.41574	GAG		0.502	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		13	60	0	0	0	0	13	60				
JARID2	3720	broad.mit.edu	37	6	15508627	15508627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:15508627C>G	ENST00000341776.2	+	12	3032	c.2788C>G	c.(2788-2790)Cga>Gga	p.R930G	JARID2_ENST00000541660.1_Missense_Mutation_p.R892G|JARID2_ENST00000397311.3_Missense_Mutation_p.R758G	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	930	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATGCTGGTCTCGAGACCAAAA	0.463																																						uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(2788-2790)CGA>GGA		jumonji, AT rich interactive domain 2 protein							148.0	126.0	133.0					6																	15508627		2203	4300	6503	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15508627C>G	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2788C>G	6.37:g.15508627C>G	ENSP00000341280:p.Arg930Gly					JARID2_uc011div.1_Missense_Mutation_p.R758G|JARID2_uc011diw.1_Missense_Mutation_p.R892G	p.R930G	NM_004973	NP_004964	Q92833	JARD2_HUMAN			12	3032	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	930			JmjC.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2788C>G	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600493	0.87055	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.79247	-1.25;-1.25;-1.25	5.71	5.71	0.89125	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.063304	0.64402	D	0.000003	D	0.83899	0.5354	L	0.60455	1.87	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.70716	0.965;0.97	T	0.81810	-0.0762	10	0.41790	T	0.15	-4.4812	19.8484	0.96730	0.0:1.0:0.0:0.0	.	892;930	F5H590;Q92833	.;JARD2_HUMAN	G	930;758;892	ENSP00000341280:R930G;ENSP00000380478:R758G;ENSP00000444623:R892G	ENSP00000341280:R930G	R	+	1	2	JARID2	15616606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.294000	0.59043	2.684000	0.91462	0.655000	0.94253	CGA		0.463	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		12	47	0	0	0	0	12	47				
KIAA0319	9856	broad.mit.edu	37	6	24596166	24596166	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:24596166C>G	ENST00000378214.3	-	3	1260	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.E246Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E246Q|KIAA0319_ENST00000535378.1_Missense_Mutation_p.E237Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E201Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	246					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCAACACCTCTCCTGAAGAT	0.527																																						uc011djo.1		NA																	0				ovary(1)|skin(1)	2						c.(736-738)GAG>CAG		KIAA0319 precursor							107.0	103.0	104.0					6																	24596166		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596166C>G	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.736G>C	6.37:g.24596166C>G	ENSP00000367459:p.Glu246Gln					KIAA0319_uc011djp.1_Missense_Mutation_p.E201Q|KIAA0319_uc003neh.1_Missense_Mutation_p.E246Q|KIAA0319_uc011djq.1_Missense_Mutation_p.E237Q|KIAA0319_uc011djr.1_Missense_Mutation_p.E246Q	p.E246Q	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			3	973	-			246			Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.736G>C	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	9.376	1.071833	0.20147	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	4.09	-0.261	0.12963	.	0.261433	0.26935	N	0.021752	T	0.01730	0.0055	L	0.32530	0.975	0.09310	N	1	B;B;B	0.23377	0.084;0.084;0.051	B;B;B	0.26094	0.066;0.037;0.016	T	0.44375	-0.9332	10	0.35671	T	0.21	-4.8664	4.874	0.13648	0.0:0.375:0.2892:0.3358	.	246;237;246	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Q	246;237;201;246;246	ENSP00000439700:E246Q;ENSP00000442403:E237Q;ENSP00000401086:E201Q;ENSP00000367459:E246Q;ENSP00000437656:E246Q	ENSP00000367459:E246Q	E	-	1	0	KIAA0319	24704145	0.050000	0.20438	0.003000	0.11579	0.028000	0.11728	0.367000	0.20382	0.036000	0.15547	0.609000	0.83330	GAG		0.527	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		20	91	0	0	0	0	20	91				
HIST1H2BH	8345	broad.mit.edu	37	6	26252092	26252092	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:26252092G>C	ENST00000356350.2	+	1	214	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	72					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGATATCTTCGAGCGCATCGC	0.577																																						uc003nhh.2		NA																	0				ovary(3)	3						c.(214-216)GAG>CAG		histone cluster 1, H2bh							116.0	115.0	115.0					6																	26252092		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252092G>C	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.214G>C	6.37:g.26252092G>C	ENSP00000348706:p.Glu72Gln					HIST1H3F_uc003nhg.1_5'Flank	p.E72Q	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	214	+			72					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.214G>C	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	14.96	2.691365	0.48097	.	.	ENSG00000197459	ENST00000356350	T	0.28454	1.61	4.65	2.83	0.33086	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.35595	0.0937	H	0.96576	3.845	0.26647	N	0.972173	P	0.35433	0.501	B	0.40602	0.334	T	0.41197	-0.9522	9	0.59425	D	0.04	.	9.0179	0.36182	0.0793:0.0:0.7731:0.1476	.	72	Q93079	H2B1H_HUMAN	Q	72	ENSP00000348706:E72Q	ENSP00000348706:E72Q	E	+	1	0	HIST1H2BH	26360071	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	7.634000	0.83273	0.628000	0.30357	-0.293000	0.09583	GAG		0.577	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		22	142	0	0	0	0	22	142				
ZBED9	114821	broad.mit.edu	37	6	28554275	28554275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:28554275G>A	ENST00000452236.2	-	1	837	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CAAAGTTCCCGCAGTTGACTC	0.542																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(220-222)CGG>TGG		SCAN domain containing 3							84.0	79.0	81.0					6																	28554275		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554275G>A																												ENST00000452236.2:c.220C>T	6.37:g.28554275G>A	ENSP00000395259:p.Arg74Trp					uc003nlp.1_5'Flank	p.R74W	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			1	838	-			74			SCAN box.			Missense_Mutation	SNP	ENST00000452236.2	37	c.220C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022169	0.35701	.	.	ENSG00000232040	ENST00000452236	T	0.05447	3.44	3.46	1.39	0.22231	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.07818	0.0196	L	0.45228	1.405	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.18967	-1.0320	9	0.87932	D	0	.	9.6835	0.40085	0.0:0.0:0.612:0.388	.	74	Q6R2W3	SCND3_HUMAN	W	74	ENSP00000395259:R74W	ENSP00000395259:R74W	R	-	1	2	SCAND3	28662254	0.018000	0.18449	0.021000	0.16686	0.991000	0.79684	0.463000	0.21972	0.743000	0.32719	0.655000	0.94253	CGG		0.542	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			17	77	0	0	0	0	17	77				
OR14J1	442191	broad.mit.edu	37	6	29274829	29274829	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:29274829C>T	ENST00000377160.2	+	1	427	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATGACAGGTACGCAGCAATCT	0.478																																						uc011dln.1		NA																	0				ovary(1)	1						c.(361-363)TAC>TAT		olfactory receptor, family 5, subfamily U member							131.0	134.0	133.0					6																	29274829		1511	2709	4220	SO:0001819	synonymous_variant	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274829C>T		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.363C>T	6.37:g.29274829C>T							p.Y121Y	NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN			1	363	+			121			Cytoplasmic (Potential).		A2BEC2|B0V078|Q5ST27	Silent	SNP	ENST00000377160.2	37	c.363C>T	CCDS34362.1																																																																																				0.478	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			29	87	0	0	0	0	29	87				
SKIV2L	6499	broad.mit.edu	37	6	31934521	31934521	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:31934521C>T	ENST00000375394.2	+	19	2351	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	SKIV2L_ENST00000544581.1_Silent_p.L553L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	746	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGTTCCGCCTCACGTACACTA	0.567																																						uc003nyn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2236-2238)CTC>CTT		superkiller viralicidic activity 2-like homolog							135.0	125.0	129.0					6																	31934521		2203	4300	6503	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31934521C>T		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2238C>T	6.37:g.31934521C>T						SKIV2L_uc011dou.1_Silent_p.L588L|SKIV2L_uc011dov.1_Silent_p.L553L	p.L746L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			19	2627	+			746			Helicase C-terminal.		O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.2238C>T	CCDS4731.1																																																																																				0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			23	124	0	0	0	0	23	124				
SKIV2L	6499	broad.mit.edu	37	6	31934894	31934894	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:31934894G>C	ENST00000375394.2	+	20	2567	c.2454G>C	c.(2452-2454)ctG>ctC	p.L818L	DXO_ENST00000478221.1_5'Flank|SKIV2L_ENST00000544581.1_Silent_p.L625L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	818					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGAGGAACTGACAGAGACCC	0.537																																						uc003nyn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(2452-2454)CTG>CTC		superkiller viralicidic activity 2-like homolog							110.0	119.0	116.0					6																	31934894		1510	2709	4219	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31934894G>C		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2454G>C	6.37:g.31934894G>C						SKIV2L_uc011dou.1_Silent_p.L660L|SKIV2L_uc011dov.1_Silent_p.L625L	p.L818L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			20	2843	+			818					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.2454G>C	CCDS4731.1																																																																																				0.537	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			16	77	0	0	0	0	16	77				
SLC26A8	116369	broad.mit.edu	37	6	35980126	35980126	+	Missense_Mutation	SNP	C	C	T	rs116146081		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:35980126C>T	ENST00000490799.1	-	3	565	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	SLC26A8_ENST00000394602.2_Missense_Mutation_p.R71Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R71Q	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AAGCACGCATCGTAGGAACCT	0.463																																						uc003olm.2		NA																	0				ovary(2)	2						c.(211-213)CGA>CAA		solute carrier family 26, member 8 isoform a							152.0	138.0	143.0					6																	35980126		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980126C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.212G>A	6.37:g.35980126C>T	ENSP00000417638:p.Arg71Gln					SLC26A8_uc003oln.2_Missense_Mutation_p.R71Q|SLC26A8_uc003oll.2_Missense_Mutation_p.R71Q	p.R71Q	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			3	323	-			71			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.212G>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634179	0.47049	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.81	-0.546	0.11840	.	0.619767	0.15937	N	0.237391	T	0.16342	0.0393	L	0.34521	1.04	0.09310	N	1	D;D	0.63880	0.968;0.993	B;P	0.49276	0.248;0.605	T	0.29579	-1.0007	10	0.18710	T	0.47	.	9.3695	0.38246	0.0:0.446:0.0:0.554	.	71;71	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	Q	71;71;71;157	ENSP00000417638:R71Q;ENSP00000378100:R71Q;ENSP00000347778:R71Q;ENSP00000420488:R157Q	ENSP00000347778:R71Q	R	-	2	0	SLC26A8	36088104	0.005000	0.15991	0.208000	0.23602	0.854000	0.48673	-0.463000	0.06696	-0.042000	0.13535	0.650000	0.86243	CGA		0.463	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			17	94	0	0	0	0	17	94				
GPR115	221393	broad.mit.edu	37	6	47678616	47678616	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:47678616C>G	ENST00000283303.2	+	4	552	c.294C>G	c.(292-294)ctC>ctG	p.L98L	GPR115_ENST00000327753.3_Silent_p.L98L|GPR115_ENST00000371220.1_Silent_p.L155L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	98					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAAAACTCTTTAAGGTGA	0.373																																					GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(292-294)CTC>CTG		G-protein coupled receptor 115 precursor							91.0	94.0	93.0					6																	47678616		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47678616C>G	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.294C>G	6.37:g.47678616C>G						GPR115_uc003oyz.1_Silent_p.L155L|GPR115_uc003ozb.1_Silent_p.L96L	p.L98L	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			4	552	+			98			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.294C>G	CCDS4922.2																																																																																				0.373	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		9	39	0	0	0	0	9	39				
RAB23	51715	broad.mit.edu	37	6	57075104	57075104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:57075104C>A	ENST00000317483.3	-	2	694	c.75G>T	c.(73-75)atG>atT	p.M25I	RAB23_ENST00000468148.1_Missense_Mutation_p.M25I	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	25					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATCGCTGAATCATACTTGATT	0.378																																						uc003pds.2		NA																	0				skin(1)	1						c.(73-75)ATG>ATT		Ras-related protein Rab-23							229.0	208.0	215.0					6																	57075104		2203	4300	6503	SO:0001583	missense	51715				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr6:57075104C>A	AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"""RAB, member RAS oncogene"""	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.75G>T	6.37:g.57075104C>A	ENSP00000320413:p.Met25Ile					RAB23_uc003pdt.2_Missense_Mutation_p.M25I|RAB23_uc010kac.2_Missense_Mutation_p.M25I|RAB23_uc010kad.2_RNA	p.M25I	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		2	281	-	Lung NSC(77;0.121)		25					B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	ENST00000317483.3	37	c.75G>T	CCDS4962.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026007	0.75390	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.77877	-1.13;-1.13	5.55	5.55	0.83447	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	N	0.02142	-0.665	0.80722	D	1	D	0.63880	0.993	D	0.70716	0.97	T	0.81841	-0.0747	10	0.66056	D	0.02	3.6904	19.4985	0.95083	0.0:1.0:0.0:0.0	.	25	Q9ULC3	RAB23_HUMAN	I	25	ENSP00000320413:M25I;ENSP00000417610:M25I	ENSP00000320413:M25I	M	-	3	0	RAB23	57183063	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.814000	0.86154	2.602000	0.87976	0.655000	0.94253	ATG		0.378	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041042.1			21	79	1	0	7.45e-12	1.11e-11	21	79				
AHI1	54806	broad.mit.edu	37	6	135787271	135787271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:135787271C>A	ENST00000367800.4	-	5	646	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	AHI1_ENST00000327035.6_Nonsense_Mutation_p.E144*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.E144*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	144	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCAGGAGTTTCCGGTTTCAGG	0.438																																						uc003qgi.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(430-432)GAA>TAA		Abelson helper integration site 1 isoform a							228.0	202.0	210.0					6																	135787271		1936	4131	6067	SO:0001587	stop_gained	54806					adherens junction|cilium|microtubule basal body		g.chr6:135787271C>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.430G>T	6.37:g.135787271C>A	ENSP00000356774:p.Glu144*					AHI1_uc003qgh.2_Nonsense_Mutation_p.E144*|AHI1_uc003qgj.2_Nonsense_Mutation_p.E144*|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Nonsense_Mutation_p.E144*	p.E144*	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	7	814	-	Breast(56;0.239)|Colorectal(23;0.24)		144					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Nonsense_Mutation	SNP	ENST00000367800.4	37	c.430G>T	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	C	35	5.580630	0.96565	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	.	.	.	5.77	3.99	0.46301	.	0.698199	0.13418	N	0.389412	.	.	.	.	.	.	0.26190	N	0.979591	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-12.0261	12.004	0.53248	0.0:0.8124:0.122:0.0656	.	.	.	.	X	144;144;144;144;144;126	.	ENSP00000265602:E144X	E	-	1	0	AHI1	135828964	0.031000	0.19500	0.010000	0.14722	0.118000	0.20060	1.178000	0.31981	0.897000	0.36392	0.585000	0.79938	GAA		0.438	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		37	107	1	0	3.04e-20	4.58e-20	37	107				
SYNE1	23345	broad.mit.edu	37	6	152470722	152470722	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:152470722C>T	ENST00000367255.5	-	136	25133	c.24532G>A	c.(24532-24534)Gag>Aag	p.E8178K	SYNE1_ENST00000539504.1_Missense_Mutation_p.E333K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7790K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8178K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8107K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2702K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8107K|SYNE1_ENST00000354674.4_Missense_Mutation_p.E333K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8178					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAGGGCTCACTCTTTTCT	0.478										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(24532-24534)GAG>AAG		spectrin repeat containing, nuclear envelope 1							133.0	123.0	126.0					6																	152470722		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152470722C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24532G>A	6.37:g.152470722C>T	ENSP00000356224:p.Glu8178Lys	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.E2702K|SYNE1_uc003qos.3_Missense_Mutation_p.E2702K|SYNE1_uc003qot.3_Missense_Mutation_p.E8107K|SYNE1_uc003qou.3_Missense_Mutation_p.E8178K|SYNE1_uc003qop.3_Missense_Mutation_p.E340K|SYNE1_uc011eez.1_Missense_Mutation_p.E380K|SYNE1_uc003qoq.3_Missense_Mutation_p.E380K|SYNE1_uc003qor.3_Missense_Mutation_p.E1078K	p.E8178K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	136	25134	-		Ovarian(120;0.0955)	8178			Spectrin 30.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24532G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	36	5.669113	0.96754	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000013	T	0.61887	0.2383	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.994	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.95	T	0.56511	-0.7967	10	0.39692	T	0.17	.	19.9571	0.97224	0.0:1.0:0.0:0.0	.	8178;8178;8107;8107;380	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	K	8178;333;824;8107;8178;8107;7790;2702;340;335;1100;333	ENSP00000356224:E8178K;ENSP00000441052:E333K;ENSP00000356226:E824K;ENSP00000396024:E8107K;ENSP00000265368:E8178K;ENSP00000390975:E8107K;ENSP00000341887:E7790K;ENSP00000349276:E2702K;ENSP00000356220:E1100K;ENSP00000346701:E333K	ENSP00000265368:E8178K	E	-	1	0	SYNE1	152512415	1.000000	0.71417	0.969000	0.41365	0.781000	0.44180	7.625000	0.83145	2.721000	0.93114	0.655000	0.94253	GAG		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		20	62	0	0	0	0	20	62				
OSBPL3	26031	broad.mit.edu	37	7	24905839	24905839	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:24905839G>A	ENST00000313367.2	-	6	850	c.399C>T	c.(397-399)gtC>gtT	p.V133V	OSBPL3_ENST00000396429.1_Silent_p.V133V|OSBPL3_ENST00000396431.1_Silent_p.V133V|OSBPL3_ENST00000352860.1_Silent_p.V133V|OSBPL3_ENST00000409069.1_Silent_p.V133V|OSBPL3_ENST00000431825.2_Silent_p.V133V|OSBPL3_ENST00000353930.1_Silent_p.V133V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	133	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACTCATCAAAGACTTCTTCTG	0.388																																						uc003sxf.2		NA																	0				skin(1)	1						c.(397-399)GTC>GTT		oxysterol-binding protein-like protein 3 isoform							110.0	96.0	101.0					7																	24905839		2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24905839G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.399C>T	7.37:g.24905839G>A						OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Silent_p.V133V|OSBPL3_uc003sxh.2_Silent_p.V133V|OSBPL3_uc003sxi.2_Silent_p.V133V	p.V133V	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN			6	804	-			133			PH.		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.399C>T	CCDS5390.1																																																																																				0.388	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			14	40	0	0	0	0	14	40				
SUN3	256979	broad.mit.edu	37	7	48068470	48068470	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:48068470G>A	ENST00000297325.4	-	1	225	c.66C>T	c.(64-66)agC>agT	p.S22S	SUN3_ENST00000395572.2_Silent_p.S22S|SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	22						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGCGCTACCGCTGGCGTCTT	0.473																																						uc003tof.2		NA																	0				central_nervous_system(1)	1						c.(64-66)AGC>AGT		Sad1 and UNC84 domain containing 1							182.0	163.0	170.0					7																	48068470		2203	4300	6503	SO:0001819	synonymous_variant	256979					integral to membrane		g.chr7:48068470G>A	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.66C>T	7.37:g.48068470G>A						SUN3_uc003tog.2_Silent_p.S22S|SUN3_uc011kcf.1_5'UTR	p.S22S	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			2	163	-			22					A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Silent	SNP	ENST00000297325.4	37	c.66C>T	CCDS34636.1																																																																																				0.473	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		25	87	0	0	0	0	25	87				
FZD9	8326	broad.mit.edu	37	7	72849297	72849297	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:72849297C>G	ENST00000344575.3	+	1	1189	c.960C>G	c.(958-960)ctC>ctG	p.L320L		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	320					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTACTGCTCTACTACTTCG	0.667																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2		NA																	0				central_nervous_system(1)	1						c.(958-960)CTC>CTG		frizzled 9 precursor							97.0	87.0	91.0					7																	72849297		2203	4300	6503	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849297C>G	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.960C>G	7.37:g.72849297C>G							p.L320L	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1189	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	320			Helical; Name=3; (Potential).			Silent	SNP	ENST00000344575.3	37	c.960C>G	CCDS5548.1																																																																																				0.667	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			14	62	0	0	0	0	14	62				
FZD9	8326	broad.mit.edu	37	7	72849453	72849453	+	Silent	SNP	C	C	T	rs563536385		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:72849453C>T	ENST00000344575.3	+	1	1345	c.1116C>T	c.(1114-1116)gtC>gtT	p.V372V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	372					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGACCATCGTCATCCTGACCC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		18799	0.001		0.0	False		,,,				2504	0.0				Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2		NA																	0				central_nervous_system(1)	1						c.(1114-1116)GTC>GTT		frizzled 9 precursor							44.0	42.0	43.0					7																	72849453		2203	4300	6503	SO:0001819	synonymous_variant	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849453C>T	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1116C>T	7.37:g.72849453C>T							p.V372V	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1345	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	372			Helical; Name=4; (Potential).			Silent	SNP	ENST00000344575.3	37	c.1116C>T	CCDS5548.1																																																																																				0.662	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			24	42	0	0	0	0	24	42				
PCLO	27445	broad.mit.edu	37	7	82763968	82763968	+	Silent	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:82763968T>C	ENST00000333891.9	-	3	3235	c.2898A>G	c.(2896-2898)caA>caG	p.Q966Q	PCLO_ENST00000423517.2_Silent_p.Q966Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCAGGGGCTTGTTTCATTG	0.507																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(2896-2898)CAA>CAG		piccolo isoform 1							48.0	48.0	48.0					7																	82763968		1931	4136	6067	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763968T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2898A>G	7.37:g.82763968T>C						PCLO_uc003uhv.2_Silent_p.Q966Q	p.Q966Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	3187	-			912			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.2898A>G	CCDS47630.1																																																																																				0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	41	0	0	0	0	9	41				
PCLO	27445	broad.mit.edu	37	7	82785588	82785588	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:82785588C>G	ENST00000333891.9	-	2	706	c.369G>C	c.(367-369)caG>caC	p.Q123H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q123H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGGCAATTTCTGCTCTGACC	0.483																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(367-369)CAG>CAC		piccolo isoform 1							89.0	88.0	88.0					7																	82785588		1849	4095	5944	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785588C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.369G>C	7.37:g.82785588C>G	ENSP00000334319:p.Gln123His					PCLO_uc003uhv.2_Missense_Mutation_p.Q123H	p.Q123H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	658	-			123						Missense_Mutation	SNP	ENST00000333891.9	37	c.369G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311298	0.40895	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.23348	1.91;1.92	5.54	5.54	0.83059	.	.	.	.	.	T	0.35422	0.0931	L	0.29908	0.895	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.61592	0.891;0.891	T	0.07328	-1.0778	9	0.87932	D	0	.	13.2096	0.59817	0.0:0.9177:0.0:0.0823	.	123;123	Q9Y6V0-5;Q9Y6V0-6	.;.	H	123	ENSP00000334319:Q123H;ENSP00000388393:Q123H	ENSP00000334319:Q123H	Q	-	3	2	PCLO	82623524	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.097000	0.41748	2.618000	0.88619	0.591000	0.81541	CAG		0.483	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		15	76	0	0	0	0	15	76				
COL1A2	1278	broad.mit.edu	37	7	94057185	94057185	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:94057185G>C	ENST00000297268.6	+	49	3985	c.3514G>C	c.(3514-3516)Gag>Cag	p.E1172Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1172	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGCCACCCAGAGTGGAGCAG	0.468										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3514-3516)GAG>CAG		alpha 2 type I collagen precursor	Collagenase(DB00048)						49.0	46.0	47.0					7																	94057185		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94057185G>C	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3514G>C	7.37:g.94057185G>C	ENSP00000297268:p.Glu1172Gln	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.E1172Q	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		49	3985	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1172			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3514G>C	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725041	0.68959	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	T	0.74315	-0.83	5.65	5.65	0.86999	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	L	0.60904	1.88	0.80722	D	1	D	0.62365	0.991	P	0.59825	0.864	T	0.80439	-0.1382	10	0.39692	T	0.17	.	20.1065	0.97896	0.0:0.0:1.0:0.0	.	1172	P08123	CO1A2_HUMAN	Q	1172;1173	ENSP00000297268:E1172Q	ENSP00000297268:E1172Q	E	+	1	0	COL1A2	93895121	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GAG		0.468	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		4	27	0	0	0	0	4	27				
GAL3ST4	79690	broad.mit.edu	37	7	99757817	99757817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:99757817G>A	ENST00000360039.4	-	4	1587	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R399C|GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000419841.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R337C	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	399					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCTCGGCGAGCCCGGAGC	0.612																																						uc003utt.2		NA																	0				ovary(3)	3						c.(1195-1197)CGC>TGC		galactose-3-O-sulfotransferase 4							54.0	58.0	57.0					7																	99757817		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757817G>A	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1195C>T	7.37:g.99757817G>A	ENSP00000353142:p.Arg399Cys					C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R399C|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R337C	p.R399C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	2212	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		399			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1195C>T	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904481	0.52333	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.15603	2.41;2.41;2.41	5.71	4.83	0.62350	.	0.079061	0.46758	U	0.000262	T	0.37945	0.1022	M	0.82056	2.57	0.23869	N	0.996618	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.28902	-1.0029	10	0.38643	T	0.18	-9.7082	6.681	0.23119	0.0875:0.0:0.7345:0.1781	.	337;399	B4DWL8;Q96RP7	.;G3ST4_HUMAN	C	399;399;337	ENSP00000400451:R399C;ENSP00000353142:R399C;ENSP00000398304:R337C	ENSP00000353142:R399C	R	-	1	0	GAL3ST4	99595753	0.006000	0.16342	0.997000	0.53966	0.532000	0.34746	1.073000	0.30691	2.704000	0.92352	0.561000	0.74099	CGC		0.612	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		36	102	0	0	0	0	36	102				
CFTR	1080	broad.mit.edu	37	7	117149168	117149168	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:117149168T>A	ENST00000003084.6	+	3	377	c.245T>A	c.(244-246)aTg>aAg	p.M82K	CFTR_ENST00000454343.1_Missense_Mutation_p.M82K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	82	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGGAGATTTATGTTCTATGGA	0.318									Cystic Fibrosis																													uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(244-246)ATG>AAG		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						132.0	140.0	137.0					7																	117149168		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117149168T>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.245T>A	7.37:g.117149168T>A	ENSP00000003084:p.Met82Lys					CFTR_uc011knq.1_5'UTR	p.M82K	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		3	377	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		82			Helical; Name=1; (Potential).|ABC transmembrane type-1 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.245T>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	13.87	2.367466	0.42003	.	.	ENSG00000001626	ENST00000446805;ENST00000003084;ENST00000454343;ENST00000426809	D;D;D;D	0.99080	-5.4;-3.35;-3.35;-3.35	5.68	0.718	0.18202	ABC transporter, transmembrane domain, type 1 (1);	0.696022	0.16170	N	0.226359	D	0.96021	0.8704	N	0.19112	0.55	0.26684	N	0.971487	B	0.20164	0.042	B	0.25759	0.063	D	0.92033	0.5635	10	0.66056	D	0.02	-2.9761	9.8612	0.41116	0.0:0.3359:0.0:0.6641	.	82	P13569	CFTR_HUMAN	K	1;82;82;82	ENSP00000417012:M1K;ENSP00000003084:M82K;ENSP00000403677:M82K;ENSP00000389119:M82K	ENSP00000003084:M82K	M	+	2	0	CFTR	116936404	0.965000	0.33210	0.885000	0.34714	0.968000	0.65278	0.541000	0.23207	-0.099000	0.12263	-0.376000	0.06991	ATG		0.318	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		22	103	0	0	0	0	22	103				
FEZF1	389549	broad.mit.edu	37	7	121943869	121943869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:121943869G>A	ENST00000442488.2	-	1	690	c.623C>T	c.(622-624)gCg>gTg	p.A208V	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.A158V|FEZF1_ENST00000331178.4_Missense_Mutation_p.A208V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	208					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTTCTCCACCGCCGGGACCAC	0.527																																						uc003vkd.2		NA																	0				ovary(2)|breast(1)	3						c.(622-624)GCG>GTG		FEZ family zinc finger 1 isoform 1							51.0	57.0	55.0					7																	121943869		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943869G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.623C>T	7.37:g.121943869G>A	ENSP00000411145:p.Ala208Val					FEZF1_uc003vkc.2_Missense_Mutation_p.A158V|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.A208V	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	697	-			208					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.623C>T	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288473	0.40494	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07800	3.16;3.32;3.21	4.72	4.72	0.59763	.	0.379178	0.30575	N	0.009337	T	0.07143	0.0181	N	0.17082	0.46	0.31840	N	0.623558	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.05699	-1.0869	10	0.46703	T	0.11	-11.8516	17.1899	0.86876	0.0:0.0:1.0:0.0	.	208;158	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	V	208;208;158	ENSP00000411145:A208V;ENSP00000332777:A208V;ENSP00000392727:A158V	ENSP00000332777:A208V	A	-	2	0	FEZF1	121731105	0.976000	0.34144	0.976000	0.42696	0.765000	0.43378	3.636000	0.54317	2.595000	0.87683	0.555000	0.69702	GCG		0.527	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		17	54	0	0	0	0	17	54				
IQUB	154865	broad.mit.edu	37	7	123097516	123097516	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:123097516G>T	ENST00000466202.1	-	12	2688	c.2112C>A	c.(2110-2112)tcC>tcA	p.S704S	IQUB_ENST00000324698.6_Silent_p.S704S|RP11-332K15.1_ENST00000419832.1_RNA|RNU6-296P_ENST00000384608.1_RNA	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	704					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACCACTCCAGGGATTTATTCC	0.453																																						uc003vkn.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(2110-2112)TCC>TCA		IQ motif and ubiquitin domain containing							157.0	158.0	158.0					7																	123097516		2203	4300	6503	SO:0001819	synonymous_variant	154865							g.chr7:123097516G>T	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2112C>A	7.37:g.123097516G>T						IQUB_uc011kny.1_Silent_p.S37S|IQUB_uc003vko.2_Silent_p.S704S|IQUB_uc010lkt.2_RNA	p.S704S	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			12	2689	-			704					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.2112C>A	CCDS5787.1																																																																																				0.453	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		24	112	1	0	8.25e-16	1.24e-15	24	112				
TPK1	27010	broad.mit.edu	37	7	144380027	144380027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:144380027C>G	ENST00000360057.3	-	4	262	c.160G>C	c.(160-162)Gat>Cat	p.D54H	TPK1_ENST00000378099.3_Missense_Mutation_p.D54H|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.M8I	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	54					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCGGTGATATCATATAAGCGG	0.378																																					Ovarian(45;88 1034 2073 5829 28455)	uc003weq.2		NA																	0				ovary(2)	2						c.(160-162)GAT>CAT		thiamin pyrophosphokinase 1 isoform a	Thiamine(DB00152)						198.0	196.0	197.0					7																	144380027		2203	4300	6503	SO:0001583	missense	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144380027C>G	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.160G>C	7.37:g.144380027C>G	ENSP00000353165:p.Asp54His					TPK1_uc003weo.2_Missense_Mutation_p.M8I|TPK1_uc003wep.2_RNA|TPK1_uc003wer.2_Missense_Mutation_p.D54H|TPK1_uc003wes.2_RNA	p.D54H	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN			4	263	-			54					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.160G>C	CCDS5888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.40|13.40	2.225947|2.225947	0.39300|0.39300	.|.	.|.	ENSG00000196511|ENSG00000196511	ENST00000360057;ENST00000378099;ENST00000552881|ENST00000538212	D;D;D|T	0.84146|0.75704	-1.81;-1.81;-1.81|-0.96	6.02|6.02	5.09|5.09	0.68999|0.68999	Thiamin pyrophosphokinase, catalytic domain (3);|.	0.394600|.	0.31601|.	N|.	0.007378|.	T|T	0.71986|0.71986	0.3405|0.3405	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	B;B|B	0.16396|0.12630	0.006;0.017|0.006	B;B|B	0.13407|0.08055	0.004;0.009|0.003	T|T	0.70575|0.70575	-0.4834|-0.4834	10|9	0.51188|0.87932	T|D	0.08|0	-24.7459|-24.7459	12.4388|12.4388	0.55614|0.55614	0.0:0.8321:0.1679:0.0|0.0:0.8321:0.1679:0.0	.|.	54;54|8	F5GZG6;Q9H3S4|Q6ZQX6	.;TPK1_HUMAN|.	H|I	54|8	ENSP00000353165:D54H;ENSP00000367339:D54H;ENSP00000448655:D54H|ENSP00000438813:M8I	ENSP00000353165:D54H|ENSP00000449909:M8I	D|M	-|-	1|3	0|0	TPK1|TPK1	144010960|144010960	0.989000|0.989000	0.36119|0.36119	0.839000|0.839000	0.33178|0.33178	0.988000|0.988000	0.76386|0.76386	1.588000|1.588000	0.36633|0.36633	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.378	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		42	142	0	0	0	0	42	142				
GIMAP5	55340	broad.mit.edu	37	7	150439312	150439312	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:150439312A>G	ENST00000358647.3	+	3	452	c.85A>G	c.(85-87)Agg>Ggg	p.R29G	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	29	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGGCATTGAGGATTATCCT	0.468																																						uc003whr.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(85-87)AGG>GGG		GTPase, IMAP family member 5							78.0	71.0	73.0					7																	150439312		2203	4300	6503	SO:0001583	missense	55340					integral to membrane|mitochondrial outer membrane	GTP binding	g.chr7:150439312A>G	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.85A>G	7.37:g.150439312A>G	ENSP00000351473:p.Arg29Gly					GIMAP5_uc010lpu.2_5'UTR	p.R29G	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	437	+			29			Cytoplasmic (Potential).		D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.85A>G	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280539	0.59758	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.37411	1.2	4.61	3.45	0.39498	AIG1 (1);	0.048332	0.85682	D	0.000000	T	0.62466	0.2430	M	0.89968	3.075	0.31997	N	0.603835	D	0.89917	1.0	D	0.97110	1.0	T	0.70813	-0.4770	10	0.72032	D	0.01	.	8.2843	0.31920	0.7991:0.2009:0.0:0.0	.	29	Q96F15	GIMA5_HUMAN	G	29;65	ENSP00000351473:R29G	ENSP00000351473:R29G	R	+	1	2	GIMAP5	150070245	1.000000	0.71417	0.995000	0.50966	0.657000	0.38888	2.868000	0.48436	0.792000	0.33850	0.533000	0.62120	AGG		0.468	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		3	60	0	0	0	0	3	60				
KMT2C	58508	broad.mit.edu	37	7	152012253	152012253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:152012253G>C	ENST00000262189.6	-	4	778	c.560C>G	c.(559-561)tCa>tGa	p.S187*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S187*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	187					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCGTGGTGCTGAGTTTTGCAT	0.353																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(559-561)TCA>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							258.0	222.0	234.0					7																	152012253		2202	4300	6502	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:152012253G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.560C>G	7.37:g.152012253G>C	ENSP00000262189:p.Ser187*						p.S187*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	4	779	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	187					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.560C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688012	0.68271	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.58	1.64	0.23874	.	0.427611	0.16997	N	0.191046	.	.	.	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	6.8848	0.24193	0.2022:0.0:0.6725:0.1253	.	.	.	.	X	187	.	ENSP00000262189:S187X	S	-	2	0	MLL3	151643186	1.000000	0.71417	0.005000	0.12908	0.561000	0.35649	2.113000	0.41902	0.287000	0.22375	-0.251000	0.11542	TCA		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			23	88	0	0	0	0	23	88				
PXDNL	137902	broad.mit.edu	37	8	52252221	52252221	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:52252221G>C	ENST00000356297.4	-	21	4209	c.4109C>G	c.(4108-4110)gCg>gGg	p.A1370G	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1370					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGAATTTCCGCTGCAAACGT	0.368																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(4108-4110)GCG>GGG		peroxidasin homolog-like precursor							140.0	137.0	138.0					8																	52252221		1878	4100	5978	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52252221G>C		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4109C>G	8.37:g.52252221G>C	ENSP00000348645:p.Ala1370Gly					PXDNL_uc003xqt.3_Intron	p.A1370G	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			21	4210	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1370					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.4109C>G	CCDS47855.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.448|0.448	-0.895389|-0.895389	0.02491|0.02491	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297|ENST00000522933	T|.	0.65549|.	-0.16|.	5.0|5.0	-6.51|-6.51	0.01878|0.01878	.|.	.|.	.|.	.|.	.|.	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.14661|0.14661	0.345|0.345	0.19775|0.19775	N|N	0.999952|0.999952	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.28870|0.28870	-1.0030|-1.0030	9|5	0.23302|.	T|.	0.38|.	.|.	13.6835|13.6835	0.62502|0.62502	0.7688:0.0:0.2312:0.0|0.7688:0.0:0.2312:0.0	.|.	1370|.	A1KZ92|.	PXDNL_HUMAN|.	G|G	1370|444	ENSP00000348645:A1370G|.	ENSP00000348645:A1370G|.	A|R	-|-	2|1	0|2	PXDNL|PXDNL	52414774|52414774	0.032000|0.032000	0.19561|0.19561	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.471000|-0.471000	0.06631|0.06631	-2.087000|-2.087000	0.00862|0.00862	-0.952000|-0.952000	0.02654|0.02654	GCG|CGG		0.368	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		21	108	0	0	0	0	21	108				
SLC7A13	157724	broad.mit.edu	37	8	87230021	87230021	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:87230021G>A	ENST00000297524.3	-	3	960	c.857C>T	c.(856-858)tCa>tTa	p.S286L	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.S277L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	286						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCATGCTAATGAGGGAAAAGC	0.333																																						uc003ydq.1		NA																	0				central_nervous_system(1)	1						c.(856-858)TCA>TTA		solute carrier family 7, (cationic amino acid							55.0	63.0	60.0					8																	87230021		2201	4297	6498	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87230021G>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.857C>T	8.37:g.87230021G>A	ENSP00000297524:p.Ser286Leu					SLC7A13_uc003ydr.1_Missense_Mutation_p.S277L	p.S286L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	955	-			286			Extracellular (Potential).		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.857C>T	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586531	0.46110	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89343	-2.5;-2.5	5.13	1.88	0.25563	Amino acid permease domain (1);	0.967431	0.08509	N	0.935297	D	0.88833	0.6544	M	0.73430	2.235	0.09310	N	1	P;P	0.44946	0.766;0.846	B;P	0.46389	0.408;0.515	T	0.74973	-0.3481	10	0.11485	T	0.65	.	9.5036	0.39033	0.0867:0.0:0.7413:0.172	.	277;286	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	L	286;277	ENSP00000297524:S286L;ENSP00000410982:S277L	ENSP00000297524:S286L	S	-	2	0	SLC7A13	87299137	0.014000	0.17966	0.001000	0.08648	0.008000	0.06430	1.902000	0.39848	0.446000	0.26666	0.655000	0.94253	TCA		0.333	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		27	73	0	0	0	0	27	73				
CDH17	1015	broad.mit.edu	37	8	95172204	95172204	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:95172204T>A	ENST00000027335.3	-	12	1670	c.1546A>T	c.(1546-1548)Aaa>Taa	p.K516*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.K302*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.K516*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	516	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTACCTTTTTAATTATGACA	0.378																																						uc003ygh.2		NA																	0				ovary(5)|skin(1)	6						c.(1546-1548)AAA>TAA		cadherin 17 precursor							82.0	85.0	84.0					8																	95172204		2203	4300	6503	SO:0001587	stop_gained	1015					integral to membrane	calcium ion binding	g.chr8:95172204T>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1546A>T	8.37:g.95172204T>A	ENSP00000027335:p.Lys516*					CDH17_uc011lgo.1_Nonsense_Mutation_p.K302*|CDH17_uc011lgp.1_Nonsense_Mutation_p.K516*	p.K516*	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		12	1671	-	Breast(36;4.65e-06)		516			Extracellular (Potential).|Cadherin 5.		Q15336|Q2M2E0	Nonsense_Mutation	SNP	ENST00000027335.3	37	c.1546A>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566006	0.86439	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	.	.	.	5.35	5.35	0.76521	.	0.518379	0.17752	N	0.163186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.2946	12.8646	0.57932	0.0:0.0:0.0:1.0	.	.	.	.	X	516;302;516	.	ENSP00000027335:K516X	K	-	1	0	CDH17	95241380	1.000000	0.71417	0.930000	0.37139	0.030000	0.12068	2.153000	0.42282	2.034000	0.60081	0.459000	0.35465	AAA		0.378	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		8	81	0	0	0	0	8	81				
MTBP	27085	broad.mit.edu	37	8	121473491	121473491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:121473491G>C	ENST00000305949.1	+	9	1018	c.973G>C	c.(973-975)Gag>Cag	p.E325Q		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	325					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTGAATTTGAGTTGTATCC	0.323																																						uc003ypc.1		NA																	0				skin(2)|ovary(1)	3						c.(973-975)GAG>CAG		Mdm2, transformed 3T3 cell double minute 2, p53							111.0	107.0	108.0					8																	121473491		2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121473491G>C		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.973G>C	8.37:g.121473491G>C	ENSP00000303398:p.Glu325Gln					MTBP_uc011lie.1_RNA	p.E325Q	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		9	1018	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		325					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.973G>C	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502226	0.85176	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.82	5.82	0.92795	.	0.049305	0.85682	D	0.000000	T	0.79975	0.4539	M	0.72894	2.215	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.79562	-0.1752	9	0.56958	D	0.05	-23.6189	20.087	0.97801	0.0:0.0:1.0:0.0	.	325	Q96DY7	MTBP_HUMAN	Q	325	.	ENSP00000303398:E325Q	E	+	1	0	MTBP	121542672	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.670000	0.68088	2.746000	0.94184	0.551000	0.68910	GAG		0.323	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		13	42	0	0	0	0	13	42				
PTPRD	5789	broad.mit.edu	37	9	8518241	8518241	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:8518241T>G	ENST00000381196.4	-	18	1693	c.1150A>C	c.(1150-1152)Agt>Cgt	p.S384R	PTPRD_ENST00000358503.5_Missense_Mutation_p.S371R|PTPRD_ENST00000486161.1_Missense_Mutation_p.S384R|PTPRD_ENST00000540109.1_Missense_Mutation_p.S384R|PTPRD_ENST00000356435.5_Missense_Mutation_p.S384R|PTPRD_ENST00000397617.3_Missense_Mutation_p.S374R|PTPRD_ENST00000537002.1_Missense_Mutation_p.S381R|PTPRD_ENST00000355233.5_Missense_Mutation_p.S384R|PTPRD_ENST00000360074.4_Missense_Mutation_p.S371R|PTPRD_ENST00000397611.3_Missense_Mutation_p.S381R|PTPRD_ENST00000397606.3_Missense_Mutation_p.S374R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	384	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGTAGGGACTTAGTCCAGCG	0.463										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1150-1152)AGT>CGT		protein tyrosine phosphatase, receptor type, D							146.0	146.0	146.0					9																	8518241		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518241T>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1150A>C	9.37:g.8518241T>G	ENSP00000370593:p.Ser384Arg	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.S384R|PTPRD_uc003zkq.2_Missense_Mutation_p.S384R|PTPRD_uc003zkr.2_Missense_Mutation_p.S378R|PTPRD_uc003zks.2_Missense_Mutation_p.S374R|PTPRD_uc003zkl.2_Missense_Mutation_p.S384R|PTPRD_uc003zkm.2_Missense_Mutation_p.S371R|PTPRD_uc003zkn.2_Missense_Mutation_p.S384R|PTPRD_uc003zko.2_Missense_Mutation_p.S381R	p.S384R	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	1861	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	384			Fibronectin type-III 1.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1150A>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706064	0.48412	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	L	0.42529	1.33	0.80722	D	1	P;D;P;P;B;P;D;D;D	0.76494	0.92;0.993;0.771;0.553;0.024;0.946;0.987;0.999;0.99	P;D;P;B;B;P;P;D;P	0.91635	0.833;0.978;0.672;0.369;0.064;0.848;0.761;0.999;0.734	T	0.63341	-0.6659	9	.	.	.	.	14.9907	0.71387	0.0:0.0:0.0:1.0	.	374;378;384;384;381;381;371;384;384	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	384;384;371;371;384;374;381;381;384;384;384;374	ENSP00000370593:S384R;ENSP00000348812:S384R;ENSP00000353187:S371R;ENSP00000351293:S371R;ENSP00000347373:S384R;ENSP00000380741:S374R;ENSP00000380735:S381R;ENSP00000440515:S381R;ENSP00000438164:S384R;ENSP00000417093:S384R;ENSP00000380731:S374R	.	S	-	1	0	PTPRD	8508241	1.000000	0.71417	0.998000	0.56505	0.337000	0.28794	7.991000	0.88244	1.937000	0.56155	0.377000	0.23210	AGT		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			24	159	0	0	0	0	24	159				
CDKN2A	1029	broad.mit.edu	37	9	21974696	21974696	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:21974696T>C	ENST00000304494.5	-	1	401	c.131A>G	c.(130-132)tAc>tGc	p.Y44C	CDKN2A_ENST00000446177.1_Missense_Mutation_p.Y44C|CDKN2A_ENST00000579122.1_Missense_Mutation_p.Y44C|CDKN2A_ENST00000498124.1_Missense_Mutation_p.Y44C|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCGACCGTAACTATTCGG	0.687		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1344	Whole gene deletion(1316)|Unknown(25)|Substitution - Missense(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.0?(1112)|p.?(25)|p.Y44*(3)|p.Y44fs*1(1)|p.Y44fs*76(1)|p.V28_V51del(1)|p.Y44S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(130-132)TAC>TGC		cyclin-dependent kinase inhibitor 2A isoform 1							55.0	65.0	62.0					9																	21974696		2203	4300	6503	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974696T>C	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.131A>G	9.37:g.21974696T>C	ENSP00000307101:p.Tyr44Cys	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Missense_Mutation_p.Y44C|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.Y44C	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	343	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	44			ANK 2.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.131A>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421400	0.62622	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.91945	-2.94;-2.94	4.89	-9.77	0.00500	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.92205	0.7528	L	0.50333	1.59	0.09310	N	0.999995	D;D	0.76494	0.993;0.999	P;P	0.60236	0.733;0.871	D	0.89486	0.3753	9	0.40728	T	0.16	.	16.8641	0.86025	0.825:0.0:0.0:0.175	.	44;44	P42771;G3XAG3	CD2A1_HUMAN;.	C	44	ENSP00000307101:Y44C;ENSP00000394932:Y44C	ENSP00000307101:Y44C	Y	-	2	0	CDKN2A	21964696	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.705000	0.01896	-2.207000	0.00740	0.533000	0.62120	TAC		0.687	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		38	135	0	0	0	0	38	135				
TAF1L	138474	broad.mit.edu	37	9	32630264	32630264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:32630264C>T	ENST00000242310.4	-	1	5403	c.5314G>A	c.(5314-5316)Gat>Aat	p.D1772N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1772					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.D1772N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCCTCATCATCTTCTCCT	0.463																																						uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(5314-5316)GAT>AAT		TBP-associated factor RNA polymerase 1-like							275.0	237.0	250.0					9																	32630264		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630264C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5314G>A	9.37:g.32630264C>T	ENSP00000418379:p.Asp1772Asn						p.D1772N	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	5404	-			1772					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.5314G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836965	0.71373	.	.	ENSG00000122728	ENST00000242310	T	0.15017	2.46	1.16	1.16	0.20824	.	0.046885	0.85682	D	0.000000	T	0.22704	0.0548	L	0.57536	1.79	0.52501	D	0.999952	P	0.47962	0.903	P	0.49953	0.627	T	0.02121	-1.1210	10	0.72032	D	0.01	.	8.1579	0.31180	0.0:1.0:0.0:0.0	.	1772	Q8IZX4	TAF1L_HUMAN	N	1772	ENSP00000418379:D1772N	ENSP00000418379:D1772N	D	-	1	0	TAF1L	32620264	1.000000	0.71417	0.992000	0.48379	0.286000	0.27126	2.921000	0.48852	0.507000	0.28148	0.195000	0.17529	GAT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			25	103	0	0	0	0	25	103				
SPATA31A6	389730	broad.mit.edu	37	9	43627785	43627785	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:43627785G>T	ENST00000332857.6	-	4	930	c.902C>A	c.(901-903)cCt>cAt	p.P301H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	301					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGGGAAAGAGGATCTTGCTG	0.547																																						uc011lrb.1		NA																	0					0						c.(901-903)CCT>CAT		hypothetical protein LOC389730							3.0	3.0	3.0					9																	43627785		555	1419	1974	SO:0001583	missense	389730					integral to membrane		g.chr9:43627785G>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.902C>A	9.37:g.43627785G>T	ENSP00000329825:p.Pro301His						p.P301H	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	931	-			301						Missense_Mutation	SNP	ENST00000332857.6	37	c.902C>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.100181	0.00360	.	.	ENSG00000185775	ENST00000332857	T	0.03272	3.99	1.85	1.85	0.25348	.	1.257310	0.05490	N	0.556480	T	0.01353	0.0044	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46345	-0.9198	10	0.14252	T	0.57	-0.9104	4.8878	0.13712	0.0:0.0:0.323:0.677	.	301	Q5VVP1	F75A6_HUMAN	H	301	ENSP00000329825:P301H	ENSP00000329825:P301H	P	-	2	0	FAM75A6	43567781	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	-0.173000	0.09854	0.179000	0.19938	-0.930000	0.02707	CCT		0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	149	1	0	3.6e-05	4.97e-05	6	149				
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:90296352C>T	ENST00000408954.3	+	20	2370	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*|DAPK1_ENST00000469640.2_Nonsense_Mutation_p.R679*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGCAGCTCCGACCCACACA	0.502									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2		NA																	0				ovary(1)|breast(1)	2						c.(2035-2037)CGA>TGA		death-associated protein kinase 1							106.0	111.0	109.0					9																	90296352		1996	4187	6183	SO:0001587	stop_gained	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296352C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2035C>T	9.37:g.90296352C>T	ENSP00000386135:p.Arg679*					DAPK1_uc004apd.2_Nonsense_Mutation_p.R679*|DAPK1_uc011ltg.1_Nonsense_Mutation_p.R679*|DAPK1_uc011lth.1_Nonsense_Mutation_p.R416*|DAPK1_uc004apf.1_Nonsense_Mutation_p.R233*	p.R679*	NM_004938	NP_004929	P53355	DAPK1_HUMAN			20	2173	+			679					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Nonsense_Mutation	SNP	ENST00000408954.3	37	c.2035C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	41	8.940517	0.99010	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	.	.	.	5.17	3.34	0.38264	.	0.000000	0.42420	D	0.000720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	7.1402	0.25552	0.4506:0.4684:0.0:0.081	.	.	.	.	X	679	.	ENSP00000350785:R679X	R	+	1	2	DAPK1	89486172	0.848000	0.29623	0.868000	0.34077	0.941000	0.58515	1.381000	0.34362	0.782000	0.33613	0.561000	0.74099	CGA		0.502	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		32	136	0	0	0	0	32	136				
SHC3	53358	broad.mit.edu	37	9	91653163	91653163	+	Silent	SNP	G	G	T	rs146503115		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:91653163G>T	ENST00000375835.4	-	11	1707	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P	SHC3_ENST00000375830.1_Silent_p.P15P|SHC3_ENST00000375831.1_Silent_p.P15P	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	467	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGCTTAACACGGGCCCCAAGG	0.502																																						uc004aqg.2		NA																	0				lung(3)|skin(1)	4						c.(1399-1401)CCC>CCA		src homology 2 domain-containing transforming							77.0	81.0	80.0					9																	91653163		2203	4300	6503	SO:0001819	synonymous_variant	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91653163G>T	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1401C>A	9.37:g.91653163G>T							p.P467P	NM_016848	NP_058544	Q92529	SHC3_HUMAN			11	1708	-			467			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	c.1401C>A	CCDS6681.1																																																																																				0.502	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		19	69	1	0	2.46e-09	3.6e-09	19	69				
DFNB31	25861	broad.mit.edu	37	9	117187294	117187294	+	Missense_Mutation	SNP	C	C	T	rs138164522		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:117187294C>T	ENST00000362057.3	-	5	1345	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	DFNB31_ENST00000265134.6_Missense_Mutation_p.D10N|DFNB31_ENST00000374059.3_Missense_Mutation_p.D42N	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	393					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTGTGAGATCGCCAAGAAAC	0.537																																						uc004biz.3		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1177-1179)GAT>AAT		CASK-interacting protein CIP98 isoform 1							205.0	184.0	191.0					9																	117187294		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117187294C>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1177G>A	9.37:g.117187294C>T	ENSP00000354623:p.Asp393Asn					DFNB31_uc004bix.2_Missense_Mutation_p.D42N|DFNB31_uc004biy.3_Missense_Mutation_p.D10N|DFNB31_uc004bja.3_Missense_Mutation_p.D393N	p.D393N	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			5	1826	-			393					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.1177G>A	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319538	0.23994	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.07908	3.94;3.77;3.15	4.76	3.87	0.44632	.	0.264540	0.36134	N	0.002773	T	0.08044	0.0201	L	0.41710	1.295	0.80722	D	1	B;B;B	0.25850	0.027;0.012;0.136	B;B;B	0.19148	0.004;0.007;0.024	T	0.14008	-1.0488	10	0.54805	T	0.06	-6.9977	11.2417	0.48972	0.0:0.913:0.0:0.087	.	393;393;42	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	N	10;42;393	ENSP00000265134:D10N;ENSP00000363172:D42N;ENSP00000354623:D393N	ENSP00000265134:D10N	D	-	1	0	DFNB31	116227115	0.844000	0.29557	0.757000	0.31301	0.089000	0.18198	2.655000	0.46707	1.149000	0.42402	0.561000	0.74099	GAT		0.537	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		30	90	0	0	0	0	30	90				
ODF2	4957	broad.mit.edu	37	9	131254985	131254985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:131254985G>A	ENST00000434106.3	+	16	2016	c.1653G>A	c.(1651-1653)atG>atA	p.M551I	ODF2_ENST00000444119.2_Missense_Mutation_p.M527I|ODF2_ENST00000351030.3_Missense_Mutation_p.M546I|ODF2_ENST00000604420.1_Missense_Mutation_p.M551I|ODF2_ENST00000448249.3_Missense_Mutation_p.M470I|ODF2_ENST00000393527.3_Missense_Mutation_p.M527I|ODF2_ENST00000546203.1_Missense_Mutation_p.M532I|ODF2_ENST00000372791.3_Missense_Mutation_p.M532I|ODF2_ENST00000372807.5_Missense_Mutation_p.M546I|ODF2_ENST00000393533.2_Missense_Mutation_p.M551I|ODF2_ENST00000372814.3_Missense_Mutation_p.M595I	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	551					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCTAGGTGATGAAGACCAGAT	0.483																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(1651-1653)ATG>ATA		outer dense fiber of sperm tails 2 isoform 1							156.0	134.0	141.0					9																	131254985		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131254985G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1653G>A	9.37:g.131254985G>A	ENSP00000403453:p.Met551Ile					ODF2_uc011maz.1_Missense_Mutation_p.M551I|ODF2_uc011mbb.1_Missense_Mutation_p.M485I|ODF2_uc011mbc.1_Missense_Mutation_p.M470I|ODF2_uc004bva.2_Missense_Mutation_p.M504I|ODF2_uc004bvb.2_Missense_Mutation_p.M527I|ODF2_uc011mbe.1_Missense_Mutation_p.M546I|ODF2_uc004bvc.2_Missense_Mutation_p.M527I|ODF2_uc011mbf.1_Missense_Mutation_p.M532I|ODF2_uc004bvd.3_Missense_Mutation_p.M551I|ODF2_uc004bve.2_Missense_Mutation_p.M532I	p.M551I	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			16	1964	+			551			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1653G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116570	0.56505	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;T;T;T;D;T;T	0.82619	1.02;-1.63;1.02;1.02;1.98;-1.63;1.02;1.02	5.53	5.53	0.82687	.	0.483471	0.25186	N	0.032486	T	0.73110	0.3545	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B;B;B	0.24920	0.092;0.052;0.092;0.09;0.114;0.092;0.09;0.09	B;B;B;B;B;B;B;B	0.26416	0.033;0.069;0.057;0.069;0.046;0.033;0.069;0.069	T	0.69053	-0.5247	10	0.44086	T	0.13	-14.4763	16.7784	0.85558	0.0:0.0:1.0:0.0	.	532;546;470;485;551;532;551;527	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	I	551;595;546;551;527;470;532;532	ENSP00000377166:M551I;ENSP00000361901:M595I;ENSP00000342581:M546I;ENSP00000361882:M551I;ENSP00000307781:M527I;ENSP00000396687:M470I;ENSP00000437579:M532I;ENSP00000361877:M532I	ENSP00000307781:M527I	M	+	3	0	ODF2	130294806	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.930000	0.56522	2.879000	0.98667	0.650000	0.86243	ATG		0.483	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			6	31	0	0	0	0	6	31				
ODF2	4957	broad.mit.edu	37	9	131254993	131254993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:131254993G>A	ENST00000434106.3	+	16	2024	c.1661G>A	c.(1660-1662)aGa>aAa	p.R554K	ODF2_ENST00000444119.2_Missense_Mutation_p.R530K|ODF2_ENST00000351030.3_Missense_Mutation_p.R549K|ODF2_ENST00000604420.1_Missense_Mutation_p.R554K|ODF2_ENST00000448249.3_Missense_Mutation_p.R473K|ODF2_ENST00000393527.3_Missense_Mutation_p.R530K|ODF2_ENST00000546203.1_Missense_Mutation_p.R535K|ODF2_ENST00000372791.3_Missense_Mutation_p.R535K|ODF2_ENST00000372807.5_Missense_Mutation_p.R549K|ODF2_ENST00000393533.2_Missense_Mutation_p.R554K|ODF2_ENST00000372814.3_Missense_Mutation_p.R598K	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	554					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATGAAGACCAGATTGGAGGCT	0.473																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(1660-1662)AGA>AAA		outer dense fiber of sperm tails 2 isoform 1							154.0	131.0	139.0					9																	131254993		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131254993G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1661G>A	9.37:g.131254993G>A	ENSP00000403453:p.Arg554Lys					ODF2_uc011maz.1_Missense_Mutation_p.R554K|ODF2_uc011mbb.1_Missense_Mutation_p.R488K|ODF2_uc011mbc.1_Missense_Mutation_p.R473K|ODF2_uc004bva.2_Missense_Mutation_p.R507K|ODF2_uc004bvb.2_Missense_Mutation_p.R530K|ODF2_uc011mbe.1_Missense_Mutation_p.R549K|ODF2_uc004bvc.2_Missense_Mutation_p.R530K|ODF2_uc011mbf.1_Missense_Mutation_p.R535K|ODF2_uc004bvd.3_Missense_Mutation_p.R554K|ODF2_uc004bve.2_Missense_Mutation_p.R535K	p.R554K	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			16	1972	+			554			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.1661G>A	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470391	0.63625	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;T;T;T;D;T;T	0.81499	0.96;-1.5;0.96;0.96;1.9;-1.5;0.96;0.96	5.53	5.53	0.82687	.	0.047323	0.85682	D	0.000000	T	0.71525	0.3350	L	0.42245	1.32	0.80722	D	1	P;P;P;P;P;P;P;P	0.40619	0.454;0.565;0.639;0.514;0.514;0.454;0.724;0.698	B;B;B;B;B;B;B;B	0.38880	0.079;0.161;0.172;0.119;0.079;0.079;0.284;0.112	T	0.66850	-0.5819	10	0.13108	T	0.6	-21.2359	12.0522	0.53513	0.0805:0.0:0.9195:0.0	.	535;549;473;488;554;535;554;530	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	K	554;598;549;554;530;473;535;535	ENSP00000377166:R554K;ENSP00000361901:R598K;ENSP00000342581:R549K;ENSP00000361882:R554K;ENSP00000307781:R530K;ENSP00000396687:R473K;ENSP00000437579:R535K;ENSP00000361877:R535K	ENSP00000307781:R530K	R	+	2	0	ODF2	130294814	1.000000	0.71417	0.955000	0.39395	0.994000	0.84299	3.882000	0.56160	2.879000	0.98667	0.650000	0.86243	AGA		0.473	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			6	29	0	0	0	0	6	29				
LAMC3	10319	broad.mit.edu	37	9	133967144	133967145	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:133967144_133967145CC>AA	ENST00000361069.4	+	28	4831_4832	c.4698_4699CC>AA	c.(4696-4701)agCCtg>agAAtg	p.1566_1567SL>RM	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1566	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTCTGCACAGCCTGCCCGAGAA	0.634																																						uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(4696-4701)AGCCTG>AGAATG		laminin, gamma 3 precursor																																				SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133967144_133967145CC>AA	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	Exception_encountered	9.37:g.133967144_133967145delinsAA	ENSP00000354360:p.S1566_L1567delinsRM					LAMC3_uc010mze.1_Missense_Mutation_p.254_255SL>RM	p.1566_1567SL>RM	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	28	4796_4797	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1566_1567			Domain II and I.|Potential.		B1APX9|B1APY0|Q59H72	Missense_Mutation	DNP	ENST00000361069.4	37	c.4698_4699CC>AA	CCDS6938.1																																																																																				0.634	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		11	27	0	0	0	0	11	27				
C9orf171	389799	broad.mit.edu	37	9	135413023	135413023	+	Missense_Mutation	SNP	G	G	T	rs375659445		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:135413023G>T	ENST00000343036.2	+	5	716	c.668G>T	c.(667-669)cGg>cTg	p.R223L	C9orf171_ENST00000393216.2_Missense_Mutation_p.R187L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	223								p.R223Q(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCAGCACCGGTACCTGCAG	0.572																																						uc004cbn.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|large_intestine(1)	5						c.(667-669)CGG>CTG		hypothetical protein LOC389799							103.0	104.0	104.0					9																	135413023		2203	4300	6503	SO:0001583	missense	389799							g.chr9:135413023G>T	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.668G>T	9.37:g.135413023G>T	ENSP00000343290:p.Arg223Leu					C9orf171_uc004cbo.2_Missense_Mutation_p.R187L	p.R223L	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			5	716	+			223					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.668G>T	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029059	0.75504	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.24151	1.87;1.87	5.36	2.13	0.27403	.	0.236354	0.30920	N	0.008601	T	0.35770	0.0943	L	0.54323	1.7	0.31436	N	0.672545	P;D	0.64830	0.891;0.994	P;P	0.59889	0.616;0.865	T	0.38757	-0.9646	10	0.72032	D	0.01	.	7.2066	0.25911	0.4083:0.0:0.5917:0.0	.	187;223	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	L	223;187	ENSP00000343290:R223L;ENSP00000376909:R187L	ENSP00000343290:R223L	R	+	2	0	C9orf171	134402844	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.008000	0.29872	0.640000	0.30582	0.591000	0.81541	CGG		0.572	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		21	94	1	0	5.45e-15	8.17e-15	21	94				
PPP1R26	9858	broad.mit.edu	37	9	138379081	138379081	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:138379081G>C	ENST00000356818.2	+	4	3274	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	PPP1R26_ENST00000605660.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000604351.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000401470.3_Missense_Mutation_p.E909Q	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	909					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TCGAGGCACAGAGAGCGCAGG	0.706																																						uc004cfr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2725-2727)GAG>CAG		1A6/DRIM (down-regulated in metastasis)							36.0	44.0	41.0					9																	138379081		2099	4090	6189	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379081G>C	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2725G>C	9.37:g.138379081G>C	ENSP00000349274:p.Glu909Gln						p.E909Q	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	3274	+			909					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.2725G>C	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243885	0.22796	.	.	ENSG00000196422	ENST00000356818	T	0.11277	2.79	3.97	3.05	0.35203	.	0.622243	0.13830	N	0.359816	T	0.09730	0.0239	L	0.44542	1.39	0.09310	N	1	D	0.52996	0.957	P	0.45343	0.477	T	0.14062	-1.0486	10	0.15499	T	0.54	-14.0926	5.9633	0.19310	0.1131:0.1924:0.6945:0.0	.	909	Q5T8A7	PPR26_HUMAN	Q	909	ENSP00000349274:E909Q	ENSP00000349274:E909Q	E	+	1	0	KIAA0649	137518902	0.004000	0.15560	0.005000	0.12908	0.115000	0.19883	1.034000	0.30204	1.738000	0.51689	0.462000	0.41574	GAG		0.706	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		17	85	0	0	0	0	17	85				
MXRA5	25878	broad.mit.edu	37	X	3238066	3238066	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:3238066C>A	ENST00000217939.6	-	5	5814	c.5660G>T	c.(5659-5661)tGg>tTg	p.W1887L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1887	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AACCTTTGTCCAAGTAACGAA	0.393																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(5659-5661)TGG>TTG		adlican precursor							74.0	60.0	65.0					X																	3238066		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238066C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5660G>T	X.37:g.3238066C>A	ENSP00000217939:p.Trp1887Leu						p.W1887L	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5817	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1887			Ig-like C2-type 3.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5660G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022516	0.54683	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.96265	-3.96	3.51	3.51	0.40186	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36815	U	0.002395	D	0.98692	0.9561	H	0.96662	3.86	0.46298	D	0.998973	D	0.76494	0.999	D	0.76575	0.988	D	0.99764	1.1022	10	0.87932	D	0	.	14.9413	0.70994	0.0:1.0:0.0:0.0	.	1887	Q9NR99	MXRA5_HUMAN	L	1887	ENSP00000217939:W1887L	ENSP00000217939:W1887L	W	-	2	0	MXRA5	3248066	1.000000	0.71417	0.494000	0.27515	0.841000	0.47740	6.493000	0.73658	1.394000	0.46624	0.458000	0.33432	TGG		0.393	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		16	58	1	0	0.00074312	0.000996512	16	58				
ARHGAP6	395	broad.mit.edu	37	X	11197434	11197434	+	Missense_Mutation	SNP	T	T	C	rs147456861		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:11197434T>C	ENST00000337414.4	-	7	2340	c.1468A>G	c.(1468-1470)Atc>Gtc	p.I490V	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.I315V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.I299V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.I490V|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.I522V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.I287V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.I287V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	490	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAGTGTTGATGAAAGCTGTG	0.483																																						uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(1468-1470)ATC>GTC		Rho GTPase activating protein 6 isoform 1		T	VAL/ILE,VAL/ILE,VAL/ILE	1,3834		0,1,1631,571	157.0	127.0	138.0		1468,859,1468	4.6	1.0	X	dbSNP_134	138	0,6728		0,0,2428,1872	no	missense,missense,missense	ARHGAP6	NM_006125.2,NM_013423.2,NM_013427.2	29,29,29	0,1,4059,2443	CC,CT,TT,T		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	490/766,287/772,490/975	11197434	1,10562	2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11197434T>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1468A>G	X.37:g.11197434T>C	ENSP00000338967:p.Ile490Val					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.I490V|ARHGAP6_uc004cum.1_Missense_Mutation_p.I287V|ARHGAP6_uc004cun.1_Missense_Mutation_p.I310V|ARHGAP6_uc010neb.1_Missense_Mutation_p.I312V|ARHGAP6_uc011mif.1_Missense_Mutation_p.I287V	p.I490V	NM_013427	NP_038286	O43182	RHG06_HUMAN			7	2341	-			490			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1468A>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.330035	0.60743	2.61E-4	0.0	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14	5.75	4.55	0.56014	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.113056	0.39083	N	0.001462	T	0.33147	0.0853	L	0.35723	1.085	0.58432	D	0.999998	P;B;P;P;D	0.58620	0.817;0.357;0.901;0.565;0.983	P;B;P;P;D	0.67231	0.5;0.396;0.556;0.627;0.95	T	0.01480	-1.1344	10	0.40728	T	0.16	.	12.0513	0.53507	0.0:0.0:0.1422:0.8578	.	299;287;490;490;490	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	V	315;287;287;490;326;490;299;522	ENSP00000438135:I315V;ENSP00000370112:I287V;ENSP00000302312:I287V;ENSP00000338967:I490V;ENSP00000370093:I326V;ENSP00000370094:I490V;ENSP00000389394:I299V;ENSP00000370108:I522V	ENSP00000302312:I287V	I	-	1	0	ARHGAP6	11107355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.800000	0.69108	0.778000	0.33520	0.481000	0.45027	ATC		0.483	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		29	93	0	0	0	0	29	93				
DMD	1756	broad.mit.edu	37	X	32366610	32366610	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:32366610G>T	ENST00000357033.4	-	38	5567	c.5361C>A	c.(5359-5361)aaC>aaA	p.N1787K	DMD_ENST00000378677.2_Missense_Mutation_p.N1783K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1787	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTATATCTGAGTTAAACTGCT	0.333																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5359-5361)AAC>AAA		dystrophin Dp427m isoform							82.0	75.0	77.0					X																	32366610		2202	4297	6499	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32366610G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5361C>A	X.37:g.32366610G>T	ENSP00000354923:p.Asn1787Lys					DMD_uc004dcw.2_Missense_Mutation_p.N443K|DMD_uc004dcx.2_Missense_Mutation_p.N446K|DMD_uc004dcz.2_Missense_Mutation_p.N1664K|DMD_uc004dcy.1_Missense_Mutation_p.N1783K|DMD_uc004ddb.1_Missense_Mutation_p.N1779K|DMD_uc010ngo.1_Intron	p.N1787K	NM_004006	NP_003997	P11532	DMD_HUMAN			38	5605	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1787			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5361C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482368	0.44147	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000493412	T;T;T	0.60672	0.17;0.18;1.5	5.49	5.49	0.81192	.	0.173392	0.26586	U	0.023544	T	0.33962	0.0881	N	0.08118	0	0.80722	D	1	P;B;P;B;B	0.40731	0.728;0.167;0.608;0.421;0.421	B;B;B;B;B	0.39339	0.297;0.034;0.156;0.037;0.037	T	0.28490	-1.0042	10	0.08179	T	0.78	.	11.9518	0.52959	0.0816:0.0:0.9184:0.0	.	1779;1787;1783;446;443	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1779;446;443;1783;1787;1787;1664;6	ENSP00000367948:N1783K;ENSP00000354923:N1787K;ENSP00000417725:N6K	ENSP00000354923:N1787K	N	-	3	2	DMD	32276531	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.927000	0.63440	2.306000	0.77630	0.462000	0.41574	AAC		0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		9	40	1	0	1.13e-05	1.58e-05	9	40				
XK	7504	broad.mit.edu	37	X	37586996	37586996	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:37586996C>T	ENST00000378616.3	+	3	819	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	206					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGTGAAGCCTCTGGCCTATGT	0.493																																						uc004ddq.2		NA																	0					0						c.(616-618)CTG>TTG		membrane transport protein XK							118.0	93.0	102.0					X																	37586996		2202	4300	6502	SO:0001819	synonymous_variant	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37586996C>T	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.616C>T	X.37:g.37586996C>T							p.L206L	NM_021083	NP_066569	P51811	XK_HUMAN			3	698	+		all_lung(315;0.175)	206			Extracellular (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Silent	SNP	ENST00000378616.3	37	c.616C>T	CCDS14241.1																																																																																				0.493	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		10	39	0	0	0	0	10	39				
ERAS	3266	broad.mit.edu	37	X	48687838	48687838	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:48687838A>T	ENST00000338270.1	+	1	556	c.305A>T	c.(304-306)cAt>cTt	p.H102L	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	102					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CAGGCCATCCATAGGGCCCTG	0.597																																						uc004dky.1		NA																	0				lung(4)|urinary_tract(1)	5						c.(304-306)CAT>CTT		ES cell expressed Ras precursor							93.0	74.0	80.0					X																	48687838		2203	4300	6503	SO:0001583	missense	3266				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chrX:48687838A>T	X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.305A>T	X.37:g.48687838A>T	ENSP00000339136:p.His102Leu						p.H102L	NM_181532	NP_853510	Q7Z444	RASE_HUMAN			1	556	+			102						Missense_Mutation	SNP	ENST00000338270.1	37	c.305A>T	CCDS35246.1	.	.	.	.	.	.	.	.	.	.	a	4.106	0.017848	0.07959	.	.	ENSG00000187682	ENST00000338270	T	0.75821	-0.97	4.84	2.35	0.29111	Small GTP-binding protein domain (1);	0.000000	0.38959	N	0.001506	T	0.46308	0.1386	N	0.03324	-0.35	0.09310	N	1	P	0.38677	0.642	B	0.37508	0.252	T	0.42599	-0.9442	10	0.56958	D	0.05	.	4.1501	0.10234	0.6851:0.2058:0.1091:0.0	.	102	Q7Z444	RASE_HUMAN	L	102	ENSP00000339136:H102L	ENSP00000339136:H102L	H	+	2	0	ERAS	48572782	0.359000	0.24955	0.003000	0.11579	0.002000	0.02628	1.317000	0.33631	0.256000	0.21614	-0.327000	0.08410	CAT		0.597	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532		20	83	0	0	0	0	20	83				
WNK3	65267	broad.mit.edu	37	X	54337720	54337720	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:54337720C>G	ENST00000375159.2	-	2	541	c.542G>C	c.(541-543)cGa>cCa	p.R181P	WNK3_ENST00000354646.2_Missense_Mutation_p.R181P|WNK3_ENST00000375169.3_Missense_Mutation_p.R181P			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGTTAACTTTCGGTCCTGAAA	0.378																																						uc004dtd.1		NA																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(541-543)CGA>CCA		WNK lysine deficient protein kinase 3 isoform 2							79.0	72.0	74.0					X																	54337720		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54337720C>G	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.542G>C	X.37:g.54337720C>G	ENSP00000364301:p.Arg181Pro					WNK3_uc004dtc.1_Missense_Mutation_p.R181P	p.R181P	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			3	981	-			181			Protein kinase.		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.542G>C	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269242	0.80469	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.66460	-0.21;-0.21;-0.21	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110713	0.39544	N	0.001337	T	0.76800	0.4038	L	0.42245	1.32	0.48762	D	0.999705	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.78713	-0.2097	10	0.62326	D	0.03	-4.2848	16.6696	0.85262	0.0:1.0:0.0:0.0	.	181;181	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	P	181	ENSP00000364312:R181P;ENSP00000346667:R181P;ENSP00000364301:R181P	ENSP00000346667:R181P	R	-	2	0	WNK3	54354445	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.730000	0.84881	2.282000	0.76494	0.600000	0.82982	CGA		0.378	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		8	18	0	0	0	0	8	18				
RRAGB	10325	broad.mit.edu	37	X	55757890	55757890	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:55757890C>T	ENST00000262850.7	+	6	914	c.471C>T	c.(469-471)agC>agT	p.S157S	RRAGB_ENST00000374941.4_Silent_p.S129S|RRAGB_ENST00000474757.1_3'UTR	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						ATGTGGAGAGCCGCGAACTGG	0.433																																						uc004dup.2		NA																	0					0						c.(469-471)AGC>AGT		Ras-related GTP binding B long isoform							63.0	52.0	56.0					X																	55757890		2203	4300	6503	SO:0001819	synonymous_variant	10325				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding	g.chrX:55757890C>T	X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.471C>T	X.37:g.55757890C>T						RRAGB_uc004duq.2_Silent_p.S129S	p.S157S	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN			6	1122	+			157						Silent	SNP	ENST00000262850.7	37	c.471C>T	CCDS14372.1																																																																																				0.433	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056878.1	NM_016656		3	19	0	0	0	0	3	19				
ACRC	93953	broad.mit.edu	37	X	70824232	70824232	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:70824232G>A	ENST00000373695.1	+	7	1642	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	ACRC_ENST00000373696.3_Missense_Mutation_p.D369N			Q96QF7	ACRC_HUMAN	acidic repeat containing	369						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTCATCTGATGATGCTGGTGA	0.483																																						uc004eae.2		NA																	0				ovary(3)	3						c.(1105-1107)GAT>AAT		ACRC protein							67.0	52.0	57.0					X																	70824232		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824232G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1105G>A	X.37:g.70824232G>A	ENSP00000362799:p.Asp369Asn					BCYRN1_uc011mpt.1_Intron	p.D369N	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1606	+	Renal(35;0.156)		369					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1105G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920498	0.33908	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.34275	1.37;1.37	3.35	-1.6	0.08426	.	.	.	.	.	T	0.20901	0.0503	N	0.24115	0.695	0.09310	N	1	B	0.26081	0.141	B	0.17722	0.019	T	0.13683	-1.0500	9	0.48119	T	0.1	.	7.5736	0.27922	0.6154:0.0:0.3846:0.0	.	369	Q96QF7	ACRC_HUMAN	N	369	ENSP00000362800:D369N;ENSP00000362799:D369N	ENSP00000362799:D369N	D	+	1	0	ACRC	70740957	0.005000	0.15991	0.000000	0.03702	0.034000	0.12701	1.199000	0.32235	-0.594000	0.05836	0.556000	0.70494	GAT		0.483	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			11	43	0	0	0	0	11	43				
MAGEE1	57692	broad.mit.edu	37	X	75649321	75649321	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:75649321C>T	ENST00000361470.2	+	1	1276	c.998C>T	c.(997-999)cCg>cTg	p.P333L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	333	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ACCTCCGTGCCGCCCACCGCC	0.697																																						uc004ecm.1		NA																	0				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(997-999)CCG>CTG		melanoma antigen family E, 1							22.0	21.0	21.0					X																	75649321		2200	4294	6494	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649321C>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.998C>T	X.37:g.75649321C>T	ENSP00000354912:p.Pro333Leu						p.P333L	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	1205	+			333			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.998C>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	7.982	0.751459	0.15778	.	.	ENSG00000198934	ENST00000361470	T	0.10960	2.82	1.95	-2.4	0.06583	.	.	.	.	.	T	0.05502	0.0145	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38650	-0.9651	9	0.59425	D	0.04	.	1.418	0.02306	0.1981:0.4431:0.1936:0.1651	.	333	Q9HCI5	MAGE1_HUMAN	L	333	ENSP00000354912:P333L	ENSP00000354912:P333L	P	+	2	0	MAGEE1	75565725	0.034000	0.19679	0.000000	0.03702	0.001000	0.01503	0.195000	0.17155	-0.754000	0.04715	-0.395000	0.06472	CCG		0.697	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		9	32	0	0	0	0	9	32				
ACSL4	2182	broad.mit.edu	37	X	108926454	108926454	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:108926454A>T	ENST00000469796.2	-	3	658	c.262T>A	c.(262-264)Tcc>Acc	p.S88T	ACSL4_ENST00000348502.6_Missense_Mutation_p.S47T|ACSL4_ENST00000340800.2_Missense_Mutation_p.S88T			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	88					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	CCAAACTTGGATACAGCATGG	0.413																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(262-264)TCC>ACC		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						148.0	136.0	140.0					X																	108926454		2203	4300	6503	SO:0001583	missense	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108926454A>T	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.262T>A	X.37:g.108926454A>T	ENSP00000419171:p.Ser88Thr					ACSL4_uc004eoj.2_Missense_Mutation_p.S47T|ACSL4_uc004eok.2_Missense_Mutation_p.S47T|ACSL4_uc010npp.1_Missense_Mutation_p.S88T	p.S88T	NM_022977	NP_075266	O60488	ACSL4_HUMAN			4	767	-			88			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	ENST00000469796.2	37	c.262T>A	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.727514	0.30593	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800;ENST00000505855;ENST00000502391;ENST00000508092;ENST00000504980	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.6	-4.24	0.03777	.	0.428168	0.27147	N	0.020709	T	0.05044	0.0135	N	0.12569	0.235	0.21553	N	0.999647	B	0.02656	0.0	B	0.01281	0.0	T	0.34153	-0.9840	10	0.36615	T	0.2	-0.614	12.0597	0.53557	0.2452:0.6042:0.0:0.1506	.	88	O60488	ACSL4_HUMAN	T	47;88;88;47;88;88;88	ENSP00000262835:S47T;ENSP00000419171:S88T;ENSP00000339787:S88T;ENSP00000424808:S47T	ENSP00000339787:S88T	S	-	1	0	ACSL4	108813110	0.000000	0.05858	0.463000	0.27130	0.982000	0.71751	-0.478000	0.06575	-0.354000	0.08212	0.425000	0.28330	TCC		0.413	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		35	140	0	0	0	0	35	140				
DCAF12L2	340578	broad.mit.edu	37	X	125299536	125299536	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:125299536G>A	ENST00000360028.2	-	1	398	c.372C>T	c.(370-372)gaC>gaT	p.D124D	DCAF12L2_ENST00000538699.1_Silent_p.D124D			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	124										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGACTGCACGTCCACCACAA	0.642																																						uc004euk.1		NA																	0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(370-372)GAC>GAT		DDB1 and CUL4 associated factor 12-like 2							87.0	77.0	81.0					X																	125299536		2203	4300	6503	SO:0001819	synonymous_variant	340578							g.chrX:125299536G>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.372C>T	X.37:g.125299536G>A							p.D124D	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	399	-			124					B2RN42	Silent	SNP	ENST00000360028.2	37	c.372C>T	CCDS43991.1																																																																																				0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		11	91	0	0	0	0	11	91				
ZNF449	203523	broad.mit.edu	37	X	134493848	134493848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:134493848C>G	ENST00000339249.4	+	4	731	c.591C>G	c.(589-591)ttC>ttG	p.F197L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	197					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACATGAACTTCTCATTGGAGA	0.363																																						uc004eys.2		NA																	0				ovary(2)	2						c.(589-591)TTC>TTG		zinc finger protein 449							127.0	124.0	125.0					X																	134493848		2203	4300	6503	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134493848C>G	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.591C>G	X.37:g.134493848C>G	ENSP00000339585:p.Phe197Leu					ZNF449_uc004eyt.2_Missense_Mutation_p.F77L|ZNF449_uc004eyu.2_Missense_Mutation_p.F3L	p.F197L	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			4	756	+	Acute lymphoblastic leukemia(192;6.56e-05)		197					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.591C>G	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.677929	0.47886	.	.	ENSG00000173275	ENST00000339249	T	0.05025	3.51	4.86	0.598	0.17512	.	0.141903	0.33057	N	0.005334	T	0.02848	0.0085	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.45145	-0.9281	10	0.10111	T	0.7	.	1.3777	0.02224	0.1684:0.4334:0.1632:0.235	.	197	Q6P9G9	ZN449_HUMAN	L	197	ENSP00000339585:F197L	ENSP00000339585:F197L	F	+	3	2	ZNF449	134321514	0.673000	0.27539	0.936000	0.37596	0.333000	0.28666	0.992000	0.29667	0.109000	0.17891	0.529000	0.55759	TTC		0.363	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		33	91	0	0	0	0	33	91				
ATP11C	286410	broad.mit.edu	37	X	138871517	138871517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:138871517C>T	ENST00000327569.3	-	13	1444	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.G446E|ATP11C_ENST00000370543.1_Missense_Mutation_p.G449E|ATP11C_ENST00000361648.2_Missense_Mutation_p.G449E|ATP11C_ENST00000359686.2_Missense_Mutation_p.G449E	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	449					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTTAAAGTTCCATCAGTTTG	0.328																																						uc004faz.2		NA																	0				ovary(5)|large_intestine(3)	8						c.(1345-1347)GGA>GAA		ATPase, class VI, type 11C isoform a							167.0	134.0	146.0					X																	138871517		2203	4298	6501	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138871517C>T	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1346G>A	X.37:g.138871517C>T	ENSP00000332756:p.Gly449Glu					ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.G449E	p.G449E	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			13	1445	-	Acute lymphoblastic leukemia(192;0.000127)		449			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1346G>A	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.005496|4.005496	0.74932|0.74932	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|T;T;T;T;T	.|0.61158	.|0.13;0.13;0.13;0.13;0.13	5.84|5.84	5.84|5.84	0.93424|0.93424	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.494698	.|0.20646	.|N	.|0.088312	T|T	0.60856|0.60856	0.2301|0.2301	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|P;P	.|0.44946	.|0.846;0.763	.|P;P	.|0.51974	.|0.637;0.686	T|T	0.55879|0.55879	-0.8071|-0.8071	5|10	.|0.31617	.|T	.|0.26	.|.	18.0123|18.0123	0.89227|0.89227	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|449;449	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	K|E	25|446;449;449;449;449	.|ENSP00000359588:G446E;ENSP00000355165:G449E;ENSP00000332756:G449E;ENSP00000359574:G449E;ENSP00000352715:G449E	.|ENSP00000332756:G449E	E|G	-|-	1|2	0|0	ATP11C|ATP11C	138699183|138699183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.417000|4.417000	0.59822|0.59822	2.475000|2.475000	0.83589|0.83589	0.529000|0.529000	0.55759|0.55759	GAA|GGA		0.328	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		11	44	0	0	0	0	11	44				
MAGEC2	51438	broad.mit.edu	37	X	141290746	141290746	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:141290746C>G	ENST00000247452.3	-	3	1375	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	343	Interaction with TRIM28.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGACTCTCTCTTCCAC	0.453										HNSCC(46;0.14)																												uc004fbu.1		NA																	0				breast(2)	2						c.(1027-1029)AGA>ACA		melanoma antigen family C, 2							161.0	137.0	145.0					X																	141290746		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141290746C>G	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.1028G>C	X.37:g.141290746C>G	ENSP00000354660:p.Arg343Thr	HNSCC(46;0.14)					p.R343T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	1376	-	Acute lymphoblastic leukemia(192;6.56e-05)		343					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.1028G>C	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	11.28	1.593472	0.28357	.	.	ENSG00000046774	ENST00000247452	T	0.03212	4.01	0.798	-0.22	0.13130	.	1.453810	0.05485	U	0.555486	T	0.14056	0.0340	M	0.85630	2.765	0.09310	N	1	D	0.58620	0.983	P	0.56088	0.791	T	0.15521	-1.0434	9	0.72032	D	0.01	.	.	.	.	.	343	Q9UBF1	MAGC2_HUMAN	T	343	ENSP00000354660:R343T	ENSP00000354660:R343T	R	-	2	0	MAGEC2	141118412	0.000000	0.05858	0.056000	0.19401	0.135000	0.20990	-0.228000	0.09114	-0.175000	0.10725	0.284000	0.19432	AGA		0.453	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		30	135	0	0	0	0	30	135				
SLITRK4	139065	broad.mit.edu	37	X	142717244	142717244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:142717244C>T	ENST00000381779.4	-	2	1906	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E561K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E561K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	561	LRRCT 2.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGCGTCTCACATTTCAGT	0.458																																						uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1681-1683)GAG>AAG		slit and trk like 4 protein precursor							133.0	130.0	131.0					X																	142717244		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717244C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1681G>A	X.37:g.142717244C>T	ENSP00000371198:p.Glu561Lys					SLITRK4_uc004fby.2_Missense_Mutation_p.E561K	p.E561K	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2057	-	Acute lymphoblastic leukemia(192;6.56e-05)		561			Extracellular (Potential).|LRRCT 2.		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1681G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644915	0.14451	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52526	0.66;0.66;0.66	5.41	5.41	0.78517	Cysteine-rich flanking region, C-terminal (1);	0.121334	0.53938	U	0.000050	T	0.40909	0.1136	L	0.42632	1.34	0.52501	D	0.999958	B	0.17852	0.024	B	0.19148	0.024	T	0.26018	-1.0115	10	0.12766	T	0.61	-10.5531	16.9315	0.86191	0.0:1.0:0.0:0.0	.	561	Q8IW52	SLIK4_HUMAN	K	561	ENSP00000371198:E561K;ENSP00000349400:E561K;ENSP00000336627:E561K	ENSP00000336627:E561K	E	-	1	0	SLITRK4	142544910	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	3.284000	0.51708	2.404000	0.81709	0.600000	0.82982	GAG		0.458	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		35	123	0	0	0	0	35	123				
ARHGAP4	393	broad.mit.edu	37	X	153178184	153178184	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:153178184G>C	ENST00000350060.5	-	12	1553	c.1512C>G	c.(1510-1512)ctC>ctG	p.L504L	ARHGAP4_ENST00000370028.3_Silent_p.L544L|ARHGAP4_ENST00000393721.1_Silent_p.L326L|ARHGAP4_ENST00000537206.1_Silent_p.L481L|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Silent_p.L483L	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	504					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					CTCCCCCAAAGAGTCTCTGGT	0.552																																						uc004fjk.1		NA																	0				central_nervous_system(1)	1						c.(1510-1512)CTC>CTG		Rho GTPase activating protein 4 isoform 2							107.0	108.0	107.0					X																	153178184		2203	4300	6503	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153178184G>C	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1512C>G	X.37:g.153178184G>C						ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Silent_p.L481L|ARHGAP4_uc004fjl.1_Silent_p.L544L|ARHGAP4_uc010nup.1_RNA	p.L504L	NM_001666	NP_001657	P98171	RHG04_HUMAN			12	1554	-	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)		504					Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.1512C>G	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	G	9.739	1.164431	0.21538	.	.	ENSG00000089820	ENST00000442172	.	.	.	5.46	3.65	0.41850	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53989	-0.8360	4	.	.	.	.	8.1874	0.31348	0.2693:0.0:0.7307:0.0	.	.	.	.	C	19	.	.	S	-	2	0	ARHGAP4	152831378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.942000	0.29017	1.075000	0.40932	0.525000	0.51046	TCT		0.552	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		33	115	0	0	0	0	33	115				
ARHGAP4	393	broad.mit.edu	37	X	153178994	153178994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:153178994C>T	ENST00000350060.5	-	9	1236	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.G439R|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.G221R|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.G376R|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.G378R	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	399					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					AGCACATCCCCGTCATCCGAG	0.657																																						uc004fjk.1		NA																	0				central_nervous_system(1)	1						c.(1195-1197)GGG>AGG		Rho GTPase activating protein 4 isoform 2							64.0	67.0	66.0					X																	153178994		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153178994C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1195G>A	X.37:g.153178994C>T	ENSP00000203786:p.Gly399Arg					ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Missense_Mutation_p.G376R|ARHGAP4_uc004fjl.1_Missense_Mutation_p.G439R|ARHGAP4_uc010nup.1_RNA	p.G399R	NM_001666	NP_001657	P98171	RHG04_HUMAN			9	1237	-	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)		399					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1195G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	5.840	0.339210	0.11069	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.2	3.41	0.39046	.	0.188600	0.26153	N	0.026030	T	0.28200	0.0696	L	0.39898	1.24	0.09310	N	1	P;P	0.46912	0.809;0.886	B;B	0.36845	0.234;0.157	T	0.16748	-1.0392	10	0.30078	T	0.28	.	2.2886	0.04133	0.1513:0.5234:0.1454:0.1799	.	439;399	Q86UY3;P98171	.;RHG04_HUMAN	R	221;439;399;378;376	ENSP00000377322:G221R;ENSP00000359045:G439R;ENSP00000203786:G399R;ENSP00000359033:G378R;ENSP00000444169:G376R	ENSP00000203786:G399R	G	-	1	0	ARHGAP4	152832188	0.000000	0.05858	0.189000	0.23252	0.337000	0.28794	0.949000	0.29109	0.970000	0.38263	-0.318000	0.08688	GGG		0.657	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		25	68	0	0	0	0	25	68				
ATAD3A	55210	broad.mit.edu	37	1	1463191	1463192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:1463191_1463192insG	ENST00000378755.5	+	14	1692_1693	c.1598_1599insG	c.(1597-1602)gtgagafs	p.R534fs	ATAD3A_ENST00000536055.1_Frame_Shift_Ins_p.R407fs|ATAD3A_ENST00000378756.3_Frame_Shift_Ins_p.R486fs	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	534					cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GAGCGCCTGGTGAGAATGTATT	0.589																																						uc001afz.1		NA																	0				skin(1)	1						c.(1597-1599)GTGfs		ATPase family, AAA domain containing 3A																																				SO:0001589	frameshift_variant	55210						ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr1:1463191_1463192insG	AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"""ATPases / AAA-type"""	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1599dupG	1.37:g.1463192_1463192dupG	ENSP00000368030:p.Arg534fs					ATAD3A_uc001aga.1_Frame_Shift_Ins_p.V485fs|ATAD3A_uc001agb.1_Frame_Shift_Ins_p.V406fs	p.V533fs	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)	14	1692_1693	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	533					B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Frame_Shift_Ins	INS	ENST00000378755.5	37	c.1598_1599insG	CCDS31.1																																																																																				0.589	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000001365.1	NM_018188		24	121	NA	NA	NA	NA	24	121	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067931	190067941	+	Frame_Shift_Del	DEL	TCTGTCCGTTT	TCTGTCCGTTT	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:190067931_190067941delTCTGTCCGTTT	ENST00000367462.3	-	8	1739_1749	c.1508_1518delAAACGGACAGA	c.(1507-1518)aaaacggacagafs	p.KTDR503fs	BRINP3_ENST00000534846.1_Frame_Shift_Del_p.KTDR401fs	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	503					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T504T(1)									CTTCTATTCGTCTGTCCGTTTTCTGCAGCAG	0.498																																						uc001gse.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1507-1518)AAAACGGACAGAfs		family with sequence similarity 5, member C																																				SO:0001589	frameshift_variant	339479					extracellular region		g.chr1:190067931_190067941delTCTGTCCGTTT	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1508_1518delAAACGGACAGA	1.37:g.190067931_190067941delTCTGTCCGTTT	ENSP00000356432:p.Lys503fs					FAM5C_uc010pot.1_Frame_Shift_Del_p.K401fs	p.K503fs	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1740_1750	-	Prostate(682;0.198)		503_506					B3KVP1|B7Z260|O95726|Q2M330	Frame_Shift_Del	DEL	ENST00000367462.3	37	c.1508_1518delAAACGGACAGA	CCDS1373.1																																																																																				0.498	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		17	134	NA	NA	NA	NA	17	134	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82880841	82880841	+	Frame_Shift_Del	DEL	A	A	-	rs368493386		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:82880841delA	ENST00000298281.4	+	8	3916	c.3464delA	c.(3463-3465)catfs	p.H1155fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1155					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTCCAAAGACATGAACAAATA	0.418																																						uc001ozx.3		NA																	0				ovary(1)	1						c.(3463-3465)CATfs		pre-mRNA cleavage complex II protein Pcf11							56.0	51.0	52.0					11																	82880841		1877	4109	5986	SO:0001589	frameshift_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880841delA	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3464delA	11.37:g.82880841delA	ENSP00000298281:p.His1155fs					PCF11_uc010rsu.1_Frame_Shift_Del_p.H1286fs	p.H1155fs	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	3809	+			1155					A6H8W7|O43671|Q6P0X8	Frame_Shift_Del	DEL	ENST00000298281.4	37	c.3464delA	CCDS44689.1																																																																																				0.418	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		16	42	NA	NA	NA	NA	16	42	---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	64061889	64061890	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:64061889_64061890insT	ENST00000324472.4	-	1	467_468	c.284_285insA	c.(283-285)aagfs	p.K95fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	95					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GTTCCTGCACCTTTTCCCGGAG	0.609																																						uc001srp.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(283-285)AAGfs		dpy-19-like 2																																				SO:0001589	frameshift_variant	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64061889_64061890insT		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.285dupA	12.37:g.64061893_64061893dupT	ENSP00000315988:p.Lys95fs					DPY19L2_uc009zqk.1_RNA	p.K95fs	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	1	465_466	-			95					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Frame_Shift_Ins	INS	ENST00000324472.4	37	c.284_285insA	CCDS31851.1																																																																																				0.609	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		8	125	NA	NA	NA	NA	8	125	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30913142	30913143	+	Frame_Shift_Ins	INS	-	-	T	rs535192849		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:30913142_30913143insT	ENST00000383096.3	-	10	1056_1057	c.874_875insA	c.(874-876)atgfs	p.M292fs	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000583930.1_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000406524.2_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000579947.1_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000402325.1_Frame_Shift_Ins_p.M292fs|CCDC178_ENST00000403303.1_Frame_Shift_Ins_p.M292fs			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	292								p.M292fs*3(2)									ATTTACCTCCATTTTTTTTTTA	0.317																																						uc002kxn.2		NA																	2	Deletion - Frameshift(2)		lung(2)	ovary(1)	1						c.(874-876)ATGfs		hypothetical protein LOC374864 isoform 1																																				SO:0001589	frameshift_variant	374864							g.chr18:30913142_30913143insT	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.875dupA	18.37:g.30913152_30913152dupT	ENSP00000372576:p.Met292fs					C18orf34_uc010xbr.1_Frame_Shift_Ins_p.M292fs|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Frame_Shift_Ins_p.M292fs|C18orf34_uc002kxp.2_Frame_Shift_Ins_p.M292fs	p.M292fs	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			9	1016_1017	-			292			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Frame_Shift_Ins	INS	ENST00000383096.3	37	c.874_875insA	CCDS42424.1																																																																																				0.317	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		9	34	NA	NA	NA	NA	9	34	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541705	187541721	+	Frame_Shift_Del	DEL	AAAGGCTCATTGATTGG	AAAGGCTCATTGATTGG	-	rs371979270|rs375293079		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:187541705_187541721delAAAGGCTCATTGATTGG	ENST00000441802.2	-	10	6228_6244	c.6019_6035delCCAATCAATGAGCCTTT	c.(6019-6036)ccaatcaatgagcctttgfs	p.PINEPL2007fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2007	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAAAACAAAGGCTCATTGATTGGATTCCCAATA	0.465										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6019-6036)CCAATCAATGAGCCTTTGfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541705_187541721delAAAGGCTCATTGATTGG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6019_6035delCCAATCAATGAGCCTTT	4.37:g.187541705_187541721delAAAGGCTCATTGATTGG	ENSP00000406229:p.Pro2007fs	HNSCC(5;0.00058)					p.P2007fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6207_6223	-			2007_2012			Extracellular (Potential).|Cadherin 18.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.6019_6035delCCAATCAATGAGCCTTT	CCDS47177.1																																																																																				0.465	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		24	204	NA	NA	NA	NA	24	204	---	---	---	---
SKIV2L2	23517	broad.mit.edu	37	5	54637510	54637510	+	Splice_Site	DEL	T	T	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:54637510delT	ENST00000230640.5	+	7	946	c.692delT	c.(691-693)att>at	p.I231fs	SKIV2L2_ENST00000545714.1_Splice_Site_p.I130fs	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	231	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTCTTTAGATTTTGAGAAGT	0.294																																					Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NA																	0				ovary(1)|skin(1)	2						c.(691-693)ATTfs		superkiller viralicidic activity 2-like 2							81.0	84.0	83.0					5																	54637510		2202	4295	6497	SO:0001630	splice_region_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54637510delT	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.691-1T>-	5.37:g.54637510delT						SKIV2L2_uc011cqi.1_Frame_Shift_Del_p.I130fs	p.I231fs	NM_015360	NP_056175	P42285	SK2L2_HUMAN			7	958	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	231			Helicase ATP-binding.		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Frame_Shift_Del	DEL	ENST00000230640.5	37	c.692delT	CCDS3967.1																																																																																				0.294	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		Frame_Shift_Del	14	33	NA	NA	NA	NA	14	33	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139409118	139409118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:139409118delC	ENST00000277541.6	-	13	2126	c.2051delG	c.(2050-2052)ggcfs	p.G684fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	684	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGGGTTGCCCGCACACTC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2050-2052)GGCfs		notch1 preproprotein							31.0	42.0	39.0					9																	139409118		2136	4247	6383	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139409118delC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2051delG	9.37:g.139409118delC	ENSP00000277541:p.Gly684fs	HNSCC(8;0.001)				NOTCH1_uc004cia.1_5'Flank	p.G684fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	13	2051	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	684			Extracellular (Potential).|EGF-like 18; calcium-binding (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.2051delG	CCDS43905.1																																																																																				0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	24	NA	NA	NA	NA	8	24	---	---	---	---
