#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
PRDM16	63976	broad.mit.edu	37	1	3319474	3319474	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:3319474G>A	ENST00000270722.5	+	6	845	c.796G>A	c.(796-798)Gag>Aag	p.E266K	PRDM16_ENST00000378391.2_Missense_Mutation_p.E266K|PRDM16_ENST00000442529.2_Missense_Mutation_p.E266K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E267K|PRDM16_ENST00000378398.3_Missense_Mutation_p.E267K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E267K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E266K|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	266					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCCTGGCTGAGGAGCTCAA	0.637			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(796-798)GAG>AAG		PR domain containing 16 isoform 1							48.0	59.0	55.0					1																	3319474		2151	4261	6412	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3319474G>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.796G>A	1.37:g.3319474G>A	ENSP00000270722:p.Glu266Lys					PRDM16_uc001akc.2_Missense_Mutation_p.E266K|PRDM16_uc001akd.2_Missense_Mutation_p.E266K|PRDM16_uc001ake.2_Missense_Mutation_p.E266K|PRDM16_uc009vlh.2_5'UTR	p.E266K	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	6	876	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	266					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.796G>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800779	0.70567	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05855	3.38;3.41;3.43;3.43;3.42;3.42;3.43;3.39;3.39	4.32	3.36	0.38483	.	0.441495	0.18103	U	0.151618	T	0.05364	0.0142	L	0.29908	0.895	0.46396	D	0.999026	P;P;P;B	0.39480	0.546;0.675;0.546;0.418	B;B;B;B	0.32864	0.073;0.154;0.108;0.054	T	0.45071	-0.9286	10	0.45353	T	0.12	.	13.3365	0.60520	0.0:0.1606:0.8394:0.0	.	266;266;266;266	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	K	267;267;266;266;266;267;266;82;82;75	ENSP00000426975:E267K;ENSP00000367651:E267K;ENSP00000407968:E266K;ENSP00000405253:E266K;ENSP00000367643:E266K;ENSP00000421400:E267K;ENSP00000270722:E266K;ENSP00000422504:E82K;ENSP00000425796:E75K	ENSP00000270722:E266K	E	+	1	0	PRDM16	3309334	1.000000	0.71417	0.133000	0.22050	0.940000	0.58332	4.917000	0.63369	0.742000	0.32697	0.561000	0.74099	GAG		0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		17	60	0	0	0	0	17	60				
PER3	8863	broad.mit.edu	37	1	7848168	7848168	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:7848168G>T	ENST00000361923.2	+	4	629	c.454G>T	c.(454-456)Gct>Tct	p.A152S	PER3_ENST00000377532.3_Missense_Mutation_p.A152S|PER3_ENST00000377541.1_Missense_Mutation_p.A152S	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	152	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACAGGCTGCTTTGATCCT	0.413																																						uc001aoo.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(454-456)GCT>TCT		period 3							133.0	137.0	136.0					1																	7848168		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7848168G>T	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.454G>T	1.37:g.7848168G>T	ENSP00000355031:p.Ala152Ser					PER3_uc009vmg.1_Missense_Mutation_p.A152S|PER3_uc009vmh.1_Missense_Mutation_p.A152S|PER3_uc001aop.2_Missense_Mutation_p.A152S|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Missense_Mutation_p.A152S	p.A152S	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	4	629	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	152			PAS 1.		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.454G>T	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312185	0.40895	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.31769	1.48;2.82;2.85	5.25	-7.41	0.01392	PAS (1);	0.502966	0.21461	N	0.074177	T	0.21841	0.0526	L	0.47716	1.5	0.09310	N	0.999995	P;B;B;P	0.35844	0.524;0.245;0.36;0.524	B;B;B;B	0.39805	0.182;0.164;0.31;0.182	T	0.10753	-1.0616	10	0.35671	T	0.21	.	9.5113	0.39078	0.1791:0.1752:0.6457:0.0	.	152;152;152;152	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	S	152	ENSP00000366764:A152S;ENSP00000366755:A152S;ENSP00000355031:A152S	ENSP00000355031:A152S	A	+	1	0	PER3	7770755	0.219000	0.23619	0.065000	0.19835	0.982000	0.71751	-0.254000	0.08781	-1.266000	0.02446	-0.157000	0.13467	GCT		0.413	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831		24	107	1	0	2.49e-11	7.78e-11	24	107				
TESK2	10420	broad.mit.edu	37	1	45923296	45923296	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:45923296C>T	ENST00000372086.3	-	2	562	c.162G>A	c.(160-162)acG>acA	p.T54T	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.T54T|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000341771.6_Silent_p.T54T|TESK2_ENST00000451835.2_Silent_p.T54T	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	54					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CATCCAAACGCGTCAGTCTGG	0.453																																						uc001cns.1		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(160-162)ACG>ACA		testis-specific protein kinase 2							123.0	120.0	121.0					1																	45923296		1902	4110	6012	SO:0001819	synonymous_variant	10420				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:45923296C>T	AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.162G>A	1.37:g.45923296C>T						TESK2_uc009vxr.1_Silent_p.T54T|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Silent_p.T54T	p.T54T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN			2	565	-	Acute lymphoblastic leukemia(166;0.155)		54					Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP	ENST00000372086.3	37	c.162G>A	CCDS41323.1																																																																																				0.453	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170		14	59	0	0	0	0	14	59				
ZFYVE9	9372	broad.mit.edu	37	1	52703916	52703916	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:52703916A>T	ENST00000371591.1	+	3	958	c.827A>T	c.(826-828)gAt>gTt	p.D276V	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D276V|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.D276V	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	276					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						CAGGGAACAGATGGATGTCCT	0.443																																						uc001cto.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(826-828)GAT>GTT		zinc finger, FYVE domain containing 9 isoform 3							154.0	161.0	158.0					1																	52703916		2203	4300	6503	SO:0001583	missense	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.chr1:52703916A>T	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.827A>T	1.37:g.52703916A>T	ENSP00000360647:p.Asp276Val					ZFYVE9_uc001ctn.2_Missense_Mutation_p.D276V|ZFYVE9_uc001ctp.2_Missense_Mutation_p.D276V	p.D276V	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	999	+			276					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.827A>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	A	7.087	0.571423	0.13623	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.43	3.21	0.36854	.	0.341686	0.23656	N	0.045861	T	0.28599	0.0708	N	0.12182	0.205	0.46849	D	0.999226	B;B;P	0.46512	0.0;0.001;0.879	B;B;P	0.44897	0.002;0.001;0.463	T	0.05022	-1.0911	10	0.52906	T	0.07	.	4.6562	0.12618	0.5947:0.1591:0.0:0.2462	.	276;276;276	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	V	276	ENSP00000349737:D276V;ENSP00000355358:D276V;ENSP00000287727:D276V;ENSP00000360647:D276V	ENSP00000287727:D276V	D	+	2	0	ZFYVE9	52476504	0.921000	0.31238	0.999000	0.59377	0.538000	0.34931	1.316000	0.33620	2.000000	0.58554	0.460000	0.39030	GAT		0.443	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324		40	194	0	0	0	0	40	194				
DOCK7	85440	broad.mit.edu	37	1	63005304	63005304	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:63005304T>C	ENST00000340370.5	-	26	3136	c.3119A>G	c.(3118-3120)aAt>aGt	p.N1040S	DOCK7_ENST00000251157.5_Missense_Mutation_p.N1071S	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1071					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAGGCTTGTATTGAGTCTCTC	0.343																																						uc001daq.2		NA																	0				ovary(2)	2						c.(3211-3213)AAT>AGT		dedicator of cytokinesis 7							90.0	100.0	97.0					1																	63005304		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63005304T>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3119A>G	1.37:g.63005304T>C	ENSP00000340742:p.Asn1040Ser					DOCK7_uc001dan.2_Missense_Mutation_p.N932S|DOCK7_uc001dao.2_Missense_Mutation_p.N932S|DOCK7_uc001dap.2_Missense_Mutation_p.N1040S|DOCK7_uc001dam.2_Missense_Mutation_p.N251S	p.N1071S	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			27	3246	-			1071					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3212A>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455026	0.84209	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.26660	1.72;1.72	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.75085	2.285	0.80722	D	1	D;D;D;D;D	0.76494	0.985;0.999;0.999;0.991;0.969	D;D;D;D;P	0.71656	0.91;0.974;0.959;0.937;0.835	T	0.51140	-0.8743	10	0.49607	T	0.09	.	15.8711	0.79119	0.0:0.0:0.0:1.0	.	1071;1040;1040;1040;1071	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	S	1071;1071;1040	ENSP00000251157:N1071S;ENSP00000340742:N1040S	ENSP00000251157:N1071S	N	-	2	0	DOCK7	62777892	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.334000	0.79466	0.528000	0.53228	AAT		0.343	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		17	77	0	0	0	0	17	77				
RABGGTB	5876	broad.mit.edu	37	1	76257189	76257189	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:76257189T>C	ENST00000319942.3	+	6	583	c.512T>C	c.(511-513)gTt>gCt	p.V171A	RABGGTB_ENST00000535300.1_5'UTR|SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	171					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						ATCGAATTTGTTTTATCCTGT	0.383																																						uc001dgy.1		NA																	0				ovary(1)	1						c.(511-513)GTT>GCT		RAB geranylgeranyltransferase, beta subunit							175.0	167.0	170.0					1																	76257189		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76257189T>C	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.512T>C	1.37:g.76257189T>C	ENSP00000317473:p.Val171Ala					RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Missense_Mutation_p.V125A|RABGGTB_uc001dhc.1_5'Flank	p.V171A	NM_004582	NP_004573	P53611	PGTB2_HUMAN			6	583	+			171			PFTB 4.		Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.512T>C	CCDS669.1	.	.	.	.	.	.	.	.	.	.	T	32	5.134836	0.94517	.	.	ENSG00000137955	ENST00000319942;ENST00000370824	T	0.47869	0.83	5.2	5.2	0.72013	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.86805	2.84	0.80722	D	1	D;D	0.64830	0.994;0.969	D;D	0.68943	0.961;0.934	T	0.74386	-0.3682	10	0.87932	D	0	-23.7323	15.0811	0.72117	0.0:0.0:0.0:1.0	.	171;171	Q59GT6;P53611	.;PGTB2_HUMAN	A	171	ENSP00000317473:V171A	ENSP00000317473:V171A	V	+	2	0	RABGGTB	76029777	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.671000	0.83941	1.961000	0.56991	0.459000	0.35465	GTT		0.383	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		19	70	0	0	0	0	19	70				
NEXN	91624	broad.mit.edu	37	1	78395180	78395180	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:78395180G>C	ENST00000334785.7	+	9	1228	c.1044G>C	c.(1042-1044)agG>agC	p.R348S	NEXN_ENST00000330010.8_Missense_Mutation_p.R284S|NEXN_ENST00000457030.1_Missense_Mutation_p.R334S	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTGAAGCAAGGAGAAATATGG	0.353																																						uc001dic.3		NA																	0				ovary(2)	2						c.(1042-1044)AGG>AGC		nexilin (F actin binding protein)							108.0	108.0	108.0					1																	78395180		1853	4100	5953	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78395180G>C	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.1044G>C	1.37:g.78395180G>C	ENSP00000333938:p.Arg348Ser					NEXN_uc001dia.3_Missense_Mutation_p.R334S|NEXN_uc009wcb.1_Missense_Mutation_p.R270S|NEXN_uc001dib.3_Missense_Mutation_p.R284S|NEXN_uc001did.1_Missense_Mutation_p.R258S|NEXN_uc001dif.1_Missense_Mutation_p.R240S	p.R348S	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	9	1341	+			348			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.1044G>C	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.41|13.41	2.229618|2.229618	0.39399|0.39399	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324	.|T;T;T;T;T	.|0.75938	.|-0.98;-0.52;-0.4;-0.34;-0.86	5.17|5.17	2.22|2.22	0.28083|0.28083	.|.	.|0.360096	.|0.22165	.|N	.|0.063724	T|T	0.65739|0.65739	0.2720|0.2720	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.32918	.|0.168;0.39;0.27;0.168	.|B;B;B;B	.|0.38755	.|0.184;0.281;0.146;0.146	T|T	0.66740|0.66740	-0.5847|-0.5847	5|10	.|0.45353	.|T	.|0.12	-3.3688|-3.3688	9.1294|9.1294	0.36835|0.36835	0.3052:0.0:0.6948:0.0|0.3052:0.0:0.6948:0.0	.|.	.|284;334;348;284	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	A|S	248|284;334;284;348;334	.|ENSP00000383814:R284S;ENSP00000388048:R334S;ENSP00000327363:R284S;ENSP00000333938:R348S;ENSP00000411902:R334S	.|ENSP00000327363:R284S	G|R	+|+	2|3	0|2	NEXN|NEXN	78167768|78167768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	0.634000|0.634000	0.24614|0.24614	0.691000|0.691000	0.31592|0.31592	0.591000|0.591000	0.81541|0.81541	GGA|AGG		0.353	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		14	63	0	0	0	0	14	63				
COL11A1	1301	broad.mit.edu	37	1	103488537	103488537	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:103488537C>G	ENST00000370096.3	-	8	1318	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	COL11A1_ENST00000358392.2_Missense_Mutation_p.E348Q|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.E297Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	336	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTAAATATTTCTTCAACTGGA	0.318																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1006-1008)GAA>CAA		alpha 1 type XI collagen isoform A							50.0	54.0	53.0					1																	103488537		2202	4297	6499	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488537C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1006G>C	1.37:g.103488537C>G	ENSP00000359114:p.Glu336Gln					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.E348Q|COL11A1_uc001dun.2_Missense_Mutation_p.E297Q|COL11A1_uc009weh.2_Intron	p.E336Q	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1324	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	336			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1006G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914029	0.33815	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88664	-2.41;-0.57;-2.4;-0.61	5.67	5.67	0.87782	.	0.819820	0.11221	N	0.586709	D	0.84379	0.5459	L	0.60455	1.87	0.41011	D	0.985006	B;B;B	0.29301	0.081;0.241;0.155	B;B;B	0.34931	0.086;0.192;0.058	T	0.77143	-0.2696	10	0.19590	T	0.45	.	17.9568	0.89072	0.0:1.0:0.0:0.0	.	297;348;336	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	Q	336;348;297;348	ENSP00000359114:E336Q;ENSP00000351163:E348Q;ENSP00000302551:E297Q;ENSP00000408640:E348Q	ENSP00000302551:E297Q	E	-	1	0	COL11A1	103261125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.994000	0.70623	2.669000	0.90835	0.643000	0.83706	GAA		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	42	0	0	0	0	11	42				
RBM15	64783	broad.mit.edu	37	1	110882111	110882111	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:110882111G>A	ENST00000369784.3	+	1	984	c.84G>A	c.(82-84)ggG>ggA	p.G28G	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.G28G|RBM15_ENST00000602849.1_Silent_p.G28G	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	28					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGAGCGCGGGGCGGCGGGTTA	0.662			T	MKL1	acute megakaryocytic leukemia																																	uc001dzl.1		NA		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(82-84)GGG>GGA		RNA binding motif protein 15							15.0	19.0	17.0					1																	110882111		2201	4295	6496	SO:0001819	synonymous_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882111G>A	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.84G>A	1.37:g.110882111G>A						RBM15_uc001dzm.1_Silent_p.G28G|uc001dzj.2_5'Flank	p.G28G	NM_022768	NP_073605	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	167	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	28					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	37	c.84G>A	CCDS822.1																																																																																				0.662	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		6	22	0	0	0	0	6	22				
SETDB1	9869	broad.mit.edu	37	1	150923394	150923394	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:150923394G>A	ENST00000271640.5	+	13	2231	c.2041G>A	c.(2041-2043)Gac>Aac	p.D681N	SETDB1_ENST00000368969.4_Missense_Mutation_p.D681N|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	681					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTATATTTTGGACATCACTTA	0.478																																						uc001evu.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2041-2043)GAC>AAC		SET domain, bifurcated 1 isoform 1							102.0	101.0	101.0					1																	150923394		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150923394G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2041G>A	1.37:g.150923394G>A	ENSP00000271640:p.Asp681Asn					SETDB1_uc009wmf.2_Missense_Mutation_p.D682N|SETDB1_uc001evv.2_Missense_Mutation_p.D681N|SETDB1_uc009wmg.1_Missense_Mutation_p.D681N	p.D681N	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	2231	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		681					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2041G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160053	0.94727	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;D	0.91237	-2.81;-2.81;-2.81	5.66	5.66	0.87406	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.91635	0.999;0.993;0.996	D	0.97862	1.0281	10	0.87932	D	0	.	18.744	0.91785	0.0:0.0:1.0:0.0	.	681;681;681	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	N	681	ENSP00000271640:D681N;ENSP00000357965:D681N;ENSP00000432348:D681N	ENSP00000271640:D681N	D	+	1	0	SETDB1	149190018	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.656000	0.90262	0.655000	0.94253	GAC		0.478	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			14	80	0	0	0	0	14	80				
UBAP2L	9898	broad.mit.edu	37	1	154229858	154229858	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:154229858C>T	ENST00000361546.2	+	19	2432	c.2390C>T	c.(2389-2391)cCg>cTg	p.P797L	UBAP2L_ENST00000428931.1_Missense_Mutation_p.P797L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.P797L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P808L|AL590431.1_ENST00000517008.1_RNA|SNORA58_ENST00000364259.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	797					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGTCCCGCCGTTGTTGCCT	0.473																																						uc001fep.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2389-2391)CCG>CTG		ubiquitin associated protein 2-like isoform a							72.0	76.0	74.0					1																	154229858		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154229858C>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2390C>T	1.37:g.154229858C>T	ENSP00000355343:p.Pro797Leu					UBAP2L_uc009wot.2_Missense_Mutation_p.P797L|UBAP2L_uc010pek.1_Missense_Mutation_p.P789L|UBAP2L_uc010pel.1_Missense_Mutation_p.P807L|UBAP2L_uc010pen.1_Missense_Mutation_p.P711L|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'UTR	p.P797L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		20	2557	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		797					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.2390C>T	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246491	0.80024	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.77486	2.375	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	0.87578	0.995;0.998;0.998;0.998;0.997	T	0.57888	-0.7733	10	0.59425	D	0.04	-2.7475	18.6764	0.91529	0.0:1.0:0.0:0.0	.	711;808;790;797;797	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	L	797;797;293;293;808;797	ENSP00000345308:P797L;ENSP00000389445:P797L;ENSP00000271877:P808L;ENSP00000355343:P797L	ENSP00000271877:P808L	P	+	2	0	UBAP2L	152496482	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	7.294000	0.78760	2.890000	0.99128	0.655000	0.94253	CCG		0.473	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		14	77	0	0	0	0	14	77				
FCRL1	115350	broad.mit.edu	37	1	157773648	157773648	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:157773648C>T	ENST00000368176.3	-	3	373	c.306G>A	c.(304-306)caG>caA	p.Q102Q	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Silent_p.Q102Q|FCRL1_ENST00000491942.1_Silent_p.Q102Q	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	102	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCACATTTATCTGGGATCTCC	0.527																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(304-306)CAG>CAA		Fc receptor-like 1 isoform 1 precursor							110.0	92.0	99.0					1																	157773648		2203	4300	6503	SO:0001819	synonymous_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157773648C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.306G>A	1.37:g.157773648C>T						FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Silent_p.Q102Q|FCRL1_uc001fri.2_Silent_p.Q102Q|FCRL1_uc001frj.2_RNA	p.Q102Q	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	419	-	all_hematologic(112;0.0378)		102			Extracellular (Potential).|Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	c.306G>A	CCDS1170.1																																																																																				0.527	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		16	76	0	0	0	0	16	76				
ABL2	27	broad.mit.edu	37	1	179077340	179077340	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:179077340C>T	ENST00000502732.1	-	12	3265	c.3062G>A	c.(3061-3063)gGa>gAa	p.G1021E	ABL2_ENST00000507173.1_Missense_Mutation_p.G897E|ABL2_ENST00000367623.4_Missense_Mutation_p.G1000E|ABL2_ENST00000504405.1_Missense_Mutation_p.G882E|ABL2_ENST00000344730.3_Missense_Mutation_p.G903E|ABL2_ENST00000408940.3_Missense_Mutation_p.G985E|ABL2_ENST00000512653.1_Missense_Mutation_p.G1006E|ABL2_ENST00000511413.1_Missense_Mutation_p.G918E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1021	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CTTCTTTCCTCCTTCCTGTGT	0.567			T	ETV6	AML																																	uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(3061-3063)GGA>GAA		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						109.0	106.0	107.0					1																	179077340		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077340C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3062G>A	1.37:g.179077340C>T	ENSP00000427562:p.Gly1021Glu					ABL2_uc010pnf.1_Missense_Mutation_p.G918E|ABL2_uc010png.1_Missense_Mutation_p.G897E|ABL2_uc010pnh.1_Missense_Mutation_p.G1000E|ABL2_uc001gmg.3_Missense_Mutation_p.G903E|ABL2_uc001gmi.3_Missense_Mutation_p.G1006E|ABL2_uc001gmh.3_Missense_Mutation_p.G985E|ABL2_uc010pne.1_Missense_Mutation_p.G882E	p.G1021E	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	3349	-			1021			Pro-rich.|F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.3062G>A	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652686	0.47362	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.76968	-1.03;-1.05;-1.05;-1.06;-1.03;-1.04;-1.03;-1.04	5.5	4.58	0.56647	F-actin binding (1);	0.125411	0.35555	N	0.003121	T	0.79885	0.4523	L	0.39898	1.24	0.31084	N	0.711625	P;P;P;B;P;P;P;P	0.52577	0.726;0.493;0.493;0.069;0.954;0.675;0.942;0.493	B;B;B;B;P;B;P;B	0.54590	0.421;0.079;0.124;0.055;0.756;0.295;0.575;0.079	T	0.81417	-0.0942	10	0.52906	T	0.07	.	15.793	0.78380	0.0:0.8637:0.1363:0.0	.	1000;897;918;882;1021;1006;985;903	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	E	1021;985;903;1006;882;1000;897;918	ENSP00000427562:G1021E;ENSP00000386152:G985E;ENSP00000339209:G903E;ENSP00000423578:G1006E;ENSP00000426831:G882E;ENSP00000356595:G1000E;ENSP00000423413:G897E;ENSP00000424697:G918E	ENSP00000339209:G903E	G	-	2	0	ABL2	177343963	0.862000	0.29867	0.997000	0.53966	0.901000	0.52897	3.647000	0.54403	1.428000	0.47296	0.655000	0.94253	GGA		0.567	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		14	120	0	0	0	0	14	120				
HMCN1	83872	broad.mit.edu	37	1	185902690	185902690	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:185902690C>T	ENST00000271588.4	+	11	1791	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P521L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	521	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGCCCCCTCCGGTCATCCAA	0.413																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(1561-1563)CCG>CTG		hemicentin 1 precursor							71.0	69.0	70.0					1																	185902690		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185902690C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1562C>T	1.37:g.185902690C>T	ENSP00000271588:p.Pro521Leu						p.P521L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			11	1791	+			521			Ig-like C2-type 2.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1562C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329635	0.81690	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85324	0.1086	10	0.28530	T	0.3	.	19.7939	0.96471	0.0:1.0:0.0:0.0	.	521	Q96RW7	HMCN1_HUMAN	L	521	ENSP00000271588:P521L;ENSP00000356462:P521L	ENSP00000271588:P521L	P	+	2	0	HMCN1	184169313	1.000000	0.71417	0.978000	0.43139	0.589000	0.36550	7.155000	0.77445	2.668000	0.90789	0.563000	0.77884	CCG		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	29	0	0	0	0	13	29				
TMEM183A	92703	broad.mit.edu	37	1	202984173	202984173	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:202984173G>A	ENST00000367242.3	+	4	604	c.524G>A	c.(523-525)cGa>cAa	p.R175Q	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3	Q8IXX5	T183A_HUMAN	transmembrane protein 183A	175						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			AGGTTGTACCGAAGGTGCGAC	0.463																																						uc001gyu.1		NA																	0					0						c.(523-525)CGA>CAA		transmembrane protein 183B							91.0	83.0	86.0					1																	202984173		2203	4300	6503	SO:0001583	missense	92703					integral to membrane		g.chr1:202984173G>A	BC013073	CCDS1432.1	1q31.1	2008-09-09	2006-12-18	2006-12-18	ENSG00000163444	ENSG00000163444			20173	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 37"""	C1orf37			Standard	NM_138391		Approved		uc001gyu.1	Q8IXX5	OTTHUMG00000042051	ENST00000367242.3:c.524G>A	1.37:g.202984173G>A	ENSP00000356211:p.Arg175Gln					TMEM183A_uc009xai.1_Missense_Mutation_p.R175Q|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Missense_Mutation_p.R174Q|TMEM183A_uc001gyx.1_Missense_Mutation_p.R174Q	p.R175Q	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.18)		4	582	+			175					A8K5W1|Q6NW15|Q96E06	Missense_Mutation	SNP	ENST00000367242.3	37	c.524G>A	CCDS1432.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430507	0.62844	.	.	ENSG00000163444	ENST00000367242	T	0.54675	0.56	5.76	5.76	0.90799	.	0.163045	0.52532	D	0.000061	T	0.60287	0.2257	L	0.58101	1.795	0.52501	D	0.999952	D;D;B;B	0.69078	0.997;0.991;0.013;0.013	P;P;B;B	0.55222	0.771;0.62;0.003;0.003	T	0.62358	-0.6871	10	0.66056	D	0.02	-0.9382	10.4138	0.44309	0.1461:0.0:0.8539:0.0	.	175;175;175;175	A8K5W1;Q8IXX5-2;Q1AE95;Q8IXX5	.;.;T183B_HUMAN;T183A_HUMAN	Q	175	ENSP00000356211:R175Q	ENSP00000356211:R175Q	R	+	2	0	TMEM183A	201250796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.932000	0.56537	2.882000	0.98803	0.655000	0.94253	CGA		0.463	TMEM183A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100129.1	NM_138391		7	43	0	0	0	0	7	43				
USH2A	7399	broad.mit.edu	37	1	216497666	216497666	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:216497666C>G	ENST00000307340.3	-	7	1558	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	USH2A_ENST00000366943.2_Missense_Mutation_p.S391T|USH2A_ENST00000366942.3_Missense_Mutation_p.S391T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	391	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		S -> I (in USH2A; unknown pathological significance). {ECO:0000269|PubMed:15325563}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTTGTGGACTAAAGAACTG	0.318										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	GRCh37	CM044729	USH2A	M		c.(1171-1173)AGT>ACT		usherin isoform B							72.0	75.0	74.0					1																	216497666		2196	4295	6491	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216497666C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1172G>C	1.37:g.216497666C>G	ENSP00000305941:p.Ser391Thr	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.S391T	p.S391T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	7	1559	-			391		S -> I (in USH2A; uncertain pathogenicity).	Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1172G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634808	0.67130	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.78924	-1.22;-1.22;-1.22	5.79	5.79	0.91817	Laminin, N-terminal (3);	0.000000	0.50627	D	0.000101	D	0.88074	0.6339	M	0.81239	2.535	0.48762	D	0.999709	P;D	0.61080	0.859;0.989	P;P	0.62560	0.58;0.904	D	0.87058	0.2151	10	0.44086	T	0.13	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	391;391	O75445-2;O75445	.;USH2A_HUMAN	T	391	ENSP00000305941:S391T;ENSP00000355910:S391T;ENSP00000355909:S391T	ENSP00000305941:S391T	S	-	2	0	USH2A	214564289	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.695000	0.61767	2.739000	0.93911	0.655000	0.94253	AGT		0.318	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		4	24	0	0	0	0	4	24				
OR2T4	127074	broad.mit.edu	37	1	248525032	248525032	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:248525032C>G	ENST00000366475.1	+	1	150	c.150C>G	c.(148-150)ttC>ttG	p.F50L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGACTCTTCAGACAATCCA	0.468																																						uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(148-150)TTC>TTG		olfactory receptor, family 2, subfamily T,							158.0	145.0	149.0					1																	248525032		2203	4299	6502	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525032C>G	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.150C>G	1.37:g.248525032C>G	ENSP00000355431:p.Phe50Leu						p.F50L	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	150	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		50			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.150C>G	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792141	0.31685	.	.	ENSG00000196944	ENST00000366475	T	0.00424	7.45	3.21	-0.468	0.12146	.	0.000000	0.47455	D	0.000231	T	0.00241	0.0007	L	0.35341	1.055	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.47674	-0.9099	10	0.42905	T	0.14	.	1.8565	0.03180	0.1879:0.4723:0.1294:0.2104	.	50	Q8NH00	OR2T4_HUMAN	L	50	ENSP00000355431:F50L	ENSP00000355431:F50L	F	+	3	2	OR2T4	246591655	0.000000	0.05858	0.216000	0.23742	0.357000	0.29423	-0.262000	0.08682	0.313000	0.23062	0.306000	0.20318	TTC		0.468	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		15	125	0	0	0	0	15	125				
FBXO18	84893	broad.mit.edu	37	10	5951018	5951018	+	Splice_Site	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:5951018G>A	ENST00000362091.4	+	4	999	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	FBXO18_ENST00000379999.5_Splice_Site_p.R346Q|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	295					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AACCTCATACGGTGAGCTTTG	0.478																																						uc001iis.2		NA																	0				ovary(2)|skin(1)	3						c.(883-885)CGA>CAA		F-box only protein, helicase, 18 isoform 2							212.0	193.0	199.0					10																	5951018		2203	4300	6503	SO:0001630	splice_region_variant	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5951018G>A	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.884+1G>A	10.37:g.5951018G>A						FBXO18_uc001iir.2_Missense_Mutation_p.R221Q|FBXO18_uc009xig.2_Missense_Mutation_p.R221Q|FBXO18_uc001iit.2_Missense_Mutation_p.R346Q	p.R295Q	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN			4	979	+			295					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	c.884G>A	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471890	0.84533	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.29	5.29	0.74685	.	0.199121	0.41294	D	0.000910	T	0.69602	0.3129	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;P;P	0.66847	0.947;0.886;0.886	T	0.71241	-0.4651	9	0.59425	D	0.04	-11.52	11.9854	0.53145	0.0799:0.0:0.9201:0.0	.	346;295;221	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	Q	295;32;346;32	.	ENSP00000355415:R295Q	R	+	2	0	FBXO18	5991024	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.216000	0.51176	2.478000	0.83669	0.561000	0.74099	CGA		0.478	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	Missense_Mutation	13	88	0	0	0	0	13	88				
RBM17	84991	broad.mit.edu	37	10	6148125	6148125	+	Silent	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:6148125A>G	ENST00000446108.1	+	5	1073	c.429A>G	c.(427-429)gaA>gaG	p.E143E	RBM17_ENST00000379888.4_Silent_p.E143E	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	143					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						ACAGACATGAAGCAAGTGGGT	0.408																																						uc001ijb.2		NA																	0					0						c.(427-429)GAA>GAG		RNA binding motif protein 17							111.0	101.0	105.0					10																	6148125		2203	4300	6503	SO:0001819	synonymous_variant	84991				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr10:6148125A>G	AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.429A>G	10.37:g.6148125A>G						RBM17_uc010qav.1_Silent_p.E143E	p.E143E	NM_032905	NP_116294	Q96I25	SPF45_HUMAN			5	655	+			143					Q96GY6	Silent	SNP	ENST00000446108.1	37	c.429A>G	CCDS7077.1	.	.	.	.	.	.	.	.	.	.	A	0.465	-0.887085	0.02511	.	.	ENSG00000134453	ENST00000447032	.	.	.	5.31	0.268	0.15626	.	.	.	.	.	T	0.57344	0.2047	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50311	-0.8843	4	.	.	.	-21.6613	9.9392	0.41570	0.6588:0.0:0.3412:0.0	.	.	.	.	R	50	.	.	K	+	2	0	RBM17	6188131	0.996000	0.38824	0.895000	0.35142	0.037000	0.13140	0.391000	0.20784	-0.123000	0.11745	-1.027000	0.02421	AAG		0.408	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1	NM_032905		5	18	0	0	0	0	5	18				
TAF3	83860	broad.mit.edu	37	10	8007660	8007660	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:8007660G>A	ENST00000344293.5	+	3	2393	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	729	Lys-rich.				maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agaagagagagcgagagaaga	0.383																																						uc010qbd.1		NA																	0				ovary(1)	1						c.(2185-2187)GAG>GAA		RNA polymerase II transcription factor TAFII140							22.0	21.0	22.0					10																	8007660		1841	4063	5904	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8007660G>A	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2187G>A	10.37:g.8007660G>A							p.E729E	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	2187	+			729			Lys-rich.		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.2187G>A	CCDS41487.1																																																																																				0.383	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		3	21	0	0	0	0	3	21				
CUBN	8029	broad.mit.edu	37	10	16918966	16918966	+	Silent	SNP	C	C	T	rs576867280		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:16918966C>T	ENST00000377833.4	-	57	9101	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3012	CUB 22. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAGCAGAACCGGCCCAGCGA	0.483													c|||	1	0.000199681	0.0	0.0	5008	,	,		17828	0.0		0.0	False		,,,				2504	0.001					uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(9034-9036)CCG>CCA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						122.0	107.0	112.0					10																	16918966		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16918966C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9036G>A	10.37:g.16918966C>T						CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Silent_p.P368P	p.P3012P	NM_001081	NP_001072	O60494	CUBN_HUMAN			57	9088	-			3012			CUB 22.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9036G>A	CCDS7113.1																																																																																				0.483	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		24	57	0	0	0	0	24	57				
FAM13C	220965	broad.mit.edu	37	10	61012750	61012750	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:61012750T>A	ENST00000373868.2	-	12	1428	c.1341A>T	c.(1339-1341)gaA>gaT	p.E447D	FAM13C_ENST00000468840.2_Missense_Mutation_p.E364D|FAM13C_ENST00000442566.3_Missense_Mutation_p.E468D|FAM13C_ENST00000435852.2_Missense_Mutation_p.E447D|FAM13C_ENST00000373867.3_Missense_Mutation_p.E363D|FAM13C_ENST00000419214.2_Missense_Mutation_p.E349D|FAM13C_ENST00000277705.6_Missense_Mutation_p.E467D	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	447										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGAGTCCTCTTCCTCCTGCT	0.463																																						uc001jkn.2		NA																	0				ovary(2)	2						c.(1339-1341)GAA>GAT		hypothetical protein LOC220965 isoform 1							138.0	130.0	133.0					10																	61012750		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61012750T>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1341A>T	10.37:g.61012750T>A	ENSP00000362975:p.Glu447Asp					FAM13C_uc001jko.2_Missense_Mutation_p.E349D|FAM13C_uc010qid.1_Missense_Mutation_p.E363D|FAM13C_uc010qie.1_Missense_Mutation_p.E364D|FAM13C_uc010qif.1_Missense_Mutation_p.E469D	p.E447D	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			13	1475	-			447					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1341A>T	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741758	0.69304	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.54279	0.69;0.69;0.67;0.76;0.58	5.72	5.72	0.89469	.	0.067561	0.64402	D	0.000011	T	0.61311	0.2337	L	0.55834	1.745	0.43275	D	0.995233	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.87578	0.998;0.998;0.987;0.998	T	0.58956	-0.7544	10	0.09338	T	0.73	-21.3831	9.0688	0.36480	0.0:0.1246:0.0:0.8754	.	447;363;349;447	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	D	363;447;468;467;349;364;447	ENSP00000362975:E447D;ENSP00000395661:E468D;ENSP00000277705:E467D;ENSP00000391993:E349D;ENSP00000392302:E447D	ENSP00000277705:E467D	E	-	3	2	FAM13C	60682756	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.474000	0.35398	2.311000	0.77944	0.533000	0.62120	GAA		0.463	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			13	65	0	0	0	0	13	65				
PBLD	64081	broad.mit.edu	37	10	70044029	70044029	+	Missense_Mutation	SNP	G	G	C	rs183238397		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:70044029G>C	ENST00000358769.2	-	10	974	c.772C>G	c.(772-774)Cga>Gga	p.R258G	PBLD_ENST00000309049.4_Missense_Mutation_p.R258G|PBLD_ENST00000336578.1_Missense_Mutation_p.R225G	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	258					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCTCCTCGGTGGGAACAC	0.423																																						uc001jns.1		NA																	0				skin(2)|ovary(1)	3						c.(772-774)CGA>GGA		MAWD binding protein isoform a							131.0	113.0	119.0					10																	70044029		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70044029G>C	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.772C>G	10.37:g.70044029G>C	ENSP00000351619:p.Arg258Gly					PBLD_uc001jnr.1_Missense_Mutation_p.R225G|PBLD_uc001jnt.1_Missense_Mutation_p.R258G	p.R258G	NM_022129	NP_071412	P30039	PBLD_HUMAN			10	975	-			258					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.772C>G	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988909	0.53934	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049	T;T;T	0.44083	0.93;0.93;0.93	5.76	4.85	0.62838	.	0.000000	0.64402	D	0.000001	T	0.72645	0.3486	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80852	-0.1197	10	0.87932	D	0	-10.5608	14.2312	0.65892	0.0:0.0:0.8506:0.1494	.	258	P30039	PBLD_HUMAN	G	225;258;258	ENSP00000338041:R225G;ENSP00000351619:R258G;ENSP00000308466:R258G	ENSP00000308466:R258G	R	-	1	2	PBLD	69714035	0.989000	0.36119	0.884000	0.34674	0.301000	0.27625	2.013000	0.40942	1.407000	0.46875	0.655000	0.94253	CGA		0.423	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		9	67	0	0	0	0	9	67				
SYNPO2L	79933	broad.mit.edu	37	10	75407451	75407451	+	Silent	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:75407451T>C	ENST00000394810.2	-	4	2108	c.1959A>G	c.(1957-1959)ctA>ctG	p.L653L	SYNPO2L_ENST00000372873.4_Silent_p.L429L	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	653	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTACCAGCGATAGCAGCTCGG	0.632																																						uc001jut.3		NA																	0				ovary(1)	1						c.(1957-1959)CTA>CTG		synaptopodin 2-like isoform a							88.0	104.0	99.0					10																	75407451		2203	4300	6503	SO:0001819	synonymous_variant	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407451T>C	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1959A>G	10.37:g.75407451T>C						SYNPO2L_uc001jus.3_Silent_p.L429L	p.L653L	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN			4	2111	-	Prostate(51;0.0112)		653			Pro-rich.		A5PKV9|Q68A20	Silent	SNP	ENST00000394810.2	37	c.1959A>G	CCDS44438.1																																																																																				0.632	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		31	157	0	0	0	0	31	157				
ZMIZ1	57178	broad.mit.edu	37	10	81058853	81058853	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:81058853C>T	ENST00000334512.5	+	16	2285	c.1713C>T	c.(1711-1713)ggC>ggT	p.G571G		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	571					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G571G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TGCGGGATGGCGTGGTGCTGG	0.647																																						uc001kaf.2		NA																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(2)|breast(1)|skin(1)	4						c.(1711-1713)GGC>GGT		retinoic acid induced 17							84.0	63.0	70.0					10																	81058853		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058853C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1713C>T	10.37:g.81058853C>T						ZMIZ1_uc001kag.2_Silent_p.G447G	p.G571G	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		16	2285	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		571					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.1713C>T	CCDS7357.1																																																																																				0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		5	48	0	0	0	0	5	48				
FGFBP3	143282	broad.mit.edu	37	10	93668075	93668075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:93668075C>A	ENST00000311575.5	-	2	815	c.652G>T	c.(652-654)Gag>Tag	p.E218*	RP11-402D21.2_ENST00000610263.1_RNA	NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	218					positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of vascular permeability (GO:0043117)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				ATGGGTCGCTCCTCGTTGGGG	0.667																																						uc001khq.3		NA																	0					0						c.(652-654)GAG>TAG		fibroblast growth factor binding protein 3							56.0	61.0	59.0					10																	93668075		2203	4300	6503	SO:0001587	stop_gained	143282				positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding	g.chr10:93668075C>A	AK075410	CCDS7418.1	10q23.33	2006-12-14	2006-12-14	2006-12-14	ENSG00000174721	ENSG00000174721			23428	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 13"""	C10orf13			Standard	NM_152429		Approved	MGC39320	uc001khq.4	Q8TAT2	OTTHUMG00000018751	ENST00000311575.5:c.652G>T	10.37:g.93668075C>A	ENSP00000339067:p.Glu218*						p.E218*	NM_152429	NP_689642	Q8TAT2	FGFP3_HUMAN			2	834	-		Colorectal(252;0.162)	218					B2RD68|Q8NBN0	Nonsense_Mutation	SNP	ENST00000311575.5	37	c.652G>T	CCDS7418.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431575	0.96150	.	.	ENSG00000174721	ENST00000311575	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-20.354	13.874	0.63643	0.0:1.0:0.0:0.0	.	.	.	.	X	218	.	ENSP00000339067:E218X	E	-	1	0	FGFBP3	93658055	0.883000	0.30277	0.864000	0.33941	0.131000	0.20780	1.596000	0.36718	2.325000	0.78763	0.655000	0.94253	GAG		0.667	FGFBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049379.1	NM_152429		14	62	1	0	1.58e-08	4.85e-08	14	62				
ZNF518A	9849	broad.mit.edu	37	10	97917279	97917279	+	RNA	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:97917279A>T	ENST00000534948.1	+	0	2057							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCACTGGGCAAGGTAATAGAG	0.403																																						uc001klp.2		NA																	0				ovary(1)	1						c.(1198-1200)CAA>CAT		zinc finger protein 518							72.0	71.0	71.0					10																	97917279		1903	4120	6023			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917279A>T	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917279A>T						ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Missense_Mutation_p.Q400H|ZNF518A_uc001klr.2_Missense_Mutation_p.Q400H	p.Q400H	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	2057	+		Colorectal(252;0.0815)	400					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.1200A>T																																																																																					0.403	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		17	44	0	0	0	0	17	44				
ATRNL1	26033	broad.mit.edu	37	10	117221532	117221532	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr10:117221532C>A	ENST00000355044.3	+	22	3530	c.3404C>A	c.(3403-3405)gCa>gAa	p.A1135E	ATRNL1_ENST00000423111.2_Missense_Mutation_p.A186E|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1135					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACTTTATAGCAAACCCAGAA	0.318																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3403-3405)GCA>GAA		attractin-like 1 precursor							110.0	105.0	107.0					10																	117221532		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117221532C>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3404C>A	10.37:g.117221532C>A	ENSP00000347152:p.Ala1135Glu					ATRNL1_uc010qsm.1_Missense_Mutation_p.A264E|ATRNL1_uc010qsn.1_Intron	p.A1135E	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	22	3790	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1135			Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3404C>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522686	0.85600	.	.	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.55234	0.53;0.53	5.05	5.05	0.67936	.	0.099298	0.64402	D	0.000002	T	0.65059	0.2655	L	0.39633	1.23	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.972;0.994	T	0.61197	-0.7111	10	0.32370	T	0.25	-15.5926	18.7909	0.91974	0.0:1.0:0.0:0.0	.	186;1135	B4DH41;Q5VV63	.;ATRN1_HUMAN	E	1135;186	ENSP00000347152:A1135E;ENSP00000409624:A186E	ENSP00000347152:A1135E	A	+	2	0	ATRNL1	117211522	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.704000	0.84595	2.522000	0.85027	0.650000	0.86243	GCA		0.318	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		5	41	1	0	0.000602214	0.00171236	5	41				
OR51L1	119682	broad.mit.edu	37	11	5020608	5020608	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:5020608G>A	ENST00000321543.1	+	1	396	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATCCACTGCACTACCCCA	0.493																																						uc010qyu.1		NA																	0				skin(1)	1						c.(394-396)CTG>CTA		olfactory receptor, family 51, subfamily L,							339.0	278.0	299.0					11																	5020608		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020608G>A	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.396G>A	11.37:g.5020608G>A							p.L132L	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	396	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	132			Cytoplasmic (Potential).		Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.396G>A	CCDS31369.1																																																																																				0.493	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		33	155	0	0	0	0	33	155				
OR56A4	120793	broad.mit.edu	37	11	6024283	6024283	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:6024283G>A	ENST00000330728.4	-	1	141	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAGTACAGAAACATAAAA	0.433																																						uc010qzv.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(94-96)TTC>TTT		olfactory receptor, family 56, subfamily A,							121.0	126.0	124.0					11																	6024283		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024283G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.96C>T	11.37:g.6024283G>A							p.F32F	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	96	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B9EH17	Silent	SNP	ENST00000330728.4	37	c.96C>T	CCDS31404.1																																																																																				0.433	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		12	45	0	0	0	0	12	45				
SBF2	81846	broad.mit.edu	37	11	9838470	9838470	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:9838470A>G	ENST00000256190.8	-	29	4032	c.3895T>C	c.(3895-3897)Ttc>Ctc	p.F1299L		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1299	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGTTACTGAAGGAGGCCGAG	0.493																																						uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(3895-3897)TTC>CTC		SET binding factor 2							95.0	78.0	84.0					11																	9838470		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9838470A>G	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3895T>C	11.37:g.9838470A>G	ENSP00000256190:p.Phe1299Leu					SBF2_uc001mid.2_5'UTR	p.F1299L	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	29	4033	-			1299			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3895T>C	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	6.172	0.399979	0.11696	.	.	ENSG00000133812	ENST00000256190	D	0.92249	-3.0	5.75	3.38	0.38709	Myotubularin phosphatase domain (1);	0.585362	0.20789	N	0.085656	D	0.86723	0.6001	L	0.49126	1.545	0.29579	N	0.849288	B	0.17268	0.021	B	0.17098	0.017	T	0.72561	-0.4256	10	0.11182	T	0.66	.	8.4583	0.32912	0.8001:0.1319:0.068:0.0	.	1299	Q86WG5	MTMRD_HUMAN	L	1299	ENSP00000256190:F1299L	ENSP00000256190:F1299L	F	-	1	0	SBF2	9795046	1.000000	0.71417	0.973000	0.42090	0.275000	0.26752	3.056000	0.49923	0.422000	0.26005	0.533000	0.62120	TTC		0.493	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		16	47	0	0	0	0	16	47				
ABCC8	6833	broad.mit.edu	37	11	17428228	17428228	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:17428228C>T	ENST00000389817.3	-	26	3338	c.3270G>A	c.(3268-3270)ctG>ctA	p.L1090L	ABCC8_ENST00000302539.4_Silent_p.L1091L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1090	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGGCCACCTTCAGCCCTGTCC	0.612																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(3268-3270)CTG>CTA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						134.0	107.0	116.0					11																	17428228		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428228C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3270G>A	11.37:g.17428228C>T							p.L1090L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3396	-			1090			ABC transmembrane type-1 2.|Helical; Name=13; (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.3270G>A	CCDS31437.1																																																																																				0.612	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		9	46	0	0	0	0	9	46				
SLC17A6	57084	broad.mit.edu	37	11	22397578	22397578	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:22397578A>G	ENST00000263160.3	+	10	1662	c.1225A>G	c.(1225-1227)Aga>Gga	p.R409G		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	409					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTCTCATACTAGAGGGGTAGC	0.383																																						uc001mqk.2		NA																	0				ovary(3)|breast(1)	4						c.(1225-1227)AGA>GGA		solute carrier family 17 (sodium-dependent							167.0	176.0	173.0					11																	22397578		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22397578A>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1225A>G	11.37:g.22397578A>G	ENSP00000263160:p.Arg409Gly						p.R409G	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			10	1638	+			409			Vesicular (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1225A>G	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	A	15.64	2.894376	0.52121	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58358	0.34	6.17	3.67	0.42095	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.042032	0.85682	D	0.000000	T	0.45637	0.1352	L	0.45137	1.4	0.35929	D	0.83237	B	0.02656	0.0	B	0.10450	0.005	T	0.52275	-0.8597	10	0.42905	T	0.14	.	14.296	0.66314	0.756:0.244:0.0:0.0	.	409	Q9P2U8	VGLU2_HUMAN	G	409;297	ENSP00000263160:R409G	ENSP00000263160:R409G	R	+	1	2	SLC17A6	22354154	1.000000	0.71417	0.943000	0.38184	0.990000	0.78478	6.152000	0.71812	1.119000	0.41883	0.533000	0.62120	AGA		0.383	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		32	156	0	0	0	0	32	156				
FNBP4	23360	broad.mit.edu	37	11	47753052	47753052	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:47753052C>G	ENST00000263773.5	-	12	1894	c.1882G>C	c.(1882-1884)Gat>Cat	p.D628H	FNBP4_ENST00000534003.1_5'Flank	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	628	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.					nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTTCACCATCTGGAAACTCC	0.403																																						uc009ylv.2		NA																	0				ovary(1)	1						c.(1882-1884)GAT>CAT		formin binding protein 4							153.0	142.0	145.0					11																	47753052		1865	4117	5982	SO:0001583	missense	23360							g.chr11:47753052C>G	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1882G>C	11.37:g.47753052C>G	ENSP00000263773:p.Asp628His					FNBP4_uc001ngj.2_Missense_Mutation_p.D535H|FNBP4_uc001ngl.2_RNA	p.D628H	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			12	2035	-			628			WW 2.		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.1882G>C	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169643	0.57584	.	.	ENSG00000109920	ENST00000263773	T	0.44482	0.92	6.03	6.03	0.97812	WW/Rsp5/WWP (4);	0.327913	0.35772	N	0.002983	T	0.58278	0.2111	L	0.47190	1.495	0.45899	D	0.998747	D	0.76494	0.999	D	0.64042	0.921	T	0.55860	-0.8074	10	0.62326	D	0.03	-26.1557	18.7374	0.91761	0.0:1.0:0.0:0.0	.	628	Q8N3X1	FNBP4_HUMAN	H	628	ENSP00000263773:D628H	ENSP00000263773:D628H	D	-	1	0	FNBP4	47709628	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.790000	0.69038	2.861000	0.98227	0.655000	0.94253	GAT		0.403	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			14	78	0	0	0	0	14	78				
SCYL1	57410	broad.mit.edu	37	11	65294570	65294570	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:65294570C>T	ENST00000270176.5	+	6	908	c.831C>T	c.(829-831)ctC>ctT	p.L277L	SCYL1_ENST00000527009.1_Silent_p.L134L|SCYL1_ENST00000533862.1_Silent_p.L277L|SCYL1_ENST00000420247.2_Silent_p.L277L|SCYL1_ENST00000279270.6_Silent_p.L277L|SCYL1_ENST00000524944.1_Silent_p.L277L|SCYL1_ENST00000525364.1_Silent_p.L277L	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						AAACCAACCTCTTCCTGGAGG	0.572																																						uc001oea.1		NA																	0				skin(1)	1						c.(829-831)CTC>CTT		SCY1-like 1 isoform A							62.0	66.0	65.0					11																	65294570		1897	4128	6025	SO:0001819	synonymous_variant	57410				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	g.chr11:65294570C>T	AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.831C>T	11.37:g.65294570C>T						SCYL1_uc009yqk.2_Silent_p.L277L|SCYL1_uc001oeb.1_Silent_p.L277L|SCYL1_uc001oec.1_Silent_p.L277L|SCYL1_uc001oed.1_Silent_p.L134L	p.L277L	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN			6	908	+			277			Protein kinase.		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	ENST00000270176.5	37	c.831C>T	CCDS41672.1																																																																																				0.572	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389159.2	NM_020680		8	74	0	0	0	0	8	74				
NPAS4	266743	broad.mit.edu	37	11	66192179	66192179	+	Silent	SNP	C	C	T	rs141846354		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:66192179C>T	ENST00000311034.2	+	7	1994	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	606					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCCTGGTGCCCGAAGGCCTGC	0.587																																						uc001ohx.1		NA																	0					0						c.(1816-1818)CCC>CCT		neuronal PAS domain protein 4		C		1,4399	2.1+/-5.4	0,1,2199	71.0	79.0	76.0		1818	-9.4	0.0	11	dbSNP_134	76	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	NPAS4	NM_178864.3		0,3,6492	TT,TC,CC		0.0233,0.0227,0.0231		606/803	66192179	3,12987	2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192179C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1818C>T	11.37:g.66192179C>T						NPAS4_uc010rpc.1_Silent_p.P396P	p.P606P	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1994	+			606					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1818C>T	CCDS8138.1																																																																																				0.587	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		57	108	0	0	0	0	57	108				
CNTN5	53942	broad.mit.edu	37	11	100169983	100169983	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:100169983G>T	ENST00000524871.1	+	20	2765	c.2475G>T	c.(2473-2475)atG>atT	p.M825I	CNTN5_ENST00000528682.1_Missense_Mutation_p.M825I|CNTN5_ENST00000418526.2_Missense_Mutation_p.M751I|CNTN5_ENST00000279463.3_Missense_Mutation_p.M825I|CNTN5_ENST00000527185.1_Missense_Mutation_p.M825I|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	825	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGGAAAAAATGGTGACATCCT	0.423																																						uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(2473-2475)ATG>ATT		contactin 5 isoform long							66.0	64.0	65.0					11																	100169983		1861	4089	5950	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:100169983G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2475G>T	11.37:g.100169983G>T	ENSP00000435637:p.Met825Ile					CNTN5_uc001pfz.2_Missense_Mutation_p.M825I|CNTN5_uc001pgb.2_Missense_Mutation_p.M751I|CNTN5_uc010ruk.1_Missense_Mutation_p.M96I	p.M825I	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	20	2814	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	825			Fibronectin type-III 2.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.2475G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.428702	0.62844	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	N	0.05487	-0.04	0.80722	D	1	D;D	0.59357	0.982;0.985	D;D	0.72338	0.961;0.977	T	0.57015	-0.7883	10	0.27785	T	0.31	.	18.6488	0.91421	0.0:0.0:1.0:0.0	.	751;825	O94779-2;O94779	.;CNTN5_HUMAN	I	825;825;825;751;825	ENSP00000433575:M825I;ENSP00000436185:M825I;ENSP00000435637:M825I;ENSP00000393229:M751I;ENSP00000279463:M825I	ENSP00000279463:M825I	M	+	3	0	CNTN5	99675193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.738000	0.84966	2.660000	0.90430	0.650000	0.86243	ATG		0.423	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		7	31	1	0	8.13e-05	0.000235885	7	31				
RAD52	5893	broad.mit.edu	37	12	1023104	1023104	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:1023104C>A	ENST00000358495.3	-	11	1289	c.1151G>T	c.(1150-1152)gGa>gTa	p.G384V	RAD52_ENST00000539046.1_Missense_Mutation_p.G307V|RAD52_ENST00000430095.2_Missense_Mutation_p.G384V|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	384					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTCCCAAGATCCAGATTTTGC	0.488								Homologous recombination																														uc001qis.1		NA																	0				central_nervous_system(1)	1						c.(1150-1152)GGA>GTA	Homologous_recombination	RAD52 homolog							190.0	173.0	178.0					12																	1023104		1991	4171	6162	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1023104C>A		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.1151G>T	12.37:g.1023104C>A	ENSP00000351284:p.Gly384Val					RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.G307V|RAD52_uc001qiu.1_Missense_Mutation_p.G384V|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA	p.G384V	NM_134424	NP_602296	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		11	1265	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		384					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.1151G>T	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063340	0.20067	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046	T;T;T	0.31510	1.91;1.91;1.49	4.14	0.818	0.18778	.	0.722469	0.13711	N	0.368075	T	0.24160	0.0585	M	0.67953	2.075	0.09310	N	0.999999	B	0.12630	0.006	B	0.12837	0.008	T	0.28996	-1.0026	10	0.28530	T	0.3	-8.6404	0.7168	0.00933	0.1819:0.3858:0.1777:0.2546	.	384	P43351	RAD52_HUMAN	V	384;384;307	ENSP00000351284:G384V;ENSP00000387901:G384V;ENSP00000445245:G307V	ENSP00000351284:G384V	G	-	2	0	RAD52	893365	0.001000	0.12720	0.004000	0.12327	0.205000	0.24178	0.129000	0.15830	0.143000	0.18926	0.561000	0.74099	GGA		0.488	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		29	65	1	0	3.58e-08	1.09e-07	29	65				
TSPAN9	10867	broad.mit.edu	37	12	3387622	3387622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:3387622G>A	ENST00000011898.5	+	4	260	c.99G>A	c.(97-99)tgG>tgA	p.W33*	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000537971.1_Nonsense_Mutation_p.W33*|TSPAN9_ENST00000407263.1_Nonsense_Mutation_p.W33*	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	33						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TGGGCATCTGGCTCTCCGTGT	0.577																																						uc001qlp.2		NA																	0				ovary(1)	1						c.(97-99)TGG>TGA		tetraspanin 9							212.0	179.0	190.0					12																	3387622		2203	4300	6503	SO:0001587	stop_gained	10867					integral to plasma membrane|membrane fraction		g.chr12:3387622G>A	AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.99G>A	12.37:g.3387622G>A	ENSP00000011898:p.Trp33*						p.W33*	NM_006675	NP_006666	O75954	TSN9_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)		4	246	+			33			Helical; (Potential).		D3DUQ7|Q53FV2|Q6FGJ8	Nonsense_Mutation	SNP	ENST00000011898.5	37	c.99G>A	CCDS8520.1	.	.	.	.	.	.	.	.	.	.	G	34	5.296007	0.95574	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.351	0.83208	0.0:0.0:1.0:0.0	.	.	.	.	X	33	.	ENSP00000011898:W33X	W	+	3	0	TSPAN9	3257883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.456000	0.83038	0.561000	0.74099	TGG		0.577	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317606.2	NM_006675		38	118	0	0	0	0	38	118				
C12orf71	728858	broad.mit.edu	37	12	27235255	27235255	+	Silent	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:27235255C>G	ENST00000429849.2	-	1	192	c.162G>C	c.(160-162)ctG>ctC	p.L54L		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	54										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GGACGGGAGGCAGAAAGTGGA	0.537																																						uc001rhq.2		NA																	0					0						c.(160-162)CTG>CTC		hypothetical protein LOC728858							61.0	60.0	60.0					12																	27235255		1949	4138	6087	SO:0001819	synonymous_variant	728858							g.chr12:27235255C>G		CCDS44851.1	12p11.23	2008-07-25			ENSG00000214700	ENSG00000214700			34452	protein-coding gene	gene with protein product							Standard	NM_001080406		Approved	LOC728858	uc001rhq.3	A8MTZ7	OTTHUMG00000169274	ENST00000429849.2:c.162G>C	12.37:g.27235255C>G							p.L54L	NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN			1	201	-			54						Silent	SNP	ENST00000429849.2	37	c.162G>C	CCDS44851.1																																																																																				0.537	C12orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403258.1	NM_001080406		3	65	0	0	0	0	3	65				
MAP3K12	7786	broad.mit.edu	37	12	53876495	53876495	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:53876495G>T	ENST00000267079.2	-	12	2218	c.1993C>A	c.(1993-1995)Cca>Aca	p.P665T	MAP3K12_ENST00000547035.1_Missense_Mutation_p.P698T|MAP3K12_ENST00000547488.1_Missense_Mutation_p.P698T	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	665	Poly-Pro.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGAGGAGGTGGTTCCCCTTTG	0.672																																						uc001sdm.1		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1993-1995)CCA>ACA		mitogen-activated protein kinase kinase kinase							64.0	71.0	69.0					12																	53876495		2200	4299	6499	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876495G>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1993C>A	12.37:g.53876495G>T	ENSP00000267079:p.Pro665Thr					MAP3K12_uc001sdn.1_Missense_Mutation_p.P698T	p.P665T	NM_006301	NP_006292	Q12852	M3K12_HUMAN			12	2091	-			665			Poly-Pro.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.1993C>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085102	0.36758	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.75821	-0.96;-0.97;-0.97	4.14	4.14	0.48551	.	0.000000	0.42682	D	0.000680	T	0.56601	0.1996	N	0.14661	0.345	0.35833	D	0.825497	B;B	0.30889	0.299;0.198	B;B	0.27500	0.08;0.037	T	0.67329	-0.5698	10	0.59425	D	0.04	.	12.2031	0.54337	0.0:0.0:1.0:0.0	.	698;665	G3V1Y2;Q12852	.;M3K12_HUMAN	T	665;698;698	ENSP00000267079:P665T;ENSP00000449038:P698T;ENSP00000448689:P698T	ENSP00000267079:P665T	P	-	1	0	MAP3K12	52162762	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	4.370000	0.59517	2.604000	0.88044	0.491000	0.48974	CCA		0.672	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		25	94	1	0	1.55e-18	4.93e-18	25	94				
OR6C65	403282	broad.mit.edu	37	12	55794454	55794454	+	Missense_Mutation	SNP	T	T	A	rs373478391		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:55794454T>A	ENST00000379665.2	+	1	241	c.142T>A	c.(142-144)Ttg>Atg	p.L48M		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATGTTAACATTGTCAAATAT	0.299																																						uc010spl.1		NA																	0					0						c.(142-144)TTG>ATG		olfactory receptor, family 6, subfamily C,							58.0	54.0	55.0					12																	55794454		2203	4295	6498	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794454T>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.142T>A	12.37:g.55794454T>A	ENSP00000368986:p.Leu48Met						p.L48M	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	142	+			48			Cytoplasmic (Potential).		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.142T>A	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.937125	0.34189	.	.	ENSG00000205328	ENST00000379665	T	0.03152	4.03	3.93	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28635	U	0.014650	T	0.07188	0.0182	M	0.74881	2.28	0.09310	N	1	P	0.50819	0.939	P	0.47430	0.547	T	0.20974	-1.0259	10	0.66056	D	0.02	.	4.8519	0.13540	0.0:0.3963:0.196:0.4077	.	48	A6NJZ3	O6C65_HUMAN	M	48	ENSP00000368986:L48M	ENSP00000368986:L48M	L	+	1	2	OR6C65	54080721	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.456000	0.02377	0.037000	0.15575	-0.322000	0.08575	TTG		0.299	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			11	19	0	0	0	0	11	19				
ASCL1	429	broad.mit.edu	37	12	103352724	103352724	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:103352724C>G	ENST00000266744.3	+	1	1261	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	234					adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						ACTTCACCAACTGGTTCTGAG	0.617																																						uc001tjr.3		NA																	0					0						c.(700-702)AAC>AAG		achaete-scute complex homolog 1							24.0	25.0	25.0					12																	103352724		2122	4147	6269	SO:0001583	missense	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352724C>G	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.702C>G	12.37:g.103352724C>G	ENSP00000266744:p.Asn234Lys						p.N234K	NM_004316	NP_004307	P50553	ASCL1_HUMAN			1	1273	+			234					A8K3C4|Q9BQ30	Missense_Mutation	SNP	ENST00000266744.3	37	c.702C>G	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223916	0.39300	.	.	ENSG00000139352	ENST00000266744	D	0.98649	-5.05	4.77	2.91	0.33838	.	0.000000	0.85682	U	0.000000	D	0.93880	0.8042	N	0.14661	0.345	0.44771	D	0.997772	P	0.35011	0.48	B	0.27887	0.084	D	0.92064	0.5659	10	0.62326	D	0.03	-12.1032	7.938	0.29941	0.0:0.7344:0.0:0.2656	.	234	P50553	ASCL1_HUMAN	K	234	ENSP00000266744:N234K	ENSP00000266744:N234K	N	+	3	2	ASCL1	101876854	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.299000	0.43611	0.998000	0.38996	0.462000	0.41574	AAC		0.617	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			6	34	0	0	0	0	6	34				
CMKLR1	1240	broad.mit.edu	37	12	108686177	108686177	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr12:108686177G>A	ENST00000312143.7	-	3	926	c.563C>T	c.(562-564)tCc>tTc	p.S188F	CMKLR1_ENST00000550402.1_Missense_Mutation_p.S188F|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S186F|CMKLR1_ENST00000412676.1_Missense_Mutation_p.S188F|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S186F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	188					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.S186F(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTGAAGCAGGATATTTTCCC	0.557																																						uc009zuw.2		NA																	1	Substitution - Missense(1)		skin(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(562-564)TCC>TTC		chemokine-like receptor 1 isoform a							81.0	82.0	82.0					12																	108686177		2086	4206	6292	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686177G>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.563C>T	12.37:g.108686177G>A	ENSP00000311733:p.Ser188Phe					CMKLR1_uc001tmw.2_Missense_Mutation_p.S188F|CMKLR1_uc001tmv.2_Missense_Mutation_p.S186F|CMKLR1_uc009zuv.2_Missense_Mutation_p.S188F	p.S188F	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	754	-			188			Extracellular (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.563C>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.640339	0.00799	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.46	0.941	0.19519	GPCR, rhodopsin-like superfamily (1);	1.428680	0.04922	N	0.455183	T	0.26991	0.0661	L	0.40543	1.245	0.09310	N	1	B	0.13145	0.007	B	0.23018	0.043	T	0.21965	-1.0230	10	0.10111	T	0.7	.	4.7496	0.13054	0.3924:0.1598:0.4478:0.0	.	188	Q99788	CML1_HUMAN	F	188;188;186;186;188	ENSP00000311733:S188F;ENSP00000401293:S188F;ENSP00000380803:S186F;ENSP00000447579:S186F;ENSP00000449716:S188F	ENSP00000311733:S188F	S	-	2	0	CMKLR1	107210307	0.001000	0.12720	0.311000	0.25182	0.107000	0.19398	0.747000	0.26290	0.271000	0.22005	-0.273000	0.10243	TCC		0.557	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			6	41	0	0	0	0	6	41				
CENPJ	55835	broad.mit.edu	37	13	25483949	25483949	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr13:25483949C>T	ENST00000381884.4	-	4	1029	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	CENPJ_ENST00000545981.1_Missense_Mutation_p.E282K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	282					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTACGGTTTTCTTCTTTTAAA	0.358																																						uc001upt.3		NA																	0				ovary(2)	2						c.(844-846)GAA>AAA		centromere protein J																																				SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25483949C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.844G>A	13.37:g.25483949C>T	ENSP00000371308:p.Glu282Lys					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	p.E282K	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	4	1097	-		Lung SC(185;0.0225)|Breast(139;0.0602)	282					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.844G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353205	0.41700	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.38077	1.16;1.72	4.93	4.93	0.64822	.	0.315532	0.26746	N	0.022719	T	0.45377	0.1339	M	0.75447	2.3	0.28458	N	0.916005	P	0.46784	0.884	P	0.46419	0.516	T	0.48198	-0.9056	10	0.40728	T	0.16	.	13.5025	0.61465	0.0:1.0:0.0:0.0	.	282	Q9HC77	CENPJ_HUMAN	K	282	ENSP00000371308:E282K;ENSP00000441090:E282K	ENSP00000371308:E282K	E	-	1	0	CENPJ	24381949	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	1.845000	0.39279	2.582000	0.87167	0.555000	0.69702	GAA		0.358	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		3	14	0	0	0	0	3	14				
KLHL1	57626	broad.mit.edu	37	13	70370888	70370888	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr13:70370888T>C	ENST00000377844.4	-	7	2380	c.1621A>G	c.(1621-1623)Aca>Gca	p.T541A	KLHL1_ENST00000545028.1_Missense_Mutation_p.T348A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	541					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TGTCTGTGTGTTGACATTGGT	0.323																																						uc001vip.2		NA																	0					0						c.(1621-1623)ACA>GCA		kelch-like 1 protein							142.0	124.0	130.0					13																	70370888		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70370888T>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1621A>G	13.37:g.70370888T>C	ENSP00000367075:p.Thr541Ala					KLHL1_uc010thm.1_Missense_Mutation_p.T480A	p.T541A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	7	2415	-		Breast(118;0.000162)	541			Kelch 2.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1621A>G	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.156169	0.57259	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.67171	-0.25;-0.25	5.36	5.36	0.76844	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000011	T	0.77412	0.4126	L	0.59912	1.85	0.52501	D	0.999956	P;D	0.64830	0.946;0.994	P;D	0.63488	0.761;0.915	T	0.78224	-0.2287	10	0.49607	T	0.09	.	15.6348	0.76944	0.0:0.0:0.0:1.0	.	541;541	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	A	541;348	ENSP00000367075:T541A;ENSP00000439602:T348A	ENSP00000367075:T541A	T	-	1	0	KLHL1	69268889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.932000	0.87634	2.151000	0.67156	0.533000	0.62120	ACA		0.323	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		5	48	0	0	0	0	5	48				
SLC7A8	23428	broad.mit.edu	37	14	23608670	23608670	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23608670G>A	ENST00000316902.7	-	6	1600	c.875C>T	c.(874-876)tCc>tTc	p.S292F	SLC7A8_ENST00000422941.2_Missense_Mutation_p.S68F|SLC7A8_ENST00000529705.2_Missense_Mutation_p.S187F|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Missense_Mutation_p.S89F	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	292					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTCCTGGGGGGACATTGCAGT	0.517																																						uc001wiz.2		NA																	0				ovary(1)	1						c.(874-876)TCC>TTC		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						146.0	132.0	137.0					14																	23608670		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23608670G>A	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.875C>T	14.37:g.23608670G>A	ENSP00000320378:p.Ser292Phe					SLC7A8_uc001wix.2_Missense_Mutation_p.S89F|SLC7A8_uc010tnk.1_Missense_Mutation_p.S68F|SLC7A8_uc010tnl.1_Missense_Mutation_p.S187F|SLC7A8_uc001wiy.2_Intron|SLC7A8_uc010akj.2_Intron	p.S292F	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	6	1601	-	all_cancers(95;4.6e-05)		292					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.875C>T	CCDS9590.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438703	0.83885	.	.	ENSG00000092068	ENST00000316902;ENST00000334354;ENST00000453702;ENST00000529705;ENST00000422941;ENST00000206514	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.06	5.06	0.68205	Amino acid permease domain (1);	0.207510	0.49916	D	0.000123	D	0.96519	0.8864	M	0.93106	3.38	0.53688	D	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.997	D	0.97192	0.9858	10	0.87932	D	0	.	18.0892	0.89469	0.0:0.0:1.0:0.0	.	187;68;292	B4DKT4;B4DTV6;Q9UHI5	.;.;LAT2_HUMAN	F	292;89;89;187;68;89	ENSP00000320378:S292F;ENSP00000391577:S89F;ENSP00000434345:S187F;ENSP00000416398:S68F	ENSP00000206514:S89F	S	-	2	0	SLC7A8	22678510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.286000	0.65639	2.733000	0.93635	0.655000	0.94253	TCC		0.517	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			19	130	0	0	0	0	19	130				
MYH7	4625	broad.mit.edu	37	14	23902836	23902836	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:23902836C>T	ENST00000355349.3	-	3	268	c.106G>A	c.(106-108)Gat>Aat	p.D36N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	36					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACGAAGACATCCTTCTTGAGG	0.567																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(106-108)GAT>AAT		myosin, heavy chain 7, cardiac muscle, beta							120.0	103.0	109.0					14																	23902836		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902836C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.106G>A	14.37:g.23902836C>T	ENSP00000347507:p.Asp36Asn						p.D36N	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	3	212	-	all_cancers(95;2.54e-05)		36			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.106G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290577	0.40494	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.77098	-1.07	4.26	3.34	0.38264	Myosin, N-terminal, SH3-like (1);	.	.	.	.	T	0.45558	0.1348	N	0.01168	-0.975	0.33334	D	0.568931	B	0.02656	0.0	B	0.04013	0.001	T	0.51849	-0.8653	9	0.23891	T	0.37	.	4.7585	0.13095	0.1808:0.6371:0.0:0.1821	.	36	P12883	MYH7_HUMAN	N	36	ENSP00000347507:D36N	ENSP00000347507:D36N	D	-	1	0	MYH7	22972676	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	0.515000	0.22801	2.070000	0.61991	0.555000	0.69702	GAT		0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		18	106	0	0	0	0	18	106				
AP1G2	8906	broad.mit.edu	37	14	24030798	24030798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:24030798G>A	ENST00000308724.5	-	17	2535	c.1780C>T	c.(1780-1782)Cag>Tag	p.Q594*	RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000555446.1_RNA|AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q594*|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	594					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TCATCAGCCTGAGGGCCATCT	0.557																																						uc001wkl.2		NA																	0				ovary(1)	1						c.(1780-1782)CAG>TAG		adaptor-related protein complex 1, gamma 2							68.0	58.0	62.0					14																	24030798		2203	4300	6503	SO:0001587	stop_gained	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24030798G>A	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1780C>T	14.37:g.24030798G>A	ENSP00000312442:p.Gln594*					AP1G2_uc001wkj.2_Nonsense_Mutation_p.Q213*|AP1G2_uc001wkk.3_Nonsense_Mutation_p.Q522*|AP1G2_uc001wkn.2_Nonsense_Mutation_p.Q213*|uc001wko.1_RNA|AP1G2_uc001wkp.1_RNA	p.Q594*	NM_003917	NP_003908	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	18	2117	-	all_cancers(95;0.000251)		594					D3DS51|O75504	Nonsense_Mutation	SNP	ENST00000308724.5	37	c.1780C>T	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	G	44	10.805863	0.99470	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852;ENST00000554477	.	.	.	4.9	4.9	0.64082	.	0.260909	0.31847	N	0.006963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-5.7228	15.6147	0.76756	0.0:0.0:1.0:0.0	.	.	.	.	X	594;594;363;449;56	.	ENSP00000312442:Q594X	Q	-	1	0	AP1G2	23100638	0.514000	0.26202	0.105000	0.21289	0.711000	0.40976	2.229000	0.42990	2.566000	0.86566	0.511000	0.50034	CAG		0.557	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		8	36	0	0	0	0	8	36				
ARHGAP5	394	broad.mit.edu	37	14	32561108	32561108	+	Silent	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:32561108A>G	ENST00000345122.3	+	2	1548	c.1233A>G	c.(1231-1233)gaA>gaG	p.E411E	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.E411E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.E411E|ARHGAP5_ENST00000539826.2_Silent_p.E411E	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	411	FF 2.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TAGAAGCTGAAAAAGTCTATC	0.368																																					NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1231-1233)GAA>GAG		Rho GTPase activating protein 5 isoform b							78.0	83.0	81.0					14																	32561108		2203	4298	6501	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561108A>G	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1233A>G	14.37:g.32561108A>G						ARHGAP5_uc001wrm.2_Silent_p.E411E|ARHGAP5_uc001wrn.2_Silent_p.E411E|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.E411E	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1472	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		411			FF 2.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1233A>G	CCDS32062.1																																																																																				0.368	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		37	75	0	0	0	0	37	75				
LRFN5	145581	broad.mit.edu	37	14	42356819	42356819	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:42356819G>T	ENST00000298119.4	+	3	2180	c.991G>T	c.(991-993)Gca>Tca	p.A331S	LRFN5_ENST00000554171.1_Missense_Mutation_p.A331S|LRFN5_ENST00000554120.1_Missense_Mutation_p.A331S	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	331	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TATTTCAAATGCAACAAGATC	0.468										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(991-993)GCA>TCA		leucine rich repeat and fibronectin type III							130.0	126.0	128.0					14																	42356819		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356819G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.991G>T	14.37:g.42356819G>T	ENSP00000298119:p.Ala331Ser	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.A331S	p.A331S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	2189	+			331			Extracellular (Potential).|Ig-like.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.991G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	0.213	-1.035255	0.02029	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.72282	-0.64;-0.64;-0.64	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	T	0.37265	0.0997	N	0.00683	-1.26	0.37279	D	0.907732	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.51379	-0.8713	10	0.02654	T	1	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	331;331	G3V364;Q96NI6	.;LRFN5_HUMAN	S	331	ENSP00000298119:A331S;ENSP00000451897:A331S;ENSP00000451067:A331S	ENSP00000298119:A331S	A	+	1	0	LRFN5	41426569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.051000	0.49885	2.680000	0.91292	0.563000	0.77884	GCA		0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		11	77	1	0	0.000978159	0.00276735	11	77				
FOS	2353	broad.mit.edu	37	14	75746697	75746698	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr14:75746697_75746698CC>AG	ENST00000303562.4	+	2	468_469	c.259_260CC>AG	c.(259-261)CCa>AGa	p.P87R	FOS_ENST00000555686.1_5'UTR|FOS_ENST00000535987.1_Missense_Mutation_p.P87R|FOS_ENST00000554617.1_Missense_Mutation_p.P87R|FOS_ENST00000555242.1_Missense_Mutation_p.P87R|FOS_ENST00000555347.1_5'Flank	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	87					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CTCCGTGGCCCCATCGCAGACC	0.673																																						uc001xrn.2		NA																	0				lung(2)|ovary(1)	3						c.(259-261)CCA>AGA		v-fos FBJ murine osteosarcoma viral oncogene																																				SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75746697_75746698CC>AG	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		Exception_encountered	14.37:g.75746697_75746698delinsAG	ENSP00000306245:p.Pro87Arg					FOS_uc010tva.1_Missense_Mutation_p.P87R|FOS_uc010asi.2_5'UTR|FOS_uc001xro.2_5'Flank	p.P87R	NM_005252	NP_005243	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	2	464_465	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	87					A8K4E2|B4DQ65|P18849	Missense_Mutation	DNP	ENST00000303562.4	37	c.259_260CC>AG	CCDS9841.1																																																																																				0.673	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		8	64	0	0	0	0	8	64				
TP53BP1	7158	broad.mit.edu	37	15	43762178	43762178	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:43762178C>T	ENST00000263801.3	-	11	1504	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	TP53BP1_ENST00000382039.3_Missense_Mutation_p.E423K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E423K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E423K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	418					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGGGGGTTTTCTAACTCCACT	0.483								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(1252-1254)GAA>AAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							174.0	162.0	166.0					15																	43762178		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43762178C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1252G>A	15.37:g.43762178C>T	ENSP00000263801:p.Glu418Lys					TP53BP1_uc010udp.1_Missense_Mutation_p.E418K|TP53BP1_uc001zrq.3_Missense_Mutation_p.E423K|TP53BP1_uc001zrr.3_Missense_Mutation_p.E423K|TP53BP1_uc010udq.1_Missense_Mutation_p.E423K	p.E418K	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	11	1400	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	418					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.1252G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.574339	0.45902	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.13089	3.45;3.45;3.46;3.45;2.62	5.31	5.31	0.75309	.	0.159969	0.38492	N	0.001662	T	0.34019	0.0883	M	0.72118	2.19	0.22226	N	0.999279	D;D;D;D	0.71674	0.997;0.996;0.998;0.998	D;D;D;D	0.78314	0.95;0.932;0.991;0.991	T	0.27502	-1.0072	10	0.15499	T	0.54	-15.481	15.7083	0.77602	0.0:1.0:0.0:0.0	.	423;418;423;423	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	K	418;423;423;423;423	ENSP00000263801:E418K;ENSP00000371475:E423K;ENSP00000371470:E423K;ENSP00000393497:E423K;ENSP00000388028:E423K	ENSP00000263801:E418K	E	-	1	0	TP53BP1	41549470	0.381000	0.25140	0.224000	0.23877	0.136000	0.21042	4.214000	0.58527	2.479000	0.83701	0.563000	0.77884	GAA		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			19	118	0	0	0	0	19	118				
HDC	3067	broad.mit.edu	37	15	50534531	50534531	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:50534531C>T	ENST00000267845.3	-	12	2317	c.1915G>A	c.(1915-1917)Gtc>Atc	p.V639I	HDC_ENST00000543581.1_Missense_Mutation_p.V606I|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.V639F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AAGCTGGGGACGCTGTAGAAT	0.507																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1915-1917)GTC>ATC		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						81.0	82.0	82.0					15																	50534531		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534531C>T		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1915G>A	15.37:g.50534531C>T	ENSP00000267845:p.Val639Ile					HDC_uc001zxy.2_Missense_Mutation_p.V382I|HDC_uc010uff.1_Missense_Mutation_p.V606I	p.V639I	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	2021	-		all_lung(180;0.0138)	639						Missense_Mutation	SNP	ENST00000267845.3	37	c.1915G>A	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533889	0.85812	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.17370	2.67;2.28	5.61	5.61	0.85477	.	0.000000	0.51477	D	0.000088	T	0.32466	0.0830	L	0.27053	0.805	0.50171	D	0.999853	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.06661	-1.0814	10	0.87932	D	0	-40.8107	19.6299	0.95698	0.0:1.0:0.0:0.0	.	606;639	B7ZM01;P19113	.;DCHS_HUMAN	I	639;606	ENSP00000267845:V639I;ENSP00000440252:V606I	ENSP00000267845:V639I	V	-	1	0	HDC	48321823	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.949000	0.75971	2.639000	0.89480	0.655000	0.94253	GTC		0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			23	125	0	0	0	0	23	125				
NPTN	27020	broad.mit.edu	37	15	73925476	73925476	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr15:73925476G>C	ENST00000345330.4	-	1	278	c.81C>G	c.(79-81)gcC>gcG	p.A27A	NPTN_ENST00000562924.1_Silent_p.A27A|NPTN_ENST00000351217.6_Silent_p.A27A|NPTN_ENST00000287226.8_Silent_p.A27A|NPTN_ENST00000542234.1_Silent_p.A27A|NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000563691.1_Silent_p.A27A|NPTN_ENST00000545878.1_Silent_p.A27A	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	27					homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CGTTCTGAGCGGCGCCTGGCC	0.751																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)	uc002avs.2		NA																	0					0						c.(79-81)GCC>GCG		neuroplastin isoform b precursor							13.0	15.0	14.0					15																	73925476		2126	4147	6273	SO:0001819	synonymous_variant	27020				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding	g.chr15:73925476G>C	AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.81C>G	15.37:g.73925476G>C						NPTN_uc010bjc.2_Silent_p.A27A|NPTN_uc002avt.2_Silent_p.A27A|NPTN_uc002avr.2_Silent_p.A27A|NPTN_uc010ula.1_Silent_p.A27A	p.A27A	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN			1	278	-			27					B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Silent	SNP	ENST00000345330.4	37	c.81C>G	CCDS10249.1																																																																																				0.751	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268980.1	NM_012428		15	19	0	0	0	0	15	19				
ARL6IP1	23204	broad.mit.edu	37	16	18806883	18806883	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:18806883C>G	ENST00000304414.7	-	4	522	c.311G>C	c.(310-312)aGa>aCa	p.R104T	RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.R104T|ARL6IP1_ENST00000562819.1_Intron|ARL6IP1_ENST00000546206.2_Missense_Mutation_p.R75T	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	104					cell death (GO:0008219)|cotranslational protein targeting to membrane (GO:0006613)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|Sec61 translocon complex (GO:0005784)				breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						TTCATGGAATCTTTGCTGTTG	0.388																																						uc002dfl.1		NA																	0					0						c.(310-312)AGA>ACA		ADP-ribosylation factor-like 6 interacting							80.0	72.0	75.0					16																	18806883		2197	4300	6497	SO:0001583	missense	23204					integral to membrane	protein binding	g.chr16:18806883C>G	BC010281	CCDS10572.1	16p12-p11.2	2014-03-12	2006-09-26	2006-09-26	ENSG00000170540	ENSG00000170540			697	protein-coding gene	gene with protein product		607669	"""ADP-ribosylation factor-like 6 interacting protein"""	ARL6IP		24482476	Standard	NM_015161		Approved	AIP1, ARMER, KIAA0069, SPG61	uc002dfl.1	Q15041	OTTHUMG00000131367	ENST00000304414.7:c.311G>C	16.37:g.18806883C>G	ENSP00000306788:p.Arg104Thr					ARL6IP1_uc010van.1_Missense_Mutation_p.R75T|ARL6IP1_uc010bvz.1_Intron	p.R104T	NM_015161	NP_055976	Q15041	AR6P1_HUMAN			4	380	-			104						Missense_Mutation	SNP	ENST00000304414.7	37	c.311G>C	CCDS10572.1	.	.	.	.	.	.	.	.	.	.	c	18.56	3.650011	0.67472	.	.	ENSG00000170540	ENST00000304414;ENST00000545430;ENST00000546206	T;T	0.39406	1.08;1.08	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	M	0.67953	2.075	0.80722	D	1	P	0.43477	0.808	B	0.37091	0.241	T	0.41431	-0.9509	10	0.30854	T	0.27	-15.9901	18.9361	0.92586	0.0:1.0:0.0:0.0	.	104	Q15041	AR6P1_HUMAN	T	104;56;75	ENSP00000306788:R104T;ENSP00000440048:R75T	ENSP00000306788:R104T	R	-	2	0	ARL6IP1	18714384	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.965000	0.70387	2.631000	0.89168	0.655000	0.94253	AGA		0.388	ARL6IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254156.2	NM_015161		4	30	0	0	0	0	4	30				
CD2BP2	10421	broad.mit.edu	37	16	30364884	30364884	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:30364884A>C	ENST00000305596.3	-	5	788	c.613T>G	c.(613-615)Ttg>Gtg	p.L205V	CD2BP2_ENST00000569466.1_Missense_Mutation_p.L205V|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	205					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TGGTCGGCCAACCCGGAGAGC	0.657																																						uc002dxr.2		NA																	0				ovary(1)	1						c.(613-615)TTG>GTG		CD2 antigen (cytoplasmic tail) binding protein							34.0	35.0	34.0					16																	30364884		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364884A>C	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.613T>G	16.37:g.30364884A>C	ENSP00000304903:p.Leu205Val					CD2BP2_uc002dxs.2_Missense_Mutation_p.L205V	p.L205V	NM_006110	NP_006101	O95400	CD2B2_HUMAN			4	866	-			205					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.613T>G	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	a	17.61	3.431562	0.62844	.	.	ENSG00000169217	ENST00000305596	T	0.38077	1.16	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.69358	2.11	0.51767	D	0.999931	D	0.67145	0.996	P	0.60473	0.875	T	0.52139	-0.8615	10	0.07175	T	0.84	-0.8774	6.7604	0.23538	0.8305:0.0:0.1695:0.0	.	205	O95400	CD2B2_HUMAN	V	205	ENSP00000304903:L205V	ENSP00000304903:L205V	L	-	1	2	CD2BP2	30272385	0.171000	0.23029	0.999000	0.59377	0.931000	0.56810	0.667000	0.25112	2.012000	0.59069	0.533000	0.62120	TTG		0.657	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		10	22	0	0	0	0	10	22				
ITFG1	81533	broad.mit.edu	37	16	47196540	47196540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:47196540G>A	ENST00000320640.6	-	15	1717	c.1489C>T	c.(1489-1491)Caa>Taa	p.Q497*	ITFG1_ENST00000544001.2_Nonsense_Mutation_p.Q384*|ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	497						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TATGGTAGTTGGAGAGCTAAA	0.393																																						uc002eet.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1489-1491)CAA>TAA		integrin alpha FG-GAP repeat containing 1							96.0	97.0	96.0					16																	47196540		2202	4300	6502	SO:0001587	stop_gained	81533					extracellular region|integral to membrane		g.chr16:47196540G>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1489C>T	16.37:g.47196540G>A	ENSP00000319918:p.Gln497*					ITFG1_uc010vgg.1_Nonsense_Mutation_p.Q242*|ITFG1_uc010vgh.1_Nonsense_Mutation_p.Q384*	p.Q497*	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			15	1551	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	497					Q96SR4|Q9BRE2|Q9H2V9	Nonsense_Mutation	SNP	ENST00000320640.6	37	c.1489C>T	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	G	38	7.074952	0.98044	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-30.1655	19.4863	0.95030	0.0:0.0:1.0:0.0	.	.	.	.	X	497;157;242;384	.	ENSP00000319918:Q497X	Q	-	1	0	ITFG1	45754041	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	8.645000	0.91049	2.618000	0.88619	0.591000	0.81541	CAA		0.393	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		19	77	0	0	0	0	19	77				
CPNE2	221184	broad.mit.edu	37	16	57147238	57147238	+	Silent	SNP	C	C	T	rs138897886		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:57147238C>T	ENST00000535318.2	+	4	580	c.219C>T	c.(217-219)ccC>ccT	p.P73P	CPNE2_ENST00000565874.1_Silent_p.P73P|CPNE2_ENST00000290776.8_Silent_p.P73P|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	73	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.P73P(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ACCTCAACCCCGCCTTCTCCA	0.552																																						uc002eks.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(217-219)CCC>CCT		copine II		C		0,4396		0,0,2198	147.0	119.0	128.0		219	-10.2	0.0	16	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CPNE2	NM_152727.5		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		73/549	57147238	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57147238C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.219C>T	16.37:g.57147238C>T						CPNE2_uc010cct.1_Silent_p.P99P|CPNE2_uc010ccu.1_Silent_p.P73P	p.P73P	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			3	448	+		all_neural(199;0.224)	73			C2 1.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.219C>T	CCDS10774.1																																																																																				0.552	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		9	66	0	0	0	0	9	66				
FOXC2	2303	broad.mit.edu	37	16	86600960	86600960	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:86600960G>A	ENST00000320354.4	+	1	104	c.19G>A	c.(19-21)Gtg>Atg	p.V7M	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	7					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCGCTACTCCGTGTCCGACCC	0.721									Late-onset Hereditary Lymphedema																													uc002fjq.2		NA																	0					0						c.(19-21)GTG>ATG		forkhead box C2							31.0	35.0	34.0					16																	86600960		2196	4293	6489	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86600960G>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.19G>A	16.37:g.86600960G>A	ENSP00000326371:p.Val7Met						p.V7M	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	104	+			7					C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.19G>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087106	0.94100	.	.	ENSG00000176692	ENST00000320354	D	0.96774	-4.12	3.49	3.49	0.39957	.	1.567630	0.04809	U	0.434899	D	0.97651	0.9230	L	0.59436	1.845	0.47659	D	0.999489	D	0.76494	0.999	D	0.70935	0.971	D	0.93137	0.6538	10	0.45353	T	0.12	.	13.7902	0.63135	0.0:0.0:1.0:0.0	.	7	Q99958	FOXC2_HUMAN	M	7	ENSP00000326371:V7M	ENSP00000326371:V7M	V	+	1	0	FOXC2	85158461	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	8.815000	0.91973	1.800000	0.52685	0.556000	0.70494	GTG		0.721	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		15	55	0	0	0	0	15	55				
ANKRD11	29123	broad.mit.edu	37	16	89348862	89348862	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:89348862C>T	ENST00000301030.4	-	9	4548	c.4088G>A	c.(4087-4089)cGa>cAa	p.R1363Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1363Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1363	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCTCGCTCTCGGTCGTGGCT	0.562																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4087-4089)CGA>CAA		ankyrin repeat domain 11							94.0	83.0	87.0					16																	89348862		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348862C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4088G>A	16.37:g.89348862C>T	ENSP00000301030:p.Arg1363Gln					ANKRD11_uc002fmy.1_Missense_Mutation_p.R1363Q|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1363Q|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1320Q	p.R1363Q	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4549	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1363			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4088G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798371	0.50208	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.38560	1.13;1.13	5.21	5.21	0.72293	.	0.073990	0.53938	D	0.000052	T	0.33702	0.0872	L	0.57536	1.79	0.80722	D	1	D	0.52996	0.957	B	0.39068	0.289	T	0.10177	-1.0641	10	0.26408	T	0.33	.	8.3826	0.32481	0.0:0.8306:0.0:0.1694	.	1363	Q6UB99	ANR11_HUMAN	Q	1363	ENSP00000301030:R1363Q;ENSP00000367581:R1363Q	ENSP00000301030:R1363Q	R	-	2	0	ANKRD11	87876363	1.000000	0.71417	0.632000	0.29296	0.037000	0.13140	4.238000	0.58688	2.577000	0.86979	0.563000	0.77884	CGA		0.562	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		20	106	0	0	0	0	20	106				
ANKRD11	29123	broad.mit.edu	37	16	89351117	89351117	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr16:89351117G>A	ENST00000301030.4	-	9	2293	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	ANKRD11_ENST00000378330.2_Silent_p.F611F	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	611					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGCTGGACAGGAAGGGGCTCT	0.537																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1831-1833)TTC>TTT		ankyrin repeat domain 11							33.0	36.0	35.0					16																	89351117		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89351117G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1833C>T	16.37:g.89351117G>A						ANKRD11_uc002fmy.1_Silent_p.F611F|ANKRD11_uc002fnc.1_Silent_p.F611F|ANKRD11_uc002fnb.1_Silent_p.F568F	p.F611F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2294	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	611					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.1833C>T	CCDS32513.1																																																																																				0.537	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		12	65	0	0	0	0	12	65				
TP53	7157	broad.mit.edu	37	17	7579369	7579369	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:7579369G>C	ENST00000269305.4	-	4	507	c.318C>G	c.(316-318)agC>agG	p.S106R	TP53_ENST00000420246.2_Missense_Mutation_p.S106R|TP53_ENST00000445888.2_Missense_Mutation_p.S106R|TP53_ENST00000455263.2_Missense_Mutation_p.S106R|TP53_ENST00000359597.4_Missense_Mutation_p.S106R|TP53_ENST00000413465.2_Missense_Mutation_p.S106R|TP53_ENST00000574684.1_5'Flank	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	106	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		S -> G (in a sporadic cancer; somatic mutation).|S -> R (in a familial cancer not matching LFS; germline mutation and 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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	GGAAACCGTAGCTGCCCTGGT	0.617		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		27	Deletion - Frameshift(12)|Whole gene deletion(8)|Substitution - Missense(3)|Complex - deletion inframe(2)|Deletion - In frame(2)	p.0?(7)|p.G59fs*23(3)|p.S106R(3)|p.V73fs*9(1)|p.S106fs*17(1)|p.S106_Y107delSY(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)	upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|ovary(3)|breast(3)|central_nervous_system(2)|lung(2)|liver(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(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	GRCh37	CM013441	TP53	M		c.(316-318)AGC>AGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	57.0	57.0					17																	7579369		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579369G>C	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.318C>G	17.37:g.7579369G>C	ENSP00000269305:p.Ser106Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.S106R|TP53_uc002gih.2_Missense_Mutation_p.S106R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.S106R|TP53_uc010cni.1_Missense_Mutation_p.S106R|TP53_uc002gij.2_Missense_Mutation_p.S106R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.S67R|TP53_uc010cnk.1_Missense_Mutation_p.S121R	p.S106R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	512	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	106		S -> R (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.318C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.949	1.219579	0.22373	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	4.75	2.77	0.32553	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	1.175280	0.05775	N	0.607434	D	0.99133	0.9701	L	0.38175	1.15	0.28839	N	0.896688	B;P;B;B;B;B;B	0.34615	0.305;0.459;0.042;0.005;0.086;0.029;0.313	B;B;B;B;B;B;B	0.43103	0.107;0.408;0.117;0.007;0.186;0.186;0.061	D	0.99992	1.4503	10	0.40728	T	0.16	-0.4975	9.0942	0.36629	0.1857:0.0:0.8143:0.0	.	67;106;106;106;106;106;106	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	106	ENSP00000410739:S106R;ENSP00000352610:S106R;ENSP00000269305:S106R;ENSP00000398846:S106R;ENSP00000391127:S106R;ENSP00000391478:S106R;ENSP00000424104:S106R;ENSP00000426252:S106R	ENSP00000269305:S106R	S	-	3	2	TP53	7520094	0.247000	0.23920	0.636000	0.29352	0.532000	0.34746	0.437000	0.21543	1.364000	0.46038	0.655000	0.94253	AGC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	29	0	0	0	0	42	29				
MYH4	4622	broad.mit.edu	37	17	10352202	10352202	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:10352202C>T	ENST00000255381.2	-	31	4454	c.4344G>A	c.(4342-4344)aaG>aaA	p.K1448K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1448					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTTTGCTTCTTATCGAGAG	0.433																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4342-4344)AAG>AAA		myosin, heavy polypeptide 4, skeletal muscle							95.0	94.0	94.0					17																	10352202		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352202C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4344G>A	17.37:g.10352202C>T						uc002gml.1_Intron	p.K1448K	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			31	4455	-			1448			Potential.			Silent	SNP	ENST00000255381.2	37	c.4344G>A	CCDS11154.1																																																																																				0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		4	52	0	0	0	0	4	52				
TMEM132E	124842	broad.mit.edu	37	17	32964569	32964569	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:32964569C>T	ENST00000321639.5	+	10	2601	c.2273C>T	c.(2272-2274)gCg>gTg	p.A758V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	758						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCGGGCTCTGCGCTACCCGCA	0.746																																						uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(2272-2274)GCG>GTG		transmembrane protein 132E precursor							8.0	10.0	9.0					17																	32964569		2109	4136	6245	SO:0001583	missense	124842					integral to membrane		g.chr17:32964569C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2273C>T	17.37:g.32964569C>T	ENSP00000316532:p.Ala758Val						p.A758V	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2601	+			758			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2273C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	3.766	-0.048686	0.07407	.	.	ENSG00000181291	ENST00000321639	T	0.16073	2.37	4.53	-1.65	0.08291	.	1.230740	0.05687	N	0.591539	T	0.19046	0.0457	L	0.53249	1.67	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.39542	-0.9609	10	0.29301	T	0.29	-14.0073	13.5449	0.61697	0.1208:0.2932:0.586:0.0	.	758	Q6IEE7	T132E_HUMAN	V	758	ENSP00000316532:A758V	ENSP00000316532:A758V	A	+	2	0	TMEM132E	29988682	0.004000	0.15560	0.000000	0.03702	0.007000	0.05969	0.012000	0.13287	-0.416000	0.07473	-0.476000	0.04901	GCG		0.746	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		5	17	0	0	0	0	5	17				
KRT37	8688	broad.mit.edu	37	17	39580043	39580043	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:39580043C>T	ENST00000225550.3	-	2	545	c.546G>A	c.(544-546)gcG>gcA	p.A182A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	182	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A182A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGCCAGCTTCGCGTTGTCAA	0.493																																						uc002hwp.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(1)	1						c.(544-546)GCG>GCA		keratin 37							125.0	104.0	111.0					17																	39580043		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39580043C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.546G>A	17.37:g.39580043C>T						uc002hwo.1_RNA	p.A182A	NM_003770	NP_003761	O76014	KRT37_HUMAN			2	593	-		Breast(137;0.000496)	182			Rod.|Coil 1B.			Silent	SNP	ENST00000225550.3	37	c.546G>A	CCDS32653.1																																																																																				0.493	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		12	63	0	0	0	0	12	63				
NKIRAS2	28511	broad.mit.edu	37	17	40175777	40175777	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:40175777G>T	ENST00000307641.5	+	4	1063	c.442G>T	c.(442-444)Gag>Tag	p.E148*	NKIRAS2_ENST00000449471.4_Nonsense_Mutation_p.E92*|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000316082.4_Nonsense_Mutation_p.E186*|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000393884.2_Nonsense_Mutation_p.E146*|NKIRAS2_ENST00000393881.3_Nonsense_Mutation_p.E148*|NKIRAS2_ENST00000393885.4_Nonsense_Mutation_p.E148*|NKIRAS2_ENST00000393880.1_Nonsense_Mutation_p.E148*|ZNF385C_ENST00000461831.1_5'Flank	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	148	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GAAGCTGTGGGAGGTGTCAGT	0.607																																						uc002hyq.2		NA																	0				ovary(1)	1						c.(442-444)GAG>TAG		NFKB inhibitor interacting Ras-like 2 isoform a							117.0	107.0	110.0					17																	40175777		2203	4300	6503	SO:0001587	stop_gained	28511				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr17:40175777G>T	AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.442G>T	17.37:g.40175777G>T	ENSP00000303580:p.Glu148*					NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Nonsense_Mutation_p.E148*|NKIRAS2_uc002hys.2_Nonsense_Mutation_p.E148*|NKIRAS2_uc010wge.1_Nonsense_Mutation_p.E92*|NKIRAS2_uc002hyt.2_Nonsense_Mutation_p.E148*	p.E148*	NM_001001349	NP_001001349	Q9NYR9	KBRS2_HUMAN			4	507	+		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)	148			Small GTPase-like.		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Nonsense_Mutation	SNP	ENST00000307641.5	37	c.442G>T	CCDS11415.1	.	.	.	.	.	.	.	.	.	.	G	37	6.146277	0.97324	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.1022	19.7343	0.96195	0.0:0.0:1.0:0.0	.	.	.	.	X	148;146;148;148;148;92;186	.	ENSP00000303580:E148X	E	+	1	0	NKIRAS2	37429303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.660000	0.90430	0.467000	0.42956	GAG		0.607	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257457.1	NM_017595		12	64	1	0	2.62e-11	8.16e-11	12	64				
KPNB1	3837	broad.mit.edu	37	17	45745744	45745744	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:45745744G>C	ENST00000290158.4	+	10	1599	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	KPNB1_ENST00000535458.2_Missense_Mutation_p.E253Q|KPNB1_ENST00000537679.1_Missense_Mutation_p.E182Q|KPNB1_ENST00000540627.1_Missense_Mutation_p.E253Q	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	398	Ran-GTP binding.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GGAAGGACCAGAGCCCAGTCA	0.423																																						uc002ilt.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1192-1194)GAG>CAG		karyopherin beta 1							83.0	81.0	82.0					17																	45745744		2203	4300	6503	SO:0001583	missense	3837				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding	g.chr17:45745744G>C	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1192G>C	17.37:g.45745744G>C	ENSP00000290158:p.Glu398Gln					KPNB1_uc010wkw.1_Missense_Mutation_p.E253Q|KPNB1_uc010wkx.1_Missense_Mutation_p.E182Q	p.E398Q	NM_002265	NP_002256	Q14974	IMB1_HUMAN			10	1528	+			398			Ran-GTP binding.|HEAT 5.		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	ENST00000290158.4	37	c.1192G>C	CCDS11513.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139954	0.56936	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.055176	0.64402	D	0.000001	T	0.34629	0.0904	M	0.69823	2.125	0.33512	D	0.591266	P;B	0.40619	0.724;0.347	B;B	0.33799	0.17;0.082	T	0.42032	-0.9475	9	0.33940	T	0.23	-21.4849	19.4882	0.95039	0.0:0.0:1.0:0.0	.	182;398	F5H4R7;Q14974	.;IMB1_HUMAN	Q	253;398;253;182	ENSP00000438253:E253Q;ENSP00000290158:E398Q;ENSP00000438964:E253Q;ENSP00000445006:E182Q	ENSP00000290158:E398Q	E	+	1	0	KPNB1	43100743	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.620000	0.88729	0.557000	0.71058	GAG		0.423	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089755.2	NM_002265		9	65	0	0	0	0	9	65				
MPO	4353	broad.mit.edu	37	17	56355308	56355308	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:56355308G>A	ENST00000225275.3	-	7	1260	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	MPO_ENST00000340482.3_Silent_p.L394L|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	362					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	ACGGCCAGCAGCCCCAGCTGG	0.647																																						uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1084-1086)CTG>TTG		myeloperoxidase	Cefdinir(DB00535)						66.0	61.0	63.0					17																	56355308		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355308G>A		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1084C>T	17.37:g.56355308G>A							p.L362L	NM_000250	NP_000241	P05164	PERM_HUMAN			7	1261	-			362					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1084C>T	CCDS11604.1																																																																																				0.647	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			12	63	0	0	0	0	12	63				
C17orf77	146723	broad.mit.edu	37	17	72588200	72588200	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:72588200G>A	ENST00000392620.1	+	3	377	c.15G>A	c.(13-15)gcG>gcA	p.A5A	C17orf77_ENST00000328023.2_Silent_p.A5A|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	5						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATGAATTGGCGCTGTCATTTT	0.453																																						uc002jla.1		NA																	0					0						c.(13-15)GCG>GCA		hypothetical protein LOC146723							108.0	110.0	109.0					17																	72588200		2203	4300	6503	SO:0001819	synonymous_variant	146723					extracellular region		g.chr17:72588200G>A		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.15G>A	17.37:g.72588200G>A						CD300LD_uc002jkz.2_Intron	p.A5A	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	377	+			5						Silent	SNP	ENST00000392620.1	37	c.15G>A	CCDS32721.1																																																																																				0.453	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460		21	159	0	0	0	0	21	159				
GGA3	23163	broad.mit.edu	37	17	73235980	73235980	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:73235980G>A	ENST00000245541.6	-	13	1689	c.1473C>T	c.(1471-1473)gcC>gcT	p.A491A	GGA3_ENST00000538886.1_Silent_p.A369A|GGA3_ENST00000582717.1_Silent_p.A419A|GGA3_ENST00000578348.1_Silent_p.A369A|GGA3_ENST00000582486.1_Silent_p.A419A|GGA3_ENST00000351904.7_Silent_p.A458A	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	491	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TTGGGGCCAAGGCTGGGGCCA	0.637																																						uc002jni.1		NA																	0				ovary(1)|breast(1)	2						c.(1471-1473)GCC>GCT		ADP-ribosylation factor binding protein 3							25.0	24.0	24.0					17																	73235980		2203	4300	6503	SO:0001819	synonymous_variant	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73235980G>A	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1473C>T	17.37:g.73235980G>A						GGA3_uc002jnj.1_Silent_p.A458A|GGA3_uc010wrw.1_Silent_p.A369A|GGA3_uc002jnk.1_Silent_p.A419A|GGA3_uc010wrx.1_Silent_p.A369A|GGA3_uc010wry.1_Silent_p.A419A	p.A491A	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		13	1482	-			491			Unstructured hinge.		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	c.1473C>T	CCDS11717.1																																																																																				0.637	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		5	33	0	0	0	0	5	33				
TNRC6C	57690	broad.mit.edu	37	17	76045219	76045219	+	Missense_Mutation	SNP	G	G	A	rs375547025		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:76045219G>A	ENST00000588061.1	+	5	803	c.76G>A	c.(76-78)Gca>Aca	p.A26T	TNRC6C_ENST00000544502.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A26T|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A26T|TNRC6C_ENST00000335749.4_Missense_Mutation_p.A26T			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	26	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CACCAATGGCGCACTCGTCCA	0.552																																						uc002jud.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(76-78)GCA>ACA		trinucleotide repeat containing 6C isoform 2		G	THR/ALA,THR/ALA	0,4128		0,0,2064	51.0	52.0	52.0		76,76	1.0	0.4	17		52	1,8403		0,1,4201	no	missense,missense	TNRC6C	NM_001142640.1,NM_018996.3	58,58	0,1,6265	AA,AG,GG		0.0119,0.0,0.0080	benign,benign	26/1727,26/1691	76045219	1,12531	2064	4202	6266	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76045219G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.76G>A	17.37:g.76045219G>A	ENSP00000468647:p.Ala26Thr					TNRC6C_uc002juf.2_Missense_Mutation_p.A26T|TNRC6C_uc002jue.2_Missense_Mutation_p.A26T	p.A26T	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	676	+			26			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.76G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156325	0.38021	0.0	1.19E-4	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.48	1.03	0.20045	.	0.416130	0.29034	N	0.013358	T	0.07818	0.0196	N	0.08118	0	0.37988	D	0.93381	B;B;B	0.12630	0.006;0.006;0.003	B;B;B	0.08055	0.003;0.003;0.001	T	0.29579	-1.0007	10	0.28530	T	0.3	-0.0177	9.9831	0.41826	0.2914:0.0:0.7086:0.0	.	26;26;26	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	T	26	ENSP00000336783:A26T;ENSP00000301624:A26T;ENSP00000440310:A26T;ENSP00000442421:A26T	ENSP00000301624:A26T	A	+	1	0	TNRC6C	73556814	1.000000	0.71417	0.446000	0.26920	0.998000	0.95712	2.291000	0.43540	-0.015000	0.14150	0.585000	0.79938	GCA		0.552	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		13	74	0	0	0	0	13	74				
LAMA3	3909	broad.mit.edu	37	18	21330996	21330996	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr18:21330996A>C	ENST00000313654.9	+	5	1040	c.799A>C	c.(799-801)Acg>Ccg	p.T267P	LAMA3_ENST00000399516.3_Missense_Mutation_p.T267P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	267	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TAGAACCAATACGCTTCTTGG	0.438																																						uc002kuq.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(799-801)ACG>CCG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						111.0	110.0	110.0					18																	21330996		1886	4117	6003	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330996A>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.799A>C	18.37:g.21330996A>C	ENSP00000324532:p.Thr267Pro					LAMA3_uc010dlv.1_Missense_Mutation_p.T267P|LAMA3_uc002kur.2_Missense_Mutation_p.T267P	p.T267P	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			5	885	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		267			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.799A>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.644873	0.87859	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.79749	-1.3;-1.3	5.64	5.64	0.86602	Laminin, N-terminal (3);	.	.	.	.	D	0.91102	0.7199	M	0.88181	2.935	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.75484	0.976;0.986;0.967	D	0.92770	0.6231	9	0.87932	D	0	.	15.8637	0.79047	1.0:0.0:0.0:0.0	.	267;267;267	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	P	267;267;265;267	ENSP00000324532:T267P;ENSP00000382432:T267P	ENSP00000324532:T267P	T	+	1	0	LAMA3	19584994	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	8.906000	0.92626	2.136000	0.66102	0.533000	0.62120	ACG		0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		12	83	0	0	0	0	12	83				
DOCK6	57572	broad.mit.edu	37	19	11348922	11348922	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:11348922G>C	ENST00000294618.7	-	15	1713	c.1702C>G	c.(1702-1704)Cgc>Ggc	p.R568G	DOCK6_ENST00000319867.7_5'Flank|C19orf80_ENST00000591200.1_Intron|C19orf80_ENST00000252453.8_5'Flank	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	568	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCAAGGTTGCGCACGGAGCCC	0.672																																						uc002mqs.3		NA																	0				ovary(2)|skin(1)	3						c.(1702-1704)CGC>GGC		dedicator of cytokinesis 6							32.0	37.0	35.0					19																	11348922		2063	4197	6260	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11348922G>C		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1702C>G	19.37:g.11348922G>C	ENSP00000294618:p.Arg568Gly					DOCK6_uc010xlq.1_5'Flank|LOC55908_uc010dxw.2_Intron|LOC55908_uc010dxx.2_Missense_Mutation_p.R35P	p.R568G	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			15	1743	-			568			DHR-1.		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.1702C>G	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684133	0.68157	.	.	ENSG00000130158	ENST00000294618	T	0.18502	2.21	4.8	2.41	0.29592	.	0.000000	0.35466	U	0.003192	T	0.50718	0.1632	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65796	-0.6081	10	0.87932	D	0	.	11.9407	0.52899	0.0:0.0:0.6666:0.3334	.	568	Q96HP0	DOCK6_HUMAN	G	568	ENSP00000294618:R568G	ENSP00000294618:R568G	R	-	1	0	DOCK6	11209922	0.986000	0.35501	1.000000	0.80357	0.961000	0.63080	0.725000	0.25970	2.211000	0.71520	0.591000	0.81541	CGC		0.672	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		9	38	0	0	0	0	9	38				
ZNF43	7594	broad.mit.edu	37	19	21992242	21992242	+	Silent	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:21992242C>A	ENST00000354959.4	-	4	766	c.597G>T	c.(595-597)gtG>gtT	p.V199V	ZNF43_ENST00000595461.1_Silent_p.V193V|ZNF43_ENST00000598381.1_Silent_p.V193V|ZNF43_ENST00000594012.1_Silent_p.V193V	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	199					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGCAGAAATTCACTCTGGTAT	0.333																																						uc002nqj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(595-597)GTG>GTT		zinc finger protein 43							47.0	48.0	48.0					19																	21992242		2202	4299	6501	SO:0001819	synonymous_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992242C>A	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.597G>T	19.37:g.21992242C>A						ZNF43_uc010ecv.2_Silent_p.V193V|ZNF43_uc002nql.2_Silent_p.V193V|ZNF43_uc002nqm.2_Silent_p.V193V|ZNF43_uc002nqk.2_Silent_p.V129V	p.V199V	NM_003423	NP_003414	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	4	727	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	199					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	c.597G>T	CCDS12413.2																																																																																				0.333	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		9	40	1	0	0.000442599	0.00126811	9	40				
ZNF536	9745	broad.mit.edu	37	19	30936342	30936342	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:30936342A>G	ENST00000355537.3	+	2	2020	c.1873A>G	c.(1873-1875)Aac>Gac	p.N625D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	625					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)					GGGTCCTGGGAACATGAAGGA	0.587																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(1873-1875)AAC>GAC		zinc finger protein 536							94.0	106.0	102.0					19																	30936342		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936342A>G		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.1873A>G	19.37:g.30936342A>G	ENSP00000347730:p.Asn625Asp					ZNF536_uc010edd.1_Missense_Mutation_p.N625D	p.N625D	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2011	+	Esophageal squamous(110;0.0834)		625					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1873A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484987	0.26598	.	.	ENSG00000198597	ENST00000355537	T	0.42900	0.96	5.68	5.68	0.88126	.	0.361327	0.33875	N	0.004463	T	0.32882	0.0844	N	0.22421	0.69	0.28840	N	0.896637	B;B	0.21821	0.061;0.006	B;B	0.20577	0.03;0.01	T	0.27400	-1.0075	10	0.51188	T	0.08	-22.3375	15.9325	0.79675	1.0:0.0:0.0:0.0	.	625;625	A7E228;O15090	.;ZN536_HUMAN	D	625	ENSP00000347730:N625D	ENSP00000347730:N625D	N	+	1	0	ZNF536	35628182	0.955000	0.32602	0.945000	0.38365	0.705000	0.40729	4.580000	0.60942	2.148000	0.66965	0.533000	0.62120	AAC		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		22	108	0	0	0	0	22	108				
SIPA1L3	23094	broad.mit.edu	37	19	38600875	38600875	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:38600875G>A	ENST00000222345.6	+	8	2651	c.2142G>A	c.(2140-2142)cgG>cgA	p.R714R	CTC-450M9.1_ENST00000599092.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	714	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCTGCTACGGAAGAGGCACA	0.617																																						uc002ohk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2140-2142)CGG>CGA		signal-induced proliferation-associated 1 like							167.0	135.0	146.0					19																	38600875		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38600875G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2142G>A	19.37:g.38600875G>A							p.R714R	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		8	2651	+			714			Rap-GAP.		Q2TV87	Silent	SNP	ENST00000222345.6	37	c.2142G>A	CCDS33007.1																																																																																				0.617	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		12	84	0	0	0	0	12	84				
PRR12	57479	broad.mit.edu	37	19	50098071	50098071	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:50098071G>A	ENST00000418929.2	+	4	491	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCGGCAGCCGCCCCTTCCCA	0.662																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(478-480)CGC>CAC		proline rich 12							20.0	25.0	24.0					19																	50098071		1987	4141	6128	SO:0001583	missense	57479						DNA binding	g.chr19:50098071G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.479G>A	19.37:g.50098071G>A	ENSP00000394510:p.Arg160His						p.R160H	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	479	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.479G>A	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694825	0.48202	.	.	ENSG00000126464	ENST00000418929	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	T	0.78407	0.4278	.	.	.	0.36209	D	0.851264	D	0.89917	1.0	D	0.71414	0.973	D	0.85382	0.1120	7	0.87932	D	0	.	15.4155	0.74962	0.0:0.0:1.0:0.0	.	160	Q9ULL5-3	.	H	160	.	ENSP00000394510:R160H	R	+	2	0	PRR12	54789883	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	7.117000	0.77129	2.252000	0.74401	0.563000	0.77884	CGC		0.662	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		6	13	0	0	0	0	6	13				
NLRP8	126205	broad.mit.edu	37	19	56490773	56490773	+	Silent	SNP	C	C	T	rs535321291		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56490773C>T	ENST00000291971.3	+	9	2961	c.2890C>T	c.(2890-2892)Ctg>Ttg	p.L964L	NLRP8_ENST00000590542.1_Silent_p.L945L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	964					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGAAAACTGCCTGTTCACCTC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20630	0.001		0.0	False		,,,				2504	0.0					uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(2890-2892)CTG>TTG		NLR family, pyrin domain containing 8							107.0	101.0	103.0					19																	56490773		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56490773C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2890C>T	19.37:g.56490773C>T						NLRP8_uc010etg.2_Silent_p.L945L	p.L964L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	9	2961	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	964					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.2890C>T	CCDS12937.1																																																																																				0.517	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		29	48	0	0	0	0	29	48				
ZNF667	63934	broad.mit.edu	37	19	56953462	56953462	+	Missense_Mutation	SNP	C	C	A	rs199981689		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56953462C>A	ENST00000504904.3	-	7	1621	c.902G>T	c.(901-903)aGa>aTa	p.R301I	ZNF667_ENST00000342634.3_Missense_Mutation_p.R429I|ZNF667_ENST00000292069.6_Missense_Mutation_p.R301I|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGCATGAATTCTTTTATGTAC	0.328																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(901-903)AGA>ATA		zinc finger protein 667		C	ILE/ARG	0,4404		0,0,2202	86.0	89.0	88.0		902	1.6	0.0	19		88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF667	NM_022103.3	97	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	possibly-damaging	301/611	56953462	1,13003	2202	4300	6502	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953462C>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.902G>T	19.37:g.56953462C>A	ENSP00000439402:p.Arg301Ile					ZNF667_uc010etl.2_Missense_Mutation_p.R83I|ZNF667_uc002qne.2_Missense_Mutation_p.R301I|ZNF667_uc010etm.2_Missense_Mutation_p.R244I	p.R301I	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1064	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	301			C2H2-type 5; degenerate.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.902G>T	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	5.456	0.269145	0.10349	0.0	1.16E-4	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.32753	1.44;1.44;1.44	4.96	1.64	0.23874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.282130	0.25636	N	0.029310	T	0.25269	0.0614	L	0.52573	1.65	0.09310	N	0.999996	P;P	0.42785	0.79;0.597	B;B	0.40602	0.334;0.233	T	0.12167	-1.0558	10	0.66056	D	0.02	-6.3917	6.4282	0.21782	0.1563:0.7095:0.0:0.1342	.	429;301	E7EPS0;Q5HYK9	.;ZN667_HUMAN	I	429;301;301;83	ENSP00000344699:R429I;ENSP00000439402:R301I;ENSP00000292069:R301I	ENSP00000292069:R301I	R	-	2	0	ZNF667	61645274	0.000000	0.05858	0.004000	0.12327	0.043000	0.13939	0.142000	0.16096	0.270000	0.21984	0.591000	0.81541	AGA		0.328	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		14	54	1	0	0.000219431	0.000635167	14	54				
ZNF667	63934	broad.mit.edu	37	19	56953707	56953707	+	Missense_Mutation	SNP	C	C	G	rs140879761		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr19:56953707C>G	ENST00000504904.3	-	7	1376	c.657G>C	c.(655-657)atG>atC	p.M219I	ZNF667_ENST00000342634.3_Missense_Mutation_p.M347I|ZNF667_ENST00000292069.6_Missense_Mutation_p.M219I|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATGAATTCTCATATGTAGAA	0.373																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(655-657)ATG>ATC		zinc finger protein 667							155.0	162.0	160.0					19																	56953707		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953707C>G		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.657G>C	19.37:g.56953707C>G	ENSP00000439402:p.Met219Ile					ZNF667_uc010etl.2_Missense_Mutation_p.M1I|ZNF667_uc002qne.2_Missense_Mutation_p.M219I|ZNF667_uc010etm.2_Missense_Mutation_p.M162I	p.M219I	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	819	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	219			C2H2-type 3.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.657G>C	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	6.237	0.411912	0.11812	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.15017	2.46;2.46;2.46	4.98	0.394	0.16299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.792404	0.11000	N	0.610610	T	0.13670	0.0331	L	0.45137	1.4	0.20489	N	0.999895	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.28713	-1.0035	10	0.72032	D	0.01	0.0816	5.5631	0.17154	0.0:0.6077:0.148:0.2443	.	347;219	E7EPS0;Q5HYK9	.;ZN667_HUMAN	I	347;219;219;1;93	ENSP00000344699:M347I;ENSP00000439402:M219I;ENSP00000292069:M219I	ENSP00000292069:M219I	M	-	3	0	ZNF667	61645519	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.015000	0.12634	0.013000	0.14918	0.591000	0.81541	ATG		0.373	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		26	69	0	0	0	0	26	69				
ITSN2	50618	broad.mit.edu	37	2	24432884	24432884	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:24432884G>C	ENST00000355123.4	-	35	4719	c.4276C>G	c.(4276-4278)Ctc>Gtc	p.L1426V	ITSN2_ENST00000361999.3_Missense_Mutation_p.L1399V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1426					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTGGTGAGAGAGTTGAAA	0.478																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(4276-4278)CTC>GTC		intersectin 2 isoform 1							104.0	105.0	105.0					2																	24432884		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24432884G>C	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4276C>G	2.37:g.24432884G>C	ENSP00000347244:p.Leu1426Val					ITSN2_uc002rff.2_Missense_Mutation_p.L1399V	p.L1426V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			35	4534	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1426					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.4276C>G	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	G	6.969	0.548690	0.13312	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868	T;T;T	0.41400	1.0;1.0;1.0	4.26	4.26	0.50523	Pleckstrin homology-type (1);	0.000000	0.32055	U	0.006657	T	0.45115	0.1326	L	0.46885	1.475	0.43211	D	0.995072	P;P	0.50943	0.94;0.901	P;P	0.51135	0.66;0.458	T	0.28870	-1.0030	10	0.10377	T	0.69	.	17.0717	0.86576	0.0:0.0:1.0:0.0	.	1399;1426	Q9NZM3-2;Q9NZM3	.;ITSN2_HUMAN	V	1399;1426;1399	ENSP00000354561:L1399V;ENSP00000347244:L1426V;ENSP00000370250:L1399V	ENSP00000347244:L1426V	L	-	1	0	ITSN2	24286388	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.955000	0.49121	2.102000	0.63906	0.455000	0.32223	CTC		0.478	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		32	106	0	0	0	0	32	106				
NCOA1	8648	broad.mit.edu	37	2	24929454	24929454	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:24929454C>G	ENST00000406961.1	+	13	1767	c.1115C>G	c.(1114-1116)tCt>tGt	p.S372C	NCOA1_ENST00000405141.1_Missense_Mutation_p.S372C|NCOA1_ENST00000348332.3_Missense_Mutation_p.S372C|NCOA1_ENST00000407230.1_Missense_Mutation_p.S221C|NCOA1_ENST00000395856.3_Missense_Mutation_p.S372C|NCOA1_ENST00000538539.1_Missense_Mutation_p.S372C|NCOA1_ENST00000288599.5_Missense_Mutation_p.S372C			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	372	Interaction with STAT3.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGCTTTCTCCTCAAGAT	0.383			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1114-1116)TCT>TGT		nuclear receptor coactivator 1 isoform 1							66.0	67.0	66.0					2																	24929454		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24929454C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1115C>G	2.37:g.24929454C>G	ENSP00000385216:p.Ser372Cys					NCOA1_uc010eye.2_Missense_Mutation_p.S372C|NCOA1_uc002rfi.2_Missense_Mutation_p.S221C|NCOA1_uc002rfj.2_Missense_Mutation_p.S372C|NCOA1_uc002rfl.2_Missense_Mutation_p.S372C	p.S372C	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	1373	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		372			Interaction with STAT3.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.1115C>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	C	10.08	1.253462	0.22965	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02103	4.56;4.56;4.45;4.56;4.56;4.56;4.56	5.02	5.02	0.67125	.	0.153174	0.56097	D	0.000024	T	0.06325	0.0163	L	0.31294	0.92	0.51012	D	0.999908	B;B;B;D	0.61080	0.063;0.008;0.054;0.989	B;B;B;D	0.67231	0.027;0.014;0.106;0.95	T	0.46428	-0.9192	10	0.49607	T	0.09	.	14.0097	0.64488	0.0:0.8485:0.1515:0.0	.	372;372;372;221	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	C	372;372;221;372;372;372;372	ENSP00000385216:S372C;ENSP00000385097:S372C;ENSP00000385195:S221C;ENSP00000444039:S372C;ENSP00000320940:S372C;ENSP00000288599:S372C;ENSP00000379197:S372C	ENSP00000288599:S372C	S	+	2	0	NCOA1	24782958	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.088000	0.50175	2.485000	0.83878	0.655000	0.94253	TCT		0.383	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		23	36	0	0	0	0	23	36				
ALK	238	broad.mit.edu	37	2	29606696	29606696	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:29606696C>T	ENST00000389048.3	-	5	2090	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	395	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GTTGTCTGGACGCCCGATTCT	0.493			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1183-1185)CGT>CAT		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						117.0	111.0	113.0					2																	29606696		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29606696C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1184G>A	2.37:g.29606696C>T	ENSP00000373700:p.Arg395His						p.R395H	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			5	2091	-	Acute lymphoblastic leukemia(172;0.155)		395			MAM 1.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1184G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393692	0.25205	.	.	ENSG00000171094	ENST00000389048	T	0.02177	4.41	6.02	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.448474	0.16584	N	0.208052	T	0.01523	0.0049	N	0.14661	0.345	0.80722	D	1	B	0.23316	0.083	B	0.12156	0.007	T	0.57063	-0.7875	9	.	.	.	.	8.1968	0.31400	0.0:0.7656:0.0:0.2344	.	395	Q9UM73	ALK_HUMAN	H	395	ENSP00000373700:R395H	.	R	-	2	0	ALK	29460200	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	0.821000	0.27338	1.567000	0.49668	-0.133000	0.14855	CGT		0.493	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		10	103	0	0	0	0	10	103				
WBP1	23559	broad.mit.edu	37	2	74687380	74687380	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:74687380G>C	ENST00000233615.2	+	4	656	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Missense_Mutation_p.E162Q|MOGS_ENST00000462443.1_5'Flank|WBP1_ENST00000409737.1_Missense_Mutation_p.E125Q	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	128							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CCCAGCCTACGAGGATGTGGT	0.552																																						uc002slj.1		NA																	0					0						c.(382-384)GAG>CAG		WW domain binding protein 1							82.0	91.0	88.0					2																	74687380		2203	4300	6503	SO:0001583	missense	23559						WW domain binding	g.chr2:74687380G>C	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.382G>C	2.37:g.74687380G>C	ENSP00000233615:p.Glu128Gln					WBP1_uc002slh.1_RNA|INO80B_uc002sli.1_RNA|WBP1_uc002slk.1_Missense_Mutation_p.E125Q|WBP1_uc002sll.1_RNA	p.E128Q	NM_012477	NP_036609	Q96G27	WBP1_HUMAN			4	535	+			128					B2RE02|O95637	Missense_Mutation	SNP	ENST00000233615.2	37	c.382G>C	CCDS1943.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044431	0.75732	.	.	ENSG00000239779	ENST00000233615;ENST00000393972;ENST00000409737;ENST00000428943	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	T	0.77350	0.4117	M	0.68952	2.095	0.49389	D	0.999781	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79713	-0.1688	8	0.87932	D	0	-9.3834	15.6713	0.77279	0.0:0.0:1.0:0.0	.	125;128	B8ZZ95;Q96G27	.;WBP1_HUMAN	Q	128;162;125;187	.	ENSP00000233615:E128Q	E	+	1	0	WBP1	74540888	1.000000	0.71417	0.991000	0.47740	0.918000	0.54935	6.804000	0.75186	2.567000	0.86603	0.655000	0.94253	GAG		0.552	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		46	146	0	0	0	0	46	146				
LMAN2L	81562	broad.mit.edu	37	2	97377727	97377727	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:97377727G>A	ENST00000264963.4	-	5	565	c.543C>T	c.(541-543)aaC>aaT	p.N181N	LMAN2L_ENST00000537039.1_Silent_p.N43N|LMAN2L_ENST00000426463.2_Silent_p.N47N|LMAN2L_ENST00000377079.4_Silent_p.N192N|LMAN2L_ENST00000534882.1_Silent_p.N36N	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	181	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						TGAGGGAGCCGTTGTTCACCA	0.552																																						uc002swu.2		NA																	0					0						c.(541-543)AAC>AAT		lectin, mannose-binding 2-like isoform 2							64.0	61.0	62.0					2																	97377727		2203	4300	6503	SO:0001819	synonymous_variant	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97377727G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.543C>T	2.37:g.97377727G>A						LMAN2L_uc002swv.2_Silent_p.N192N|LMAN2L_uc010yut.1_Silent_p.N47N|LMAN2L_uc010yuu.1_Silent_p.N45N|LMAN2L_uc010yuv.1_Silent_p.N34N|LMAN2L_uc010yuw.1_Silent_p.N36N|LMAN2L_uc002sww.2_Silent_p.N34N|LMAN2L_uc010yux.1_Silent_p.N36N	p.N181N	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN			5	579	-			181			L-type lectin-like.|Lumenal (Potential).		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Silent	SNP	ENST00000264963.4	37	c.543C>T	CCDS2023.1																																																																																				0.552	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		16	121	0	0	0	0	16	121				
EN1	2019	broad.mit.edu	37	2	119600538	119600538	+	Silent	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:119600538G>T	ENST00000295206.6	-	2	1665	c.1155C>A	c.(1153-1155)gtC>gtA	p.V385V	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	385					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTTTGTCCTGGACCGTGGTGG	0.692																																						uc002tlm.2		NA																	0				large_intestine(1)|lung(1)	2						c.(1153-1155)GTC>GTA		engrailed homeobox 1							40.0	37.0	38.0					2																	119600538		2203	4300	6503	SO:0001819	synonymous_variant	2019				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:119600538G>T	L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"""Homeoboxes / ANTP class : NKL subclass"""	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1155C>A	2.37:g.119600538G>T							p.V385V	NM_001426	NP_001417	Q05925	HME1_HUMAN			2	2171	-			385					Q4ZG44	Silent	SNP	ENST00000295206.6	37	c.1155C>A	CCDS2123.1																																																																																				0.692	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254191.3			8	41	1	0	1.13e-05	3.3e-05	8	41				
LY75	4065	broad.mit.edu	37	2	160673380	160673380	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:160673380G>C	ENST00000263636.4	-	30	4344	c.4317C>G	c.(4315-4317)ctC>ctG	p.L1439L	LY75-CD302_ENST00000505052.1_Silent_p.L1439L|LY75-CD302_ENST00000504764.1_Silent_p.L1439L|LY75_ENST00000553424.1_Silent_p.L1439L|LY75_ENST00000554112.1_Silent_p.L1439L	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1439	C-type lectin 9. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTTCCAGAAAGAGCTGGCCAT	0.393																																						uc002ubc.3		NA																	0					0						c.(4315-4317)CTC>CTG		lymphocyte antigen 75 precursor							146.0	143.0	144.0					2																	160673380		2203	4300	6503	SO:0001819	synonymous_variant	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160673380G>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4317C>G	2.37:g.160673380G>C						LY75_uc002ubb.3_Silent_p.L1439L|LY75_uc010fos.2_Silent_p.L1439L	p.L1439L	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	30	4386	-			1439			Extracellular (Potential).|C-type lectin 9.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.4317C>G	CCDS2211.1																																																																																				0.393	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			15	84	0	0	0	0	15	84				
TTN	7273	broad.mit.edu	37	2	179539081	179539081	+	Silent	SNP	T	T	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:179539081T>G	ENST00000591111.1	-	147	33770	c.33546A>C	c.(33544-33546)ccA>ccC	p.P11182P	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Silent_p.P11556P|TTN_ENST00000342992.6_Silent_p.P10255P|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11182	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATGCTAGGTGGTTCTTCTG	0.343																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(30763-30765)CCA>CCC		titin isoform N2-A							85.0	79.0	81.0					2																	179539081		1814	4082	5896	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179539081T>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.33546A>C	2.37:g.179539081T>G						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6916P|TTN_uc010fre.1_Silent_p.P763P|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron	p.P10255P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		146	30989	-			11182					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	Silent	SNP	ENST00000591111.1	37	c.30765A>C																																																																																					0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	6	0	0	0	0	4	6				
EPHA4	2043	broad.mit.edu	37	2	222298932	222298932	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr2:222298932C>T	ENST00000281821.2	-	14	2467	c.2426G>A	c.(2425-2427)aGc>aAc	p.S809N	EPHA4_ENST00000409938.1_Missense_Mutation_p.S809N|EPHA4_ENST00000409854.1_Missense_Mutation_p.S809N|EPHA4_ENST00000392071.4_Missense_Mutation_p.S758N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	809	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GATTCCATAGCTCCATACATC	0.433																																						uc002vmq.2		NA																	0				lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12						c.(2425-2427)AGC>AAC		ephrin receptor EphA4 precursor							193.0	178.0	183.0					2																	222298932		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222298932C>T	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2426G>A	2.37:g.222298932C>T	ENSP00000281821:p.Ser809Asn					EPHA4_uc002vmr.2_Missense_Mutation_p.S809N|EPHA4_uc010zlm.1_Missense_Mutation_p.S750N|EPHA4_uc010zln.1_Missense_Mutation_p.S809N	p.S809N	NM_004438	NP_004429	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	14	2468	-		Renal(207;0.0183)	809			Protein kinase.|Cytoplasmic (Potential).		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2426G>A	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397515	0.96009	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94260	0.7501	10	0.87932	D	0	.	19.8381	0.96666	0.0:1.0:0.0:0.0	.	809	P54764	EPHA4_HUMAN	N	809;809;809;758	ENSP00000281821:S809N;ENSP00000386276:S809N;ENSP00000386829:S809N;ENSP00000375923:S758N	ENSP00000281821:S809N	S	-	2	0	EPHA4	222007176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.692000	0.91855	0.650000	0.86243	AGC		0.433	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			34	57	0	0	0	0	34	57				
IDH3B	3420	broad.mit.edu	37	20	2640753	2640753	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:2640753G>A	ENST00000380843.4	-	9	868	c.838C>T	c.(838-840)Ctg>Ttg	p.L280L	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Silent_p.L280L	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	280					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						CCAGCAGCCAGATTGTCAATA	0.517																																						uc002wgp.2		NA																	0					0						c.(838-840)CTG>TTG		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)						126.0	118.0	121.0					20																	2640753		2203	4300	6503	SO:0001819	synonymous_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2640753G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.838C>T	20.37:g.2640753G>A						IDH3B_uc002wgq.2_Silent_p.L280L|IDH3B_uc002wgr.2_Silent_p.L128L	p.L280L	NM_006899	NP_008830	O43837	IDH3B_HUMAN			9	847	-			280					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP	ENST00000380843.4	37	c.838C>T	CCDS13032.1																																																																																				0.517	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			18	89	0	0	0	0	18	89				
SLC4A11	83959	broad.mit.edu	37	20	3214600	3214600	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:3214600C>T	ENST00000380056.3	-	5	667	c.620G>A	c.(619-621)gGg>gAg	p.G207E	SLC4A11_ENST00000380059.3_Missense_Mutation_p.G234E|SLC4A11_ENST00000539553.2_Missense_Mutation_p.G191E	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	207					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GTACCGCACCCCTGTCACTGT	0.622																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NA																	0				ovary(1)	1						c.(619-621)GGG>GAG		solute carrier family 4 member 11							115.0	108.0	111.0					20																	3214600		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214600C>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.620G>A	20.37:g.3214600C>T	ENSP00000369396:p.Gly207Glu					SLC4A11_uc010zqe.1_Missense_Mutation_p.G234E|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.G191E	p.G207E	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			5	668	-			207			Cytoplasmic (Potential).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.620G>A	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136766	0.56936	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.22	5.22	0.72569	Phosphotransferase/anion transporter (1);	0.058085	0.64402	D	0.000002	D	0.87317	0.6147	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86713	0.1937	10	0.41790	T	0.15	.	17.7677	0.88483	0.0:1.0:0.0:0.0	.	191;234;207	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	E	234;207;191;191	ENSP00000369399:G234E;ENSP00000369396:G207E;ENSP00000441370:G191E;ENSP00000404271:G191E	ENSP00000369396:G207E	G	-	2	0	SLC4A11	3162600	1.000000	0.71417	0.989000	0.46669	0.086000	0.17979	7.762000	0.85270	2.428000	0.82296	0.563000	0.77884	GGG		0.622	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			18	81	0	0	0	0	18	81				
BPIFB2	80341	broad.mit.edu	37	20	31604856	31604856	+	Silent	SNP	G	G	C	rs142934424	byFrequency	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr20:31604856G>C	ENST00000170150.3	+	7	720	c.525G>C	c.(523-525)ctG>ctC	p.L175L		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	175						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										AGCTGTGCCTGAGCATCTCCA	0.617																																						uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(523-525)CTG>CTC		bactericidal/permeability-increasing							119.0	120.0	120.0					20																	31604856		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31604856G>C	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.525G>C	20.37:g.31604856G>C							p.L175L	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			7	719	+			175					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.525G>C	CCDS13210.1																																																																																				0.617	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		28	112	0	0	0	0	28	112				
SON	6651	broad.mit.edu	37	21	34923284	34923284	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr21:34923284G>C	ENST00000356577.4	+	3	2222	c.1747G>C	c.(1747-1749)Gag>Cag	p.E583Q	SON_ENST00000381679.4_Missense_Mutation_p.E583Q|SON_ENST00000300278.4_Missense_Mutation_p.E583Q|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.E583Q	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	583					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAGGGCACTGGAGTTGTCGGG	0.667																																						uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(1747-1749)GAG>CAG		SON DNA-binding protein isoform F							27.0	32.0	31.0					21																	34923284		2200	4294	6494	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923284G>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1747G>C	21.37:g.34923284G>C	ENSP00000348984:p.Glu583Gln					SON_uc002ysb.1_Missense_Mutation_p.E583Q|SON_uc002ysc.2_Missense_Mutation_p.E583Q|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.E583Q	NM_138927	NP_620305	P18583	SON_HUMAN			3	1796	+			583					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.1747G>C	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700683	0.48307	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.20200	2.25;2.22;2.22;2.09	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	T	0.37128	0.0992	L	0.32530	0.975	0.28106	N	0.931198	D;D;D	0.71674	0.997;0.998;0.994	D;D;D	0.79784	0.985;0.993;0.988	T	0.13818	-1.0495	10	0.72032	D	0.01	.	16.9945	0.86363	0.0:0.0:1.0:0.0	.	583;583;583	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	Q	583	ENSP00000348984:E583Q;ENSP00000290239:E583Q;ENSP00000300278:E583Q;ENSP00000371095:E583Q	ENSP00000290239:E583Q	E	+	1	0	SON	33845154	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.991000	0.49409	2.610000	0.88304	0.484000	0.47621	GAG		0.667	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		12	50	0	0	0	0	12	50				
TSPEAR	54084	broad.mit.edu	37	21	45919706	45919706	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr21:45919706T>A	ENST00000323084.4	-	12	2035	c.1970A>T	c.(1969-1971)aAg>aTg	p.K657M		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	657					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GAGGGGCTCCTTGGCGCTGGA	0.716																																						uc002zfe.1		NA																	0					0						c.(1969-1971)AAG>ATG		chromosome 21 open reading frame 29 precursor							19.0	19.0	19.0					21																	45919706		2188	4279	6467	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45919706T>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1970A>T	21.37:g.45919706T>A	ENSP00000321987:p.Lys657Met					C21orf29_uc010gpv.1_Missense_Mutation_p.K589M	p.K657M	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			12	2036	-			657			EAR 7.			Missense_Mutation	SNP	ENST00000323084.4	37	c.1970A>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662496	0.67700	.	.	ENSG00000175894	ENST00000323084;ENST00000397918	T	0.18810	2.19	4.33	4.33	0.51752	.	0.246207	0.39341	N	0.001389	T	0.40247	0.1109	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	T	0.25082	-1.0142	10	0.56958	D	0.05	-20.053	9.3435	0.38093	0.0:0.0866:0.0:0.9134	.	657	Q8WU66	TSEAR_HUMAN	M	657;510	ENSP00000321987:K657M	ENSP00000321987:K657M	K	-	2	0	TSPEAR	44744134	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	1.527000	0.35975	1.745000	0.51790	0.529000	0.55759	AAG		0.716	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		3	6	0	0	0	0	3	6				
CABIN1	23523	broad.mit.edu	37	22	24567922	24567922	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:24567922A>G	ENST00000398319.2	+	34	6384	c.5999A>G	c.(5998-6000)cAc>cGc	p.H2000R	CABIN1_ENST00000263119.5_Missense_Mutation_p.H2000R|CABIN1_ENST00000405822.2_Missense_Mutation_p.H1921R|CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.H425R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2000					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCGGCCACACAGGCCTGAA	0.657																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(5998-6000)CAC>CGC		calcineurin binding protein 1							58.0	53.0	55.0					22																	24567922		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24567922A>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5999A>G	22.37:g.24567922A>G	ENSP00000381364:p.His2000Arg					CABIN1_uc002zzj.1_Missense_Mutation_p.H1921R|CABIN1_uc002zzl.1_Missense_Mutation_p.H2000R|CABIN1_uc010gul.1_5'UTR	p.H2000R	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			34	6126	+			2000					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.5999A>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	A	8.105	0.777580	0.16120	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.20200	2.35;2.35;2.35;2.09	4.9	1.19	0.21007	.	0.695406	0.13983	N	0.349384	T	0.13243	0.0321	N	0.24115	0.695	0.09310	N	1	B;B	0.19200	0.034;0.012	B;B	0.18871	0.023;0.01	T	0.32955	-0.9887	10	0.16420	T	0.52	.	12.0137	0.53301	0.497:0.503:0.0:0.0	.	1921;2000	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	R	2000;1921;2000;425;424	ENSP00000263119:H2000R;ENSP00000384694:H1921R;ENSP00000381364:H2000R;ENSP00000336991:H425R	ENSP00000263119:H2000R	H	+	2	0	CABIN1	22897922	0.000000	0.05858	0.305000	0.25099	0.680000	0.39746	0.429000	0.21412	0.028000	0.15324	0.529000	0.55759	CAC		0.657	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		9	42	0	0	0	0	9	42				
PIWIL3	440822	broad.mit.edu	37	22	25120933	25120933	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:25120933C>G	ENST00000332271.5	-	18	2595	c.2179G>C	c.(2179-2181)Gga>Cga	p.G727R	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.G609R|PIWIL3_ENST00000527701.1_Missense_Mutation_p.G609R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	727	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGACCATCTCCCACTCCATCC	0.393																																						uc003abd.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2179-2181)GGA>CGA		piwi-like 3							150.0	124.0	133.0					22																	25120933		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25120933C>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2179G>C	22.37:g.25120933C>G	ENSP00000330031:p.Gly727Arg					PIWIL3_uc011ajx.1_Missense_Mutation_p.G609R|PIWIL3_uc011ajy.1_Missense_Mutation_p.G609R|PIWIL3_uc010gut.1_Missense_Mutation_p.G718R	p.G727R	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			18	2596	-			727			Piwi.			Missense_Mutation	SNP	ENST00000332271.5	37	c.2179G>C	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402126	0.42613	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.37752	1.18;1.18;1.18	3.35	3.35	0.38373	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.92923	3.36	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.75690	-0.3230	10	0.87932	D	0	-16.2705	12.5532	0.56238	0.0:1.0:0.0:0.0	.	609;718;727	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	R	727;609;609	ENSP00000330031:G727R;ENSP00000431843:G609R;ENSP00000435718:G609R	ENSP00000330031:G727R	G	-	1	0	PIWIL3	23450933	1.000000	0.71417	0.369000	0.25952	0.010000	0.07245	5.534000	0.67167	1.886000	0.54624	0.555000	0.69702	GGA		0.393	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		10	32	0	0	0	0	10	32				
YWHAH	7533	broad.mit.edu	37	22	32352249	32352249	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:32352249A>G	ENST00000248975.5	+	2	484	c.211A>G	c.(211-213)Atg>Gtg	p.M71V	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR|snoU13_ENST00000459049.1_RNA	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	71					apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GCAGAAAACCATGGCTGATGG	0.468																																					Ovarian(98;460 2060 9263 44007)	uc003alz.2		NA																	0				central_nervous_system(1)	1						c.(211-213)ATG>GTG		tyrosine 3-monooxygenase/tryptophan							92.0	84.0	86.0					22																	32352249		2203	4300	6503	SO:0001583	missense	7533				glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding	g.chr22:32352249A>G	X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.211A>G	22.37:g.32352249A>G	ENSP00000248975:p.Met71Val					YWHAH_uc010gwl.2_Missense_Mutation_p.M1V|YWHAH_uc003ama.2_Missense_Mutation_p.M1V|YWHAH_uc010gwm.2_Missense_Mutation_p.M58V	p.M71V	NM_003405	NP_003396	Q04917	1433F_HUMAN			2	452	+			71						Missense_Mutation	SNP	ENST00000248975.5	37	c.211A>G	CCDS13901.1	.	.	.	.	.	.	.	.	.	.	A	8.989	0.977187	0.18812	.	.	ENSG00000128245	ENST00000248975;ENST00000420430	T;T	0.40225	1.04;1.04	5.95	4.91	0.64330	14-3-3 domain (4);	0.164528	0.56097	D	0.000031	T	0.23133	0.0559	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.05068	-1.0908	10	0.87932	D	0	0.1783	7.9453	0.29982	0.7212:0.1427:0.0:0.1362	.	71;71	B2R6N6;Q04917	.;1433F_HUMAN	V	71;58	ENSP00000248975:M71V;ENSP00000406747:M58V	ENSP00000248975:M71V	M	+	1	0	YWHAH	30682249	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	3.043000	0.49823	1.054000	0.40438	0.533000	0.62120	ATG		0.468	YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405		12	70	0	0	0	0	12	70				
DENND6B	414918	broad.mit.edu	37	22	50752289	50752289	+	Missense_Mutation	SNP	G	G	A	rs374647332	byFrequency	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr22:50752289G>A	ENST00000413817.3	-	14	1228	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	386					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GAGGTGGGCCGTGTAAGCGGT	0.672													G|||	3	0.000599042	0.0	0.0	5008	,	,		10402	0.002		0.0	False		,,,				2504	0.001					uc011aru.1		NA																	0					0						c.(1156-1158)ACG>ATG		family with sequence similarity 116, member B							34.0	38.0	37.0					22																	50752289		2067	4199	6266	SO:0001583	missense	414918							g.chr22:50752289G>A	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1157C>T	22.37:g.50752289G>A	ENSP00000391524:p.Thr386Met					FAM116B_uc011arv.1_Missense_Mutation_p.T386M	p.T386M	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	15	1229	-		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	386					A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	c.1157C>T	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899635	0.33535	.	.	ENSG00000205593	ENST00000413817	.	.	.	4.85	1.3	0.21679	.	0.204155	0.49305	D	0.000155	T	0.15003	0.0362	N	0.19112	0.55	0.24783	N	0.9928	P;P	0.49358	0.923;0.923	B;B	0.38156	0.266;0.266	T	0.15292	-1.0442	9	0.56958	D	0.05	-7.6704	6.3391	0.21312	0.0:0.2985:0.3956:0.3059	.	386;386	Q8NEG7;C9JIV6	F116B_HUMAN;.	M	386	.	ENSP00000391524:T386M	T	-	2	0	FAM116B	49094861	0.967000	0.33354	0.144000	0.22314	0.390000	0.30446	1.597000	0.36729	0.977000	0.38444	0.462000	0.41574	ACG		0.672	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		9	21	0	0	0	0	9	21				
IL17RE	132014	broad.mit.edu	37	3	9944734	9944734	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:9944734C>G	ENST00000383814.3	+	1	223	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V	IL17RE_ENST00000454190.2_Missense_Mutation_p.L40V|IL17RE_ENST00000295980.3_Missense_Mutation_p.L40V|IL17RE_ENST00000421412.1_Missense_Mutation_p.L73V	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	40					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CCGCTGTCCTCTGGCCTCCCA	0.637																																						uc003btu.2		NA																	0				central_nervous_system(1)	1						c.(118-120)CTG>GTG		interleukin 17 receptor E isoform 1							63.0	59.0	60.0					3																	9944734		2203	4300	6503	SO:0001583	missense	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9944734C>G	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.118C>G	3.37:g.9944734C>G	ENSP00000373325:p.Leu40Val					CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Missense_Mutation_p.L40V|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.L40V|IL17RE_uc003btx.2_5'UTR|IL17RE_uc010hcq.2_Missense_Mutation_p.L40V|IL17RE_uc003bty.2_RNA	p.L40V	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	2	235	+			40			Extracellular (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	ENST00000383814.3	37	c.118C>G	CCDS2589.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388556	0.61956	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.79	3.92	0.45320	.	0.178737	0.26616	N	0.023386	T	0.48572	0.1507	L	0.59436	1.845	0.19575	N	0.999963	D;D;D	0.71674	0.994;0.998;0.989	P;D;P	0.66196	0.831;0.942;0.681	T	0.33292	-0.9874	10	0.22109	T	0.4	-7.9116	9.6132	0.39676	0.0:0.9003:0.0:0.0997	.	40;40;40	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	V	73;40;40;40;40	ENSP00000404916:L73V;ENSP00000295980:L40V;ENSP00000373325:L40V;ENSP00000388086:L40V	ENSP00000295980:L40V	L	+	1	2	IL17RE	9919734	0.917000	0.31117	0.643000	0.29450	0.027000	0.11550	2.071000	0.41500	1.139000	0.42245	0.655000	0.94253	CTG		0.637	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		14	45	0	0	0	0	14	45				
CFAP44	55779	broad.mit.edu	37	3	113098399	113098399	+	Splice_Site	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:113098399C>G	ENST00000295868.2	-	17	2215		c.e17-1		WDR52_ENST00000475568.1_5'Flank|WDR52_ENST00000393845.2_Splice_Site	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						CTATTAATCTCTTTTAAAATA	0.343																																						uc003eae.1		NA																	0				central_nervous_system(1)	1						c.e17-1		WD repeat domain 52 isoform 2							54.0	56.0	56.0					3																	113098399		2203	4299	6502	SO:0001630	splice_region_variant	55779							g.chr3:113098399C>G																												ENST00000295868.2:c.2053-1G>C	3.37:g.113098399C>G							p.R685_splice	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			17	2099	-									Splice_Site	SNP	ENST00000295868.2	37	c.2053_splice	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.051975	0.55218	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0064	0.92852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR52	114581089	1.000000	0.71417	0.996000	0.52242	0.766000	0.43426	5.168000	0.64978	2.826000	0.97356	0.563000	0.77884	.		0.343	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		Intron	7	61	0	0	0	0	7	61				
ARHGAP31	57514	broad.mit.edu	37	3	119133482	119133482	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:119133482G>A	ENST00000264245.4	+	12	3238	c.2706G>A	c.(2704-2706)ctG>ctA	p.L902L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	902					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCATGGCCTGGAGATGGTGG	0.572																																					Pancreas(7;176 297 5394 51128 51241)	uc003ecj.3		NA																	0				ovary(2)	2						c.(2704-2706)CTG>CTA		Cdc42 GTPase-activating protein							98.0	102.0	101.0					3																	119133482		2050	4201	6251	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133482G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2706G>A	3.37:g.119133482G>A							p.L902L	NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN			12	3238	+			902					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.2706G>A	CCDS43135.1																																																																																				0.572	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			36	141	0	0	0	0	36	141				
ALDH1L1	10840	broad.mit.edu	37	3	125828902	125828902	+	Silent	SNP	G	G	A	rs141918591		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:125828902G>A	ENST00000393434.2	-	20	2581	c.2232C>T	c.(2230-2232)acC>acT	p.T744T	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Silent_p.T744T|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.T643T|ALDH1L1_ENST00000273450.3_Silent_p.T754T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	744	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.T744T(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCCGTGGTCGGTGTCCCTGT	0.597																																						uc003eim.1		NA																	1	Substitution - coding silent(1)		breast(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2230-2232)ACC>ACT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)	G		0,4406		0,0,2203	149.0	123.0	132.0		2232	1.9	1.0	3	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ALDH1L1	NM_012190.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		744/903	125828902	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125828902G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2232C>T	3.37:g.125828902G>A						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.T643T|ALDH1L1_uc003ein.1_Silent_p.T279T	p.T744T	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	20	2422	-			744			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2232C>T	CCDS3034.1																																																																																				0.597	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		10	86	0	0	0	0	10	86				
ALDH1L1	10840	broad.mit.edu	37	3	125833454	125833454	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:125833454C>T	ENST00000393434.2	-	18	2377	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G	ALDH1L1_ENST00000472186.1_Silent_p.G676G|ALDH1L1_ENST00000273450.3_Silent_p.G686G|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Silent_p.G575G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	676	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGGGTGACTTCCCGCCCAGTT	0.617																																						uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2026-2028)GGG>GGA		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						166.0	148.0	154.0					3																	125833454		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125833454C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2028G>A	3.37:g.125833454C>T						ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Silent_p.G575G|ALDH1L1_uc003ein.1_Silent_p.G211G	p.G676G	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	18	2218	-			676			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2028G>A	CCDS3034.1																																																																																				0.617	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		6	194	0	0	0	0	6	194				
ZIC4	84107	broad.mit.edu	37	3	147114162	147114162	+	Silent	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:147114162G>C	ENST00000383075.3	-	3	677	c.165C>G	c.(163-165)ccC>ccG	p.P55P	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Silent_p.P55P|ZIC4_ENST00000425731.3_Silent_p.P93P|ZIC4_ENST00000473123.1_Silent_p.P55P|ZIC4_ENST00000525172.2_Silent_p.P105P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	55						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGGACGGCTGGGGGAGGCCT	0.721																																						uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(163-165)CCC>CCG		zinc finger protein of the cerebellum 4							13.0	17.0	16.0					3																	147114162		1861	4075	5936	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114162G>C	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.165C>G	3.37:g.147114162G>C						ZIC4_uc003ewc.1_5'UTR|ZIC4_uc011bno.1_Silent_p.P105P	p.P55P	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			3	438	-			55					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.165C>G	CCDS43160.1																																																																																				0.721	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			7	33	0	0	0	0	7	33				
BCHE	590	broad.mit.edu	37	3	165547586	165547586	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:165547586G>A	ENST00000264381.3	-	2	1402	c.1236C>T	c.(1234-1236)aaC>aaT	p.N412N	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	412					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CCTCACGGTAGTTTTCAGGTC	0.408																																						uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(1234-1236)AAC>AAT		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						76.0	82.0	80.0					3																	165547586		2203	4300	6503	SO:0001819	synonymous_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547586G>A	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1236C>T	3.37:g.165547586G>A						BCHE_uc003fen.3_Intron	p.N412N	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1396	-			412					A8K7P8	Silent	SNP	ENST00000264381.3	37	c.1236C>T	CCDS3198.1																																																																																				0.408	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			70	35	0	0	0	0	70	35				
LRRC31	79782	broad.mit.edu	37	3	169569457	169569457	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:169569457G>A	ENST00000316428.5	-	7	1166	c.1109C>T	c.(1108-1110)tCa>tTa	p.S370L	LRRC31_ENST00000397805.2_5'Flank|LRRC31_ENST00000523069.1_Missense_Mutation_p.S370L|LRRC31_ENST00000264676.5_Missense_Mutation_p.S314L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	370										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GATAACTAATGACTTCAATGC	0.413																																						uc003fgc.1		NA																	0				ovary(2)|skin(1)	3						c.(1108-1110)TCA>TTA		leucine rich repeat containing 31							122.0	118.0	119.0					3																	169569457		1853	4098	5951	SO:0001583	missense	79782							g.chr3:169569457G>A	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1109C>T	3.37:g.169569457G>A	ENSP00000325978:p.Ser370Leu					LRRC31_uc010hwp.1_Missense_Mutation_p.S314L	p.S370L	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		7	1186	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		370			LRR 6.		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.1109C>T	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770365	0.69992	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.54279	0.58;0.58;0.58	4.89	3.09	0.35607	.	0.576427	0.18885	N	0.128477	T	0.59998	0.2235	L	0.53729	1.69	0.09310	N	1	D;P	0.69078	0.997;0.935	P;B	0.57720	0.826;0.396	T	0.51521	-0.8695	10	0.46703	T	0.11	-8.68	10.7042	0.45946	0.1515:0.0:0.8485:0.0	.	314;370	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	L	370;314;370	ENSP00000325978:S370L;ENSP00000264676:S314L;ENSP00000429145:S370L	ENSP00000264676:S314L	S	-	2	0	LRRC31	171052151	0.505000	0.26131	0.012000	0.15200	0.342000	0.28953	2.657000	0.46724	0.487000	0.27698	0.462000	0.41574	TCA		0.413	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727		9	78	0	0	0	0	9	78				
PI4K2B	55300	broad.mit.edu	37	4	25258233	25258233	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:25258233G>A	ENST00000264864.6	+	4	882	c.693G>A	c.(691-693)aaG>aaA	p.K231K	PI4K2B_ENST00000512921.1_Silent_p.K135K	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	231	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.K231K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAGGCAAAAAGTATGCTTTAG	0.373																																						uc003grk.2		NA																	1	Substitution - coding silent(1)	p.K231K(1)	ovary(1)	ovary(2)|skin(2)	4						c.(691-693)AAG>AAA		phosphatidylinositol 4-kinase type 2 beta							118.0	119.0	119.0					4																	25258233		2203	4300	6503	SO:0001819	synonymous_variant	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25258233G>A	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.693G>A	4.37:g.25258233G>A						PI4K2B_uc011bxs.1_Silent_p.K135K	p.K231K	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN			4	826	+		Breast(46;0.173)	231			PI3K/PI4K.		Q9NUW2	Silent	SNP	ENST00000264864.6	37	c.693G>A	CCDS3433.1																																																																																				0.373	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		5	35	0	0	0	0	5	35				
MOB1B	92597	broad.mit.edu	37	4	71840892	71840892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:71840892G>T	ENST00000309395.2	+	4	499	c.298G>T	c.(298-300)Gga>Tga	p.G100*	MOB1B_ENST00000396051.2_Nonsense_Mutation_p.G105*|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	100					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										TTGGGCAGATGGAACGAACAT	0.348																																						uc003hfw.2		NA																	0					0						c.(298-300)GGA>TGA		MOB1, Mps One Binder kinase activator-like 1A							93.0	93.0	93.0					4																	71840892		2203	4300	6503	SO:0001587	stop_gained	92597				hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	g.chr4:71840892G>T	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.298G>T	4.37:g.71840892G>T	ENSP00000310189:p.Gly100*					MOBKL1A_uc003hfv.1_Nonsense_Mutation_p.G100*|MOBKL1A_uc011cba.1_Nonsense_Mutation_p.G105*	p.G100*	NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	Lung(101;0.235)		4	488	+		all_hematologic(202;0.21)	100					B2R8U6|B4DRY3|Q8IY23	Nonsense_Mutation	SNP	ENST00000309395.2	37	c.298G>T	CCDS34002.1	.	.	.	.	.	.	.	.	.	.	G	37	5.992797	0.97179	.	.	ENSG00000173542	ENST00000502869;ENST00000309395;ENST00000396051	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.9648	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	105;100;105	.	ENSP00000310189:G100X	G	+	1	0	MOBKL1A	72059756	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.675000	0.98638	2.873000	0.98535	0.561000	0.74099	GGA		0.348	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468		6	43	1	0	5.94e-07	1.78e-06	6	43				
FAM175A	84142	broad.mit.edu	37	4	84383771	84383771	+	Silent	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:84383771G>T	ENST00000321945.7	-	9	1189	c.1081C>A	c.(1081-1083)Cgg>Agg	p.R361R	MRPS18C_ENST00000509571.1_Intron|FAM175A_ENST00000506553.1_Silent_p.R312R	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	361					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TCTAACAACCGAGATCTCTTG	0.393																																						uc003hou.2		NA																	0				kidney(1)	1						c.(1081-1083)CGG>AGG		coiled-coil domain containing 98							253.0	226.0	235.0					4																	84383771		2203	4300	6503	SO:0001819	synonymous_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84383771G>T	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.1081C>A	4.37:g.84383771G>T						MRPS18C_uc011ccu.1_Intron|FAM175A_uc003hot.2_Silent_p.R189R|FAM175A_uc003hov.2_Silent_p.R252R	p.R361R	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN			9	1146	-			361					A5JJ07|Q9H8I1|Q9H9N4	Silent	SNP	ENST00000321945.7	37	c.1081C>A	CCDS3605.2																																																																																				0.393	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076		34	120	1	0	1.27e-14	4e-14	34	120				
ARSJ	79642	broad.mit.edu	37	4	114824711	114824711	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:114824711C>T	ENST00000315366.7	-	2	1385	c.519G>A	c.(517-519)atG>atA	p.M173I	ARSJ_ENST00000541197.1_Missense_Mutation_p.M173I	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	173					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ATTTTCCGACCATATGCGTTG	0.433																																						uc003ibq.1		NA																	0				ovary(1)	1						c.(517-519)ATG>ATA		arylsulfatase J precursor							219.0	196.0	203.0					4																	114824711		1888	4122	6010	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114824711C>T		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.519G>A	4.37:g.114824711C>T	ENSP00000320219:p.Met173Ile					ARSJ_uc010imu.1_Missense_Mutation_p.M173I|ARSJ_uc010imv.1_Missense_Mutation_p.M1I	p.M173I	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	1407	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	173					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.519G>A	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689623	0.68271	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.98567	-5.0;-5.0	5.51	5.51	0.81932	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	L	0.56124	1.755	0.58432	D	0.999999	P;B	0.48350	0.909;0.437	P;B	0.55222	0.771;0.241	D	0.97828	1.0261	10	0.33141	T	0.24	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	173;173	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	I	173	ENSP00000320219:M173I;ENSP00000438836:M173I	ENSP00000320219:M173I	M	-	3	0	ARSJ	115044160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.720000	0.84759	2.573000	0.86826	0.655000	0.94253	ATG		0.433	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		16	83	0	0	0	0	16	83				
FAT1	2195	broad.mit.edu	37	4	187517874	187517874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr4:187517874C>A	ENST00000441802.2	-	25	13029	c.12820G>T	c.(12820-12822)Gaa>Taa	p.E4274*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4274					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						GCAGATCCTTCGAAGGAATTT	0.532										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.(12820-12822)GAA>TAA		FAT tumor suppressor 1 precursor							76.0	78.0	78.0					4																	187517874		1981	4190	6171	SO:0001587	stop_gained	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.chr4:187517874C>A	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.12820G>T	4.37:g.187517874C>A	ENSP00000406229:p.Glu4274*	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Nonsense_Mutation_p.E165*	p.E4274*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			25	13008	-			4274			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.12820G>T	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.405701|4.405701	0.83230|0.83230	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000441802;ENST00000260147|ENST00000512772	.|.	.|.	.|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75034	.|0.3795	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73119	.|-0.4083	.|3	0.09843|.	T|.	0.71|.	.|.	19.0114|19.0114	0.92874|0.92874	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	4274;4276|41	.|.	ENSP00000260147:E4276X|.	E|R	-|-	1|2	0|0	FAT1|FAT1	187754868|187754868	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.556000|0.556000	0.35491|0.35491	7.651000|7.651000	0.83577|0.83577	2.739000|2.739000	0.93911|0.93911	0.555000|0.555000	0.69702|0.69702	GAA|CGA		0.532	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		19	14	1	0	7.45e-12	2.34e-11	19	14				
SLC6A18	348932	broad.mit.edu	37	5	1232407	1232407	+	Silent	SNP	C	C	T	rs141321317	byFrequency	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:1232407C>T	ENST00000324642.3	+	2	357	c.234C>T	c.(232-234)atC>atT	p.I78I	SLC6A18_ENST00000296821.4_Silent_p.I78I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	78					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AGCTCGCCATCGGCCAGCGGC	0.662																																						uc003jby.1		NA																	0				ovary(1)	1						c.(232-234)ATC>ATT		solute carrier family 6, member 18		C		3,4403	6.2+/-15.9	0,3,2200	40.0	40.0	40.0		234	-5.9	0.8	5	dbSNP_134	40	0,8598		0,0,4299	no	coding-synonymous	SLC6A18	NM_182632.2		0,3,6499	TT,TC,CC		0.0,0.0681,0.0231		78/629	1232407	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232407C>T	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.234C>T	5.37:g.1232407C>T							p.I78I	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	357	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		78			Cytoplasmic (Potential).			Silent	SNP	ENST00000324642.3	37	c.234C>T	CCDS3860.1																																																																																				0.662	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		5	44	0	0	0	0	5	44				
RXFP3	51289	broad.mit.edu	37	5	33937333	33937333	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:33937333C>T	ENST00000330120.3	+	1	843	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	163					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ATGGTGACGTCCATGAACATG	0.582																																						uc003jic.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(487-489)TCC>TTC		relaxin/insulin-like family peptide receptor 3							122.0	110.0	114.0					5																	33937333		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937333C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.488C>T	5.37:g.33937333C>T	ENSP00000328708:p.Ser163Phe						p.S163F	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	845	+			163			Helical; Name=3; (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.488C>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697866	0.48307	.	.	ENSG00000182631	ENST00000330120	T	0.30714	1.52	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.052608	0.85682	D	0.000000	T	0.24509	0.0594	N	0.11427	0.14	0.48341	D	0.999631	P	0.42203	0.773	P	0.46885	0.53	T	0.03784	-1.1004	10	0.10111	T	0.7	-32.5918	19.1745	0.93599	0.0:1.0:0.0:0.0	.	163	Q9NSD7	RL3R1_HUMAN	F	163	ENSP00000328708:S163F	ENSP00000328708:S163F	S	+	2	0	RXFP3	33973090	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.335000	0.52105	2.529000	0.85273	0.555000	0.69702	TCC		0.582	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		18	66	0	0	0	0	18	66				
ITGA2	3673	broad.mit.edu	37	5	52376453	52376453	+	Splice_Site	SNP	T	T	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:52376453T>C	ENST00000296585.5	+	25	3182		c.e25+2			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACAGACAAGGTAAAGATTAAA	0.383																																						uc003joy.2		NA																	0				lung(1)	1						c.e25+2		integrin alpha 2 precursor							100.0	97.0	98.0					5																	52376453		2203	4300	6503	SO:0001630	splice_region_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52376453T>C		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3039+2T>C	5.37:g.52376453T>C						ITGA2_uc011cqa.1_Splice_Site|ITGA2_uc011cqb.1_Splice_Site|ITGA2_uc011cqc.1_Splice_Site_p.K937_splice|ITGA2_uc011cqd.1_Splice_Site|ITGA2_uc011cqe.1_Splice_Site	p.K1013_splice	NM_002203	NP_002194	P17301	ITA2_HUMAN			25	3182	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)						Q14595	Splice_Site	SNP	ENST00000296585.5	37	c.3039_splice	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.997790	0.74818	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1958	0.73088	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGA2	52412210	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	5.970000	0.70431	2.308000	0.77769	0.533000	0.62120	.		0.383	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	Intron	19	47	0	0	0	0	19	47				
NLN	57486	broad.mit.edu	37	5	65054536	65054536	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:65054536G>C	ENST00000380985.5	+	2	362	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	62						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		AACAAGAACTGAGGAGCTCAT	0.448																																						uc003juf.2		NA																	0				central_nervous_system(1)	1						c.(184-186)GAG>CAG		neurolysin precursor							110.0	101.0	104.0					5																	65054536		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65054536G>C	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.184G>C	5.37:g.65054536G>C	ENSP00000370372:p.Glu62Gln					NLN_uc003jue.2_Missense_Mutation_p.E62Q	p.E62Q	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	2	300	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	62					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.184G>C	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682245	0.68042	.	.	ENSG00000123213	ENST00000380985;ENST00000340159	T	0.10005	2.92	5.5	5.5	0.81552	Neurolysin/Thimet oligopeptidase, N-terminal (1);	0.254451	0.40469	N	0.001087	T	0.16938	0.0407	L	0.52364	1.645	0.80722	D	1	B;P	0.42757	0.009;0.789	B;B	0.43301	0.01;0.415	T	0.00503	-1.1701	10	0.46703	T	0.11	-19.3608	19.4102	0.94670	0.0:0.0:1.0:0.0	.	62;62	Q9BYT8;Q9BQD0	NEUL_HUMAN;.	Q	62	ENSP00000370372:E62Q	ENSP00000339283:E62Q	E	+	1	0	NLN	65090292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.193000	0.94954	2.599000	0.87857	0.655000	0.94253	GAG		0.448	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			15	39	0	0	0	0	15	39				
SPZ1	84654	broad.mit.edu	37	5	79616524	79616524	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:79616524C>G	ENST00000296739.4	+	1	735	c.490C>G	c.(490-492)Ctt>Gtt	p.L164V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	164					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TATCAGAGGACTTGACAAAAT	0.368																																						uc003kgn.2		NA																	0				ovary(1)	1						c.(490-492)CTT>GTT		spermatogenic leucine zipper 1							55.0	49.0	51.0					5																	79616524		1811	4066	5877	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616524C>G		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.490C>G	5.37:g.79616524C>G	ENSP00000369611:p.Leu164Val					uc011ctk.1_Intron	p.L164V	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	735	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	164					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.490C>G	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	C	4.449	0.083059	0.08533	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.54675	0.56;0.95	2.44	1.54	0.23209	.	0.832959	0.10082	N	0.718309	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	P	0.45558	0.485	T	0.06881	-1.0802	10	0.15952	T	0.53	-24.4376	3.1835	0.06593	0.2587:0.5901:0.0:0.1512	.	164	Q9BXG8	SPZ1_HUMAN	V	164	ENSP00000426530:L164V;ENSP00000369611:L164V	ENSP00000369611:L164V	L	+	1	0	SPZ1	79652280	0.130000	0.22417	0.025000	0.17156	0.321000	0.28281	0.408000	0.21065	0.601000	0.29879	0.383000	0.25322	CTT		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		7	33	0	0	0	0	7	33				
ANKHD1	54882	broad.mit.edu	37	5	139865277	139865277	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:139865277A>T	ENST00000360839.2	+	13	2256	c.2102A>T	c.(2101-2103)gAt>gTt	p.D701V	ANKHD1_ENST00000297183.6_Missense_Mutation_p.D701V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D701V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	701						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)			CCCACCACAGATGTGTCTCAG	0.378																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(2101-2103)GAT>GTT		ANKHD1-EIF4EBP3 protein							141.0	133.0	136.0					5																	139865277		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139865277A>T	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.2102A>T	5.37:g.139865277A>T	ENSP00000354085:p.Asp701Val					ANKHD1_uc003lfq.1_Missense_Mutation_p.D720V|ANKHD1_uc003lfr.2_Missense_Mutation_p.D701V|ANKHD1_uc003lft.1_Missense_Mutation_p.D181V|ANKHD1_uc003lfu.1_Missense_Mutation_p.D181V|ANKHD1_uc003lfv.1_Missense_Mutation_p.D31V	p.D701V	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	2226	+			701					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.2102A>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.6|25.6	4.656851|4.656851	0.88154|0.88154	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219|ENST00000246149	T;T;T;T;T|.	0.67865|.	-0.26;-0.29;-0.15;-0.25;-0.29|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Ankyrin repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71400|0.71400	0.3335|0.3335	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.991;1.0;0.988;1.0;0.999|.	P;D;P;D;D|.	0.74674|.	0.831;0.984;0.543;0.975;0.963|.	T|T	0.70773|0.70773	-0.4781|-0.4781	10|5	0.30854|.	T|.	0.27|.	.|.	15.4595|15.4595	0.75342|0.75342	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	181;701;720;701;701|.	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3|.	.;.;.;.;ANKH1_HUMAN|.	V|L	701;734;701;701;235;181;720;107;701|196	ENSP00000354085:D701V;ENSP00000297183:D701V;ENSP00000394489:D720V;ENSP00000405602:D107V;ENSP00000432016:D701V|.	ENSP00000432016:D701V|.	D|M	+|+	2|1	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139845461|139845461	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.800000|0.800000	0.45204|0.45204	9.287000|9.287000	0.95975|0.95975	2.108000|2.108000	0.64289|0.64289	0.459000|0.459000	0.35465|0.35465	GAT|ATG		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		9	34	0	0	0	0	9	34				
PCDHGA10	56106	broad.mit.edu	37	5	140793166	140793166	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:140793166C>G	ENST00000398610.2	+	1	424	c.424C>G	c.(424-426)Cta>Gta	p.L142V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	142	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAAAATCTAGACGTAAA	0.413																																						uc003lkl.1		NA																	0					0						c.(424-426)CTA>GTA		protocadherin gamma subfamily A, 10 isoform 1							46.0	49.0	48.0					5																	140793166		1902	4143	6045	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140793166C>G		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.424C>G	5.37:g.140793166C>G	ENSP00000381611:p.Leu142Val					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_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.L142V	p.L142V	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	424	+			142			Extracellular (Potential).|Cadherin 2.		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.424C>G	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	3.152	-0.173927	0.06421	.	.	ENSG00000253846	ENST00000398610	T	0.20598	2.06	5.69	-1.55	0.08558	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.12860	0.0312	L	0.39397	1.21	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.17979	0.012;0.02	T	0.34601	-0.9822	9	0.27785	T	0.31	.	1.7199	0.02909	0.3076:0.3379:0.204:0.1505	.	142;142	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	V	142	ENSP00000381611:L142V	ENSP00000381611:L142V	L	+	1	2	PCDHGA10	140773350	0.000000	0.05858	0.645000	0.29479	0.452000	0.32318	-1.139000	0.03213	-0.047000	0.13423	0.557000	0.71058	CTA		0.413	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		10	26	0	0	0	0	10	26				
CYFIP2	26999	broad.mit.edu	37	5	156816398	156816398	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr5:156816398T>A	ENST00000521420.1	+	28	3422	c.3331T>A	c.(3331-3333)Tac>Aac	p.Y1111N	CYFIP2_ENST00000377576.3_Missense_Mutation_p.Y1137N|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000347377.6_Missense_Mutation_p.Y1137N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.Y941N|CYFIP2_ENST00000541131.1_Missense_Mutation_p.Y1062N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.Y1162N|CYFIP2_ENST00000435847.2_Missense_Mutation_p.Y836N					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGTTCGTGTACTGCATCCC	0.622																																						uc003lwq.2		NA																	0					0						c.(3409-3411)TAC>AAC		cytoplasmic FMR1 interacting protein 2							54.0	62.0	59.0					5																	156816398		2158	4280	6438	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156816398T>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3331T>A	5.37:g.156816398T>A	ENSP00000430904:p.Tyr1111Asn					CYFIP2_uc011ddn.1_Missense_Mutation_p.Y1111N|CYFIP2_uc011ddo.1_Missense_Mutation_p.Y941N|CYFIP2_uc003lwr.2_Missense_Mutation_p.Y1137N|CYFIP2_uc003lws.2_Missense_Mutation_p.Y1137N|CYFIP2_uc003lwt.2_Missense_Mutation_p.Y1040N|CYFIP2_uc011ddp.1_Missense_Mutation_p.Y871N|CYFIP2_uc003lwv.2_Missense_Mutation_p.Y92N	p.Y1137N	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		31	3547	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	1162						Missense_Mutation	SNP	ENST00000521420.1	37	c.3409T>A		.	.	.	.	.	.	.	.	.	.	T	26.9	4.778112	0.90195	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.80982	2.52	0.80722	D	1	D;D;D;P;P;P	0.67145	0.964;0.996;0.987;0.927;0.942;0.91	P;D;D;P;P;D	0.67900	0.737;0.954;0.942;0.69;0.786;0.95	T	0.52041	-0.8628	10	0.34782	T	0.22	-25.7788	14.89	0.70600	0.0:0.0:0.0:1.0	.	1001;941;1111;1137;1137;1162	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	N	1162;941;1111;1137;1137;1062;836	ENSP00000325817:Y1162N;ENSP00000428009:Y941N;ENSP00000430904:Y1111N;ENSP00000313567:Y1137N;ENSP00000366799:Y1137N;ENSP00000444645:Y1062N;ENSP00000403793:Y836N	ENSP00000325817:Y1162N	Y	+	1	0	CYFIP2	156748976	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.790000	0.85794	1.970000	0.57323	0.533000	0.62120	TAC		0.622	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		7	15	0	0	0	0	7	15				
KIAA0319	9856	broad.mit.edu	37	6	24570136	24570136	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:24570136G>A	ENST00000378214.3	-	12	2510	c.1986C>T	c.(1984-1986)caC>caT	p.H662H	KIAA0319_ENST00000537886.1_Silent_p.H662H|KIAA0319_ENST00000535378.1_Silent_p.H653H|KIAA0319_ENST00000543707.1_Silent_p.H662H|KIAA0319_ENST00000430948.2_Silent_p.H617H	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	662	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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						ACTACCTGACGTGCTCCCAGT	0.527																																						uc011djo.1		NA																	0				ovary(1)|skin(1)	2						c.(1984-1986)CAC>CAT		KIAA0319 precursor							114.0	101.0	106.0					6																	24570136		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24570136G>A	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.1986C>T	6.37:g.24570136G>A						KIAA0319_uc011djp.1_Silent_p.H617H|KIAA0319_uc003neh.1_Silent_p.H662H|KIAA0319_uc011djq.1_Silent_p.H653H|KIAA0319_uc011djr.1_Silent_p.H662H|KIAA0319_uc010jpt.1_Silent_p.H73H	p.H662H	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			12	2223	-			662			PKD 4.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.1986C>T	CCDS34348.1																																																																																				0.527	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		10	21	0	0	0	0	10	21				
MDC1	9656	broad.mit.edu	37	6	30668370	30668370	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:30668370G>T	ENST00000376406.3	-	15	6789	c.6142C>A	c.(6142-6144)Cat>Aat	p.H2048N	MDC1_ENST00000376405.2_Missense_Mutation_p.H1784N|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2048	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).			H -> R (in Ref. 2). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ATGGAGCAATGAGGGAAGTCC	0.537								Other conserved DNA damage response genes																														uc003nrg.3		NA																	0				breast(2)|ovary(1)|kidney(1)	4						c.(6142-6144)CAT>AAT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							116.0	108.0	111.0					6																	30668370		1510	2709	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30668370G>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.6142C>A	6.37:g.30668370G>T	ENSP00000365588:p.His2048Asn					MDC1_uc003nrf.3_Missense_Mutation_p.H679N	p.H2048N	NM_014641	NP_055456	Q14676	MDC1_HUMAN			15	6582	-			2048	H -> R (in Ref. 2).		Required for nuclear localization (NLS2).|BRCT 2.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.6142C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668220	0.47677	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.88896	-2.44;-2.44	6.03	4.09	0.47781	BRCT (2);	0.294920	0.18595	N	0.136634	T	0.55641	0.1933	N	0.02539	-0.55	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.12837	0.008;0.0	T	0.51100	-0.8748	10	0.37606	T	0.19	-3.5287	8.4049	0.32608	0.0854:0.0:0.7506:0.1641	.	2048;1025	Q14676;Q14676-4	MDC1_HUMAN;.	N	2048;1784;1761;1614	ENSP00000365588:H2048N;ENSP00000365587:H1784N	ENSP00000365587:H1784N	H	-	1	0	MDC1	30776349	0.159000	0.22864	0.113000	0.21522	0.370000	0.29829	2.619000	0.46401	1.582000	0.49881	0.644000	0.83932	CAT		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	91	1	0	2.01e-06	5.99e-06	6	91				
HSPA1L	3305	broad.mit.edu	37	6	31778361	31778361	+	Silent	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:31778361C>G	ENST00000375654.4	-	2	1578	c.1389G>C	c.(1387-1389)ctG>ctC	p.L463L	HSPA1L_ENST00000417199.3_Silent_p.L463L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	463					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGATTCCAGTCAGGTCAAACC	0.552																																						uc003nxh.2		NA																	0				ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1387-1389)CTG>CTC		heat shock 70kDa protein 1-like							121.0	115.0	117.0					6																	31778361		2203	4300	6503	SO:0001819	synonymous_variant	3305				response to unfolded protein		ATP binding	g.chr6:31778361C>G	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1389G>C	6.37:g.31778361C>G						HSPA1L_uc010jte.2_Silent_p.L463L	p.L463L	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	1572	-			463					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.1389G>C	CCDS34413.1																																																																																				0.552	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			34	100	0	0	0	0	34	100				
TEAD3	7005	broad.mit.edu	37	6	35443391	35443391	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:35443391G>A	ENST00000402886.3	-	9	966	c.813C>T	c.(811-813)gtC>gtT	p.V271V	TEAD3_ENST00000338863.7_Silent_p.V331V			Q99594	TEAD3_HUMAN	TEA domain family member 3	331	Transcriptional activation. {ECO:0000255}.				female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCTTGGTGGAGACGCTGATGG	0.617																																						uc003oku.3		NA																	0				ovary(1)	1						c.(991-993)GTC>GTT		TEA domain family member 3							72.0	82.0	78.0					6																	35443391		2147	4278	6425	SO:0001819	synonymous_variant	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35443391G>A	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.813C>T	6.37:g.35443391G>A						TEAD3_uc003okt.2_Silent_p.V220V|TEAD3_uc010jvx.2_Silent_p.V271V	p.V331V	NM_003214	NP_003205	Q99594	TEAD3_HUMAN			11	1229	-			331			Transcriptional activation (Potential).		O95910|Q5BJG7|Q8N6Y4	Silent	SNP	ENST00000402886.3	37	c.993C>T																																																																																					0.617	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			13	42	0	0	0	0	13	42				
RIPPLY2	134701	broad.mit.edu	37	6	84567050	84567050	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:84567050C>G	ENST00000369689.1	+	4	480	c.329C>G	c.(328-330)tCa>tGa	p.S110*	CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank|RIPPLY2_ENST00000369687.1_Nonsense_Mutation_p.S52*	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	110	Ripply homology domain. {ECO:0000255}.				bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCCACAATTTCATTTTATGAA	0.323																																						uc003pke.2		NA																	0					0						c.(328-330)TCA>TGA		ripply2 protein							55.0	62.0	59.0					6																	84567050		2203	4291	6494	SO:0001587	stop_gained	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84567050C>G	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.329C>G	6.37:g.84567050C>G	ENSP00000358703:p.Ser110*					CYB5R4_uc003pkf.2_5'Flank	p.S110*	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN			4	480	+			110			Ripply homology domain.		Q5TAB6	Nonsense_Mutation	SNP	ENST00000369689.1	37	c.329C>G	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898634	0.91962	.	.	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	5.64	5.64	0.86602	.	0.066381	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.6917	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	110;52	.	ENSP00000358701:S52X	S	+	2	0	RIPPLY2	84623769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.199000	0.58426	2.937000	0.99478	0.650000	0.86243	TCA		0.323	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1	NM_001009994		15	53	0	0	0	0	15	53				
EPHA7	2045	broad.mit.edu	37	6	94066437	94066437	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:94066437G>T	ENST00000369303.4	-	5	1506	c.1322C>A	c.(1321-1323)gCa>gAa	p.A441E		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	441	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AAACATACCTGCTTGACCAGT	0.398																																						uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(1321-1323)GCA>GAA		ephrin receptor EphA7 precursor							90.0	92.0	91.0					6																	94066437		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066437G>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1322C>A	6.37:g.94066437G>T	ENSP00000358309:p.Ala441Glu					EPHA7_uc003pof.2_Missense_Mutation_p.A441E|EPHA7_uc011eac.1_Missense_Mutation_p.A441E	p.A441E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1563	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	441			Extracellular (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1322C>A	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832214	0.71258	.	.	ENSG00000135333	ENST00000369303	T	0.55052	0.54	5.85	5.85	0.93711	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.102496	0.64402	D	0.000003	T	0.49012	0.1532	M	0.81497	2.545	0.80722	D	1	P;B;B	0.37330	0.59;0.098;0.059	B;B;B	0.35353	0.201;0.046;0.021	T	0.55483	-0.8134	10	0.44086	T	0.13	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	441;441;441	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	E	441	ENSP00000358309:A441E	ENSP00000358309:A441E	A	-	2	0	EPHA7	94123158	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.835000	0.99442	2.772000	0.95346	0.650000	0.86243	GCA		0.398	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			9	39	1	0	7.48e-07	2.24e-06	9	39				
SNX3	8724	broad.mit.edu	37	6	108533400	108533400	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:108533400C>T	ENST00000230085.8	-	4	780	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SNX3_ENST00000349379.5_Missense_Mutation_p.E126K|SNX3_ENST00000426155.2_Missense_Mutation_p.E116K	NM_003795.4	NP_003786.1	O60493	SNX3_HUMAN	sorting nexin 3	148	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				hemoglobin biosynthetic process (GO:0042541)|intracellular protein transport (GO:0006886)|intralumenal vesicle formation (GO:0070676)|membrane invagination (GO:0010324)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein transport (GO:0051224)|negative regulation of viral entry into host cell (GO:0046597)|regulation of cellular protein metabolic process (GO:0032268)|regulation of intracellular protein transport (GO:0033157)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein phosphatase binding (GO:0019903)			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		TCTATTATTTCATCTTGTAAA	0.338																																						uc003psh.2		NA																	0					0						c.(442-444)GAA>AAA		sorting nexin 3 isoform a							88.0	81.0	83.0					6																	108533400		2203	4300	6503	SO:0001583	missense	8724				cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding	g.chr6:108533400C>T	AF034546	CCDS5064.1, CCDS5065.1, CCDS75501.1	6q21	2010-08-05			ENSG00000112335	ENSG00000112335		"""Sorting nexins"""	11174	protein-coding gene	gene with protein product		605930				9819414	Standard	XM_005267192		Approved	Grd19	uc003psh.3	O60493	OTTHUMG00000015323	ENST00000230085.8:c.442G>A	6.37:g.108533400C>T	ENSP00000230085:p.Glu148Lys					SNX3_uc003psi.2_Missense_Mutation_p.E116K|SNX3_uc010kdi.2_RNA	p.E148K	NM_003795	NP_003786	O60493	SNX3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)	4	781	-		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)	148			PX.		A8K0B1|E1P5E4|E1P5E5|O60718|Q4TT29|Q4TT31|Q5JXJ7|Q5JXJ8|Q96AP9|Q9C0J5|Q9NU45	Missense_Mutation	SNP	ENST00000230085.8	37	c.442G>A	CCDS5064.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732667	0.48939	.	.	ENSG00000112335	ENST00000230085;ENST00000426155;ENST00000349379	T;T	0.66099	-0.19;-0.18	6.08	5.22	0.72569	Phox homologous domain (4);	0.134719	0.64402	D	0.000003	T	0.22975	0.0555	N	0.05383	-0.06	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.007	T	0.14980	-1.0453	10	0.11485	T	0.65	-15.9498	15.3893	0.74729	0.0:0.9335:0.0:0.0665	.	116;148	O60493-2;O60493	.;SNX3_HUMAN	K	148;116;126	ENSP00000230085:E148K;ENSP00000296991:E126K	ENSP00000230085:E148K	E	-	1	0	SNX3	108640093	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.066000	0.71185	1.587000	0.49959	0.655000	0.94253	GAA		0.338	SNX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041717.1			4	23	0	0	0	0	4	23				
ZBTB24	9841	broad.mit.edu	37	6	109796641	109796641	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:109796641C>A	ENST00000230122.3	-	5	1416	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	417					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D417Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGAGACACATCCATGAATTTG	0.458																																						uc003ptl.1		NA																	1	Substitution - Missense(1)	p.D417Y(1)	ovary(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1249-1251)GAT>TAT		zinc finger and BTB domain containing 24 isoform							225.0	183.0	197.0					6																	109796641		2203	4300	6503	SO:0001583	missense	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109796641C>A	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1249G>T	6.37:g.109796641C>A	ENSP00000230122:p.Asp417Tyr					ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.D361Y|ZBTB24_uc010kdt.1_RNA	p.D417Y	NM_014797	NP_055612	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	5	1417	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	417			C2H2-type 5.		Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	c.1249G>T	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008483	0.93346	.	.	ENSG00000112365	ENST00000230122	T	0.06449	3.3	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	N	0.25031	0.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46091	-0.9216	10	0.24483	T	0.36	-33.7729	20.8794	0.99867	0.0:1.0:0.0:0.0	.	417	O43167	ZBT24_HUMAN	Y	417	ENSP00000230122:D417Y	ENSP00000230122:D417Y	D	-	1	0	ZBTB24	109903334	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.336000	0.79245	2.941000	0.99782	0.655000	0.94253	GAT		0.458	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		16	73	1	0	3.41e-10	1.06e-09	16	73				
RSPH10B2	728194	broad.mit.edu	37	7	6820509	6820509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:6820509C>A	ENST00000403107.1	+	13	1986	c.1599C>A	c.(1597-1599)tgC>tgA	p.C533*	RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000433859.2_Nonsense_Mutation_p.C533*|RSPH10B2_ENST00000297186.3_Nonsense_Mutation_p.C533*|RSPH10B2_ENST00000404077.1_Nonsense_Mutation_p.C533*|RSPH10B2_ENST00000463354.2_Intron			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	533										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						CAAATGCCTGCCAGATAAAAG	0.398																																						uc003sqw.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1597-1599)TGC>TGA		radial spoke head 10 homolog B							168.0	167.0	167.0					7																	6820509		2202	4300	6502	SO:0001587	stop_gained	728194							g.chr7:6820509C>A		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.1599C>A	7.37:g.6820509C>A	ENSP00000384766:p.Cys533*					RSPH10B2_uc010ktk.1_Nonsense_Mutation_p.C533*|RSPH10B2_uc011jxc.1_Intron|RSPH10B2_uc010ktl.1_Intron	p.C533*	NM_173565	NP_775836	B2RC85	R10B2_HUMAN			14	1870	+			533					A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Nonsense_Mutation	SNP	ENST00000403107.1	37	c.1599C>A	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	C	37	6.099937	0.97281	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859;ENST00000540958	.	.	.	3.78	1.66	0.24008	.	0.352623	0.25065	N	0.033418	.	.	.	.	.	.	0.27691	N	0.946101	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2771	0.15655	0.0:0.7066:0.0:0.2934	.	.	.	.	X	533;533;533;533;392	.	ENSP00000297186:C533X	C	+	3	2	RSPH10B2	6787034	0.408000	0.25360	0.907000	0.35723	0.459000	0.32528	0.351000	0.20096	0.805000	0.34159	0.109000	0.15622	TGC		0.398	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		5	140	1	0	4.69e-08	1.42e-07	5	140				
NXPH1	30010	broad.mit.edu	37	7	8791329	8791329	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:8791329A>G	ENST00000405863.1	+	3	1657	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	NXPH1_ENST00000602349.1_Missense_Mutation_p.Y132C|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	249	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTACAGATTATAAACTGGTA	0.448																																						uc003srv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(745-747)TAT>TGT		neurexophilin 1 precursor							29.0	26.0	27.0					7																	8791329		1875	4122	5997	SO:0001583	missense	30010					extracellular region		g.chr7:8791329A>G	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.746A>G	7.37:g.8791329A>G	ENSP00000384551:p.Tyr249Cys					NXPH1_uc011jxh.1_Missense_Mutation_p.Y132C	p.Y249C	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1657	+		Ovarian(82;0.0628)	249			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.746A>G	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.082765	0.55861	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	5.53	5.53	0.82687	.	0.057077	0.64402	D	0.000001	T	0.80319	0.4601	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83168	-0.0095	9	0.87932	D	0	-14.0849	15.827	0.78718	1.0:0.0:0.0:0.0	.	249	P58417	NXPH1_HUMAN	C	249;132	.	ENSP00000384551:Y249C	Y	+	2	0	NXPH1	8757854	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.107000	0.94261	2.324000	0.78689	0.533000	0.62120	TAT		0.448	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		7	20	0	0	0	0	7	20				
ITGB8	3696	broad.mit.edu	37	7	20421484	20421484	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:20421484C>T	ENST00000222573.4	+	6	1620	c.936C>T	c.(934-936)aaC>aaT	p.N312N	ITGB8_ENST00000537992.1_Silent_p.N177N	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	312	VWFA.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGAAAAACAACGTCTATGTCA	0.413																																						uc003suu.2		NA																	0				skin(3)	3						c.(934-936)AAC>AAT		integrin, beta 8 precursor							138.0	119.0	126.0					7																	20421484		2203	4300	6503	SO:0001819	synonymous_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20421484C>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.936C>T	7.37:g.20421484C>T						ITGB8_uc011jyh.1_Silent_p.N177N|ITGB8_uc003sut.2_Silent_p.N312N	p.N312N	NM_002214	NP_002205	P26012	ITB8_HUMAN			6	1641	+			312			VWFA.|Extracellular (Potential).		A4D133|B4DHD4	Silent	SNP	ENST00000222573.4	37	c.936C>T	CCDS5370.1																																																																																				0.413	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		5	52	0	0	0	0	5	52				
SP4	6671	broad.mit.edu	37	7	21550740	21550740	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:21550740G>A	ENST00000222584.3	+	6	2426	c.2208G>A	c.(2206-2208)ggG>ggA	p.G736G		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	736					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AAGGTGGTGGGACAGCTCTTG	0.448																																						uc003sva.2		NA																	0				ovary(3)|skin(2)	5						c.(2206-2208)GGG>GGA		Sp4 transcription factor							124.0	118.0	120.0					7																	21550740		2203	4300	6503	SO:0001819	synonymous_variant	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21550740G>A		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.2208G>A	7.37:g.21550740G>A						SP4_uc003svb.2_Silent_p.G423G	p.G736G	NM_003112	NP_003103	Q02446	SP4_HUMAN			6	2389	+			736					O60402|Q32M52	Silent	SNP	ENST00000222584.3	37	c.2208G>A	CCDS5373.1																																																																																				0.448	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		9	92	0	0	0	0	9	92				
DNAH11	8701	broad.mit.edu	37	7	21639716	21639716	+	Silent	SNP	C	C	T	rs529012666		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:21639716C>T	ENST00000409508.3	+	15	3010	c.2979C>T	c.(2977-2979)caC>caT	p.H993H	DNAH11_ENST00000328843.6_Silent_p.H993H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	993	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGCAACACACCTGGAAATTA	0.358									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2977-2979)CAC>CAT		dynein, axonemal, heavy chain 11							43.0	41.0	42.0					7																	21639716		1818	4066	5884	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639716C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2979C>T	7.37:g.21639716C>T							p.H993H	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	3010	+			993			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.2979C>T																																																																																					0.358	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	61	0	0	0	0	5	61				
BMPER	168667	broad.mit.edu	37	7	34125518	34125518	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:34125518A>T	ENST00000297161.2	+	14	1933	c.1559A>T	c.(1558-1560)gAt>gTt	p.D520V	BMPER_ENST00000426693.1_Missense_Mutation_p.D520V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	520	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTTGATGTGGATGACTTTGCT	0.468																																						uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1558-1560)GAT>GTT		BMP-binding endothelial regulator precursor							187.0	162.0	171.0					7																	34125518		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34125518A>T		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1559A>T	7.37:g.34125518A>T	ENSP00000297161:p.Asp520Val						p.D520V	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			13	1673	+			520			VWFD.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.1559A>T	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235155	0.79800	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.18657	2.2;2.2	6.08	6.08	0.98989	von Willebrand factor, type D domain (1);	0.040948	0.85682	D	0.000000	T	0.21631	0.0521	N	0.03016	-0.435	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	T	0.43766	-0.9371	10	0.25106	T	0.35	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	520	Q8N8U9	BMPER_HUMAN	V	520	ENSP00000297161:D520V;ENSP00000393950:D520V	ENSP00000297161:D520V	D	+	2	0	BMPER	34092043	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.711000	0.91396	2.333000	0.79357	0.533000	0.62120	GAT		0.468	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		27	88	0	0	0	0	27	88				
AMPH	273	broad.mit.edu	37	7	38530746	38530746	+	Splice_Site	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:38530746C>G	ENST00000356264.2	-	5	516		c.e5-1		AMPH_ENST00000325590.5_Splice_Site|AMPH_ENST00000428293.2_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CATCACATTTCTAAAAGAAAT	0.353																																						uc003tgu.2		NA																	0				ovary(3)|liver(1)|skin(1)	5						c.e5-1		amphiphysin isoform 1							99.0	98.0	98.0					7																	38530746		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38530746C>G		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.301-1G>C	7.37:g.38530746C>G						AMPH_uc003tgv.2_Splice_Site_p.K101_splice	p.K101_splice	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	370	-								A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37	c.301_splice	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034956	0.75617	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8497	0.88742	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMPH	38497271	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.797000	0.75150	2.512000	0.84698	0.460000	0.39030	.		0.353	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Intron	16	143	0	0	0	0	16	143				
TBL2	26608	broad.mit.edu	37	7	72988772	72988772	+	Silent	SNP	G	G	T	rs145718922		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:72988772G>T	ENST00000305632.5	-	2	443	c.202C>A	c.(202-204)Cgg>Agg	p.R68R	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.R68R|TBL2_ENST00000432538.1_Silent_p.R32R	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	68							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTCCTTCCGAATCCGCTGA	0.522																																						uc003tyh.2		NA																	0					0						c.(202-204)CGG>AGG		transducin (beta)-like 2							291.0	240.0	258.0					7																	72988772		2203	4300	6503	SO:0001819	synonymous_variant	26608							g.chr7:72988772G>T	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.202C>A	7.37:g.72988772G>T						TBL2_uc011kex.1_Silent_p.R32R|TBL2_uc010lbg.2_5'UTR|TBL2_uc003tyi.2_5'UTR|TBL2_uc011key.1_5'UTR|TBL2_uc010lbh.2_Intron	p.R68R	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			2	336	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	68					Q9UQE2	Silent	SNP	ENST00000305632.5	37	c.202C>A	CCDS5551.1																																																																																				0.522	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		14	59	1	0	9.31e-06	2.74e-05	14	59				
GTF2IRD1	9569	broad.mit.edu	37	7	73969808	73969808	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:73969808G>A	ENST00000265755.3	+	19	2445	c.2052G>A	c.(2050-2052)aaG>aaA	p.K684K	GTF2IRD1_ENST00000455841.2_Silent_p.K701K|GTF2IRD1_ENST00000424337.2_Silent_p.K669K|GTF2IRD1_ENST00000476977.1_Silent_p.K669K|GTF2IRD1_ENST00000489094.1_Intron	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	684					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGCCTGAAGAGACAGGGCT	0.607																																						uc003uaq.2		NA																	0				ovary(4)	4						c.(2050-2052)AAG>AAA		GTF2I repeat domain containing 1 isoform 1							72.0	64.0	67.0					7																	73969808		2203	4300	6503	SO:0001819	synonymous_variant	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73969808G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2052G>A	7.37:g.73969808G>A						GTF2IRD1_uc010lbq.2_Silent_p.K701K|GTF2IRD1_uc003uap.2_Silent_p.K669K|GTF2IRD1_uc003uar.1_Silent_p.K669K	p.K684K	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			19	2445	+			684					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Silent	SNP	ENST00000265755.3	37	c.2052G>A	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	9.316	1.056885	0.19907	.	.	ENSG00000006704	ENST00000470715	.	.	.	4.0	2.11	0.27256	.	.	.	.	.	T	0.56108	0.1963	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50415	-0.8831	4	.	.	.	-5.748	8.2945	0.31978	0.2047:0.0:0.7953:0.0	.	.	.	.	K	47	.	.	E	+	1	0	GTF2IRD1	73607744	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.728000	0.54991	0.809000	0.34255	-0.136000	0.14681	GAG		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		6	27	0	0	0	0	6	27				
SRRT	51593	broad.mit.edu	37	7	100485056	100485056	+	Silent	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:100485056G>A	ENST00000347433.4	+	16	2249	c.2091G>A	c.(2089-2091)gtG>gtA	p.V697V	SRRT_ENST00000432932.1_Silent_p.V696V|SRRT_ENST00000457580.2_Silent_p.V697V|SRRT_ENST00000388793.4_Silent_p.V696V			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	697					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGCAGGAAGTGGAGAAGTTCG	0.547																																						uc003uwy.2		NA																	0				ovary(2)	2						c.(2089-2091)GTG>GTA		arsenate resistance protein 2 isoform a							128.0	114.0	119.0					7																	100485056		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100485056G>A		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2091G>A	7.37:g.100485056G>A						SRRT_uc010lhl.1_Silent_p.V696V|SRRT_uc003uxa.2_Silent_p.V696V|SRRT_uc003uwz.2_Silent_p.V697V	p.V697V	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			17	2359	+			697					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.2091G>A	CCDS34709.1																																																																																				0.547	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		31	62	0	0	0	0	31	62				
DOCK4	9732	broad.mit.edu	37	7	111617324	111617324	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:111617324A>T	ENST00000437633.1	-	8	820	c.564T>A	c.(562-564)caT>caA	p.H188Q	DOCK4_ENST00000428084.1_Missense_Mutation_p.H188Q|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTTCTTCCGATGTCGATGTT	0.502																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(562-564)CAT>CAA		dedicator of cytokinesis 4							55.0	56.0	56.0					7																	111617324		1973	4169	6142	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111617324A>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.564T>A	7.37:g.111617324A>T	ENSP00000404179:p.His188Gln					DOCK4_uc003vfy.2_Missense_Mutation_p.H188Q|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.H188Q|DOCK4_uc003vgb.1_Missense_Mutation_p.H112Q	p.H188Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			8	833	-		Acute lymphoblastic leukemia(1;0.0441)	188					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.564T>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.15|11.15	1.553469|1.553469	0.27739|0.27739	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.02737|.	4.18;4.18|.	5.43|5.43	4.07|4.07	0.47477|0.47477	.|.	0.047818|.	0.85682|.	D|.	0.000000|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001|.	B;B;B;B|.	0.06405|.	0.002;0.002;0.002;0.002|.	T|T	0.56378|0.56378	-0.7989|-0.7989	10|5	0.19590|.	T|.	0.45|.	.|.	11.8355|11.8355	0.52321|0.52321	0.9202:0.0:0.0798:0.0|0.9202:0.0:0.0798:0.0	.|.	188;188;188;188|.	A4D0S8;Q149N6;Q149N5;Q8N1I0|.	.;.;.;DOCK4_HUMAN|.	Q|N	176;188;188;176;187|176	ENSP00000410746:H188Q;ENSP00000404179:H188Q|.	ENSP00000345432:H176Q|.	H|I	-|-	3|2	2|0	DOCK4|DOCK4	111404560|111404560	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	1.064000|1.064000	0.30579|0.30579	2.045000|2.045000	0.60652|0.60652	0.460000|0.460000	0.39030|0.39030	CAT|ATC		0.502	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		5	16	0	0	0	0	5	16				
TMEM168	64418	broad.mit.edu	37	7	112407527	112407527	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:112407527C>T	ENST00000312814.6	-	5	2379	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	TMEM168_ENST00000454074.1_Missense_Mutation_p.E607K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	607						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CGTCCCTTTTCAGTCCAGCAG	0.463																																						uc003vgn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1819-1821)GAA>AAA		transmembrane protein 168							137.0	112.0	120.0					7																	112407527		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112407527C>T		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1819G>A	7.37:g.112407527C>T	ENSP00000323068:p.Glu607Lys					TMEM168_uc010lju.2_Missense_Mutation_p.E607K|TMEM168_uc011kmr.1_Missense_Mutation_p.E223K	p.E607K	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			5	2211	-			607					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1819G>A	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262658	0.80358	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.71	5.71	0.89125	.	0.045993	0.85682	D	0.000000	T	0.74313	0.3700	L	0.44542	1.39	0.80722	D	1	D	0.67145	0.996	D	0.75484	0.986	T	0.71391	-0.4607	9	0.39692	T	0.17	-13.1085	19.8516	0.96743	0.0:1.0:0.0:0.0	.	607	Q9H0V1	TM168_HUMAN	K	607;607;223;168	.	ENSP00000323068:E607K	E	-	1	0	TMEM168	112194763	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.771000	0.85420	2.685000	0.91497	0.585000	0.79938	GAA		0.463	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		8	58	0	0	0	0	8	58				
TRPV5	56302	broad.mit.edu	37	7	142606703	142606703	+	Silent	SNP	G	G	A	rs368151896	byFrequency	TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:142606703G>A	ENST00000265310.1	-	14	2196	c.1848C>T	c.(1846-1848)tcC>tcT	p.S616S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	616					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACAGATCCCGGAGCGAGGCC	0.597													G|||	7	0.00139776	0.0	0.0	5008	,	,		20437	0.0		0.0	False		,,,				2504	0.0072					uc003wby.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1846-1848)TCC>TCT		transient receptor potential cation channel,							79.0	70.0	73.0					7																	142606703		2203	4300	6503	SO:0001819	synonymous_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142606703G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1848C>T	7.37:g.142606703G>A							p.S616S	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			14	2112	-	Melanoma(164;0.059)		616			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	c.1848C>T	CCDS5875.1																																																																																				0.597	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		10	64	0	0	0	0	10	64				
ZNF862	643641	broad.mit.edu	37	7	149557670	149557670	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr7:149557670C>A	ENST00000223210.4	+	7	1666	c.1421C>A	c.(1420-1422)cCa>cAa	p.P474Q	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GGGCAGTTCCCATGGTTAGTA	0.473																																						uc010lpn.2		NA																	0				skin(1)	1						c.(1420-1422)CCA>CAA		zinc finger protein 862							123.0	131.0	128.0					7																	149557670		1972	4151	6123	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149557670C>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1421C>A	7.37:g.149557670C>A	ENSP00000223210:p.Pro474Gln					ZNF862_uc003wgm.2_RNA	p.P474Q	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			7	1613	+			474			TTF-type 2.		A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1421C>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913205	0.52439	.	.	ENSG00000106479	ENST00000223210	T	0.01106	5.33	5.19	5.19	0.71726	Zinc finger, TTF-type (1);	0.128518	0.36167	N	0.002751	T	0.03915	0.0110	M	0.73962	2.25	0.30109	N	0.806741	D	0.57899	0.981	P	0.52758	0.708	T	0.22556	-1.0213	10	0.29301	T	0.29	-19.7112	14.2328	0.65906	0.0:1.0:0.0:0.0	.	474	O60290	ZN862_HUMAN	Q	474	ENSP00000223210:P474Q	ENSP00000223210:P474Q	P	+	2	0	ZNF862	149188603	0.949000	0.32298	0.987000	0.45799	0.924000	0.55760	3.097000	0.50251	2.431000	0.82371	0.655000	0.94253	CCA		0.473	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		30	145	1	0	7.01e-11	2.17e-10	30	145				
SNX16	64089	broad.mit.edu	37	8	82752108	82752108	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr8:82752108A>T	ENST00000345957.4	-	2	392	c.114T>A	c.(112-114)aaT>aaA	p.N38K	SNX16_ENST00000396330.2_Missense_Mutation_p.N38K|SNX16_ENST00000353788.4_Missense_Mutation_p.N38K	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	38					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						CCTTAGAAGAATTTGAGCTTG	0.393																																						uc011lft.1		NA																	0				ovary(1)|pancreas(1)	2						c.(112-114)AAT>AAA		sorting nexin 16 isoform a							119.0	127.0	124.0					8																	82752108		2203	4300	6503	SO:0001583	missense	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82752108A>T	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.114T>A	8.37:g.82752108A>T	ENSP00000322652:p.Asn38Lys					SNX16_uc003ycn.2_Missense_Mutation_p.N38K|SNX16_uc003yco.2_Missense_Mutation_p.N38K	p.N38K	NM_022133	NP_071416	P57768	SNX16_HUMAN			3	621	-			38					A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	ENST00000345957.4	37	c.114T>A	CCDS6234.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734526	0.69189	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957;ENST00000520618;ENST00000523757;ENST00000521810;ENST00000519119;ENST00000519817;ENST00000518183	T;T;T;T;T;T;T	0.45668	1.36;1.36;1.36;1.36;0.93;1.36;0.89	5.5	2.28	0.28536	.	0.573522	0.19541	N	0.111799	T	0.30727	0.0774	L	0.60455	1.87	0.28165	N	0.928815	P;P	0.41041	0.736;0.611	B;B	0.30646	0.118;0.118	T	0.16808	-1.0390	10	0.16420	T	0.52	-7.9686	11.0693	0.47993	0.3014:0.0:0.6986:0.0	.	38;38	Q658L0;P57768	.;SNX16_HUMAN	K	38	ENSP00000322631:N38K;ENSP00000379621:N38K;ENSP00000322652:N38K;ENSP00000428699:N38K;ENSP00000430038:N38K;ENSP00000428734:N38K;ENSP00000427876:N38K	ENSP00000322652:N38K	N	-	3	2	SNX16	82914663	0.994000	0.37717	0.996000	0.52242	0.958000	0.62258	0.166000	0.16583	0.316000	0.23135	-0.215000	0.12644	AAT		0.393	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	NM_022133		37	64	0	0	0	0	37	64				
SLC52A2	79581	broad.mit.edu	37	8	145584478	145584478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr8:145584478C>G	ENST00000532887.1	+	5	1724	c.1141C>G	c.(1141-1143)Ctg>Gtg	p.L381V	SLC52A2_ENST00000530047.1_Missense_Mutation_p.L381V|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000526752.1_Missense_Mutation_p.A49G|SLC52A2_ENST00000329994.2_Missense_Mutation_p.L381V|SLC52A2_ENST00000527078.1_Missense_Mutation_p.L381V|SLC52A2_ENST00000402965.1_Missense_Mutation_p.L381V|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L293V			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	381					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GTCGTGGGTGCTGTGTCTTGG	0.677																																						uc003zcc.1		NA																	0					0						c.(1141-1143)CTG>GTG		G protein-coupled receptor 172A precursor							109.0	83.0	92.0					8																	145584478		2203	4300	6503	SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145584478C>G	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1141C>G	8.37:g.145584478C>G	ENSP00000436768:p.Leu381Val					FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.L381V|GPR172A_uc003zce.1_Missense_Mutation_p.L381V|GPR172A_uc010mfy.1_Missense_Mutation_p.L381V|GPR172A_uc003zcf.1_Missense_Mutation_p.L381V|GPR172A_uc011llc.1_Missense_Mutation_p.L293V	p.L381V	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		5	1298	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		381			Helical; (Potential).		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	ENST00000532887.1	37	c.1141C>G	CCDS6423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.16|13.16	2.154527|2.154527	0.38021|0.38021	.|.	.|.	ENSG00000185803|ENSG00000185803	ENST00000526752|ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	D|T;T;T;T;T;T	0.89617|0.76186	-2.54|-1.0;-1.0;-1.0;-1.0;-1.0;-0.78	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.477150	.|0.19741	.|N	.|0.107103	T|T	0.70780|0.70780	0.3263|0.3263	L|L	0.43701|0.43701	1.375|1.375	0.51012|0.51012	D|D	0.999908|0.999908	.|B	.|0.28998	.|0.23	.|B	.|0.33690	.|0.168	T|T	0.68522|0.68522	-0.5386|-0.5386	7|10	0.21540|0.40728	T|T	0.41|0.16	.|.	16.4138|16.4138	0.83727|0.83727	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|381	.|Q9HAB3	.|RFT3_HUMAN	G|V	49|381;381;381;381;381;293	ENSP00000433796:A49G|ENSP00000435820:L381V;ENSP00000434728:L381V;ENSP00000385961:L381V;ENSP00000436768:L381V;ENSP00000333638:L381V;ENSP00000440400:L293V	ENSP00000433796:A49G|ENSP00000333638:L381V	A|L	+|+	2|1	0|2	GPR172A|GPR172A	145555286|145555286	0.110000|0.110000	0.22057|0.22057	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	0.463000|0.463000	0.21972|0.21972	2.480000|2.480000	0.83734|0.83734	0.456000|0.456000	0.33151|0.33151	GCT|CTG		0.677	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		18	76	0	0	0	0	18	76				
MPDZ	8777	broad.mit.edu	37	9	13107074	13107074	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:13107074C>T	ENST00000319217.7	-	47	6350	c.6103G>A	c.(6103-6105)Gat>Aat	p.D2035N	MPDZ_ENST00000546205.1_Missense_Mutation_p.D2049N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D1973N|MPDZ_ENST00000541093.1_Missense_Mutation_p.D269N|MPDZ_ENST00000381022.2_Missense_Mutation_p.D2006N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D2006N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D2002N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D2035N|MPDZ_ENST00000538841.1_Missense_Mutation_p.D894N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2035	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATGATCTGATCGCCCCTTTTC	0.448																																						uc010mhy.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(6016-6018)GAT>AAT		multiple PDZ domain protein							190.0	184.0	186.0					9																	13107074		1968	4150	6118	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13107074C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.6103G>A	9.37:g.13107074C>T	ENSP00000320006:p.Asp2035Asn					MPDZ_uc003zkx.3_Missense_Mutation_p.D230N|MPDZ_uc003zky.3_Missense_Mutation_p.D569N|MPDZ_uc010mib.2_Missense_Mutation_p.D740N|MPDZ_uc010mhx.2_Missense_Mutation_p.D857N|MPDZ_uc011lmm.1_Missense_Mutation_p.D894N|MPDZ_uc003zkz.3_Missense_Mutation_p.D728N|MPDZ_uc010mhz.2_Missense_Mutation_p.D2002N|MPDZ_uc011lmn.1_Missense_Mutation_p.D1973N|MPDZ_uc003zlb.3_Missense_Mutation_p.D2006N	p.D2006N	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	45	6067	-			2035			PDZ 13.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.6016G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.195195	0.94960	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.52	5.52	0.82312	PDZ/DHR/GLGF (4);	0.000000	0.43416	D	0.000564	D	0.92221	0.7533	H	0.98388	4.22	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.999;0.999;1.0;1.0	D	0.94982	0.8126	10	0.87932	D	0	.	19.0483	0.93030	0.0:1.0:0.0:0.0	.	1973;894;740;2002;1915;2006;2035;728	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	N	2035;2006;2006;576;269;971;894;1973;2002;2035;1915;2049	ENSP00000320006:D2035N;ENSP00000439807:D2006N;ENSP00000370410:D2006N;ENSP00000415964:D576N;ENSP00000445259:D269N;ENSP00000444230:D971N;ENSP00000444717:D894N;ENSP00000444151:D1973N;ENSP00000415208:D2002N;ENSP00000370403:D2035N;ENSP00000446358:D2049N	ENSP00000320006:D2035N	D	-	1	0	MPDZ	13097074	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.463000	0.80869	2.606000	0.88127	0.563000	0.77884	GAT		0.448	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		63	89	0	0	0	0	63	89				
GBA2	57704	broad.mit.edu	37	9	35741826	35741826	+	Missense_Mutation	SNP	C	C	T	rs200824511		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:35741826C>T	ENST00000378103.3	-	4	1152	c.629G>A	c.(628-630)cGc>cAc	p.R210H	GBA2_ENST00000378094.4_Missense_Mutation_p.R210H|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.R216H	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	210					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACTTGGGCGCTCCAGGGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19257	0.001		0.0	False		,,,				2504	0.0					uc003zxw.2		NA																	0				ovary(3)|skin(1)	4						c.(628-630)CGC>CAC		bile acid beta-glucosidase							91.0	84.0	86.0					9																	35741826		2203	4300	6503	SO:0001583	missense	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35741826C>T	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.629G>A	9.37:g.35741826C>T	ENSP00000367343:p.Arg210His					GBA2_uc011lpb.1_Missense_Mutation_p.R210H|GBA2_uc011lpc.1_Missense_Mutation_p.R210H|GBA2_uc011lpd.1_Missense_Mutation_p.R216H|GBA2_uc003zxy.1_5'UTR	p.R210H	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		4	1153	-	all_epithelial(49;0.167)		210			Extracellular (Potential).		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	c.629G>A	CCDS6589.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.05	2.718047	0.48622	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.68	2.8	0.32819	Beta-glucosidase, GBA2 type, N-terminal (1);	0.245141	0.41938	N	0.000786	T	0.37237	0.0996	L	0.31578	0.945	0.44976	D	0.997994	B;B;B	0.13594	0.003;0.008;0.004	B;B;B	0.08055	0.002;0.003;0.003	T	0.08229	-1.0732	9	0.12766	T	0.61	-1.0929	6.1376	0.20241	0.1295:0.6082:0.0:0.2624	.	216;210;210	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	H	210;210;216	.	ENSP00000367334:R210H	R	-	2	0	GBA2	35731826	0.181000	0.23161	0.986000	0.45419	0.973000	0.67179	0.752000	0.26362	0.311000	0.23014	0.563000	0.77884	CGC		0.587	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		15	66	0	0	0	0	15	66				
GOLM1	51280	broad.mit.edu	37	9	88650342	88650342	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:88650342T>A	ENST00000388712.3	-	8	1124	c.956A>T	c.(955-957)gAg>gTg	p.E319V	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Missense_Mutation_p.E319V	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	319					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGGTCTCGCTCAGGGCCCTC	0.647											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004aol.2		NA																	0					0						c.(955-957)GAG>GTG		golgi membrane protein 1							83.0	92.0	89.0					9																	88650342		2203	4300	6503	SO:0001583	missense	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88650342T>A	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.956A>T	9.37:g.88650342T>A	ENSP00000373364:p.Glu319Val		OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1261	GOLM1_uc004aom.2_Missense_Mutation_p.E319V	p.E319V	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN			8	1154	-			319			Lumenal (Potential).		Q6IAF4|Q9NRB9	Missense_Mutation	SNP	ENST00000388712.3	37	c.956A>T	CCDS35054.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607115	0.46527	.	.	ENSG00000135052	ENST00000388712;ENST00000388711	T;T	0.56275	0.47;0.47	4.54	3.38	0.38709	.	0.437349	0.25613	N	0.029478	T	0.51924	0.1703	L	0.53249	1.67	0.46222	D	0.998934	P	0.49635	0.926	P	0.48654	0.585	T	0.52616	-0.8552	10	0.62326	D	0.03	2.1405	8.2945	0.31978	0.0:0.0:0.2012:0.7988	.	319	Q8NBJ4	GOLM1_HUMAN	V	319	ENSP00000373364:E319V;ENSP00000373363:E319V	ENSP00000373363:E319V	E	-	2	0	GOLM1	87840162	0.994000	0.37717	0.981000	0.43875	0.194000	0.23727	1.206000	0.32321	0.871000	0.35750	0.379000	0.24179	GAG		0.647	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		20	110	0	0	0	0	20	110				
GRIN3A	116443	broad.mit.edu	37	9	104499644	104499644	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:104499644C>G	ENST00000361820.3	-	1	1218	c.618G>C	c.(616-618)atG>atC	p.M206I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	206					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CGAGCTCCATCATTTCGCCCT	0.602																																						uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(616-618)ATG>ATC		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						81.0	75.0	77.0					9																	104499644		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499644C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.618G>C	9.37:g.104499644C>G	ENSP00000355155:p.Met206Ile					GRIN3A_uc004bbq.1_Missense_Mutation_p.M206I	p.M206I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			1	1219	-		Acute lymphoblastic leukemia(62;0.0568)	206			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.618G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909671	0.33721	.	.	ENSG00000198785	ENST00000361820	D	0.85702	-2.02	5.54	5.54	0.83059	.	0.201821	0.51477	D	0.000094	T	0.81569	0.4850	L	0.51422	1.61	0.48452	D	0.999659	B	0.29612	0.251	B	0.24541	0.054	T	0.77435	-0.2589	10	0.18276	T	0.48	.	19.4915	0.95052	0.0:1.0:0.0:0.0	.	206	Q8TCU5	NMD3A_HUMAN	I	206	ENSP00000355155:M206I	ENSP00000355155:M206I	M	-	3	0	GRIN3A	103539465	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.190000	0.42630	2.596000	0.87737	0.655000	0.94253	ATG		0.602	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			36	22	0	0	0	0	36	22				
FAM102A	399665	broad.mit.edu	37	9	130712747	130712747	+	Silent	SNP	C	C	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:130712747C>T	ENST00000373095.1	-	4	744	c.369G>A	c.(367-369)gaG>gaA	p.E123E	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	123										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TGTCATATCCCTCGAGCAGGC	0.622																																						uc004bsx.1		NA																	0				ovary(1)	1						c.(367-369)GAG>GAA		early estrogen-induced gene 1 protein isoform a							161.0	122.0	135.0					9																	130712747		2203	4300	6503	SO:0001819	synonymous_variant	399665							g.chr9:130712747C>T		CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.369G>A	9.37:g.130712747C>T						FAM102A_uc004bsw.1_5'UTR|FAM102A_uc004bsy.1_5'Flank	p.E123E	NM_001035254	NP_001030331	Q5T9C2	F102A_HUMAN			4	448	-			123					A2A329|Q8TEL4	Silent	SNP	ENST00000373095.1	37	c.369G>A	CCDS35150.1																																																																																				0.622	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054298.2			10	91	0	0	0	0	10	91				
NOTCH1	4851	broad.mit.edu	37	9	139402771	139402771	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr9:139402771G>A	ENST00000277541.6	-	20	3313	c.3238C>T	c.(3238-3240)Cag>Tag	p.Q1080*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1080	EGF-like 28. {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)		CAGCGGTACTGGGTGTGGGTC	0.652			"""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.(3238-3240)CAG>TAG		notch1 preproprotein							77.0	96.0	90.0					9																	139402771		2118	4213	6331	SO:0001587	stop_gained	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.chr9:139402771G>A	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.3238C>T	9.37:g.139402771G>A	ENSP00000277541:p.Gln1080*	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Nonsense_Mutation_p.Q310*	p.Q1080*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3238	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1080			Extracellular (Potential).|EGF-like 28.		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.3238C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	39	7.804772	0.98498	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.23	-0.108	0.13588	.	0.858301	0.10177	N	0.706393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.442	0.21854	0.2116:0.3582:0.4302:0.0	.	.	.	.	X	1080	.	ENSP00000277541:Q1080X	Q	-	1	0	NOTCH1	138522592	0.042000	0.20092	0.000000	0.03702	0.710000	0.40934	1.417000	0.34770	-0.305000	0.08831	-0.140000	0.14226	CAG		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		68	64	0	0	0	0	68	64				
TLR8	51311	broad.mit.edu	37	X	12938009	12938009	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:12938009C>G	ENST00000218032.6	+	2	937	c.850C>G	c.(850-852)Caa>Gaa	p.Q284E	TLR8_ENST00000311912.5_Missense_Mutation_p.Q302E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	284					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TTTTGCTTTTCAAAACTTGAC	0.438																																						uc004cve.2		NA																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(850-852)CAA>GAA		toll-like receptor 8 precursor							109.0	90.0	97.0					X																	12938009		2203	4299	6502	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938009C>G	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.850C>G	X.37:g.12938009C>G	ENSP00000218032:p.Gln284Glu					TLR8_uc004cvd.2_Missense_Mutation_p.Q302E	p.Q284E	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	918	+			284			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.850C>G	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	C	9.209	1.030325	0.19512	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.56103	0.48;0.48	5.03	4.15	0.48705	.	0.000000	0.39146	N	0.001442	T	0.41073	0.1143	N	0.13168	0.305	0.26893	N	0.967286	P;P	0.44309	0.832;0.832	P;P	0.48368	0.575;0.575	T	0.21143	-1.0254	10	0.38643	T	0.18	.	9.3704	0.38250	0.0:0.5526:0.3665:0.0809	.	284;302	Q9NR97;D1CS70	TLR8_HUMAN;.	E	284;302	ENSP00000218032:Q284E;ENSP00000312082:Q302E	ENSP00000218032:Q284E	Q	+	1	0	TLR8	12847930	0.022000	0.18835	0.346000	0.25655	0.264000	0.26372	0.048000	0.14078	1.012000	0.39366	0.523000	0.50628	CAA		0.438	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		14	19	0	0	0	0	14	19				
PPEF1	5475	broad.mit.edu	37	X	18748392	18748392	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:18748392C>G	ENST00000361511.4	+	5	634	c.140C>G	c.(139-141)tCc>tGc	p.S47C	PPEF1_ENST00000543630.1_Missense_Mutation_p.S47C|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.S47C|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000349874.5_Missense_Mutation_p.S47C	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	47					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATCTTCCAGTCCATCGAATAT	0.443																																						uc004cyq.2		NA																	0					0						c.(139-141)TCC>TGC		protein phosphatase with EF hand calcium-binding							255.0	188.0	211.0					X																	18748392		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18748392C>G	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.140C>G	X.37:g.18748392C>G	ENSP00000354871:p.Ser47Cys					PPEF1_uc004cyp.2_Missense_Mutation_p.S47C|PPEF1_uc004cyr.2_Missense_Mutation_p.S47C|PPEF1_uc004cys.2_Missense_Mutation_p.S47C|PPEF1_uc011mja.1_Intron|PPEF1_uc011mjb.1_5'UTR	p.S47C	NM_006240	NP_006231	O14829	PPE1_HUMAN			5	621	+	Hepatocellular(33;0.183)		47					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.140C>G	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.235865	0.39498	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000543630	T;T;T;T	0.26518	3.07;2.76;2.93;1.73	5.85	4.03	0.46877	.	0.264189	0.27682	N	0.018283	T	0.48660	0.1512	M	0.79123	2.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.73380	0.98;0.959;0.939	T	0.51379	-0.8713	10	0.87932	D	0	-15.4985	10.0517	0.42219	0.0:0.7876:0.1341:0.0782	.	47;47;47	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	C	47	ENSP00000354871:S47C;ENSP00000352806:S47C;ENSP00000341892:S47C;ENSP00000437785:S47C	ENSP00000341892:S47C	S	+	2	0	PPEF1	18658313	0.994000	0.37717	0.940000	0.37924	0.002000	0.02628	3.110000	0.50352	1.231000	0.43661	-0.199000	0.12753	TCC		0.443	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		18	28	0	0	0	0	18	28				
WNK3	65267	broad.mit.edu	37	X	54259359	54259359	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chrX:54259359G>T	ENST00000375159.2	-	20	4722	c.4723C>A	c.(4723-4725)Caa>Aaa	p.Q1575K	WNK3_ENST00000375169.3_Missense_Mutation_p.Q1528K|WNK3_ENST00000354646.2_Missense_Mutation_p.Q1575K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1575					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)	p.Q1575*(1)		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						TCAGTAGATTGGGTTTTGCTA	0.468																																						uc004dtd.1		NA																	1	Substitution - Nonsense(1)	p.Q1575*(1)	ovary(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(4582-4584)CAA>AAA		WNK lysine deficient protein kinase 3 isoform 2							160.0	143.0	149.0					X																	54259359		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:54259359G>T	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.4723C>A	X.37:g.54259359G>T	ENSP00000364301:p.Gln1575Lys					WNK3_uc004dtc.1_Missense_Mutation_p.Q1575K	p.Q1528K	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			21	5021	-			1528					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.4582C>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004431	0.19199	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.69435	-0.39;-0.4;-0.4	5.69	1.64	0.23874	.	0.261727	0.26170	N	0.025932	T	0.52403	0.1732	L	0.36672	1.1	0.09310	N	0.999999	B;B	0.27068	0.167;0.104	B;B	0.27380	0.079;0.036	T	0.36040	-0.9764	10	0.25751	T	0.34	-1.5687	10.7298	0.46089	0.0865:0.4861:0.4275:0.0	.	1528;1575	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1528;1575;1575	ENSP00000364312:Q1528K;ENSP00000346667:Q1575K;ENSP00000364301:Q1575K	ENSP00000346667:Q1575K	Q	-	1	0	WNK3	54276084	0.141000	0.22595	0.001000	0.08648	0.641000	0.38312	1.507000	0.35758	0.164000	0.19529	0.594000	0.82650	CAA		0.468	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		18	28	1	0	8.1e-08	2.45e-07	18	28				
FLAD1	80308	broad.mit.edu	37	1	154962050	154962050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:154962050delA	ENST00000292180.3	+	3	1454	c.1132delA	c.(1132-1134)aaafs	p.K379fs	FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000315144.10_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368432.1_Frame_Shift_Del_p.K282fs|FLAD1_ENST00000368433.1_Frame_Shift_Del_p.K379fs	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	379					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.K378E(3)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTCTTTGGGGAAAAAGGTGGC	0.567																																						uc001fgf.1		NA																	3	Substitution - Missense(3)		large_intestine(1)|lung(1)|endometrium(1)	ovary(2)|skin(1)	3						c.(1132-1134)AAAfs		flavin adenine dinucleotide synthetase isoform							92.0	91.0	92.0					1																	154962050		2203	4300	6503	SO:0001589	frameshift_variant	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154962050delA		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.1132delA	1.37:g.154962050delA	ENSP00000292180:p.Lys379fs					FLAD1_uc001fgd.1_Frame_Shift_Del_p.K378fs|FLAD1_uc001fge.1_Frame_Shift_Del_p.K281fs|FLAD1_uc001fgg.1_Frame_Shift_Del_p.K281fs|FLAD1_uc001fgh.1_Intron	p.K378fs	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1486	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		378					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Frame_Shift_Del	DEL	ENST00000292180.3	37	c.1132delA	CCDS1078.1																																																																																				0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		7	167	NA	NA	NA	NA	7	167	---	---	---	---
MR1	3140	broad.mit.edu	37	1	181021478	181021478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr1:181021478delA	ENST00000367580.5	+	4	717	c.712delA	c.(712-714)aaafs	p.K238fs	MR1_ENST00000367579.3_Frame_Shift_Del_p.K193fs|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GACATGGATGAAAAACGGGGA	0.443																																					Colon(174;1412 1962 45296 46549 47110)	uc001goq.1		NA																	0				skin(1)	1						c.(712-714)AAAfs		major histocompatibility complex, class							62.0	64.0	63.0					1																	181021478		2203	4300	6503	SO:0001589	frameshift_variant	3140				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr1:181021478delA	AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.712delA	1.37:g.181021478delA	ENSP00000356552:p.Lys238fs					MR1_uc001gor.1_Frame_Shift_Del_p.K193fs|MR1_uc001gos.1_Intron|MR1_uc010pns.1_Intron	p.K238fs	NM_001531	NP_001522	Q95460	HMR1_HUMAN			4	717	+			238			Extracellular (Potential).|Alpha-3.|Ig-like C1-type.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Frame_Shift_Del	DEL	ENST00000367580.5	37	c.712delA	CCDS1342.1																																																																																				0.443	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531		8	60	NA	NA	NA	NA	8	60	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117266774	117266780	+	Frame_Shift_Del	DEL	CTGGAGG	CTGGAGG	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr11:117266774_117266780delCTGGAGG	ENST00000278935.3	+	25	3241_3247	c.3094_3100delCTGGAGG	c.(3094-3102)ctggaggctfs	p.LEA1032fs	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1032					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCACAGCAGCCTGGAGGCTGAAGCTCA	0.546																																						uc001prc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3094-3102)CTGGAGGCTfs		centrosomal protein 164kDa																																				SO:0001589	frameshift_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117266774_117266780delCTGGAGG	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3094_3100delCTGGAGG	11.37:g.117266774_117266780delCTGGAGG	ENSP00000278935:p.Leu1032fs					CEP164_uc001prb.2_Frame_Shift_Del_p.L1035fs|CEP164_uc010rxk.1_Frame_Shift_Del_p.L1006fs|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Frame_Shift_Del_p.L465fs	p.L1032fs	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	25	3241_3247	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1032_1034					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Frame_Shift_Del	DEL	ENST00000278935.3	37	c.3094_3100delCTGGAGG	CCDS31683.1																																																																																				0.546	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		17	75	NA	NA	NA	NA	17	75	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39742774	39742785	+	In_Frame_Del	DEL	CAAAGCCACCAC	CAAAGCCACCAC	-	rs536296269|rs57278315|rs371274993		TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr17:39742774_39742785delCAAAGCCACCAC	ENST00000167586.6	-	1	388_399	c.302_313delGTGGTGGCTTTG	c.(301-315)ggtggtggctttgct>gct	p.GGGF101del		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	101	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				tcaccaccagcaaagccaccaccaaagccacc	0.604																																						uc002hxf.1		NA																	0				ovary(1)	1						c.(301-315)GGTGGTGGCTTTGCT>GCT		keratin 14																																				SO:0001651	inframe_deletion	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742774_39742785delCAAAGCCACCAC	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.302_313delGTGGTGGCTTTG	17.37:g.39742774_39742785delCAAAGCCACCAC	ENSP00000167586:p.Gly101_Phe104del					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_In_Frame_Del_p.GGGF101del	p.GGGF101del	NM_000526	NP_000517	P02533	K1C14_HUMAN			1	363_374	-		Breast(137;0.000307)	101_104			Head.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	In_Frame_Del	DEL	ENST00000167586.6	37	c.302_313delGTGGTGGCTTTG	CCDS11400.1																																																																																				0.604	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		12	91	NA	NA	NA	NA	12	91	---	---	---	---
ATP11B	23200	broad.mit.edu	37	3	182575744	182575745	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr3:182575744_182575745insT	ENST00000323116.5	+	11	1190_1191	c.930_931insT	c.(931-933)tggfs	p.W311fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	311					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGAAGTATACATGGCAAGCTGA	0.312																																						uc003flb.2		NA																	0				ovary(2)|pancreas(1)	3						c.(928-933)ACATGGfs		ATPase, class VI, type 11B																																				SO:0001589	frameshift_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182575744_182575745insT	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.931dupT	3.37:g.182575745_182575745dupT	ENSP00000321195:p.Trp311fs						p.T310fs	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		11	1187_1188	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		310_311			Helical; (Potential).		Q96FN1|Q9UKK7	Frame_Shift_Ins	INS	ENST00000323116.5	37	c.930_931insT	CCDS33896.1																																																																																				0.312	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		23	79	NA	NA	NA	NA	23	79	---	---	---	---
DST	667	broad.mit.edu	37	6	56426298	56426313	+	Frame_Shift_Del	DEL	TTCATAACCATGACTT	TTCATAACCATGACTT	-			TCGA-CR-7390-01A-11D-2012-08	TCGA-CR-7390-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	714399af-e425-43bb-a82a-b62ca6fd735d	896b3fbe-2eea-4dd2-b606-29094614f47c	g.chr6:56426298_56426313delTTCATAACCATGACTT	ENST00000361203.3	-	53	13477_13492	c.13470_13485delAAGTCATGGTTATGAA	c.(13468-13485)ataagtcatggttatgaafs	p.ISHGYE4490fs	DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Frame_Shift_Del_p.ISHGYE2404fs|DST_ENST00000446842.2_Frame_Shift_Del_p.ISHGYE4166fs|DST_ENST00000370769.4_Frame_Shift_Del_p.ISHGYE4492fs|DST_ENST00000370754.5_Frame_Shift_Del_p.ISHGYE4670fs|DST_ENST00000244364.6_Frame_Shift_Del_p.ISHGYE2078fs|DST_ENST00000421834.2_Frame_Shift_Del_p.ISHGYE2404fs			Q03001	DYST_HUMAN	dystonin	4490					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCCAAGATCTTCATAACCATGACTTATGTCAGTCA	0.384																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(7744-7761)ATAAGTCATGGTTATGAAfs		dystonin isoform 2																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56426298_56426313delTTCATAACCATGACTT	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13470_13485delAAGTCATGGTTATGAA	6.37:g.56426298_56426313delTTCATAACCATGACTT	ENSP00000354508:p.Ile4490fs					DST_uc003pcz.3_Frame_Shift_Del_p.I2404fs|DST_uc011dxj.1_Frame_Shift_Del_p.I2433fs|DST_uc011dxk.1_Frame_Shift_Del_p.I2444fs|DST_uc003pcy.3_Frame_Shift_Del_p.I2078fs	p.I2582fs	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		51	7774_7789	-	Lung NSC(77;0.103)		4490_4495					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.7746_7761delAAGTCATGGTTATGAA																																																																																					0.384	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		10	90	NA	NA	NA	NA	10	90	---	---	---	---
