#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
TAS1R3	83756	broad.mit.edu	37	1	1268732	1268732	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:1268732G>A	ENST00000339381.5	+	5	1605	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	525					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.E525K(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		TGTGGACTGCGAGGCGGGCAG	0.692																																						uc010nyk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1573-1575)GAG>AAG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						23.0	25.0	25.0					1																	1268732		2194	4293	6487	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268732G>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1573G>A	1.37:g.1268732G>A	ENSP00000344411:p.Glu525Lys						p.E525K	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	5	1573	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	525			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1573G>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.506439	0.00992	.	.	ENSG00000169962	ENST00000339381	D	0.89343	-2.5	4.42	0.324	0.15898	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.529823	0.19216	N	0.119815	T	0.67126	0.2860	N	0.04043	-0.29	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.53373	-0.8448	10	0.14252	T	0.57	.	1.4763	0.02427	0.4321:0.2338:0.2192:0.1149	.	525	Q7RTX0	TS1R3_HUMAN	K	525	ENSP00000344411:E525K	ENSP00000344411:E525K	E	+	1	0	TAS1R3	1258595	0.000000	0.05858	0.996000	0.52242	0.105000	0.19272	-0.169000	0.09911	0.109000	0.17891	-1.914000	0.00519	GAG		0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1				7	21	0	0	0	0.001984	0	7	21		
PRDM16	63976	broad.mit.edu	37	1	3102752	3102752	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:3102752C>A	ENST00000270722.5	+	2	150	c.101C>A	c.(100-102)gCg>gAg	p.A34E	PRDM16_ENST00000378391.2_Missense_Mutation_p.A34E|PRDM16_ENST00000378398.3_Missense_Mutation_p.A34E|PRDM16_ENST00000442529.2_Missense_Mutation_p.A34E|PRDM16_ENST00000511072.1_Missense_Mutation_p.A34E|PRDM16_ENST00000514189.1_Missense_Mutation_p.A34E|PRDM16_ENST00000441472.2_Missense_Mutation_p.A34E			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	34					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)	p.A34V(1)		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)		AGCCACAGCGCGGAGGACGAG	0.642			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NaN		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - Missense(1)		prostate(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(100-102)GCG>GAG		PR domain containing 16 isoform 1							46.0	60.0	55.0					1																	3102752		2171	4248	6419	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.chr1:3102752C>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.101C>A	1.37:g.3102752C>A	ENSP00000270722:p.Ala34Glu					PRDM16_uc001akc.2_Missense_Mutation_p.A34E|PRDM16_uc001akd.2_Missense_Mutation_p.A34E|PRDM16_uc001ake.2_Missense_Mutation_p.A34E|PRDM16_uc009vlh.2_5'UTR	p.A34E	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)	2	181	+	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)	34					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.101C>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517674	0.44763	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.1	3.22	0.36961	.	0.000000	0.44097	U	0.000493	T	0.46425	0.1392	L	0.47716	1.5	0.38770	D	0.954529	D;D;D;P	0.89917	0.975;0.974;1.0;0.956	P;P;D;P	0.87578	0.652;0.811;0.998;0.652	T	0.47661	-0.9100	10	0.72032	D	0.01	.	11.8719	0.52525	0.0:0.8553:0.0:0.1447	.	34;34;34;34	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	E	34	ENSP00000426975:A34E;ENSP00000367651:A34E;ENSP00000407968:A34E;ENSP00000405253:A34E;ENSP00000367643:A34E;ENSP00000421400:A34E;ENSP00000270722:A34E	ENSP00000270722:A34E	A	+	2	0	PRDM16	3092612	0.999000	0.42202	0.041000	0.18516	0.026000	0.11368	4.158000	0.58150	0.544000	0.28883	-0.254000	0.11334	GCG		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3		NM_022114		17	111	1	0	1.33834e-09	0.007413	1.79893e-09	17	111		
C1orf127	148345	broad.mit.edu	37	1	11007721	11007721	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:11007721C>T	ENST00000377008.4	-	11	2416	c.1970G>A	c.(1969-1971)tGa>tAa	p.*657*	C1orf127_ENST00000377004.4_Silent_p.*824*			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	0										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CATGGAGGCTCAGCGTGAGGG	0.637																																						uc010oao.1		NaN																	0				ovary(1)	1						c.(2023-2025)TGA>TAA		hypothetical protein LOC148345							13.0	12.0	13.0					1																	11007721		2199	4292	6491	SO:0001819	synonymous_variant	148345							g.chr1:11007721C>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1970G>A	1.37:g.11007721C>T						C1orf127_uc001arr.1_Silent_p.*657*|C1orf127_uc001ars.1_Silent_p.*649*	p.*675*	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	8	2029	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	675					A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	37	c.2024G>A																																																																																					0.637	C1orf127-202	KNOWN	basic	protein_coding	protein_coding			NM_173507		4	20	0	0	0	0.009096	0	4	20		
MIIP	60672	broad.mit.edu	37	1	12090089	12090089	+	Missense_Mutation	SNP	A	A	T	rs200414041		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12090089A>T	ENST00000235332.4	+	8	1019	c.850A>T	c.(850-852)Agc>Tgc	p.S284C	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	284										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GCGCAGGGTGAGCATCCCGCT	0.667																																						uc001ato.1		NaN																	0				ovary(1)	1						c.(850-852)AGC>TGC		invasion inhibitory protein 45							33.0	42.0	39.0					1																	12090089		2203	4300	6503	SO:0001583	missense	60672							g.chr1:12090089A>T	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.850A>T	1.37:g.12090089A>T	ENSP00000235332:p.Ser284Cys						p.S284C	NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN			8	1030	+			284					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.850A>T	CCDS143.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375263	0.42105	.	.	ENSG00000116691	ENST00000235332	T	0.33438	1.41	5.15	4.03	0.46877	.	0.249383	0.37483	N	0.002068	T	0.50411	0.1614	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.51052	-0.8754	10	0.87932	D	0	-3.2328	7.6319	0.28245	0.9028:0.0:0.0972:0.0	.	284	Q5JXC2	MIIP_HUMAN	C	284	ENSP00000235332:S284C	ENSP00000235332:S284C	S	+	1	0	MIIP	12012676	1.000000	0.71417	0.888000	0.34837	0.042000	0.13812	2.667000	0.46808	0.813000	0.34350	-0.425000	0.05940	AGC		0.667	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1		NM_021933		19	83	0	0	0	0.007413	0	19	83		
VPS13D	55187	broad.mit.edu	37	1	12429573	12429573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12429573G>T	ENST00000358136.3	+	54	10754	c.10624G>T	c.(10624-10626)Gaa>Taa	p.E3542*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E3517*|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTCCGGACTGAAGTGAAGCC	0.517																																						uc001atv.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(10624-10626)GAA>TAA		vacuolar protein sorting 13D isoform 1							142.0	144.0	143.0					1																	12429573		2203	4300	6503	SO:0001587	stop_gained	55187				protein localization			g.chr1:12429573G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10624G>T	1.37:g.12429573G>T	ENSP00000350854:p.Glu3542*					VPS13D_uc001atw.2_Nonsense_Mutation_p.E3517*|VPS13D_uc001atx.2_Nonsense_Mutation_p.E2729*|VPS13D_uc009vnl.2_RNA	p.E3542*	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	54	10765	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3541						Nonsense_Mutation	SNP	ENST00000358136.3	37	c.10624G>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	53	20.877655	0.99935	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.79	5.79	0.91817	.	0.097195	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.692	0.96007	0.0:0.0:1.0:0.0	.	.	.	.	X	3517;3542	.	ENSP00000348666:E3517X	E	+	1	0	VPS13D	12352160	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.433000	0.97501	2.743000	0.94032	0.650000	0.86243	GAA		0.517	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378		28	181	1	0	1.88708e-17	0.008361	2.62165e-17	28	181		
AADACL3	126767	broad.mit.edu	37	1	12785550	12785550	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:12785550G>A	ENST00000359318.5	+	4	845	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	AADACL3_ENST00000332530.3_Missense_Mutation_p.A144T	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	214							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATGAAAGGTGCCCATTTGCC	0.483																																						uc009vnn.1		NaN																	0					0						c.(640-642)GCC>ACC		arylacetamide deacetylase-like 3 isoform 1							114.0	109.0	111.0					1																	12785550		1853	4104	5957	SO:0001583	missense	126767						hydrolase activity	g.chr1:12785550G>A		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.640G>A	1.37:g.12785550G>A	ENSP00000352268:p.Ala214Thr					AADACL3_uc001aug.1_Missense_Mutation_p.A144T	p.A214T	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	873	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	214					B3KXR9|Q5VUY1	Missense_Mutation	SNP	ENST00000359318.5	37	c.640G>A	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	G	9.204	1.029204	0.19512	.	.	ENSG00000188984	ENST00000332530;ENST00000359318	T;T	0.09911	2.93;2.93	5.35	3.47	0.39725	.	0.769301	0.12776	N	0.440087	T	0.07548	0.0190	L	0.32530	0.975	0.09310	N	1	B;B	0.22146	0.044;0.065	B;B	0.20577	0.027;0.03	T	0.43782	-0.9370	10	0.12766	T	0.61	-7.8638	6.3371	0.21302	0.1659:0.0:0.6782:0.156	.	214;144	Q5VUY0;Q5VUY0-2	ADCL3_HUMAN;.	T	144;214	ENSP00000333352:A144T;ENSP00000352268:A214T	ENSP00000333352:A144T	A	+	1	0	AADACL3	12708137	0.000000	0.05858	0.005000	0.12908	0.020000	0.10135	0.165000	0.16564	0.618000	0.30179	0.484000	0.47621	GCC		0.483	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2		NM_001103170		76	61	0	0	0	0.01441	0	76	61		
Unknown	0	broad.mit.edu	37	1	13183214	13183214	+	IGR	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:13183214G>A								RP13-221M14.3 (18746 upstream) : PRAMEF26 (33141 downstream)																							CTCCTCTTCTGACTTAGCATT	0.458																																						uc010obg.1		NaN																	0					0						c.(658-660)TCA>TTA		heterogeneous nuclear ribonucleoprotein C-like							89.0	70.0	76.0					1																	13183214		691	1590	2281	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183214G>A																													1.37:g.13183214G>A							p.S220L	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	754	-			220						Missense_Mutation	SNP		37	c.659C>T																																																																																				0	0.458										36	120	0	0	0	0.00874	0	36	120		
CELA2B	51032	broad.mit.edu	37	1	15813791	15813791	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:15813791T>A	ENST00000375910.3	+	7	676	c.651T>A	c.(649-651)ggT>ggA	p.G217G		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GAGACTCCGGTGGGCCGCTGA	0.562																																						uc001awl.2		NaN																	0				ovary(1)	1						c.(649-651)GGT>GGA		elastase 2B preproprotein							81.0	81.0	81.0					1																	15813791		2203	4300	6503	SO:0001819	synonymous_variant	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15813791T>A		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.651T>A	1.37:g.15813791T>A							p.G217G	NM_015849	NP_056933	P08218	CEL2B_HUMAN			7	676	+			217			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Silent	SNP	ENST00000375910.3	37	c.651T>A	CCDS30605.1																																																																																				0.562	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1		NM_015849		30	137	0	0	0	0.015359	0	30	137		
PLEKHM2	23207	broad.mit.edu	37	1	16060340	16060340	+	Missense_Mutation	SNP	T	T	G	rs201091991		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:16060340T>G	ENST00000375799.3	+	20	3198	c.2971T>G	c.(2971-2973)Ttc>Gtc	p.F991V	SLC25A34_ENST00000294454.5_5'Flank|PLEKHM2_ENST00000477849.1_3'UTR|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.F971V|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	991					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAAGAAGAAATTCGAGGATGC	0.642																																						uc010obo.1		NaN																	0				ovary(1)	1						c.(2971-2973)TTC>GTC		pleckstrin homology domain containing, family M							72.0	83.0	79.0					1																	16060340		2073	4202	6275	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16060340T>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2971T>G	1.37:g.16060340T>G	ENSP00000364956:p.Phe991Val					SLC25A34_uc001axb.1_5'Flank	p.F991V	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	20	3198	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	991					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2971T>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973392	0.53614	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.41758	1.0;0.99	5.62	5.62	0.85841	.	0.057720	0.64402	D	0.000002	T	0.31136	0.0787	N	0.19112	0.55	0.43930	D	0.996584	B	0.20887	0.049	B	0.19666	0.026	T	0.08207	-1.0733	10	0.51188	T	0.08	-12.3618	14.398	0.67025	0.0:0.0:0.0:1.0	.	991	Q8IWE5	PKHM2_HUMAN	V	991;971	ENSP00000364956:F991V;ENSP00000364950:F971V	ENSP00000364950:F971V	F	+	1	0	PLEKHM2	15932927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.292000	0.78731	2.129000	0.65627	0.533000	0.62120	TTC		0.642	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1		NM_015164		34	130	0	0	0	0.017118	0	34	130		
EPHA2	1969	broad.mit.edu	37	1	16459810	16459810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:16459810C>A	ENST00000358432.5	-	11	2072	c.1918G>T	c.(1918-1920)Gag>Tag	p.E640*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	640	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACCGGCACCTCCTTCTTCCCC	0.627																																						uc001aya.1		NaN																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(1918-1920)GAG>TAG		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						98.0	88.0	92.0					1																	16459810		2203	4300	6503	SO:0001587	stop_gained	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16459810C>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1918G>T	1.37:g.16459810C>A	ENSP00000351209:p.Glu640*						p.E640*	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	11	2055	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	640			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential).		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	ENST00000358432.5	37	c.1918G>T	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	40	8.171196	0.98688	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.55	5.55	0.83447	.	0.111182	0.39834	N	0.001252	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0794	0.89438	0.0:1.0:0.0:0.0	.	.	.	.	X	640	.	ENSP00000351209:E640X	E	-	1	0	EPHA2	16332397	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	7.818000	0.86416	2.635000	0.89317	0.650000	0.86243	GAG		0.627	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431		22	113	1	0	9.86323e-18	0.021523	1.37256e-17	22	113		
ATP13A2	23400	broad.mit.edu	37	1	17314949	17314949	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:17314949C>G	ENST00000326735.8	-	24	2663	c.2630G>C	c.(2629-2631)gGa>gCa	p.G877A	ATP13A2_ENST00000452699.1_Missense_Mutation_p.G872A|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.G833A			Q9NQ11	AT132_HUMAN	ATPase type 13A2	877			G -> R (in KRS; found in two affected brothers also carrying C-481 in FBXO7). {ECO:0000269|PubMed:20853184}.		cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCGCCGTCTCCGCACATGCC	0.617																																						uc001baa.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2629-2631)GGA>GCA		ATPase type 13A2 isoform 1							81.0	79.0	80.0					1																	17314949		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17314949C>G	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2630G>C	1.37:g.17314949C>G	ENSP00000327214:p.Gly877Ala					ATP13A2_uc001azz.1_Missense_Mutation_p.G24A|ATP13A2_uc001bab.2_Missense_Mutation_p.G872A|ATP13A2_uc001bac.2_Missense_Mutation_p.G833A	p.G877A	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	24	2820	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	877			Cytoplasmic (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2630G>C	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669126	0.88348	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	D;D;D;D	0.99953	-2.59;-2.59;-2.59;-8.81	4.37	4.37	0.52481	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99964	0.9986	H	0.98133	4.155	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96219	0.9159	10	0.87932	D	0	-25.8372	14.4403	0.67311	0.0:1.0:0.0:0.0	.	833;872;877	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	A	877;833;872;73	ENSP00000327214:G877A;ENSP00000341115:G833A;ENSP00000413307:G872A;ENSP00000423065:G73A	ENSP00000327214:G877A	G	-	2	0	ATP13A2	17187536	1.000000	0.71417	0.989000	0.46669	0.900000	0.52787	7.204000	0.77872	2.249000	0.74217	0.561000	0.74099	GGA		0.617	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089		32	141	0	0	0	0.015359	0	32	141		
UBR4	23352	broad.mit.edu	37	1	19441311	19441311	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:19441311C>T	ENST00000375254.3	-	75	11223	c.11196G>A	c.(11194-11196)cgG>cgA	p.R3732R	UBR4_ENST00000375267.2_Silent_p.R3732R|UBR4_ENST00000375217.2_Silent_p.R3725R|UBR4_ENST00000375218.3_Silent_p.R147R|UBR4_ENST00000375226.2_Silent_p.R3708R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCACCTTCTTCCGGTCTTCTT	0.522																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(11194-11196)CGG>CGA		retinoblastoma-associated factor 600							128.0	124.0	126.0					1																	19441311		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19441311C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11196G>A	1.37:g.19441311C>T						UBR4_uc001bbj.1_Silent_p.R147R	p.R3732R	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	75	11200	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3732					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.11196G>A	CCDS189.1																																																																																				0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		33	183	0	0	0	0.007835	0	33	183		
TMCO4	255104	broad.mit.edu	37	1	20107215	20107215	+	Missense_Mutation	SNP	G	G	C	rs534456252		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:20107215G>C	ENST00000294543.6	-	4	278	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	TMCO4_ENST00000375127.1_Missense_Mutation_p.Q13E|TMCO4_ENST00000375122.2_Missense_Mutation_p.Q13E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	13						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AGAGGCTGCTGAGGCAGCCTC	0.607																																						uc001bcn.2		NaN																	0					0						c.(37-39)CAG>GAG		transmembrane and coiled-coil domains 4							15.0	18.0	17.0					1																	20107215		2194	4283	6477	SO:0001583	missense	255104					integral to membrane		g.chr1:20107215G>C		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.37C>G	1.37:g.20107215G>C	ENSP00000294543:p.Gln13Glu					TMCO4_uc001bcm.2_Missense_Mutation_p.Q13E|TMCO4_uc001bco.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcp.1_Missense_Mutation_p.Q13E|TMCO4_uc009vpn.1_Missense_Mutation_p.Q13E|TMCO4_uc001bcq.1_Missense_Mutation_p.Q13E	p.Q13E	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	4	279	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	13					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.37C>G	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.435581	0.01108	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.30182	1.54;1.57;1.55	1.05	1.05	0.20165	.	0.590539	0.15276	N	0.270955	T	0.10895	0.0266	N	0.08118	0	0.22541	N	0.999001	B;B	0.27498	0.006;0.18	B;B	0.17433	0.001;0.018	T	0.29579	-1.0007	10	0.10111	T	0.7	.	5.4583	0.16602	0.0:0.0:1.0:0.0	.	13;13	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	E	13	ENSP00000294543:Q13E;ENSP00000364269:Q13E;ENSP00000364264:Q13E	ENSP00000294543:Q13E	Q	-	1	0	TMCO4	19979802	0.280000	0.24249	0.792000	0.32020	0.065000	0.16274	1.092000	0.30927	0.849000	0.35215	0.462000	0.41574	CAG		0.607	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1		NM_181719		6	46	0	0	0	0.001168	0	6	46		
KIF17	57576	broad.mit.edu	37	1	21042025	21042025	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:21042025G>C	ENST00000247986.2	-	2	649	c.339C>G	c.(337-339)atC>atG	p.I113M	KIF17_ENST00000375044.1_Missense_Mutation_p.I13M|KIF17_ENST00000400463.3_Missense_Mutation_p.I113M			Q9P2E2	KIF17_HUMAN	kinesin family member 17	113	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCCTGGGGATGATGCCTCTCT	0.652																																						uc001bdr.3		NaN																	0				ovary(3)|skin(1)	4						c.(337-339)ATC>ATG		kinesin family member 17 isoform a							88.0	78.0	81.0					1																	21042025		2203	4300	6503	SO:0001583	missense	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21042025G>C	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.339C>G	1.37:g.21042025G>C	ENSP00000247986:p.Ile113Met					KIF17_uc001bds.3_Missense_Mutation_p.I113M	p.I113M	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	2	457	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	113			Kinesin-motor.		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	ENST00000247986.2	37	c.339C>G	CCDS213.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604011	0.87157	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.77489	-1.1;-1.1;-1.1	4.75	4.75	0.60458	Kinesin, motor domain (4);	0.249833	0.20480	U	0.091518	D	0.84714	0.5533	M	0.71206	2.165	0.58432	D	0.999996	B;P	0.44006	0.391;0.824	B;P	0.53649	0.364;0.731	D	0.86589	0.1859	10	0.87932	D	0	.	16.4866	0.84185	0.0:0.0:1.0:0.0	.	113;113	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	M	13;113;113	ENSP00000364184:I13M;ENSP00000383311:I113M;ENSP00000247986:I113M	ENSP00000247986:I113M	I	-	3	3	KIF17	20914612	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.016000	0.29976	2.473000	0.83533	0.655000	0.94253	ATC		0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1		NM_020816		25	107	0	0	0	0.004656	0	25	107		
RPL11	6135	broad.mit.edu	37	1	24021182	24021182	+	Silent	SNP	C	C	T	rs1059937		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:24021182C>T	ENST00000374550.3	+	4	342	c.297C>T	c.(295-297)ttC>ttT	p.F99F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	99					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AAAACAACTTCTCAGATACTG	0.438																																						uc001bhk.2		NaN																	0				central_nervous_system(1)	1						c.(295-297)TTC>TTT		ribosomal protein L11							139.0	138.0	138.0					1																	24021182		2203	4300	6503	SO:0001819	synonymous_variant	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24021182C>T	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.297C>T	1.37:g.24021182C>T						RPL11_uc001bhl.2_Silent_p.F98F|RPL11_uc001bhm.2_Silent_p.F88F|RPL11_uc001bhn.1_Silent_p.F88F	p.F99F	NM_000975	NP_000966	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	4	317	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	99					P25121|P39026|Q8TDH2|Q9Y674	Silent	SNP	ENST00000374550.3	37	c.297C>T	CCDS238.1																																																																																				0.438	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1		NM_000975		84	60	0	0	0	0.01441	0	84	60		
RPL11	6135	broad.mit.edu	37	1	24021260	24021260	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:24021260C>G	ENST00000374550.3	+	4	420	c.375C>G	c.(373-375)atC>atG	p.I125M	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	125					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCATTGGTATCTACGGCCTGG	0.403																																						uc001bhk.2		NaN																	0				central_nervous_system(1)	1						c.(373-375)ATC>ATG		ribosomal protein L11							152.0	145.0	147.0					1																	24021260		2203	4300	6503	SO:0001583	missense	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24021260C>G	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.375C>G	1.37:g.24021260C>G	ENSP00000363676:p.Ile125Met					RPL11_uc001bhl.2_Missense_Mutation_p.I124M|RPL11_uc001bhm.2_Missense_Mutation_p.I114M|RPL11_uc001bhn.1_Missense_Mutation_p.I114M	p.I125M	NM_000975	NP_000966	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	4	395	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	125					P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	c.375C>G	CCDS238.1	.	.	.	.	.	.	.	.	.	.	C	33	5.248960	0.95305	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.78924	-1.22;-1.22;-1.22	5.94	5.94	0.96194	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	H	0.95437	3.67	0.80722	D	1	B;B	0.28026	0.165;0.198	P;P	0.48815	0.455;0.591	D	0.90545	0.4505	10	0.87932	D	0	-4.499	20.3782	0.98924	0.0:1.0:0.0:0.0	.	124;125	P62913-2;P62913	.;RL11_HUMAN	M	125;123;123	ENSP00000363676:I125M;ENSP00000390839:I123M;ENSP00000398888:I123M	ENSP00000363676:I125M	I	+	3	3	RPL11	23893847	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.940000	0.70187	2.821000	0.97095	0.651000	0.88453	ATC		0.403	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1		NM_000975		78	69	0	0	0	0.01441	0	78	69		
CSMD2	114784	broad.mit.edu	37	1	34208917	34208917	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:34208917A>T	ENST00000373381.4	-	14	2313	c.2137T>A	c.(2137-2139)Tcc>Acc	p.S713T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	673	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCCCTGTGGAGTGGTCAGTC	0.597																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(2017-2019)TCC>ACC		CUB and Sushi multiple domains 2							54.0	46.0	49.0					1																	34208917		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34208917A>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2137T>A	1.37:g.34208917A>T	ENSP00000362479:p.Ser713Thr					CSMD2_uc001bxm.1_Missense_Mutation_p.S713T	p.S673T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			14	2046	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	673			Extracellular (Potential).|CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.2017T>A		.	.	.	.	.	.	.	.	.	.	A	16.60	3.168719	0.57584	.	.	ENSG00000121904	ENST00000373381	T	0.18657	2.2	5.69	5.69	0.88448	CUB (5);	0.060992	0.64402	D	0.000003	T	0.25975	0.0633	L	0.58925	1.835	0.80722	D	1	B;B	0.31009	0.062;0.303	B;B	0.33960	0.173;0.173	T	0.02269	-1.1185	10	0.36615	T	0.2	.	15.4289	0.75077	1.0:0.0:0.0:0.0	.	673;713	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	713	ENSP00000362479:S713T	ENSP00000241312:S673T	S	-	1	0	CSMD2	33981504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.342000	0.65970	2.291000	0.77112	0.533000	0.62120	TCC		0.597	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		14	49	0	0	0	0.020292	0	14	49		
CSMD2	114784	broad.mit.edu	37	1	34291361	34291361	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:34291361C>G	ENST00000373381.4	-	7	1224	c.1048G>C	c.(1048-1050)Gag>Cag	p.E350Q		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	310	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACTTCAACTCAATTTGCTTC	0.537																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(928-930)GAG>CAG		CUB and Sushi multiple domains 2							103.0	78.0	86.0					1																	34291361		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34291361C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1048G>C	1.37:g.34291361C>G	ENSP00000362479:p.Glu350Gln					CSMD2_uc001bxm.1_Missense_Mutation_p.E350Q	p.E310Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			7	957	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	310			Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.928G>C		.	.	.	.	.	.	.	.	.	.	C	21.3	4.134657	0.77662	.	.	ENSG00000121904	ENST00000373381	D	0.91180	-2.8	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.92708	0.7682	L	0.48642	1.525	0.80722	D	1	D;D	0.60160	0.981;0.987	P;D	0.65443	0.716;0.935	D	0.90614	0.4554	10	0.23302	T	0.38	.	17.5357	0.87830	0.0:1.0:0.0:0.0	.	310;350	Q7Z408;E7EUA6	CSMD2_HUMAN;.	Q	350	ENSP00000362479:E350Q	ENSP00000241312:E310Q	E	-	1	0	CSMD2	34063948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.546000	0.82137	2.438000	0.82558	0.655000	0.94253	GAG		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		9	43	0	0	0	0.006214	0	9	43		
ZMYM1	79830	broad.mit.edu	37	1	35576046	35576046	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35576046C>T	ENST00000373330.1	+	8	1133	c.959C>T	c.(958-960)tCa>tTa	p.S320L	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S320L			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	320						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAATCTTCTTCAGGTAATGTT	0.299																																						uc001bym.2		NaN																	0					0						c.(958-960)TCA>TTA		zinc finger, MYM domain containing 1							166.0	151.0	155.0					1																	35576046		1847	4113	5960	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35576046C>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.959C>T	1.37:g.35576046C>T	ENSP00000362427:p.Ser320Leu					ZMYM1_uc001byn.2_Missense_Mutation_p.S320L|ZMYM1_uc010ohu.1_Missense_Mutation_p.S320L|ZMYM1_uc001byo.2_5'UTR|ZMYM1_uc009vut.2_Missense_Mutation_p.S245L	p.S320L	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			8	1107	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	320			MYM-type 4.		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.959C>T	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884845	0.51908	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.66	3.74	0.42951	.	0.454838	0.18766	N	0.131757	T	0.34629	0.0904	L	0.34521	1.04	0.80722	D	1	B;B	0.20887	0.045;0.049	B;B	0.22386	0.035;0.039	T	0.13282	-1.0515	10	0.40728	T	0.16	-2.4529	14.9586	0.71138	0.0:0.8564:0.1436:0.0	.	320;320	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	L	320;320;245;320	ENSP00000394233:S320L;ENSP00000352920:S320L;ENSP00000362426:S245L;ENSP00000362427:S320L	ENSP00000352920:S320L	S	+	2	0	ZMYM1	35348633	0.992000	0.36948	0.993000	0.49108	0.994000	0.84299	3.223000	0.51231	1.300000	0.44818	0.655000	0.94253	TCA		0.299	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772		16	102	0	0	0	0.003163	0	16	102		
ZMYM1	79830	broad.mit.edu	37	1	35579264	35579264	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35579264C>T	ENST00000373330.1	+	11	2007	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.F611F			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	611						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGTTGACTTCTATAACAGTA	0.299																																						uc001bym.2		NaN																	0					0						c.(1831-1833)TTC>TTT		zinc finger, MYM domain containing 1							45.0	44.0	44.0					1																	35579264		1842	4079	5921	SO:0001819	synonymous_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35579264C>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1833C>T	1.37:g.35579264C>T						ZMYM1_uc001byn.2_Silent_p.F611F|ZMYM1_uc010ohu.1_Silent_p.F592F|ZMYM1_uc001byo.2_Silent_p.F251F|ZMYM1_uc009vut.2_Silent_p.F536F	p.F611F	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	1981	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	611					D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	c.1833C>T	CCDS41302.1																																																																																				0.299	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772		15	54	0	0	0	0.004007	0	15	54		
ZMYM1	79830	broad.mit.edu	37	1	35580694	35580694	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:35580694C>A	ENST00000373330.1	+	11	3437	c.3263C>A	c.(3262-3264)tCt>tAt	p.S1088Y	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1088Y			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1088						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACTCATTTTCTACCCTGCCT	0.398																																						uc001bym.2		NaN																	0					0						c.(3262-3264)TCT>TAT		zinc finger, MYM domain containing 1							130.0	120.0	123.0					1																	35580694		1868	4111	5979	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580694C>A	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3263C>A	1.37:g.35580694C>A	ENSP00000362427:p.Ser1088Tyr					ZMYM1_uc001byn.2_Missense_Mutation_p.S1088Y|ZMYM1_uc010ohu.1_Missense_Mutation_p.S1069Y|ZMYM1_uc001byo.2_Missense_Mutation_p.S728Y|ZMYM1_uc009vut.2_Missense_Mutation_p.S1013Y	p.S1088Y	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	3411	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1088					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.3263C>A	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315532	0.23908	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.42131	0.98;0.98;0.98	4.5	4.5	0.54988	HAT dimerisation (1);Ribonuclease H-like (1);	0.141093	0.33534	N	0.004816	T	0.67608	0.2911	M	0.90870	3.155	0.33634	D	0.606367	D;D	0.69078	0.997;0.997	D;D	0.83275	0.996;0.981	T	0.78468	-0.2192	9	.	.	.	-19.1821	8.692	0.34273	0.0:0.8999:0.0:0.1001	.	1069;1088	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	Y	1088;1013;1088	ENSP00000352920:S1088Y;ENSP00000362426:S1013Y;ENSP00000362427:S1088Y	.	S	+	2	0	ZMYM1	35353281	0.980000	0.34600	0.698000	0.30274	0.058000	0.15608	1.804000	0.38873	2.791000	0.96007	0.591000	0.81541	TCT		0.398	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772		25	107	1	0	3.08376e-08	0.01892	4.11168e-08	25	107		
AGO4	192670	broad.mit.edu	37	1	36298149	36298149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:36298149C>T	ENST00000373210.3	+	11	1602	c.1357C>T	c.(1357-1359)Caa>Taa	p.Q453*		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	453					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)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										ACCTCAGAAACAATGTAGGGA	0.398																																						uc001bzj.1		NaN																	0				ovary(1)	1						c.(1357-1359)CAA>TAA		eukaryotic translation initiation factor 2C, 4							122.0	126.0	124.0					1																	36298149		2203	4300	6503	SO:0001587	stop_gained	192670				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr1:36298149C>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1357C>T	1.37:g.36298149C>T	ENSP00000362306:p.Gln453*						p.Q453*	NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN			11	1547	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	453					A7MD27	Nonsense_Mutation	SNP	ENST00000373210.3	37	c.1357C>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	39	7.414465	0.98269	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.36	5.36	0.76844	.	0.164660	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-2.5418	19.0955	0.93249	0.0:1.0:0.0:0.0	.	.	.	.	X	453	.	ENSP00000362306:Q453X	Q	+	1	0	EIF2C4	36070736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.511000	0.84671	0.655000	0.94253	CAA		0.398	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3		NM_017629		26	75	0	0	0	0.005443	0	26	75		
HIVEP3	59269	broad.mit.edu	37	1	41978764	41978764	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:41978764C>G	ENST00000372583.1	-	8	7013	c.6128G>C	c.(6127-6129)aGa>aCa	p.R2043T	HIVEP3_ENST00000372584.1_Missense_Mutation_p.R2043T|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R2043T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.R2043T	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2043					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCCAGTTCTCTTCCCAGGGG	0.637																																						uc001cgz.3		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(6127-6129)AGA>ACA		human immunodeficiency virus type I enhancer							44.0	48.0	47.0					1																	41978764		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41978764C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.6128G>C	1.37:g.41978764C>G	ENSP00000361664:p.Arg2043Thr					HIVEP3_uc001cha.3_Missense_Mutation_p.R2043T|HIVEP3_uc001cgy.2_RNA	p.R2043T	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			8	7341	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	2043					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.6128G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764520	0.31228	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.11821	2.74;2.75;2.75;2.74	4.39	1.19	0.21007	.	0.139902	0.32868	N	0.005556	T	0.08133	0.0203	N	0.24115	0.695	0.33023	D	0.529122	P;P	0.44429	0.835;0.745	B;B	0.40565	0.333;0.179	T	0.20672	-1.0268	10	0.87932	D	0	-4.2977	5.4808	0.16723	0.0:0.5933:0.1471:0.2596	.	2043;2043	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	T	2043	ENSP00000361665:R2043T;ENSP00000361664:R2043T;ENSP00000247584:R2043T;ENSP00000410828:R2043T	ENSP00000247584:R2043T	R	-	2	0	HIVEP3	41751351	0.979000	0.34478	0.407000	0.26434	0.661000	0.39034	1.378000	0.34328	0.401000	0.25424	0.467000	0.42956	AGA		0.637	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1		NM_024503		22	100	0	0	0	0.01892	0	22	100		
CCDC23	374969	broad.mit.edu	37	1	43282117	43282117	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:43282117C>G	ENST00000372521.4	-	2	197	c.99G>C	c.(97-99)caG>caC	p.Q33H	CCDC23_ENST00000372522.1_Missense_Mutation_p.Q33H|ERMAP_ENST00000372517.2_5'Flank|CCDC23_ENST00000537227.1_Missense_Mutation_p.Q33H|CCDC23_ENST00000497437.1_5'UTR	NM_199342.3	NP_955374.1	Q8N300	CCD23_HUMAN	coiled-coil domain containing 23	33					negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein ubiquitination (GO:0031397)|protein secretion (GO:0009306)	apical part of cell (GO:0045177)				large_intestine(1)	1	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTTTGTCTCTGCTTCAGCT	0.473																																						uc001cib.2		NaN																	0					0						c.(97-99)CAG>CAC		coiled-coil domain containing 23							210.0	195.0	200.0					1																	43282117		2203	4300	6503	SO:0001583	missense	374969							g.chr1:43282117C>G	AL512353, CAH72714	CCDS474.1	1p34.2	2008-02-05			ENSG00000177868	ENSG00000177868			29204	protein-coding gene	gene with protein product							Standard	NM_199342		Approved	MGC45441	uc001cib.2	Q8N300	OTTHUMG00000007566	ENST00000372521.4:c.99G>C	1.37:g.43282117C>G	ENSP00000361599:p.Gln33His					ERMAP_uc010ojw.1_5'Flank|ERMAP_uc001cic.1_5'Flank|ERMAP_uc001cid.1_5'Flank	p.Q33H	NM_199342	NP_955374	Q8N300	CCD23_HUMAN			2	334	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	33			Potential.		A8K5P1|D3DPW7	Missense_Mutation	SNP	ENST00000372521.4	37	c.99G>C	CCDS474.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.844726	0.51164	.	.	ENSG00000177868	ENST00000372522;ENST00000372521;ENST00000537227	.	.	.	5.33	-6.16	0.02098	.	0.000000	0.64402	D	0.000015	T	0.70413	0.3221	.	.	.	0.33750	D	0.620503	D	0.64830	0.994	D	0.75484	0.986	T	0.77250	-0.2657	8	0.72032	D	0.01	.	15.3531	0.74405	0.0:0.6876:0.0:0.3124	.	33	Q8N300	CCD23_HUMAN	H	33	.	ENSP00000361599:Q33H	Q	-	3	2	CCDC23	43054704	0.997000	0.39634	0.929000	0.37066	0.939000	0.58152	0.279000	0.18771	-0.897000	0.03910	-0.300000	0.09419	CAG		0.473	CCDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019997.1		NM_199342		45	247	0	0	0	0.01441	0	45	247		
TCEANC2	127428	broad.mit.edu	37	1	54520107	54520107	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:54520107C>A	ENST00000234827.1	+	2	212	c.12C>A	c.(10-12)ttC>ttA	p.F4L	TMEM59_ENST00000234831.5_5'Flank|TMEM59_ENST00000371337.3_5'Flank|MIR4781_ENST00000585250.1_RNA|TCEANC2_ENST00000498272.1_3'UTR|TMEM59_ENST00000371341.1_5'Flank|TCEANC2_ENST00000371331.1_Missense_Mutation_p.F34L	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	4					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						TGGATAAATTCGTCATTCGAA	0.478																																						uc001cwt.1		NaN																	0					0						c.(10-12)TTC>TTA		hypothetical protein LOC127428							74.0	65.0	68.0					1																	54520107		2203	4300	6503	SO:0001583	missense	127428				transcription, DNA-dependent	nucleus	DNA binding	g.chr1:54520107C>A	AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 83"""	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.12C>A	1.37:g.54520107C>A	ENSP00000234827:p.Phe4Leu					C1orf83_uc001cwu.1_RNA|TMEM59_uc001cwp.2_5'Flank|TMEM59_uc001cwq.2_5'Flank|TMEM59_uc001cwr.2_5'Flank|TMEM59_uc001cws.1_5'Flank	p.F4L	NM_153035	NP_694580	Q96MN5	TEAN2_HUMAN			2	212	+			4					Q5T702|Q8N8N2	Missense_Mutation	SNP	ENST00000234827.1	37	c.12C>A	CCDS587.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124620	0.94429	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	.	.	.	6.11	2.88	0.33553	.	0.087508	0.85682	D	0.000000	T	0.67869	0.2939	M	0.66939	2.045	0.53688	D	0.99997	D	0.71674	0.998	D	0.64776	0.929	T	0.68420	-0.5413	9	0.72032	D	0.01	-8.3751	8.0586	0.30619	0.0:0.6545:0.0:0.3455	.	4	Q96MN5	TEAN2_HUMAN	L	4;34	.	ENSP00000234827:F4L	F	+	3	2	TCEANC2	54292695	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	1.522000	0.35921	0.895000	0.36342	0.655000	0.94253	TTC		0.478	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023245.1		NM_153035		14	70	1	0	0.000308642	0.003163	0.000392558	14	70		
RAVER2	55225	broad.mit.edu	37	1	65273062	65273062	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:65273062C>T	ENST00000294428.3	+	9	1663	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L516F|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	529						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GCAGCCTTATCTTCAGAGCTT	0.532																																						uc001dbs.1		NaN																	0				large_intestine(1)	1						c.(1546-1548)CTT>TTT		ribonucleoprotein, PTB-binding 2							38.0	40.0	39.0					1																	65273062		1917	4129	6046	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65273062C>T	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1585C>T	1.37:g.65273062C>T	ENSP00000294428:p.Leu529Phe					RAVER2_uc001dbt.1_Missense_Mutation_p.L408F|RAVER2_uc010opb.1_Intron	p.L516F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			9	1624	+			529					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1546C>T		.	.	.	.	.	.	.	.	.	.	C	18.40	3.616134	0.66672	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.36878	1.26;1.23	5.1	5.1	0.69264	.	0.071997	0.53938	D	0.000050	T	0.38188	0.1031	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	P	0.60682	0.878	T	0.15694	-1.0428	10	0.11182	T	0.66	.	16.3114	0.82873	0.0:1.0:0.0:0.0	.	516	Q9HCJ3-2	.	F	516;529	ENSP00000360112:L516F;ENSP00000294428:L529F	ENSP00000294428:L529F	L	+	1	0	RAVER2	65045650	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.514000	0.60482	2.376000	0.81061	0.637000	0.83480	CTT		0.532	RAVER2-201	KNOWN	basic	protein_coding	protein_coding			NM_018211		11	99	0	0	0	0.008291	0	11	99		
IL23R	149233	broad.mit.edu	37	1	67724193	67724193	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:67724193T>G	ENST00000347310.5	+	11	1443	c.1272T>G	c.(1270-1272)agT>agG	p.S424R	IL23R_ENST00000395227.1_Missense_Mutation_p.S169R|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	424					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATAATTCCAGTGAGCAGGTCC	0.343																																						uc001ddo.2		NaN																	0					0						c.(1270-1272)AGT>AGG		interleukin 23 receptor precursor							98.0	116.0	110.0					1																	67724193		2202	4299	6501	SO:0001583	missense	149233				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity	g.chr1:67724193T>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1272T>G	1.37:g.67724193T>G	ENSP00000321345:p.Ser424Arg					IL23R_uc009waz.2_Missense_Mutation_p.S221R|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.S22R|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.S6R|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.S170R|IL23R_uc010opn.1_Missense_Mutation_p.S269R|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Intron|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Intron|IL23R_uc010opr.1_Intron|IL23R_uc010ops.1_Missense_Mutation_p.S221R|IL23R_uc010opt.1_Missense_Mutation_p.S65R|IL23R_uc010opu.1_Missense_Mutation_p.S120R|IL23R_uc010opv.1_Missense_Mutation_p.S182R|IL23R_uc010opw.1_Missense_Mutation_p.S59R|IL23R_uc010opx.1_Missense_Mutation_p.S65R|IL23R_uc010opy.1_Missense_Mutation_p.S191R|IL23R_uc010opz.1_Missense_Mutation_p.S65R|IL23R_uc010oqa.1_Missense_Mutation_p.S65R|IL23R_uc010oqb.1_Missense_Mutation_p.S253R|IL23R_uc010oqc.1_Missense_Mutation_p.S140R|IL23R_uc010oqd.1_Missense_Mutation_p.S59R|IL23R_uc010oqe.1_Missense_Mutation_p.S22R|IL23R_uc010oqf.1_Missense_Mutation_p.S22R|IL23R_uc010oqg.1_Missense_Mutation_p.S22R|IL23R_uc010oqh.1_Missense_Mutation_p.S65R|IL23R_uc001dds.2_Missense_Mutation_p.S169R|IL23R_uc001ddt.2_Missense_Mutation_p.S22R	p.S424R	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN			11	1357	+			424			Cytoplasmic (Potential).		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	ENST00000347310.5	37	c.1272T>G	CCDS637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.72|13.72	2.322731|2.322731	0.41096|0.41096	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.40225|.	1.04;1.15|.	6.07|6.07	-6.2|-6.2	0.02072|0.02072	.|.	0.296920|.	0.41605|.	D|.	0.000853|.	T|T	0.21468|0.21468	0.0517|0.0517	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	1|1	B;D;B;B;B;B;D|.	0.89917|.	0.058;0.999;0.169;0.102;0.169;0.102;1.0|.	B;D;B;B;B;B;D|.	0.76575|.	0.043;0.974;0.091;0.043;0.091;0.063;0.988|.	T|T	0.44143|0.44143	-0.9347|-0.9347	10|5	0.87932|.	D|.	0|.	.|.	4.5587|4.5587	0.12149|0.12149	0.112:0.5548:0.1141:0.2191|0.112:0.5548:0.1141:0.2191	.|.	170;248;59;182;22;169;424|.	Q5VWK5-2;B6HY71;Q5VWK5-5;E9PHX4;Q5VWK5-7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;IL23R_HUMAN|.	R|G	424;253;182;169|186	ENSP00000321345:S424R;ENSP00000378652:S169R|.	ENSP00000321345:S424R|.	S|V	+|+	3|2	2|0	IL23R|IL23R	67496781|67496781	0.000000|0.000000	0.05858|0.05858	0.380000|0.380000	0.26093|0.26093	0.629000|0.629000	0.37895|0.37895	-3.710000|-3.710000	0.00387|0.00387	-0.513000|-0.513000	0.06496|0.06496	0.533000|0.533000	0.62120|0.62120	AGT|GTG		0.343	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2		NM_144701		22	180	0	0	0	0.021523	0	22	180		
LRRC7	57554	broad.mit.edu	37	1	70504754	70504754	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:70504754G>A	ENST00000035383.5	+	19	3163	c.3133G>A	c.(3133-3135)Gaa>Aaa	p.E1045K	LRRC7_ENST00000310961.5_Missense_Mutation_p.E1050K|LRRC7_ENST00000415775.2_Missense_Mutation_p.E329K	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1045						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTGAAAGCCGAAAAGAGGAT	0.438																																						uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3133-3135)GAA>AAA		leucine rich repeat containing 7							62.0	67.0	65.0					1																	70504754		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504754G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3133G>A	1.37:g.70504754G>A	ENSP00000035383:p.Glu1045Lys					LRRC7_uc009wbg.2_Missense_Mutation_p.E329K|LRRC7_uc001deq.2_Missense_Mutation_p.E286K	p.E1045K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3163	+			1045					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3133G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154588	0.21371	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37235	1.21;1.29;2.37	5.63	5.63	0.86233	.	0.437348	0.25827	N	0.028049	T	0.22282	0.0537	L	0.50333	1.59	0.53688	D	0.99997	P;B;B	0.40681	0.727;0.33;0.222	B;B;B	0.33521	0.165;0.049;0.022	T	0.04678	-1.0934	10	0.41790	T	0.15	.	18.6607	0.91471	0.0:0.0:1.0:0.0	.	329;1045;1045	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	K	1050;1045;329;868	ENSP00000309245:E1050K;ENSP00000035383:E1045K;ENSP00000394867:E329K	ENSP00000035383:E1045K	E	+	1	0	LRRC7	70277342	1.000000	0.71417	0.127000	0.21898	0.003000	0.03518	6.700000	0.74619	2.653000	0.90120	0.563000	0.77884	GAA		0.438	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		11	33	0	0	0	0.010729	0	11	33		
LRRIQ3	127255	broad.mit.edu	37	1	74507428	74507428	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:74507428T>A	ENST00000395089.1	-	6	1186	c.1187A>T	c.(1186-1188)aAa>aTa	p.K396I	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.K396I			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	396										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCGTATGTCTTTTTTAATGAT	0.343																																						uc001dfy.3		NaN																	0				ovary(2)	2						c.(1186-1188)AAA>ATA		leucine-rich repeats and IQ motif containing 3							102.0	94.0	96.0					1																	74507428		1842	4090	5932	SO:0001583	missense	127255							g.chr1:74507428T>A	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1187A>T	1.37:g.74507428T>A	ENSP00000378524:p.Lys396Ile					LRRIQ3_uc001dfz.3_RNA	p.K396I	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1379	-			396					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1187A>T	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809480	0.31961	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08370	3.1;3.1	5.35	1.13	0.20643	.	0.905820	0.09221	N	0.831910	T	0.02727	0.0082	N	0.24115	0.695	0.09310	N	1	P	0.52316	0.952	P	0.52267	0.694	T	0.36578	-0.9742	10	0.24483	T	0.36	.	3.7938	0.08732	0.0:0.2507:0.1929:0.5564	.	396	A6PVS8	LRIQ3_HUMAN	I	396	ENSP00000378524:K396I;ENSP00000346414:K396I	ENSP00000346414:K396I	K	-	2	0	LRRIQ3	74280016	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.033000	0.13754	0.207000	0.20607	0.477000	0.44152	AAA		0.343	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258		12	71	0	0	0	0.013537	0	12	71		
FPGT	8790	broad.mit.edu	37	1	74670357	74670357	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:74670357A>G	ENST00000609362.1	+	4	663	c.626A>G	c.(625-627)gAt>gGt	p.D209G	FPGT_ENST00000370894.5_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.D222G|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	209					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TTTGTCTTAGATCCTTTTGAT	0.378																																						uc001dgb.1		NaN																	0				skin(1)	1						c.(625-627)GAT>GGT		fucose-1-phosphate guanyltransferase							98.0	96.0	97.0					1																	74670357		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670357A>G	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.626A>G	1.37:g.74670357A>G	ENSP00000476680:p.Asp209Gly					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.D209G	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	663	+			209					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.626A>G	CCDS663.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.426684	0.43020	.	.	ENSG00000254685	ENST00000370898	T	0.35789	1.29	5.57	5.57	0.84162	L-fucokinase (1);	.	.	.	.	T	0.12092	0.0294	N	0.17082	0.46	0.80722	D	1	B	0.18610	0.029	B	0.20955	0.032	T	0.09422	-1.0675	8	.	.	.	.	15.7348	0.77834	1.0:0.0:0.0:0.0	.	209	O14772	FPGT_HUMAN	G	209	ENSP00000359935:D209G	.	D	+	2	0	TNNI3K	74442945	1.000000	0.71417	0.786000	0.31890	0.983000	0.72400	7.013000	0.76373	2.116000	0.64780	0.482000	0.46254	GAT		0.378	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					13	111	0	0	0	0.020292	0	13	111		
LPHN2	23266	broad.mit.edu	37	1	82421724	82421724	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:82421724C>G	ENST00000370728.1	+	13	2630	c.1985C>G	c.(1984-1986)tCa>tGa	p.S662*	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S662*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S662*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S662*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S662*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S649*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S587*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S649*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S649*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S649*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S662*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S649*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S649*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S662*			O95490	LPHN2_HUMAN	latrophilin 2	662					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAAGGGTCTCAATGCCCACA	0.353																																						uc001dit.3		NaN																	0		p.S649S(1)		ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1945-1947)TCA>TGA		latrophilin 2 precursor							79.0	74.0	76.0					1																	82421724		2203	4300	6503	SO:0001587	stop_gained	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82421724C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1985C>G	1.37:g.82421724C>G	ENSP00000359763:p.Ser662*					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.S649*|LPHN2_uc001div.2_Nonsense_Mutation_p.S649*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.S649*|LPHN2_uc001diw.2_Nonsense_Mutation_p.S233*	p.S649*	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	10	2127	+			662			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	ENST00000370728.1	37	c.1946C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.273165|12.273165	0.99652|0.99652	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.165270	.|0.43579	.|D	.|0.000560	T|.	0.62588|.	0.2440|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56968|.	-0.7891|.	3|.	.|0.24483	.|T	.|0.36	.|.	19.3323|19.3323	0.94295|0.94295	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	530|587;662;662;662;662;649;649;649;649;649;662;649;662;662	.|.	.|ENSP00000271029:S662X	Q|S	+|+	1|2	0|0	LPHN2|LPHN2	82194312|82194312	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.854000|4.854000	0.62918|0.62918	2.568000|2.568000	0.86640|0.86640	0.467000|0.467000	0.42956|0.42956	CAA|TCA		0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		15	19	0	0	0	0.007413	0	15	19		
TTLL7	79739	broad.mit.edu	37	1	84335732	84335732	+	Missense_Mutation	SNP	C	C	G	rs200764104		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:84335732C>G	ENST00000260505.8	-	21	2954	c.2577G>C	c.(2575-2577)ttG>ttC	p.L859F	TTLL7_ENST00000477524.1_Intron	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	859					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGGTGTTCTCAAGAAGAATT	0.368																																						uc001djc.2		NaN																	0				ovary(1)	1						c.(2575-2577)TTG>TTC		tubulin tyrosine ligase-like family, member 7							155.0	135.0	142.0					1																	84335732		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84335732C>G	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2577G>C	1.37:g.84335732C>G	ENSP00000260505:p.Leu859Phe					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_Intron	p.L859F	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	21	2973	-			859					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.2577G>C	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991428	0.54041	.	.	ENSG00000137941	ENST00000260505	T	0.04917	3.53	5.59	5.59	0.84812	.	0.526832	0.21234	N	0.077936	T	0.02610	0.0079	N	0.22421	0.69	0.30918	N	0.728332	B	0.27380	0.177	B	0.19666	0.026	T	0.31888	-0.9927	10	0.72032	D	0.01	.	17.7639	0.88471	0.0:1.0:0.0:0.0	.	859	Q6ZT98	TTLL7_HUMAN	F	859	ENSP00000260505:L859F	ENSP00000260505:L859F	L	-	3	2	TTLL7	84108320	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.770000	0.62309	2.612000	0.88384	0.655000	0.94253	TTG		0.368	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1		NM_024686		15	12	0	0	0	0.020292	0	15	12		
LPAR3	23566	broad.mit.edu	37	1	85331077	85331077	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:85331077T>C	ENST00000440886.1	-	1	765	c.727A>G	c.(727-729)Act>Gct	p.T243A	LPAR3_ENST00000370611.3_Missense_Mutation_p.T243A|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	243					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CCTAAGACAGTCATCACCGTC	0.502																																						uc001dkl.2		NaN																	0				lung(3)|ovary(2)	5						c.(727-729)ACT>GCT		lysophosphatidic acid receptor 3							59.0	45.0	50.0					1																	85331077		2203	4300	6503	SO:0001583	missense	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331077T>C	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.727A>G	1.37:g.85331077T>C	ENSP00000395389:p.Thr243Ala					LPAR3_uc009wcj.1_Missense_Mutation_p.T243A	p.T243A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	766	-			243			Helical; Name=6; (Potential).		A0AVA3	Missense_Mutation	SNP	ENST00000440886.1	37	c.727A>G	CCDS700.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003632	0.35320	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.34859	1.34;1.34	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.166659	0.53938	D	0.000052	T	0.07954	0.0199	N	0.04355	-0.22	0.37460	D	0.915168	B	0.02656	0.0	B	0.08055	0.003	T	0.06320	-1.0833	10	0.62326	D	0.03	.	7.782	0.29070	0.0:0.1563:0.0:0.8437	.	243	Q9UBY5	LPAR3_HUMAN	A	243	ENSP00000395389:T243A;ENSP00000359643:T243A	ENSP00000359643:T243A	T	-	1	0	LPAR3	85103665	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.233000	0.43027	1.974000	0.57490	0.528000	0.53228	ACT		0.502	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1		NM_012152		4	18	0	0	0	0.014758	0	4	18		
HFM1	164045	broad.mit.edu	37	1	91784914	91784914	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:91784914T>C	ENST00000370425.3	-	24	2714	c.2616A>G	c.(2614-2616)atA>atG	p.I872M	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.I104M|HFM1_ENST00000370424.3_Missense_Mutation_p.I551M	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	872	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAAAATCTTGTATGGGAATGC	0.353																																						uc001doa.3		NaN																	0					0						c.(2614-2616)ATA>ATG		HFM1 protein							108.0	103.0	104.0					1																	91784914		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91784914T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2616A>G	1.37:g.91784914T>C	ENSP00000359454:p.Ile872Met					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.I551M|HFM1_uc001dob.3_Missense_Mutation_p.I104M|HFM1_uc010osv.1_Missense_Mutation_p.I556M	p.I872M	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	24	2716	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	872			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2616A>G	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.42|14.42	2.531203|2.531203	0.45073|0.45073	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.62788|.	0.0;0.0;0.0|.	5.0|5.0	0.859|0.859	0.19036|0.19036	Sec63 domain (2);|.	0.160019|.	0.53938|.	D|.	0.000051|.	T|T	0.53753|0.53753	0.1816|0.1816	M|M	0.79123|0.79123	2.44|2.44	0.33443|0.33443	D|D	0.582705|0.582705	P;D;D|.	0.67145|.	0.922;0.996;0.962|.	P;D;D|.	0.70227|.	0.743;0.968;0.95|.	T|T	0.54984|0.54984	-0.8211|-0.8211	10|5	0.72032|.	D|.	0.01|.	.|.	10.796|10.796	0.46461|0.46461	0.5993:0.0:0.0:0.4007|0.5993:0.0:0.0:0.4007	.|.	551;127;872|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	M|C	872;104;551;556|128	ENSP00000359454:I872M;ENSP00000294696:I104M;ENSP00000359453:I551M|.	ENSP00000294696:I104M|.	I|Y	-|-	3|2	3|0	HFM1|HFM1	91557502|91557502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.668000|1.668000	0.37481|0.37481	0.274000|0.274000	0.22072|0.22072	0.528000|0.528000	0.53228|0.53228	ATA|TAC		0.353	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2		NM_001017975		19	13	0	0	0	0.010504	0	19	13		
TGFBR3	7049	broad.mit.edu	37	1	92178024	92178024	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:92178024C>G	ENST00000525962.1	-	12	2003	c.1942G>C	c.(1942-1944)Gat>Cat	p.D648H	TGFBR3_ENST00000370399.2_Missense_Mutation_p.D647H|TGFBR3_ENST00000212355.4_Missense_Mutation_p.D648H			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	648	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|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 transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GACATCCTATCAGGGTTCGAA	0.393																																						uc001doh.2		NaN																	0				ovary(3)	3						c.(1942-1944)GAT>CAT		transforming growth factor, beta receptor III							120.0	115.0	117.0					1																	92178024		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92178024C>G	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1942G>C	1.37:g.92178024C>G	ENSP00000436127:p.Asp648His					TGFBR3_uc009wde.2_Intron|TGFBR3_uc010osy.1_Missense_Mutation_p.D606H|TGFBR3_uc001doi.2_Missense_Mutation_p.D647H|TGFBR3_uc001doj.2_Missense_Mutation_p.D647H	p.D648H	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	13	2408	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	648			ZP.|Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1942G>C	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804771	0.70682	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	6.16	6.16	0.99307	Endoglin/CD105 antigen conserved site (1);Zona pellucida sperm-binding protein (3);	0.307055	0.38005	N	0.001843	D	0.89026	0.6598	M	0.72118	2.19	0.43688	D	0.996133	D;D	0.60160	0.987;0.962	D;P	0.63283	0.913;0.846	D	0.86477	0.1789	9	.	.	.	-17.7956	20.8598	0.99761	0.0:1.0:0.0:0.0	.	647;648	Q03167-2;Q03167	.;TGBR3_HUMAN	H	648;647;648;647	ENSP00000212355:D648H;ENSP00000359426:D647H;ENSP00000436127:D648H;ENSP00000432638:D647H	.	D	-	1	0	TGFBR3	91950612	0.969000	0.33509	0.610000	0.28997	0.986000	0.74619	2.727000	0.47311	2.937000	0.99478	0.650000	0.86243	GAT		0.393	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243		12	59	0	0	0	0.013537	0	12	59		
NTNG1	22854	broad.mit.edu	37	1	107867236	107867236	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:107867236G>A	ENST00000370068.1	+	3	1425	c.579G>A	c.(577-579)gtG>gtA	p.V193V	NTNG1_ENST00000370072.3_Silent_p.V193V|NTNG1_ENST00000370065.1_Silent_p.V193V|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370074.4_Silent_p.V193V|NTNG1_ENST00000542803.1_Silent_p.V193V|NTNG1_ENST00000370067.1_Silent_p.V193V|NTNG1_ENST00000370073.2_Silent_p.V193V|NTNG1_ENST00000370070.2_Silent_p.V193V|NTNG1_ENST00000370066.1_Silent_p.V193V|NTNG1_ENST00000370061.3_Silent_p.V193V|NTNG1_ENST00000370071.2_Silent_p.V193V			Q9Y2I2	NTNG1_HUMAN	netrin G1	193	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAAATCCGTGAAGGATTTAT	0.398																																						uc001dvh.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(577-579)GTG>GTA		netrin G1 isoform 1							86.0	83.0	84.0					1																	107867236		2203	4300	6503	SO:0001819	synonymous_variant	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867236G>A	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.579G>A	1.37:g.107867236G>A						NTNG1_uc001dvf.3_Silent_p.V193V|NTNG1_uc010out.1_Silent_p.V193V|NTNG1_uc001dvc.3_Silent_p.V193V|NTNG1_uc001dvd.1_Silent_p.V193V	p.V193V	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1297	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	193			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	ENST00000370068.1	37	c.579G>A	CCDS44180.1																																																																																				0.398	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1		NM_014917		6	15	0	0	0	0.001168	0	6	15		
RBM15	64783	broad.mit.edu	37	1	110882179	110882179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:110882179C>A	ENST00000369784.3	+	1	1052	c.152C>A	c.(151-153)tCg>tAg	p.S51*	RBM15_ENST00000602849.1_Nonsense_Mutation_p.S51*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.S51*|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	51					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)		AAAGAGCGCTCGCCAGTGAAG	0.647			T	MKL1	acute megakaryocytic leukemia																																	uc001dzl.1		NaN		Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(151-153)TCG>TAG		RNA binding motif protein 15							33.0	36.0	35.0					1																	110882179		2203	4300	6503	SO:0001587	stop_gained	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110882179C>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.152C>A	1.37:g.110882179C>A	ENSP00000358799:p.Ser51*					RBM15_uc001dzm.1_Nonsense_Mutation_p.S51*|uc001dzj.2_5'Flank	p.S51*	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	235	+		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)	51					A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Nonsense_Mutation	SNP	ENST00000369784.3	37	c.152C>A	CCDS822.1	.	.	.	.	.	.	.	.	.	.	C	46	12.390206	0.99663	.	.	ENSG00000162775	ENST00000369784	.	.	.	5.3	5.3	0.74995	.	0.000000	0.41500	D	0.000870	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0754	18.7341	0.91748	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000358799:S51X	S	+	2	0	RBM15	110683702	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.815000	0.75242	2.759000	0.94783	0.650000	0.86243	TCG		0.647	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2		NM_022768		13	54	1	0	0.00185496	0.016723	0.00234132	13	54		
SLC16A1	6566	broad.mit.edu	37	1	113460090	113460090	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:113460090C>A	ENST00000538576.1	-	4	1769	c.938G>T	c.(937-939)cGa>cTa	p.R313L	SLC16A1_ENST00000369626.3_Missense_Mutation_p.R313L|SLC16A1_ENST00000433570.4_Missense_Mutation_p.R313L	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	313					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CATAGATGGTCGGGCTACCAT	0.433																																						uc001ecx.2		NaN																	0				central_nervous_system(1)	1						c.(937-939)CGA>CTA		solute carrier family 16, member 1	Pyruvic acid(DB00119)						58.0	52.0	54.0					1																	113460090		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460090C>A	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.938G>T	1.37:g.113460090C>A	ENSP00000441065:p.Arg313Leu					SLC16A1_uc001ecy.2_Missense_Mutation_p.R313L|SLC16A1_uc001ecz.2_Missense_Mutation_p.R313L	p.R313L	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1770	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	313			Helical; (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.938G>T	CCDS858.1	.	.	.	.	.	.	.	.	.	.	C	33	5.234673	0.95207	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	H	0.96748	3.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94808	0.7976	10	0.87932	D	0	.	19.4915	0.95052	0.0:1.0:0.0:0.0	.	313;313	Q49A45;P53985	.;MOT1_HUMAN	L	313	ENSP00000358640:R313L;ENSP00000441065:R313L;ENSP00000416167:R313L;ENSP00000445061:R313L	ENSP00000358640:R313L	R	-	2	0	SLC16A1	113261613	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.767000	0.85331	2.771000	0.95319	0.563000	0.77884	CGA		0.433	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1		NM_003051		6	29	1	0	3.59834e-05	0.001168	4.64808e-05	6	29		
CD2	914	broad.mit.edu	37	1	117297379	117297379	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:117297379C>G	ENST00000369478.3	+	2	296	c.188C>G	c.(187-189)tCa>tGa	p.S63*	CD2_ENST00000369477.1_Nonsense_Mutation_p.S63*	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	63	Ig-like V-type.|LFA-3 (CD58) binding region 1.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAAAAAACTTCAGACAAGAAA	0.348																																					NSCLC(14;263 555 26380 43512 51332)	uc001egu.3		NaN																	0				breast(1)	1						c.(187-189)TCA>TGA		CD2 molecule precursor	Alefacept(DB00092)						53.0	55.0	54.0					1																	117297379		2202	4299	6501	SO:0001587	stop_gained	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297379C>G	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.188C>G	1.37:g.117297379C>G	ENSP00000358490:p.Ser63*					CD2_uc010owz.1_Nonsense_Mutation_p.S63*|CD2_uc010oxa.1_Nonsense_Mutation_p.S63*	p.S63*	NM_001767	NP_001758	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	2	217	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	63			Extracellular (Potential).|LFA-3 (CD58) binding region 1.|Ig-like V-type.		Q96TE5	Nonsense_Mutation	SNP	ENST00000369478.3	37	c.188C>G	CCDS889.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749052	0.30955	.	.	ENSG00000116824	ENST00000369478;ENST00000369477	.	.	.	0.764	0.764	0.18465	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.8284	0.13428	0.0:1.0:0.0:0.0	.	.	.	.	X	63	.	ENSP00000358489:S63X	S	+	2	0	CD2	117098902	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.194000	0.17135	0.697000	0.31718	0.563000	0.77884	TCA		0.348	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2		NM_001767		7	66	0	0	0	0.001984	0	7	66		
ACP6	51205	broad.mit.edu	37	1	147126339	147126339	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:147126339G>T	ENST00000369238.6	-	6	1197	c.750C>A	c.(748-750)ttC>ttA	p.F250L	ACP6_ENST00000392988.2_Missense_Mutation_p.F250L	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	250					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					CCAGGAGGATGAAGAAGTCCA	0.557																																						uc001epr.2		NaN																	0				ovary(4)	4						c.(748-750)TTC>TTA		acid phosphatase 6, lysophosphatidic precursor							152.0	124.0	133.0					1																	147126339		2203	4300	6503	SO:0001583	missense	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147126339G>T	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.750C>A	1.37:g.147126339G>T	ENSP00000358241:p.Phe250Leu					ACP6_uc009wjj.1_Missense_Mutation_p.F207L	p.F250L	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			6	1214	-	all_hematologic(923;0.0276)		250					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.750C>A	CCDS928.1	.	.	.	.	.	.	.	.	.	.	G	1.522	-0.546731	0.04024	.	.	ENSG00000162836	ENST00000369238;ENST00000392988	T;T	0.28255	1.62;1.62	5.59	0.231	0.15377	.	0.445973	0.27323	N	0.019889	T	0.04363	0.0120	N	0.20807	0.61	0.09310	N	0.999995	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.43523	-0.9386	10	0.11182	T	0.66	.	6.2625	0.20907	0.456:0.1255:0.4185:0.0	.	250;250	Q9NPH0-2;Q9NPH0	.;PPA6_HUMAN	L	250	ENSP00000358241:F250L;ENSP00000376714:F250L	ENSP00000358241:F250L	F	-	3	2	ACP6	145592963	0.986000	0.35501	0.003000	0.11579	0.069000	0.16628	1.087000	0.30865	0.023000	0.15187	0.655000	0.94253	TTC		0.557	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2		NM_016361		7	128	1	0	8.12818e-05	0.001984	0.000104505	7	128		
RPRD2	23248	broad.mit.edu	37	1	150444194	150444194	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:150444194G>A	ENST00000369068.4	+	11	2774	c.2770G>A	c.(2770-2772)Ggg>Agg	p.G924R	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.G898R|RPRD2_ENST00000539519.1_Missense_Mutation_p.G898R	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	924	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.G924W(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATGAACCTGGGTCTGACCG	0.502																																						uc009wlr.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2770-2772)GGG>AGG		Regulation of nuclear pre-mRNA domain containing							220.0	221.0	220.0					1																	150444194		2034	4184	6218	SO:0001583	missense	23248						protein binding	g.chr1:150444194G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2770G>A	1.37:g.150444194G>A	ENSP00000358064:p.Gly924Arg					RPRD2_uc010pcc.1_Missense_Mutation_p.G898R|RPRD2_uc001eup.3_Missense_Mutation_p.G898R	p.G924R	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	2971	+			924			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2770G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845452	0.32606	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.51574	0.83;0.7;0.83	5.32	5.32	0.75619	.	0.246768	0.35739	N	0.003002	T	0.30324	0.0761	N	0.24115	0.695	0.24034	N	0.996108	P;P;P	0.48016	0.718;0.845;0.904	B;P;P	0.51355	0.218;0.467;0.667	T	0.14952	-1.0454	10	0.66056	D	0.02	-8.1153	10.7302	0.46091	0.0726:0.134:0.7934:0.0	.	898;924;898	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	R	898;898;924	ENSP00000383785:G898R;ENSP00000445482:G898R;ENSP00000358064:G924R	ENSP00000358064:G924R	G	+	1	0	RPRD2	148710818	0.911000	0.30947	1.000000	0.80357	0.999000	0.98932	1.141000	0.31528	2.770000	0.95276	0.650000	0.86243	GGG		0.502	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1		NM_015203		81	288	0	0	0	0.01441	0	81	288		
MCL1	4170	broad.mit.edu	37	1	150551725	150551725	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:150551725C>G	ENST00000369026.2	-	1	341	c.282G>C	c.(280-282)gcG>gcC	p.A94A	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Silent_p.A94A	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	94					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAAGCAGCCTCGCGGGGGTCG	0.751																																						uc001euz.2		NaN																	0					0						c.(280-282)GCG>GCC		myeloid cell leukemia sequence 1 isoform 1							4.0	5.0	5.0					1																	150551725		1680	3670	5350	SO:0001819	synonymous_variant	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551725C>G	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.282G>C	1.37:g.150551725C>G						MCL1_uc010pch.1_5'UTR|MCL1_uc001eva.2_Silent_p.A94A	p.A94A	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	412	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		94					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Silent	SNP	ENST00000369026.2	37	c.282G>C	CCDS957.1																																																																																				0.751	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1		NM_021960		5	14	0	0	0	0.00308	0	5	14		
FCER1A	2205	broad.mit.edu	37	1	159273962	159273962	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:159273962A>C	ENST00000368115.1	+	4	420	c.321A>C	c.(319-321)gaA>gaC	p.E107D	FCER1A_ENST00000368114.1_Missense_Mutation_p.E74D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	107	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGTACCTGGAAGTCTTCAGTG	0.403																																						uc001ftq.2		NaN																	0				lung(2)|skin(2)|prostate(1)	5						c.(319-321)GAA>GAC		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						71.0	70.0	70.0					1																	159273962		2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159273962A>C	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.321A>C	1.37:g.159273962A>C	ENSP00000357097:p.Glu107Asp						p.E107D	NM_002001	NP_001992	P12319	FCERA_HUMAN			4	420	+	all_hematologic(112;0.0429)		107			Extracellular (Potential).|Ig-like 1.			Missense_Mutation	SNP	ENST00000368115.1	37	c.321A>C	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.429090	0.25726	.	.	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.08193	3.12;3.12	4.7	-4.84	0.03151	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.657970	0.03165	N	0.169952	T	0.01189	0.0039	N	0.16233	0.39	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.44498	-0.9324	10	0.35671	T	0.21	.	1.4476	0.02367	0.2492:0.2579:0.0853:0.4076	.	107	P12319	FCERA_HUMAN	D	107;74	ENSP00000357097:E107D;ENSP00000357096:E74D	ENSP00000357096:E74D	E	+	3	2	FCER1A	157540586	0.000000	0.05858	0.000000	0.03702	0.773000	0.43773	-1.170000	0.03118	-0.660000	0.05352	0.460000	0.39030	GAA		0.403	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2		NM_002001		6	87	0	0	0	0.001984	0	6	87		
MPZ	4359	broad.mit.edu	37	1	161276626	161276626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:161276626C>T	ENST00000533357.1	-	3	386	c.320G>A	c.(319-321)tGg>tAg	p.W107*	MPZ_ENST00000360451.6_Nonsense_Mutation_p.W117*|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000336559.4_Nonsense_Mutation_p.W107*|MPZ_ENST00000526189.1_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	107	Ig-like V-type.				cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCATCCTTCCAGCGAGGGTC	0.517																																						uc001gaf.3		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(349-351)TGG>TAG		myelin protein zero							221.0	181.0	194.0					1																	161276626		2203	4300	6503	SO:0001587	stop_gained	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161276626C>T	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.320G>A	1.37:g.161276626C>T	ENSP00000432943:p.Trp107*					MPZ_uc010pko.1_RNA	p.W117*	NM_000530	NP_000521	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	387	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	107			Ig-like V-type.|Extracellular (Potential).		Q16072|Q5VTH4|Q92677|Q9BR67	Nonsense_Mutation	SNP	ENST00000533357.1	37	c.350G>A	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	C	37	6.189284	0.97362	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	.	.	.	4.7	4.7	0.59300	.	0.152300	0.47093	D	0.000260	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-5.6868	15.1787	0.72938	0.0:1.0:0.0:0.0	.	.	.	.	X	107;117;107	.	ENSP00000337777:W107X	W	-	2	0	MPZ	159543250	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	4.289000	0.59013	2.426000	0.82243	0.563000	0.77884	TGG		0.517	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2		NM_000530		54	478	0	0	0	0.01441	0	54	478		
SUCO	51430	broad.mit.edu	37	1	172526519	172526519	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:172526519T>A	ENST00000263688.3	+	5	762	c.543T>A	c.(541-543)gcT>gcA	p.A181A	SUCO_ENST00000610051.1_Silent_p.A144A|SUCO_ENST00000367723.4_Silent_p.A339A|SUCO_ENST00000608151.1_Silent_p.A340A	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	181					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATGCTAGTGCTCCAATTGAAC	0.433																																						uc001giq.3		NaN																	0				ovary(2)	2						c.(541-543)GCT>GCA		chromosome 1 open reading frame 9 protein							166.0	161.0	163.0					1																	172526519		2203	4300	6503	SO:0001819	synonymous_variant	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172526519T>A	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.543T>A	1.37:g.172526519T>A						C1orf9_uc010pmm.1_Silent_p.A181A|C1orf9_uc009wwd.2_Silent_p.A144A|C1orf9_uc010pmn.1_Silent_p.A144A|C1orf9_uc010pmo.1_RNA	p.A181A	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	5	859	+		Breast(1374;0.212)	181					B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.543T>A	CCDS1303.1																																																																																				0.433	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1		NM_016227		169	75	0	0	0	0.01441	0	169	75		
DARS2	55157	broad.mit.edu	37	1	173810010	173810010	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:173810010G>C	ENST00000361951.4	+	11	1754	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	343					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCAGATTATAGATATCAGTGA	0.323																																						uc001gjh.1		NaN																	0				central_nervous_system(2)	2						c.(1027-1029)GAT>CAT		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						85.0	84.0	85.0					1																	173810010		2203	4300	6503	SO:0001583	missense	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173810010G>C	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1027G>C	1.37:g.173810010G>C	ENSP00000355086:p.Asp343His						p.D343H	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			11	1437	+			343						Missense_Mutation	SNP	ENST00000361951.4	37	c.1027G>C	CCDS1311.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212661	0.79240	.	.	ENSG00000117593	ENST00000361951	T	0.80393	-1.37	5.47	5.47	0.80525	Aminoacyl-tRNA synthetase, class II (1);GAD domain (2);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.92335	0.7568	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94192	0.7442	10	0.87932	D	0	-19.0197	18.1181	0.89563	0.0:0.0:1.0:0.0	.	343	Q6PI48	SYDM_HUMAN	H	343	ENSP00000355086:D343H	ENSP00000355086:D343H	D	+	1	0	DARS2	172076633	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.203000	0.77864	2.584000	0.87258	0.585000	0.79938	GAT		0.323	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1		NM_018122		12	175	0	0	0	0.016723	0	12	175		
ASTN1	460	broad.mit.edu	37	1	176913088	176913088	+	Silent	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:176913088G>T	ENST00000367654.3	-	14	2551	c.2340C>A	c.(2338-2340)ccC>ccA	p.P780P	ASTN1_ENST00000361833.2_Silent_p.P772P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.P772P|ASTN1_ENST00000424564.2_Silent_p.P772P	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	780					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATTCTCCAGGGGCACAGTGG	0.512																																						uc001glc.2		NaN																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2314-2316)CCC>CCA		astrotactin isoform 1							122.0	108.0	113.0					1																	176913088		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176913088G>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2340C>A	1.37:g.176913088G>T						ASTN1_uc001glb.1_Silent_p.P772P|ASTN1_uc001gld.1_Silent_p.P772P|ASTN1_uc009wwx.1_Silent_p.P772P	p.P772P	NM_004319	NP_004310	O14525	ASTN1_HUMAN			14	2528	-			780					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.2316C>A																																																																																					0.512	ASTN1-201	KNOWN	basic	protein_coding	protein_coding			NM_004319		17	47	1	0	3.45872e-05	0.004007	4.48172e-05	17	47		
SOAT1	6646	broad.mit.edu	37	1	179310346	179310346	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:179310346C>T	ENST00000367619.3	+	7	824	c.681C>T	c.(679-681)ttC>ttT	p.F227F	SOAT1_ENST00000539888.1_Silent_p.F162F|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Silent_p.F169F	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	227					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCTTTCTTTTCATGATCTTCC	0.433																																						uc001gml.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(679-681)TTC>TTT		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						209.0	196.0	200.0					1																	179310346		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310346C>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.681C>T	1.37:g.179310346C>T						SOAT1_uc010pni.1_Silent_p.F162F|SOAT1_uc001gmm.2_Silent_p.F169F|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Silent_p.F162F	p.F227F	NM_003101	NP_003092	P35610	SOAT1_HUMAN			7	744	+			227					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.681C>T	CCDS1330.1																																																																																				0.433	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2		NM_003101		57	256	0	0	0	0.01441	0	57	256		
MR1	3140	broad.mit.edu	37	1	181018405	181018405	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:181018405C>G	ENST00000367580.5	+	2	290	c.285C>G	c.(283-285)ttC>ttG	p.F95L	MR1_ENST00000434571.2_Missense_Mutation_p.F95L|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.F95L|MR1_ENST00000282990.6_Missense_Mutation_p.F95L	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	95	Alpha-1.|Ligand-binding.				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)	AGCAGATGTTCAAGGTGGAAC	0.617																																					Colon(174;1412 1962 45296 46549 47110)	uc001goq.1		NaN																	0				skin(1)	1						c.(283-285)TTC>TTG		major histocompatibility complex, class							42.0	41.0	41.0					1																	181018405		2203	4300	6503	SO:0001583	missense	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.chr1:181018405C>G	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.285C>G	1.37:g.181018405C>G	ENSP00000356552:p.Phe95Leu					MR1_uc001gop.2_Missense_Mutation_p.F95L|MR1_uc001gor.1_Missense_Mutation_p.F95L|MR1_uc001gos.1_Missense_Mutation_p.F95L|MR1_uc010pns.1_Missense_Mutation_p.F95L	p.F95L	NM_001531	NP_001522	Q95460	HMR1_HUMAN			2	290	+			95			Extracellular (Potential).|Ligand-binding.|Alpha-1.		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	c.285C>G	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183148	0.57800	.	.	ENSG00000153029	ENST00000434571;ENST00000367580;ENST00000282990;ENST00000367579	T;T;T;D	0.89875	9.3;9.3;9.3;-2.58	3.99	3.07	0.35406	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.358862	0.25101	N	0.033140	D	0.91918	0.7441	M	0.75884	2.315	0.21740	N	0.999561	D;P;D;D;P	0.76494	0.979;0.942;0.998;0.999;0.891	D;P;D;D;P	0.79108	0.982;0.487;0.987;0.992;0.487	T	0.82212	-0.0569	10	0.33940	T	0.23	.	6.8884	0.24216	0.0:0.8757:0.0:0.1243	.	95;95;95;95;95	B4E3B1;Q95460-3;Q95460-2;Q95460;Q95460-4	.;.;.;HMR1_HUMAN;.	L	95	ENSP00000388504:F95L;ENSP00000356552:F95L;ENSP00000282990:F95L;ENSP00000356551:F95L	ENSP00000282990:F95L	F	+	3	2	MR1	179285028	0.096000	0.21769	0.023000	0.16930	0.095000	0.18619	1.116000	0.31221	2.239000	0.73571	0.479000	0.44913	TTC		0.617	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2		NM_001531		8	44	0	0	0	0.004482	0	8	44		
NCF2	4688	broad.mit.edu	37	1	183532431	183532431	+	Missense_Mutation	SNP	G	G	A	rs145970396		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:183532431G>A	ENST00000367535.3	-	13	1440	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000413720.1_Missense_Mutation_p.R352W|NCF2_ENST00000367536.1_Missense_Mutation_p.R397W|NCF2_ENST00000418089.1_Missense_Mutation_p.R316W	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	397	OPR.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TTGCTGTCCCGAGGCCGATAG	0.522																																						uc001gqj.3		NaN																	0				ovary(3)	3						c.(1189-1191)CGG>TGG		neutrophil cytosolic factor 2		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	111.0	107.0	108.0		1189,1189,946,1054	2.7	0.7	1	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	NCF2	NM_000433.3,NM_001127651.2,NM_001190789.1,NM_001190794.1	101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	397/527,397/527,316/446,352/482	183532431	1,13005	2203	4300	6503	SO:0001583	missense	4688				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding	g.chr1:183532431G>A	BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.1189C>T	1.37:g.183532431G>A	ENSP00000356505:p.Arg397Trp					NCF2_uc010pod.1_Missense_Mutation_p.R352W|NCF2_uc010poe.1_Missense_Mutation_p.R316W|NCF2_uc001gqk.3_Missense_Mutation_p.R397W	p.R397W	NM_000433	NP_000424	P19878	NCF2_HUMAN			13	1464	-			397			OPR.		B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Missense_Mutation	SNP	ENST00000367535.3	37	c.1189C>T	CCDS1356.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619676	0.66787	0.0	1.16E-4	ENSG00000116701	ENST00000367536;ENST00000392014;ENST00000413720;ENST00000418089;ENST00000367535;ENST00000420553;ENST00000419402	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.7	2.67	0.31697	Phox/Bem1p (2);	0.862906	0.09986	N	0.730408	T	0.37652	0.1011	M	0.63428	1.95	0.09310	N	1	D;D;D	0.63046	0.983;0.992;0.989	P;P;P	0.53549	0.545;0.729;0.72	T	0.15407	-1.0438	10	0.66056	D	0.02	-24.0848	8.1999	0.31419	0.0:0.4106:0.3519:0.2376	.	316;352;397	E9PHJ2;E9PHX3;P19878	.;.;NCF2_HUMAN	W	397;469;352;316;397;48;136	ENSP00000356506:R397W;ENSP00000399294:R352W;ENSP00000407217:R316W;ENSP00000356505:R397W;ENSP00000397228:R48W;ENSP00000406198:R136W	ENSP00000356505:R397W	R	-	1	2	NCF2	181799054	0.006000	0.16342	0.679000	0.29978	0.942000	0.58702	0.089000	0.15002	0.742000	0.32697	0.555000	0.69702	CGG		0.522	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085483.1		NM_000433		31	104	0	0	0	0.010818	0	31	104		
CAMSAP2	23271	broad.mit.edu	37	1	200824006	200824006	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:200824006G>C	ENST00000236925.4	+	15	3967	c.3918G>C	c.(3916-3918)aaG>aaC	p.K1306N	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.K1279N|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.K1295N			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1306					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										ATTCAGGCAAGAGGACGCCAA	0.343																																						uc001gvl.2		NaN																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(3916-3918)AAG>AAC		calmodulin regulated spectrin-associated protein							83.0	79.0	81.0					1																	200824006		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200824006G>C	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3918G>C	1.37:g.200824006G>C	ENSP00000236925:p.Lys1306Asn					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.K1295N|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.K1279N	p.K1306N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			15	4188	+			1306					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.3918G>C		.	.	.	.	.	.	.	.	.	.	G	22.6	4.315755	0.81469	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.16324	2.35;2.37;2.36	5.93	5.01	0.66863	.	0.105006	0.64402	D	0.000001	T	0.25865	0.0630	L	0.35723	1.085	0.58432	D	0.999999	P;P;P	0.49783	0.928;0.882;0.928	P;P;P	0.60789	0.879;0.694;0.879	T	0.02450	-1.1157	10	0.22109	T	0.4	-23.2705	11.4592	0.50199	0.139:0.0:0.861:0.0	.	1279;1306;1295	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	N	1295;1279;1306	ENSP00000351684:K1295N;ENSP00000416800:K1279N;ENSP00000236925:K1306N	ENSP00000236925:K1306N	K	+	3	2	CAMSAP1L1	199090629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.851000	0.55926	1.493000	0.48517	0.563000	0.77884	AAG		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2		NM_203459		6	21	0	0	0	0.001168	0	6	21		
ATP2B4	493	broad.mit.edu	37	1	203678495	203678495	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:203678495T>G	ENST00000357681.5	+	11	2747	c.1624T>G	c.(1624-1626)Ttt>Gtt	p.F542V	ATP2B4_ENST00000367218.3_Missense_Mutation_p.F542V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.F542V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.F530V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.F542V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	542					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTGCTAGGCTTTGTCACAGA	0.512																																						uc001gzw.2		NaN																	0				ovary(2)|skin(1)	3						c.(1624-1626)TTT>GTT		plasma membrane calcium ATPase 4 isoform 4b							99.0	90.0	93.0					1																	203678495		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203678495T>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1624T>G	1.37:g.203678495T>G	ENSP00000350310:p.Phe542Val					ATP2B4_uc001gzv.2_Missense_Mutation_p.F542V|ATP2B4_uc009xaq.2_Missense_Mutation_p.F542V	p.F542V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2508	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		542			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1624T>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290670	0.80914	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.52	5.52	0.82312	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.53938	D	0.000042	D	0.83036	0.5167	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.69078	0.997;0.989;0.994	D;D;D	0.80764	0.994;0.915;0.985	D	0.85204	0.1017	10	0.87932	D	0	-18.6712	15.3051	0.73987	0.0:0.0:0.0:1.0	.	542;542;542	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	542;542;530;542;542	ENSP00000350310:F542V;ENSP00000356187:F542V;ENSP00000356188:F530V;ENSP00000375816:F542V;ENSP00000340930:F542V	ENSP00000340930:F542V	F	+	1	0	ATP2B4	201945118	0.989000	0.36119	1.000000	0.80357	0.951000	0.60555	2.317000	0.43770	2.094000	0.63399	0.460000	0.39030	TTT		0.512	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1		NM_001001396		46	84	0	0	0	0.013114	0	46	84		
FCAMR	83953	broad.mit.edu	37	1	207135777	207135777	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207135777G>A	ENST00000324852.4	-	5	907	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	FCAMR_ENST00000400962.3_Silent_p.L145L|FCAMR_ENST00000450945.2_Silent_p.L145L|FCAMR_ENST00000486178.1_5'Flank	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	100	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGGGCCCCAGACGGCACCAG	0.577																																					Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.3		NaN																	0				ovary(1)	1						c.(433-435)CTG>TTG		Fc receptor, IgA, IgM, high affinity isoform 2							57.0	55.0	55.0					1																	207135777		1568	3582	5150	SO:0001819	synonymous_variant	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207135777G>A	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.433C>T	1.37:g.207135777G>A						FCAMR_uc001hfb.2_Silent_p.L145L|FCAMR_uc009xca.1_Silent_p.L145L|FCAMR_uc001hfc.2_Silent_p.L120L	p.L145L	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN			5	933	-			100			Extracellular (Potential).|Ig-like V-type.		Q32M82|Q8WWV5|Q96SA2	Silent	SNP	ENST00000324852.4	37	c.433C>T	CCDS53468.1																																																																																				0.577	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2		NM_032029		15	61	0	0	0	0.004007	0	15	61		
C4BPA	722	broad.mit.edu	37	1	207286412	207286412	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207286412A>C	ENST00000367070.3	+	2	236	c.42A>C	c.(40-42)aaA>aaC	p.K14N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	14					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTCATAGAAAAAGGAAAATGG	0.463																																						uc001hfo.2		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(40-42)AAA>AAC		complement component 4 binding protein, alpha							71.0	73.0	72.0					1																	207286412		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207286412A>C	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.42A>C	1.37:g.207286412A>C	ENSP00000356037:p.Lys14Asn						p.K14N	NM_000715	NP_000706	P04003	C4BPA_HUMAN			2	236	+			14					Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.42A>C	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	A	9.144	1.014509	0.19277	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.32988	1.43;1.75	4.88	-0.778	0.10977	.	0.524814	0.17530	N	0.170909	T	0.12774	0.0310	L	0.33753	1.03	0.09310	N	1	B	0.32829	0.386	B	0.24269	0.052	T	0.16867	-1.0388	10	0.13108	T	0.6	.	0.7295	0.00955	0.3228:0.1709:0.3439:0.1624	.	14	P04003	C4BPA_HUMAN	N	14	ENSP00000356037:K14N;ENSP00000403386:K14N	ENSP00000356037:K14N	K	+	3	2	C4BPA	205353035	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.081000	0.11321	-0.209000	0.10156	0.460000	0.39030	AAA		0.463	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3				27	29	0	0	0	0.005443	0	27	29		
CD34	947	broad.mit.edu	37	1	208072532	208072532	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:208072532G>C	ENST00000310833.7	-	3	623	c.302C>G	c.(301-303)tCa>tGa	p.S101*	CD34_ENST00000485761.1_5'Flank|CD34_ENST00000537704.1_Intron|CD34_ENST00000356522.4_Nonsense_Mutation_p.S101*	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	101					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TCCATAAACTGAGGTTATCAC	0.448																																						uc001hgw.1		NaN																	0				ovary(1)	1						c.(301-303)TCA>TGA		CD34 antigen isoform a							223.0	202.0	209.0					1																	208072532		2203	4300	6503	SO:0001587	stop_gained	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208072532G>C	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.302C>G	1.37:g.208072532G>C	ENSP00000310036:p.Ser101*					CD34_uc001hgx.1_Nonsense_Mutation_p.S101*|CD34_uc010psj.1_Intron	p.S101*	NM_001025109	NP_001020280	P28906	CD34_HUMAN			3	560	-			101			Extracellular (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Nonsense_Mutation	SNP	ENST00000310833.7	37	c.302C>G	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	36	5.862843	0.97036	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367037	.	.	.	4.51	-0.617	0.11579	.	1.885200	0.02121	N	0.055625	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1369	3.3594	0.07181	0.395:0.0:0.4259:0.1792	.	.	.	.	X	101;101;71	.	.	S	-	2	0	CD34	206139155	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.494000	0.06451	0.009000	0.14813	0.655000	0.94253	TCA		0.448	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1		NM_001773		28	191	0	0	0	0.007291	0	28	191		
USH2A	7399	broad.mit.edu	37	1	216052273	216052273	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:216052273T>A	ENST00000307340.3	-	42	8777	c.8391A>T	c.(8389-8391)tcA>tcT	p.S2797S	USH2A_ENST00000366943.2_Silent_p.S2797S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2797	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			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)		CATTACCCCCTGAGCAAGCAA	0.448										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(8389-8391)TCA>TCT		usherin isoform B							182.0	170.0	174.0					1																	216052273		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:216052273T>A	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.8391A>T	1.37:g.216052273T>A		HNSCC(13;0.011)					p.S2797S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8778	-			2797			Fibronectin type-III 14.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.8391A>T	CCDS31025.1																																																																																				0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		10	53	0	0	0	0.010729	0	10	53		
TP53BP2	7159	broad.mit.edu	37	1	223976866	223976866	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:223976866G>A	ENST00000343537.7	-	16	3298	c.3007C>T	c.(3007-3009)Cat>Tat	p.H1003Y	TP53BP2_ENST00000391879.2_Missense_Mutation_p.H236Y|TP53BP2_ENST00000391878.2_Missense_Mutation_p.H874Y|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	997	Mediates interaction with APC2.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCAGCACAATGTAATGGAGTC	0.458																																						uc010pvb.1		NaN																	0				ovary(2)|lung(1)	3						c.(3007-3009)CAT>TAT		tumor protein p53 binding protein, 2 isoform 1							119.0	109.0	112.0					1																	223976866		2203	4300	6503	SO:0001583	missense	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223976866G>A	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.3007C>T	1.37:g.223976866G>A	ENSP00000341957:p.His1003Tyr					TP53BP2_uc001hod.2_Missense_Mutation_p.H874Y|TP53BP2_uc010puz.1_Missense_Mutation_p.H236Y|TP53BP2_uc010pva.1_Missense_Mutation_p.H642Y	p.H1003Y	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	16	3299	-			997			ANK 2.|Mediates interaction with APC2.		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	c.3007C>T	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949914	0.92660	.	.	ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879	T;T;T	0.71103	-0.54;-0.54;-0.54	5.74	5.74	0.90152	Src homology-3 domain (1);Ankyrin repeat-containing domain (3);	0.086033	0.85682	D	0.000000	D	0.86748	0.6007	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87940	0.2716	10	0.87932	D	0	.	19.9151	0.97057	0.0:0.0:1.0:0.0	.	1003;997	B4DG66;Q13625	.;ASPP2_HUMAN	Y	874;1003;236	ENSP00000375750:H874Y;ENSP00000341957:H1003Y;ENSP00000375751:H236Y	ENSP00000341957:H1003Y	H	-	1	0	TP53BP2	222043489	1.000000	0.71417	0.298000	0.25002	0.765000	0.43378	9.835000	0.99442	2.716000	0.92895	0.591000	0.81541	CAT		0.458	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426		19	88	0	0	0	0.012319	0	19	88		
SIPA1L2	57568	broad.mit.edu	37	1	232596869	232596869	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:232596869C>T	ENST00000366630.1	-	9	3217	c.2859G>A	c.(2857-2859)ctG>ctA	p.L953L	SIPA1L2_ENST00000262861.4_Silent_p.L953L|SIPA1L2_ENST00000308942.4_Silent_p.L27L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	953	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGTTCCTCCTCAGGGTCATTT	0.562																																						uc001hvg.2		NaN																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2857-2859)CTG>CTA		signal-induced proliferation-associated 1 like							126.0	133.0	131.0					1																	232596869		2109	4260	6369	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232596869C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2859G>A	1.37:g.232596869C>T						SIPA1L2_uc001hvf.2_Silent_p.L27L	p.L953L	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			8	3017	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	953			PDZ.		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2859G>A	CCDS41474.1																																																																																				0.562	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839		93	199	0	0	0	0.01441	0	93	199		
SLC35F3	148641	broad.mit.edu	37	1	234452365	234452365	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:234452365C>T	ENST00000366617.3	+	4	867	c.639C>T	c.(637-639)ctC>ctT	p.L213L	SLC35F3_ENST00000366618.3_Silent_p.L282L			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	213					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CCGCCATCCTCGCCATCGCTG	0.577																																						uc001hwa.1		NaN																	0				ovary(2)	2						c.(637-639)CTC>CTT		solute carrier family 35, member F3							272.0	267.0	268.0					1																	234452365		2203	4300	6503	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234452365C>T		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.639C>T	1.37:g.234452365C>T						SLC35F3_uc001hvy.1_Silent_p.L282L	p.L213L	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		4	867	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	213			Helical; (Potential).		Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366617.3	37	c.639C>T																																																																																					0.577	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000128322.1		NM_173508		228	429	0	0	0	0.01441	0	228	429		
PLD5	200150	broad.mit.edu	37	1	242383316	242383316	+	Missense_Mutation	SNP	C	C	A	rs552058954	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:242383316C>A	ENST00000536534.2	-	5	950	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C	PLD5_ENST00000427495.1_Missense_Mutation_p.G175C|PLD5_ENST00000442594.2_Missense_Mutation_p.G145C			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	237	PLD phosphodiesterase 1.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAGTCCAAACCGGCACTGCCG	0.517																																						uc001hzn.1		NaN																	0				ovary(6)	6						c.(709-711)GGT>TGT		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							114.0	98.0	103.0					1																	242383316		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242383316C>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.709G>T	1.37:g.242383316C>A	ENSP00000440896:p.Gly237Cys					PLD5_uc001hzl.3_Missense_Mutation_p.G175C|PLD5_uc001hzm.3_Missense_Mutation_p.G27C|PLD5_uc001hzo.1_Missense_Mutation_p.G145C	p.G237C			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	836	-	Melanoma(84;0.242)		237			PLD phosphodiesterase 1.		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.709G>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084149	0.55861	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.13778	2.56;2.56;2.56	5.58	-1.11	0.09840	Phospholipase D/Transphosphatidylase (1);	0.233267	0.48286	D	0.000186	T	0.15739	0.0379	N	0.22421	0.69	0.26533	N	0.974214	D;D;D	0.65815	0.995;0.975;0.995	P;P;P	0.60949	0.881;0.571;0.667	T	0.08827	-1.0703	10	0.87932	D	0	-2.9252	8.6192	0.33851	0.0:0.348:0.0:0.652	.	145;237;175	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	C	175;145;237	ENSP00000401285:G175C;ENSP00000414188:G145C;ENSP00000440896:G237C	ENSP00000401285:G175C	G	-	1	0	PLD5	240449939	0.119000	0.22226	0.141000	0.22245	0.912000	0.54170	0.959000	0.29240	-0.136000	0.11475	-0.136000	0.14681	GGT		0.517	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2		NM_152666		5	43	1	0	0.000602214	0.014758	0.000762437	5	43		
ZNF124	7678	broad.mit.edu	37	1	247323035	247323035	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:247323035G>C	ENST00000543802.2	-	2	200	c.111C>G	c.(109-111)ctC>ctG	p.L37L	ZNF124_ENST00000472531.1_Silent_p.L37L|ZNF124_ENST00000340684.6_Silent_p.L37L|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000491356.1_Silent_p.L37L			Q15973	ZN124_HUMAN	zinc finger protein 124	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			CGTCTCTATAGAGATTCTTCT	0.418																																						uc001ick.2		NaN																	0				breast(1)	1						c.(109-111)CTC>CTG		zinc finger protein 124							109.0	109.0	109.0					1																	247323035		2203	4300	6503	SO:0001819	synonymous_variant	7678				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:247323035G>C	S54641	CCDS31089.1, CCDS58067.1, CCDS73057.1	1q44	2013-01-08	2006-06-13		ENSG00000196418	ENSG00000196418		"""Zinc fingers, C2H2-type"", ""-"""	12907	protein-coding gene	gene with protein product		194631	"""zinc finger protein 124 (HZF-16)"""			7916577	Standard	XM_005273256		Approved	HZF16, HZF-16	uc001icj.1	Q15973	OTTHUMG00000041112	ENST00000543802.2:c.111C>G	1.37:g.247323035G>C						ZNF124_uc001ici.2_RNA|ZNF124_uc001icj.1_Silent_p.L37L	p.L37L	NM_003431	NP_003422	Q15973	ZN124_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00739)		2	250	-	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		37			KRAB.		B3KNP3|J3KSE1|Q15974|Q4VAJ7|Q5T2V4	Silent	SNP	ENST00000543802.2	37	c.111C>G																																																																																					0.418	ZNF124-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000447393.1		NM_003431		33	61	0	0	0	0.013726	0	33	61		
OR2AK2	391191	broad.mit.edu	37	1	248129260	248129260	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:248129260G>A	ENST00000366480.3	+	1	726	c.627G>A	c.(625-627)caG>caA	p.Q209Q	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACACCTCCCAGTATGAGTATA	0.443																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NaN																	0				ovary(1)|breast(1)	2						c.(625-627)CAG>CAA		olfactory receptor, family 2, subfamily AK,							87.0	74.0	78.0					1																	248129260		2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129260G>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.627G>A	1.37:g.248129260G>A						OR2L13_uc001ids.2_Intron	p.Q209Q	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	627	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		209			Extracellular (Potential).		B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.627G>A	CCDS31102.1																																																																																				0.443	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2		NM_001004491		17	28	0	0	0	0.004007	0	17	28		
MAPK8	5599	broad.mit.edu	37	10	49633979	49633979	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:49633979C>G	ENST00000374189.1	+	8	918	c.737C>G	c.(736-738)cCt>cGt	p.P246R	MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Missense_Mutation_p.P246R|MAPK8_ENST00000360332.3_Missense_Mutation_p.P246R			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		ACACCATGTCCTGAATTCATG	0.343																																						uc009xnz.2		NaN																	0				central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8						c.(736-738)CCT>CGT		mitogen-activated protein kinase 8 isoform JNK1							123.0	112.0	116.0					10																	49633979		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49633979C>G	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.737C>G	10.37:g.49633979C>G	ENSP00000363304:p.Pro246Arg					MAPK8_uc001jgl.2_Missense_Mutation_p.P246R|MAPK8_uc001jgm.2_Missense_Mutation_p.P246R|MAPK8_uc001jgo.2_Missense_Mutation_p.P246R|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Missense_Mutation_p.P246R|MAPK8_uc010qgk.1_Missense_Mutation_p.P246R|MAPK8_uc001jgp.2_Missense_Mutation_p.P246R|MAPK8_uc001jgq.2_Missense_Mutation_p.P246R	p.P246R	NM_139047	NP_620635	P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	8	961	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	246			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.737C>G	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080878	0.55753	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051006	0.85682	D	0.000000	T	0.55016	0.1894	L	0.28649	0.875	0.80722	D	1	B;B;B;B	0.14012	0.0;0.002;0.005;0.009	B;B;B;B	0.14023	0.002;0.007;0.007;0.01	T	0.46317	-0.9200	10	0.44086	T	0.13	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	246;246;246;246	P45983-2;P45983;A1L4K2;P45983-3	.;MK08_HUMAN;.;.	R	246	ENSP00000363304:P246R;ENSP00000363297:P246R;ENSP00000363294:P246R;ENSP00000353483:P246R;ENSP00000363291:P246R	ENSP00000353483:P246R	P	+	2	0	MAPK8	49303985	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.962000	0.70364	2.861000	0.98227	0.655000	0.94253	CCT		0.343	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1				13	18	0	0	0	0.020292	0	13	18		
CTNNA3	29119	broad.mit.edu	37	10	67829226	67829226	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:67829226C>T	ENST00000433211.2	-	15	2173	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E667K|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTTTCTGCCTCAGGCAGTTGA	0.348																																						uc009xpn.1		NaN																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1999-2001)GAG>AAG		catenin, alpha 3							151.0	134.0	140.0					10																	67829226		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67829226C>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1999G>A	10.37:g.67829226C>T	ENSP00000389714:p.Glu667Lys					CTNNA3_uc001jmw.2_Missense_Mutation_p.E667K	p.E667K	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			15	2122	-			667						Missense_Mutation	SNP	ENST00000433211.2	37	c.1999G>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706686	0.89018	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.60171	0.21;0.21;0.21	5.29	5.29	0.74685	.	0.118364	0.36932	N	0.002330	T	0.60881	0.2303	M	0.84219	2.685	0.80722	D	1	B	0.33000	0.393	B	0.35182	0.197	T	0.60875	-0.7176	10	0.30854	T	0.27	-11.3366	12.1968	0.54303	0.0:0.828:0.172:0.0	.	667	Q9UI47	CTNA3_HUMAN	K	667;667;6	ENSP00000389714:E667K;ENSP00000362849:E667K;ENSP00000362840:E6K	ENSP00000362840:E6K	E	-	1	0	CTNNA3	67499232	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.926000	0.56491	2.483000	0.83821	0.591000	0.81541	GAG		0.348	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2		NM_013266		6	34	0	0	0	0.001984	0	6	34		
HNRNPH3	3189	broad.mit.edu	37	10	70099239	70099239	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:70099239C>T	ENST00000265866.7	+	6	731	c.566C>T	c.(565-567)tCa>tTa	p.S189L	HNRNPH3_ENST00000441000.2_Missense_Mutation_p.S81L|HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Missense_Mutation_p.S174L	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	189	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GATGCAAGTTCAGGTTTTCAT	0.378																																						uc001jnw.3		NaN																	0				ovary(2)	2						c.(565-567)TCA>TTA		heterogeneous nuclear ribonucleoprotein H3							224.0	190.0	201.0					10																	70099239		2203	4300	6503	SO:0001583	missense	3189				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding	g.chr10:70099239C>T		CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.566C>T	10.37:g.70099239C>T	ENSP00000265866:p.Ser189Leu					HNRNPH3_uc001jnx.3_Missense_Mutation_p.S174L|HNRNPH3_uc009xpu.2_Missense_Mutation_p.S58L|HNRNPH3_uc010qiv.1_Missense_Mutation_p.S81L|HNRNPH3_uc001jny.3_Missense_Mutation_p.S140L	p.S189L	NM_012207	NP_036339	P31942	HNRH3_HUMAN			6	795	+			189			Gly-rich.		A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Missense_Mutation	SNP	ENST00000265866.7	37	c.566C>T	CCDS7278.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895122	0.72639	.	.	ENSG00000096746	ENST00000265866;ENST00000441000;ENST00000354695	T;T;T	0.29397	1.57;1.57;1.57	5.95	5.95	0.96441	.	0.385621	0.28247	N	0.016056	T	0.39253	0.1071	N	0.22421	0.69	0.58432	D	0.999998	B;P;P	0.43662	0.131;0.814;0.801	B;P;B	0.58391	0.026;0.838;0.34	T	0.02371	-1.1169	10	0.10636	T	0.68	.	20.3719	0.98893	0.0:1.0:0.0:0.0	.	81;174;189	B4DHY1;P31942-2;P31942	.;.;HNRH3_HUMAN	L	189;81;174	ENSP00000265866:S189L;ENSP00000409869:S81L;ENSP00000346726:S174L	ENSP00000265866:S189L	S	+	2	0	HNRNPH3	69769245	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.459000	0.80802	2.826000	0.97356	0.491000	0.48974	TCA		0.378	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090165.1				17	35	0	0	0	0.006122	0	17	35		
ADAMTS14	140766	broad.mit.edu	37	10	72520585	72520585	+	Silent	SNP	C	C	T	rs200606378		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:72520585C>T	ENST00000373207.1	+	22	3648	c.3648C>T	c.(3646-3648)ctC>ctT	p.L1216L	ADAMTS14_ENST00000373208.1_Silent_p.L1219L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1216	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GCACCAGCCTCCCTGCTGCCT	0.637																																						uc001jrh.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(3646-3648)CTC>CTT		ADAM metallopeptidase with thrombospondin type 1		C	,	0,4406		0,0,2203	50.0	47.0	48.0		3648,3657	-8.7	0.0	10		48	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ADAMTS14	NM_080722.3,NM_139155.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1216/1224,1219/1227	72520585	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72520585C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3648C>T	10.37:g.72520585C>T						ADAMTS14_uc001jrg.2_Silent_p.L1219L	p.L1216L	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			22	3648	+			1216			Pro-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.3648C>T	CCDS7306.1																																																																																				0.637	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722		18	23	0	0	0	0.006122	0	18	23		
CDH23	64072	broad.mit.edu	37	10	73567089	73567089	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:73567089C>T	ENST00000224721.6	+	57	8254	c.8249C>T	c.(8248-8250)aCc>aTc	p.T2750I	CDH23_ENST00000398788.3_Missense_Mutation_p.T505I|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2745	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCACGCGGCACCCTCGTGGGC	0.627																																						uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(8233-8235)ACC>ATC		cadherin-like 23 isoform 1 precursor							38.0	44.0	42.0					10																	73567089		2104	4230	6334	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73567089C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8249C>T	10.37:g.73567089C>T	ENSP00000224721:p.Thr2750Ile					CDH23_uc001jsg.3_Missense_Mutation_p.T505I|CDH23_uc001jsh.3_Missense_Mutation_p.T505I|CDH23_uc001jsi.3_Missense_Mutation_p.T505I	p.T2745I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			56	8611	+			2745			Cadherin 26.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8234C>T		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808294	0.90707	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.58210	0.35	4.77	4.77	0.60923	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82155	-0.0597	10	0.62326	D	0.03	.	17.96	0.89082	0.0:1.0:0.0:0.0	.	2745;2745	E9PEX1;Q9H251	.;CAD23_HUMAN	I	2750;2745;2748;505	ENSP00000381768:T505I	ENSP00000224721:T2750I	T	+	2	0	CDH23	73237095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.619000	0.83057	2.484000	0.83849	0.551000	0.68910	ACC		0.627	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836		16	17	0	0	0	0.003163	0	16	17		
KIF20B	9585	broad.mit.edu	37	10	91477195	91477195	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:91477195C>G	ENST00000371728.3	+	10	1132	c.1067C>G	c.(1066-1068)aCt>aGt	p.T356S	KIF20B_ENST00000416354.1_Missense_Mutation_p.T356S|KIF20B_ENST00000260753.4_Missense_Mutation_p.T356S|KIF20B_ENST00000394289.2_Missense_Mutation_p.T356S	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	356	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGCATATTCACTGTTAAAATA	0.254																																						uc001kgs.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1066-1068)ACT>AGT		M-phase phosphoprotein 1							41.0	43.0	42.0					10																	91477195		2196	4289	6485	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91477195C>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1067C>G	10.37:g.91477195C>G	ENSP00000360793:p.Thr356Ser					KIF20B_uc001kgr.1_Missense_Mutation_p.T356S	p.T356S	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			10	1139	+			356			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.1067C>G		.	.	.	.	.	.	.	.	.	.	C	13.71	2.317230	0.40996	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.41	5.41	0.78517	Kinesin, motor domain (5);	0.000000	0.53938	D	0.000051	T	0.68430	0.3000	N	0.05280	-0.08	0.48511	D	0.999666	P;B	0.34587	0.458;0.124	P;B	0.49597	0.616;0.344	T	0.66606	-0.5881	10	0.22706	T	0.39	-15.9069	17.7389	0.88402	0.0:1.0:0.0:0.0	.	356;356	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	S	356	ENSP00000260753:T356S;ENSP00000411545:T356S;ENSP00000377830:T356S;ENSP00000360793:T356S	ENSP00000260753:T356S	T	+	2	0	KIF20B	91467175	1.000000	0.71417	0.989000	0.46669	0.952000	0.60782	5.309000	0.65774	2.690000	0.91761	0.643000	0.83706	ACT		0.254	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195		2	4	0	0	0	0.004672	0	2	4		
ZNF518A	9849	broad.mit.edu	37	10	97919098	97919098	+	RNA	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:97919098G>C	ENST00000534948.1	+	0	3876							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)		TGTGACTAAGGAGCCTTGCAA	0.433																																						uc001klp.2		NaN																	0				ovary(1)	1						c.(3019-3021)GAG>CAG		zinc finger protein 518							62.0	61.0	61.0					10																	97919098		1862	4103	5965			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97919098G>C	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.97919098G>C						ZNF518A_uc001klo.1_Missense_Mutation_p.E477Q|ZNF518A_uc001klq.2_Missense_Mutation_p.E1007Q|ZNF518A_uc001klr.2_Missense_Mutation_p.E1007Q	p.E1007Q	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	3876	+		Colorectal(252;0.0815)	1007					A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37	c.3019G>C																																																																																					0.433	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript			NM_014803		3	23	0	0	0	0.004672	0	3	23		
LCOR	84458	broad.mit.edu	37	10	98715326	98715326	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:98715326G>C	ENST00000371097.4	+	8	1495	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	LCOR_ENST00000540664.1_Missense_Mutation_p.E317Q|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.E317Q|LCOR_ENST00000371103.3_Missense_Mutation_p.E317Q			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	317					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTCAGATGCTGAGCAGTCTAC	0.483																																						uc001kms.1		NaN																	0				ovary(3)	3						c.(949-951)GAG>CAG		ligand dependent nuclear receptor corepressor							42.0	43.0	43.0					10																	98715326		2203	4300	6503	SO:0001583	missense	84458					nucleus	DNA binding	g.chr10:98715326G>C		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.949G>C	10.37:g.98715326G>C	ENSP00000360138:p.Glu317Gln					LCOR_uc001kmr.2_Missense_Mutation_p.E317Q|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.E317Q|LCOR_uc001kmu.1_Missense_Mutation_p.E317Q	p.E317Q	NM_032440	NP_115816	Q96JN0	LCOR_HUMAN		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1470	+		Colorectal(252;0.162)	317					D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	ENST00000371097.4	37	c.949G>C	CCDS7451.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976325	0.34848	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.65	5.65	0.86999	.	0.042279	0.85682	D	0.000000	T	0.42154	0.1190	N	0.08118	0	0.35873	D	0.82838	P;P	0.45827	0.791;0.867	B;P	0.44477	0.264;0.451	T	0.57021	-0.7882	9	0.66056	D	0.02	-3.9016	20.1057	0.97893	0.0:0.0:1.0:0.0	.	317;317	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	Q	317	.	ENSP00000348298:E317Q	E	+	1	0	LCOR	98705316	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.125000	0.77193	2.827000	0.97445	0.650000	0.86243	GAG		0.483	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2				15	11	0	0	0	0.004007	0	15	11		
RRP12	23223	broad.mit.edu	37	10	99160977	99160977	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:99160977C>T	ENST00000370992.4	-	1	123	c.12G>A	c.(10-12)tcG>tcA	p.S4S	RRP12_ENST00000414986.1_Silent_p.S4S|RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000315563.6_Silent_p.S4S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	4						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GCAACTTTCCCGAGCGACCCA	0.587																																						uc001knf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(10-12)TCG>TCA		ribosomal RNA processing 12 homolog isoform 1							63.0	56.0	59.0					10																	99160977		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99160977C>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.12G>A	10.37:g.99160977C>T						RRP12_uc010qou.1_Silent_p.S4S|RRP12_uc009xvn.2_Silent_p.S4S	p.S4S	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	1	151	-		Colorectal(252;0.162)	4					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.12G>A	CCDS7457.1																																																																																				0.587	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179		16	44	0	0	0	0.006122	0	16	44		
PKD2L1	9033	broad.mit.edu	37	10	102057272	102057272	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:102057272G>A	ENST00000318222.3	-	5	1205	c.823C>T	c.(823-825)Cca>Tca	p.P275S	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.P275S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	275					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CGGGATCCTGGAAGGTCCAGG	0.617																																						uc001kqx.1		NaN																	0				ovary(4)	4						c.(823-825)CCA>TCA		polycystic kidney disease 2-like 1							58.0	54.0	56.0					10																	102057272		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102057272G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.823C>T	10.37:g.102057272G>A	ENSP00000325296:p.Pro275Ser					PKD2L1_uc009xwm.1_Missense_Mutation_p.P228S	p.P275S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	5	1206	-		Colorectal(252;0.117)	275			Extracellular (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.823C>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	2.154	-0.393823	0.04899	.	.	ENSG00000107593	ENST00000353274;ENST00000318222;ENST00000339977	T;T	0.69561	-0.41;-0.41	5.53	3.51	0.40186	Polycystin cation channel, PKD1/PKD2 (1);	0.698546	0.15006	N	0.285843	T	0.36991	0.0987	N	0.04063	-0.285	0.09310	N	0.999999	B;B	0.18013	0.025;0.002	B;B	0.15052	0.009;0.012	T	0.22068	-1.0227	10	0.02654	T	1	-1.6931	9.2737	0.37688	0.0:0.392:0.4516:0.1564	.	228;275	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	S	275	ENSP00000266049:P275S;ENSP00000325296:P275S	ENSP00000325296:P275S	P	-	1	0	PKD2L1	102047262	0.776000	0.28616	1.000000	0.80357	0.996000	0.88848	2.193000	0.42658	1.287000	0.44583	0.561000	0.74099	CCA		0.617	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2		NM_016112		27	43	0	0	0	0.007291	0	27	43		
CPXM2	119587	broad.mit.edu	37	10	125506529	125506529	+	Missense_Mutation	SNP	G	G	T	rs532803793		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr10:125506529G>T	ENST00000241305.3	-	14	2176	c.2022C>A	c.(2020-2022)aaC>aaA	p.N674K	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	674					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AATCCCCATCGTTGGCTGTGA	0.552																																						uc001lhk.1		NaN																	0				ovary(2)	2						c.(2020-2022)AAC>AAA		carboxypeptidase X (M14 family), member 2							129.0	138.0	135.0					10																	125506529		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506529G>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2022C>A	10.37:g.125506529G>T	ENSP00000241305:p.Asn674Lys					CPXM2_uc001lhj.2_Intron	p.N674K	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2347	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	674					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.2022C>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	0.340	-0.950768	0.02285	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.40476	1.03	4.95	1.07	0.20283	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.403649	0.29908	N	0.010894	T	0.12646	0.0307	N	0.01152	-0.98	0.80722	D	1	B	0.14805	0.011	B	0.23852	0.049	T	0.33954	-0.9848	10	0.02654	T	1	-10.0117	8.9019	0.35499	0.4513:0.0:0.5487:0.0	.	674	Q8N436	CPXM2_HUMAN	K	674;507;649	ENSP00000241305:N674K	ENSP00000241305:N674K	N	-	3	2	CPXM2	125496519	0.128000	0.22383	0.994000	0.49952	0.594000	0.36715	-0.215000	0.09279	0.035000	0.15519	-0.727000	0.03589	AAC		0.552	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1		NM_198148		24	208	1	0	3.28513e-13	0.021523	4.48859e-13	24	208		
IFITM3	10410	broad.mit.edu	37	11	319922	319922	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:319922C>T	ENST00000399808.4	-	2	554	c.318G>A	c.(316-318)ctG>ctA	p.L106L	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.L85L|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Silent_p.L85L	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	106					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGATGTTCAGGCACTTGG	0.587																																						uc001lpa.2		NaN																	0				central_nervous_system(7)	7						c.(316-318)CTG>CTA		interferon-induced transmembrane protein 3							63.0	66.0	65.0					11																	319922		1982	4136	6118	SO:0001819	synonymous_variant	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:319922C>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.318G>A	11.37:g.319922C>T						uc001loz.2_Intron	p.L106L	NM_021034	NP_066362	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	419	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	106			Cytoplasmic (Potential).		Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	c.318G>A	CCDS41585.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717049	0.30413	.	.	ENSG00000142089	ENST00000270031	.	.	.	4.51	1.33	0.21861	.	.	.	.	.	T	0.70885	0.3275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74006	-0.3803	5	0.87932	D	0	-9.9988	12.3217	0.54989	0.0:0.4995:0.5005:0.0	.	.	.	.	K	87	.	ENSP00000372047:E87K	E	-	1	0	IFITM3	309922	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.220000	0.17660	0.486000	0.27676	0.655000	0.94253	GAA		0.587	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1		NM_021034		48	48	0	0	0	0.01441	0	48	48		
OR51I2	390064	broad.mit.edu	37	11	5474803	5474803	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:5474803G>T	ENST00000341449.2	+	1	166	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	29					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCTGTCAGGGCCCCTCTG	0.547																																						uc010qzf.1		NaN																	0				ovary(2)|skin(2)	4						c.(85-87)GGG>TGG		olfactory receptor, family 51, subfamily I,							109.0	93.0	98.0					11																	5474803		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5474803G>T	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.85G>T	11.37:g.5474803G>T	ENSP00000341987:p.Gly29Trp					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.G29W	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	85	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	29			Helical; Name=1; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.85G>T	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	G	9.486	1.099534	0.20552	.	.	ENSG00000187918	ENST00000341449	T	0.00325	8.1	5.58	3.65	0.41850	.	0.310879	0.28549	N	0.014953	T	0.00178	0.0005	L	0.39020	1.185	0.09310	N	1	P	0.47106	0.89	B	0.43155	0.41	T	0.49716	-0.8910	10	0.87932	D	0	.	5.0735	0.14618	0.0786:0.2176:0.5727:0.1311	.	29	Q9H344	O51I2_HUMAN	W	29	ENSP00000341987:G29W	ENSP00000341987:G29W	G	+	1	0	OR51I2	5431379	0.000000	0.05858	0.208000	0.23602	0.061000	0.15899	-0.053000	0.11846	1.605000	0.50152	0.655000	0.94253	GGG		0.547	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1		NM_001004754		12	31	1	0	9.31168e-06	0.016723	1.21418e-05	12	31		
NLRP10	338322	broad.mit.edu	37	11	7984932	7984932	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:7984932C>T	ENST00000328600.2	-	1	272	c.111G>A	c.(109-111)ctG>ctA	p.L37L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	37	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCCTCAGACAGGGTCATAT	0.542																																						uc001mfv.1		NaN																	0				lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9						c.(109-111)CTG>CTA		NLR family, pyrin domain containing 10							68.0	70.0	69.0					11																	7984932		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7984932C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.111G>A	11.37:g.7984932C>T							p.L37L	NM_176821	NP_789791	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	128	-			37			DAPIN.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.111G>A	CCDS7784.1																																																																																				0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821		25	52	0	0	0	0.016522	0	25	52		
RIC3	79608	broad.mit.edu	37	11	8132430	8132430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:8132430C>A	ENST00000309737.6	-	6	924	c.925G>T	c.(925-927)Gaa>Taa	p.E309*	RIC3_ENST00000343202.4_Nonsense_Mutation_p.E308*|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Nonsense_Mutation_p.E127*|RIC3_ENST00000539720.1_Nonsense_Mutation_p.E260*|RIC3_ENST00000396677.2_Nonsense_Mutation_p.E147*|RIC3_ENST00000425599.2_Nonsense_Mutation_p.E228*			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	309					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TCCTCGTCTTCATGAAAACAG	0.493																																						uc001mgd.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(925-927)GAA>TAA		resistance to inhibitors of cholinesterase 3							137.0	129.0	132.0					11																	8132430		2201	4296	6497	SO:0001587	stop_gained	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8132430C>A		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.925G>T	11.37:g.8132430C>A	ENSP00000308820:p.Glu309*					RIC3_uc001mgb.2_Nonsense_Mutation_p.E147*|RIC3_uc001mgc.2_Nonsense_Mutation_p.E308*|RIC3_uc001mge.2_Nonsense_Mutation_p.E127*|RIC3_uc010rbl.1_Nonsense_Mutation_p.E259*|RIC3_uc010rbm.1_Nonsense_Mutation_p.E337*|RIC3_uc009yfm.2_Nonsense_Mutation_p.E228*|RIC3_uc009yfn.2_Nonsense_Mutation_p.E112*	p.E309*	NM_024557	NP_078833	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	6	979	-			309			Cytoplasmic (Potential).		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Nonsense_Mutation	SNP	ENST00000309737.6	37	c.925G>T	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142518	0.94560	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000539720;ENST00000425599	.	.	.	5.96	4.99	0.66335	.	0.233852	0.36972	N	0.002309	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.6573	0.85232	0.0:0.8704:0.1296:0.0	.	.	.	.	X	147;127;308;309;260;228	.	ENSP00000308820:E309X	E	-	1	0	RIC3	8089006	0.966000	0.33281	0.987000	0.45799	0.993000	0.82548	2.084000	0.41625	2.826000	0.97356	0.650000	0.86243	GAA		0.493	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1		NM_024557		36	78	1	0	1.60099e-16	0.021022	2.21675e-16	36	78		
MICALCL	84953	broad.mit.edu	37	11	12315578	12315578	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:12315578G>C	ENST00000256186.2	+	3	891	c.600G>C	c.(598-600)gaG>gaC	p.E200D		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	200					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCATCCCTGAGAGTGTGCACC	0.537																																						uc001mkg.1		NaN																	0				skin(1)	1						c.(598-600)GAG>GAC		MICAL C-terminal like							90.0	98.0	95.0					11																	12315578		2024	4171	6195	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12315578G>C	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.600G>C	11.37:g.12315578G>C	ENSP00000256186:p.Glu200Asp						p.E200D	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	891	+			200					Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.600G>C	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575508	0.45902	.	.	ENSG00000133808	ENST00000256186	T	0.09163	3.01	5.03	-0.165	0.13355	.	0.513188	0.16454	N	0.213707	T	0.09905	0.0243	M	0.61703	1.905	0.09310	N	1	P	0.52463	0.953	B	0.43194	0.411	T	0.26677	-1.0096	10	0.21014	T	0.42	.	4.3917	0.11343	0.3637:0.1589:0.4774:0.0	.	200	Q6ZW33	MICLK_HUMAN	D	200	ENSP00000256186:E200D	ENSP00000256186:E200D	E	+	3	2	MICALCL	12272154	0.000000	0.05858	0.000000	0.03702	0.309000	0.27889	-0.303000	0.08210	-0.180000	0.10637	0.557000	0.71058	GAG		0.537	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1		NM_032867		31	85	0	0	0	0.010818	0	31	85		
DBX1	120237	broad.mit.edu	37	11	20178727	20178727	+	Silent	SNP	C	C	T	rs143300593		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:20178727C>T	ENST00000524983.2	-	3	816	c.528G>A	c.(526-528)ggG>ggA	p.G176G	DBX1_ENST00000227256.3_Silent_p.G176G			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	176					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GCCGAGGCTTCCCGCGCGCGG	0.682																																						uc001mpw.1		NaN																	0				ovary(1)	1						c.(526-528)GGG>GGA		developing brain homeobox 1							11.0	12.0	11.0					11																	20178727		2199	4296	6495	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178727C>T			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.528G>A	11.37:g.20178727C>T							p.G176G	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			3	528	-			176						Silent	SNP	ENST00000524983.2	37	c.528G>A																																																																																					0.682	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2		NM_001029865		6	10	0	0	0	0.001168	0	6	10		
QSER1	79832	broad.mit.edu	37	11	32955355	32955355	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:32955355A>G	ENST00000399302.2	+	4	2499	c.2164A>G	c.(2164-2166)Aat>Gat	p.N722D	QSER1_ENST00000527788.1_Missense_Mutation_p.N483D	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	722	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATCTCTTCCTAATACACAGGT	0.413																																						uc001mty.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2164-2166)AAT>GAT		glutamine and serine rich 1							83.0	79.0	80.0					11																	32955355		1897	4118	6015	SO:0001583	missense	79832							g.chr11:32955355A>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2164A>G	11.37:g.32955355A>G	ENSP00000382241:p.Asn722Asp					QSER1_uc001mtz.1_Missense_Mutation_p.N483D|QSER1_uc001mua.2_Missense_Mutation_p.N227D	p.N722D	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	2431	+	Breast(20;0.158)		722			Gln-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.2164A>G	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656021	0.29425	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.22336	2.29;1.96	5.53	4.38	0.52667	.	0.158232	0.43919	D	0.000509	T	0.11452	0.0279	N	0.19112	0.55	0.23795	N	0.996823	B;B;B	0.32467	0.372;0.152;0.094	B;B;B	0.30316	0.114;0.053;0.039	T	0.20438	-1.0275	10	0.30854	T	0.27	.	6.2596	0.20893	0.7254:0.1368:0.1378:0.0	.	483;483;722	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	D	722;483;483	ENSP00000382241:N722D;ENSP00000432766:N483D	ENSP00000078652:N483D	N	+	1	0	QSER1	32911931	1.000000	0.71417	0.957000	0.39632	0.985000	0.73830	5.060000	0.64312	0.905000	0.36596	0.482000	0.46254	AAT		0.413	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774		8	21	0	0	0	0.00308	0	8	21		
C11orf74	119710	broad.mit.edu	37	11	36654908	36654908	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:36654908C>T	ENST00000334307.5	+	3	326	c.211C>T	c.(211-213)Cat>Tat	p.H71Y	C11orf74_ENST00000446510.2_Missense_Mutation_p.H71Y|C11orf74_ENST00000534635.1_Intron|C11orf74_ENST00000347206.4_Intron	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	71										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				AAAAGTTACTCATAAAAATGA	0.338																																						uc001mwy.1		NaN																	0					0						c.(211-213)CAT>TAT		hypothetical protein LOC119710							82.0	83.0	83.0					11																	36654908		2202	4296	6498	SO:0001583	missense	119710							g.chr11:36654908C>T	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.211C>T	11.37:g.36654908C>T	ENSP00000334848:p.His71Tyr					C11orf74_uc010rfd.1_RNA|C11orf74_uc001mww.1_Intron|C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_RNA	p.H71Y	NM_138787	NP_620142	Q86VG3	CK074_HUMAN			3	284	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	71					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.211C>T	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	C	9.968	1.224711	0.22457	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000446510;ENST00000530697;ENST00000532470	.	.	.	4.29	0.986	0.19784	.	0.442270	0.21521	N	0.073202	T	0.29288	0.0729	L	0.54323	1.7	0.09310	N	1	D	0.54207	0.965	P	0.44811	0.461	T	0.19484	-1.0304	9	0.56958	D	0.05	0.145	2.3524	0.04287	0.1974:0.5005:0.1921:0.11	.	71	Q86VG3	CK074_HUMAN	Y	71	.	ENSP00000334848:H71Y	H	+	1	0	C11orf74	36611484	0.000000	0.05858	0.022000	0.16811	0.316000	0.28119	0.348000	0.20031	0.511000	0.28236	0.585000	0.79938	CAT		0.338	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1		NM_138787		5	24	0	0	0	0.001168	0	5	24		
ZNF408	79797	broad.mit.edu	37	11	46726955	46726955	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:46726955C>T	ENST00000311764.2	+	5	1935	c.1705C>T	c.(1705-1707)Cac>Tac	p.H569Y		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTCCGAGCTCACGAGCGCCT	0.657																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	uc001nde.1		NaN																	0					0						c.(1705-1707)CAC>TAC		zinc finger protein 408							25.0	25.0	25.0					11																	46726955		2201	4299	6500	SO:0001583	missense	79797				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	g.chr11:46726955C>T	AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1705C>T	11.37:g.46726955C>T	ENSP00000309606:p.His569Tyr					ZNF408_uc010rgw.1_Missense_Mutation_p.H561Y	p.H569Y	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN			5	1935	+			569			C2H2-type 8.			Missense_Mutation	SNP	ENST00000311764.2	37	c.1705C>T	CCDS7923.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217975	0.79352	.	.	ENSG00000175213	ENST00000311764	D	0.86769	-2.17	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000479	D	0.95787	0.8629	H	0.96048	3.76	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97388	0.9987	10	0.87932	D	0	-19.801	18.0167	0.89243	0.0:1.0:0.0:0.0	.	561;569	B4DXY4;Q9H9D4	.;ZN408_HUMAN	Y	569	ENSP00000309606:H569Y	ENSP00000309606:H569Y	H	+	1	0	ZNF408	46683531	0.004000	0.15560	0.915000	0.36163	0.729000	0.41735	2.012000	0.40932	2.325000	0.78763	0.462000	0.41574	CAC		0.657	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2		NM_024741		6	30	0	0	0	0.001984	0	6	30		
PSMC3	5702	broad.mit.edu	37	11	47444417	47444417	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:47444417C>G	ENST00000298852.3	-	7	856	c.699G>C	c.(697-699)aaG>aaC	p.K233N	PSMC3_ENST00000602866.1_Missense_Mutation_p.K217N|PSMC3_ENST00000530912.1_Missense_Mutation_p.K191N	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	233					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGGAGGGTCTTCCCCGTCC	0.582																																						uc001nfh.2		NaN																	0				ovary(4)	4						c.(697-699)AAG>AAC		proteasome 26S ATPase subunit 3							100.0	105.0	103.0					11																	47444417		2201	4298	6499	SO:0001583	missense	5702				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47444417C>G	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.699G>C	11.37:g.47444417C>G	ENSP00000298852:p.Lys233Asn					PSMC3_uc009ylr.1_Missense_Mutation_p.K191N	p.K233N	NM_002804	NP_002795	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	7	893	-			233	K->H: Loss of function.		ATP (Potential).		B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	ENST00000298852.3	37	c.699G>C	CCDS7935.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184744	0.57909	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651	D;D	0.99771	-6.71;-6.71	5.29	3.07	0.35406	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96574	0.9425	10	0.87932	D	0	-40.8803	12.5932	0.56454	0.0:0.8414:0.0:0.1586	.	191;233	E9PM69;P17980	.;PRS6A_HUMAN	N	233;191;177;177;198;198	ENSP00000298852:K233N;ENSP00000433097:K191N	ENSP00000298852:K233N	K	-	3	2	PSMC3	47400993	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	3.060000	0.49955	1.234000	0.43709	0.561000	0.74099	AAG		0.582	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2		NM_002804		8	198	0	0	0	0.006214	0	8	198		
NUP160	23279	broad.mit.edu	37	11	47819815	47819815	+	Splice_Site	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:47819815C>A	ENST00000378460.2	-	25	3038		c.e25-1		NUP160_ENST00000530326.1_Splice_Site|NUP160_ENST00000528071.1_Splice_Site	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTAGAGTAGCCTAAATATCAA	0.353																																						uc001ngm.2		NaN																	0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.e25-1		nucleoporin 160kDa							75.0	76.0	75.0					11																	47819815		2201	4298	6499	SO:0001630	splice_region_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47819815C>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2992-1G>T	11.37:g.47819815C>A						NUP160_uc009ylw.2_Splice_Site	p.A998_splice	NM_015231	NP_056046	Q12769	NU160_HUMAN			25	3077	-								B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Splice_Site	SNP	ENST00000378460.2	37	c.2992_splice	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228076	0.79576	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6778	0.85284	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP160	47776391	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.456000	0.80751	2.547000	0.85894	0.655000	0.94253	.		0.353	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2		NM_015231	Intron	8	40	1	0	0.000157383	0.00308	0.000202036	8	40		
OR5T1	390155	broad.mit.edu	37	11	56043764	56043764	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:56043764C>A	ENST00000313033.2	+	1	736	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTTGTGGGCTCTATTGAGATA	0.408																																						uc001nio.1		NaN																	0				ovary(2)|pancreas(1)	3						c.(649-651)TCT>TAT		olfactory receptor, family 5, subfamily T,							218.0	207.0	211.0					11																	56043764		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043764C>A	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.650C>A	11.37:g.56043764C>A	ENSP00000323612:p.Ser217Tyr						p.S217Y	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	650	+	Esophageal squamous(21;0.00448)		217			Helical; Name=5; (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.650C>A	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210534	0.58343	.	.	ENSG00000181698	ENST00000313033	T	0.37752	1.18	3.44	-4.32	0.03688	GPCR, rhodopsin-like superfamily (1);	1.257560	0.05690	N	0.592070	T	0.38957	0.1060	L	0.35593	1.075	0.09310	N	1	P	0.38167	0.621	P	0.52710	0.707	T	0.53107	-0.8485	10	0.56958	D	0.05	.	6.7586	0.23528	0.0:0.3315:0.1277:0.5408	.	217	Q8NG75	OR5T1_HUMAN	Y	217	ENSP00000323612:S217Y	ENSP00000323612:S217Y	S	+	2	0	OR5T1	55800340	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	-0.512000	0.06313	-0.820000	0.04318	-0.495000	0.04643	TCT		0.408	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1		NM_001004745		21	97	1	0	1.96292e-10	0.010504	2.65572e-10	21	97		
CLP1	10978	broad.mit.edu	37	11	57427259	57427259	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57427259G>A	ENST00000302731.4	+	2	431	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	CLP1_ENST00000525602.1_Missense_Mutation_p.R104Q|CLP1_ENST00000529430.1_Missense_Mutation_p.R115Q|CLP1_ENST00000533682.1_Missense_Mutation_p.R104Q	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GAACAGATGCGGAGGCAAGCG	0.547																																						uc001nkw.2		NaN																	0				ovary(1)	1						c.(310-312)CGG>CAG		ATP/GTP-binding protein isoform 1							87.0	87.0	87.0					11																	57427259		2201	4296	6497	SO:0001583	missense	10978				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	g.chr11:57427259G>A	BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.311G>A	11.37:g.57427259G>A	ENSP00000304704:p.Arg104Gln					CLP1_uc010rjw.1_Missense_Mutation_p.R104Q|CLP1_uc009yml.2_Missense_Mutation_p.R104Q	p.R104Q	NM_006831	NP_006822	Q92989	CLP1_HUMAN			2	450	+			104					Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000302731.4	37	c.311G>A	CCDS44600.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044978	0.93685	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000533905;ENST00000525602;ENST00000302731	T;T;T;T;T	0.58652	0.32;0.33;1.37;0.33;1.37	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.91612	3.225	0.27637	N	0.94784	D;D	0.89917	0.992;1.0	D;D	0.83275	0.92;0.996	T	0.77360	-0.2617	10	0.87932	D	0	-11.8734	14.1249	0.65213	0.0727:0.0:0.9273:0.0	.	104;104	Q92989-2;Q92989	.;CLP1_HUMAN	Q	115;104;104;104;104	ENSP00000433406:R115Q;ENSP00000434995:R104Q;ENSP00000431744:R104Q;ENSP00000436066:R104Q;ENSP00000304704:R104Q	ENSP00000304704:R104Q	R	+	2	0	CLP1	57183835	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.464000	0.97655	1.377000	0.46286	0.655000	0.94253	CGG		0.547	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000393465.1		NM_006831		27	61	0	0	0	0.021523	0	27	61		
CTNND1	1500	broad.mit.edu	37	11	57569394	57569394	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57569394C>G	ENST00000399050.4	+	7	1682	c.1146C>G	c.(1144-1146)gtC>gtG	p.V382V	CTNND1_ENST00000399039.4_Silent_p.V382V|CTNND1_ENST00000533667.1_Silent_p.V59V|CTNND1_ENST00000428599.2_Silent_p.V382V|CTNND1_ENST00000530094.1_Silent_p.V281V|CTNND1_ENST00000529873.1_Silent_p.V328V|CTNND1_ENST00000527467.1_Silent_p.V59V|CTNND1_ENST00000529526.1_Silent_p.V328V|CTNND1_ENST00000529919.1_Silent_p.V382V|CTNND1_ENST00000415361.2_Silent_p.V281V|CTNND1_ENST00000529986.1_Silent_p.V281V|CTNND1_ENST00000526357.1_Silent_p.V328V|CTNND1_ENST00000524630.1_Silent_p.V382V|CTNND1_ENST00000532787.1_Silent_p.V281V|CTNND1_ENST00000528621.1_Silent_p.V328V|CTNND1_ENST00000532463.1_Silent_p.V281V|CTNND1_ENST00000534579.1_Silent_p.V328V|CTNND1_ENST00000532649.1_Silent_p.V328V|CTNND1_ENST00000525902.1_Silent_p.V59V|CTNND1_ENST00000358694.6_Silent_p.V382V|CTNND1_ENST00000532844.1_Silent_p.V328V|CTNND1_ENST00000360682.6_Silent_p.V382V|CTNND1_ENST00000532245.1_Silent_p.V281V|CTNND1_ENST00000361332.4_Silent_p.V382V|CTNND1_ENST00000530748.1_Silent_p.V328V|CTNND1_ENST00000526772.1_Silent_p.V59V|CTNND1_ENST00000528232.1_Silent_p.V281V|CTNND1_ENST00000531014.1_Silent_p.V59V|CTNND1_ENST00000526938.1_Silent_p.V382V|CTNND1_ENST00000361796.4_Silent_p.V382V|CTNND1_ENST00000426142.2_Silent_p.V281V|CTNND1_ENST00000361391.6_Silent_p.V382V	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	382					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGGATGCTGTCAAGTCCAATG	0.552																																						uc001nmc.3		NaN																	0				breast(4)|ovary(1)|kidney(1)	6						c.(1144-1146)GTC>GTG		catenin, delta 1 isoform 1ABC							103.0	102.0	103.0					11																	57569394		2048	4214	6262	SO:0001819	synonymous_variant	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57569394C>G	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1146C>G	11.37:g.57569394C>G						CTNND1_uc001nlh.1_Silent_p.V382V|CTNND1_uc001nlu.3_Silent_p.V281V|CTNND1_uc001nlt.3_Silent_p.V281V|CTNND1_uc001nls.3_Silent_p.V281V|CTNND1_uc001nlw.3_Silent_p.V281V|CTNND1_uc001nmf.3_Silent_p.V382V|CTNND1_uc001nmd.3_Silent_p.V328V|CTNND1_uc001nlk.3_Silent_p.V328V|CTNND1_uc001nme.3_Silent_p.V382V|CTNND1_uc001nll.3_Silent_p.V328V|CTNND1_uc001nmg.3_Silent_p.V328V|CTNND1_uc001nlj.3_Silent_p.V328V|CTNND1_uc001nlr.3_Silent_p.V328V|CTNND1_uc001nlp.3_Silent_p.V328V|CTNND1_uc001nlx.3_Silent_p.V59V|CTNND1_uc001nlz.3_Silent_p.V59V|CTNND1_uc009ymn.2_Silent_p.V59V|CTNND1_uc001nlm.3_Silent_p.V382V|CTNND1_uc001nly.3_Silent_p.V59V|CTNND1_uc001nmb.3_Silent_p.V59V|CTNND1_uc001nma.3_Silent_p.V59V|CTNND1_uc001nmi.3_Silent_p.V281V|CTNND1_uc001nmh.3_Silent_p.V382V|CTNND1_uc001nlq.3_Silent_p.V281V|CTNND1_uc001nln.3_Silent_p.V382V|CTNND1_uc001nli.3_Silent_p.V382V|CTNND1_uc001nlo.3_Silent_p.V281V|CTNND1_uc001nlv.3_Silent_p.V281V	p.V382V	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			7	1717	+		all_epithelial(135;0.155)	382			ARM 1.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Silent	SNP	ENST00000399050.4	37	c.1146C>G	CCDS44604.1																																																																																				0.552	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1		NM_001331		16	94	0	0	0	0.004007	0	16	94		
OR9Q1	219956	broad.mit.edu	37	11	57947582	57947582	+	Missense_Mutation	SNP	C	C	G	rs139135884	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:57947582C>G	ENST00000335397.3	+	3	982	c.666C>G	c.(664-666)atC>atG	p.I222M		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	222						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(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TGTTTATCATCGTGGCCATCA	0.512																																						uc001nmj.2		NaN																	0				ovary(1)	1						c.(664-666)ATC>ATG		olfactory receptor, family 9, subfamily Q,							234.0	189.0	204.0					11																	57947582		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947582C>G	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.666C>G	11.37:g.57947582C>G	ENSP00000334934:p.Ile222Met						p.I222M	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN			3	982	+		Breast(21;0.222)	222			Cytoplasmic (Potential).		Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.666C>G	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645920	0.29246	.	.	ENSG00000186509	ENST00000335397	T	0.00202	8.56	4.77	-5.88	0.02290	GPCR, rhodopsin-like superfamily (1);	0.156138	0.30043	N	0.010545	T	0.00328	0.0010	M	0.75447	2.3	0.19300	N	0.999974	D	0.76494	0.999	D	0.69307	0.963	T	0.43294	-0.9400	10	0.72032	D	0.01	-11.0721	4.1536	0.10249	0.0982:0.2908:0.0974:0.5136	.	222	Q8NGQ5	OR9Q1_HUMAN	M	222	ENSP00000334934:I222M	ENSP00000334934:I222M	I	+	3	3	OR9Q1	57704158	0.000000	0.05858	0.036000	0.18154	0.442000	0.32017	-3.623000	0.00411	-1.168000	0.02776	0.484000	0.47621	ATC		0.512	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2		NM_001005212		26	93	0	0	0	0.008361	0	26	93		
TMEM132A	54972	broad.mit.edu	37	11	60703933	60703933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:60703933C>T	ENST00000453848.2	+	11	2784	c.2626C>T	c.(2626-2628)Cag>Tag	p.Q876*	TMEM132A_ENST00000005286.4_Nonsense_Mutation_p.Q877*			Q24JP5	T132A_HUMAN	transmembrane protein 132A	876	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.Q877E(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGCGCTATCAGCGCAAAGA	0.607																																						uc001nqj.2		NaN																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2626-2628)CAG>TAG		transmembrane protein 132A isoform b							172.0	163.0	166.0					11																	60703933		2203	4299	6502	SO:0001587	stop_gained	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60703933C>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2626C>T	11.37:g.60703933C>T	ENSP00000405823:p.Gln876*					TMEM132A_uc001nqi.2_Nonsense_Mutation_p.Q877*|TMEM132A_uc001nqm.2_Nonsense_Mutation_p.Q86*	p.Q876*	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			11	2819	+			876			Binds to HSPA5/GRP78 (By similarity).|Cytoplasmic (Potential).|Confers cellular localization similar to full-length form (By similarity).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Nonsense_Mutation	SNP	ENST00000453848.2	37	c.2626C>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	C	40	8.019788	0.98613	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	.	.	.	5.04	5.04	0.67666	.	0.119965	0.36815	N	0.002382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.69	16.5569	0.84487	0.0:1.0:0.0:0.0	.	.	.	.	X	627;876;877	.	ENSP00000005286:Q877X	Q	+	1	0	TMEM132A	60460509	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.568000	0.53820	2.516000	0.84829	0.655000	0.94253	CAG		0.607	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1		NM_017870		55	233	0	0	0	0.01441	0	55	233		
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					uc010rlj.1		NaN																	3	Substitution - coding silent(3)		prostate(2)|endometrium(1)		0						c.(115-117)GGT>GGG		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_uc001nrn.1_5'UTR	p.G39G	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN			3	410	+			39					A8MZ23|B7Z8N1	Silent	SNP	ENST00000515837.2	37	c.117T>G	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1		NM_016499	Silent	17	67	0	0	0	0.010818	0	17	67		
DAGLA	747	broad.mit.edu	37	11	61511216	61511216	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:61511216G>A	ENST00000257215.5	+	20	2500	c.2384G>A	c.(2383-2385)cGc>cAc	p.R795H	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	795					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTCGACTCGCGCCGCTCCTCA	0.682																																						uc001nsa.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(2383-2385)CGC>CAC		neural stem cell-derived dendrite regulator							45.0	51.0	49.0					11																	61511216		2032	4040	6072	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511216G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2384G>A	11.37:g.61511216G>A	ENSP00000257215:p.Arg795His						p.R795H	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2495	+			795			Cytoplasmic (Potential).		A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2384G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061103	0.76074	.	.	ENSG00000134780	ENST00000257215	T	0.35236	1.32	3.11	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	N	0.24115	0.695	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.53401	-0.8444	10	0.72032	D	0.01	-32.1107	15.476	0.75481	0.0:0.0:1.0:0.0	.	795	Q9Y4D2	DGLA_HUMAN	H	795	ENSP00000257215:R795H	ENSP00000257215:R795H	R	+	2	0	DAGLA	61267792	1.000000	0.71417	0.997000	0.53966	0.605000	0.37080	7.198000	0.77823	2.062000	0.61559	0.491000	0.48974	CGC		0.682	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1		NM_006133		33	126	0	0	0	0.010818	0	33	126		
MTA2	9219	broad.mit.edu	37	11	62364201	62364201	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:62364201C>T	ENST00000278823.2	-	9	1179	c.790G>A	c.(790-792)Gag>Aag	p.E264K	MTA2_ENST00000527204.1_Missense_Mutation_p.E91K|MTA2_ENST00000524902.1_Missense_Mutation_p.E91K	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	264	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCTCCATCTCATCCCGACAC	0.537																																						uc001ntq.1		NaN																	0				ovary(1)|skin(1)	2						c.(790-792)GAG>AAG		metastasis-associated protein 2							88.0	85.0	86.0					11																	62364201		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62364201C>T	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.790G>A	11.37:g.62364201C>T	ENSP00000278823:p.Glu264Lys					MTA2_uc010rlx.1_Missense_Mutation_p.E91K	p.E264K	NM_004739	NP_004730	O94776	MTA2_HUMAN			9	1171	-			264			SANT.		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.790G>A	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198780	0.94997	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.47177	0.85;0.85;0.85	5.39	5.39	0.77823	SANT domain, DNA binding (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.80508	2.5	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.72893	-0.4154	10	0.59425	D	0.04	-27.67	16.9935	0.86360	0.0:1.0:0.0:0.0	.	264	O94776	MTA2_HUMAN	K	264;91;91	ENSP00000278823:E264K;ENSP00000431346:E91K;ENSP00000431797:E91K	ENSP00000278823:E264K	E	-	1	0	MTA2	62120777	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.767000	0.85331	2.679000	0.91253	0.561000	0.74099	GAG		0.537	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1		NM_004739		69	142	0	0	0	0.01441	0	69	142		
PYGM	5837	broad.mit.edu	37	11	64522956	64522956	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64522956C>A	ENST00000164139.3	-	6	1133	c.735G>T	c.(733-735)tgG>tgT	p.W245C	PYGM_ENST00000377432.3_Missense_Mutation_p.W157C	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	245					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTGGCAGACCAGAGGCGCA	0.622																																						uc001oax.3		NaN																	0				ovary(2)	2						c.(733-735)TGG>TGT		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						119.0	104.0	109.0					11																	64522956		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64522956C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.735G>T	11.37:g.64522956C>A	ENSP00000164139:p.Trp245Cys					PYGM_uc001oay.3_Missense_Mutation_p.W157C	p.W245C	NM_005609	NP_005600	P11217	PYGM_HUMAN			6	1552	-			245					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.735G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597544	0.87055	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.96830	-4.14;-4.14	5.73	5.73	0.89815	.	0.108147	0.42821	D	0.000652	D	0.98994	0.9657	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99274	1.0894	10	0.87932	D	0	-15.4636	17.3963	0.87446	0.0:1.0:0.0:0.0	.	157;245	A6NDY6;P11217	.;PYGM_HUMAN	C	157;245;226	ENSP00000366650:W157C;ENSP00000164139:W245C	ENSP00000164139:W245C	W	-	3	0	PYGM	64279532	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.722000	0.93159	0.655000	0.94253	TGG		0.622	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2		NM_005609		12	85	1	0	9.31168e-06	0.016723	1.21418e-05	12	85		
MAP4K2	5871	broad.mit.edu	37	11	64557220	64557220	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64557220C>T	ENST00000294066.2	-	31	2448	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R778Q	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	786	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCCAAGCACTCGGAAGATCCT	0.592																																						uc001obh.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2356-2358)CGA>CAA		mitogen-activated protein kinase kinase kinase							76.0	73.0	74.0					11																	64557220		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64557220C>T	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.2357G>A	11.37:g.64557220C>T	ENSP00000294066:p.Arg786Gln					MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.R778Q	p.R786Q	NM_004579	NP_004570	Q12851	M4K2_HUMAN			31	2449	-			786			CNH.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.2357G>A	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971316	0.74246	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.05258	3.47;3.47	4.93	3.9	0.45041	Citron-like (3);	0.569225	0.17251	N	0.181149	T	0.04679	0.0127	N	0.25332	0.735	0.35611	D	0.808682	B;B	0.17465	0.022;0.022	B;B	0.11329	0.004;0.006	T	0.19679	-1.0298	10	0.49607	T	0.09	.	5.4113	0.16351	0.0:0.8204:0.0:0.1796	.	778;786	Q86VU3;Q12851	.;M4K2_HUMAN	Q	786;778	ENSP00000294066:R786Q;ENSP00000366567:R778Q	ENSP00000294066:R786Q	R	-	2	0	MAP4K2	64313796	0.950000	0.32346	1.000000	0.80357	0.893000	0.52053	1.351000	0.34022	2.312000	0.78011	0.306000	0.20318	CGA		0.592	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1		NM_004579		25	123	0	0	0	0.00632	0	25	123		
VPS51	738	broad.mit.edu	37	11	64875784	64875784	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:64875784G>C	ENST00000279281.3	+	5	933	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	281					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CGGCCGGCTGGAGAAGGAGCT	0.706																																						uc001ocr.1		NaN																	0					0						c.(841-843)GAG>CAG		chromosome 11 open reading frame 2							11.0	13.0	12.0					11																	64875784		2190	4277	6467	SO:0001583	missense	738				lipid transport|protein transport	Golgi apparatus|integral to membrane		g.chr11:64875784G>C	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.841G>C	11.37:g.64875784G>C	ENSP00000279281:p.Glu281Gln					C11orf2_uc001ocs.1_Missense_Mutation_p.E157Q	p.E281Q	NM_013265	NP_037397	Q9UID3	FFR_HUMAN			5	881	+			281			Potential.		Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	37	c.841G>C	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674802	0.47781	.	.	ENSG00000149823	ENST00000530773;ENST00000279281;ENST00000529180;ENST00000534557	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.11	5.11	0.69529	Cullin repeat-like-containing domain (1);	0.054338	0.85682	D	0.000000	T	0.66509	0.2796	L	0.38838	1.175	0.54753	D	0.999984	P	0.40638	0.725	B	0.34180	0.177	T	0.65730	-0.6097	10	0.20046	T	0.44	3.8356	16.0439	0.80704	0.0:0.0:1.0:0.0	.	281	Q9UID3	FFR_HUMAN	Q	232;281;306;195	ENSP00000434138:E232Q;ENSP00000279281:E281Q;ENSP00000435245:E306Q;ENSP00000435691:E195Q	ENSP00000279281:E281Q	E	+	1	0	C11orf2	64632360	1.000000	0.71417	0.995000	0.50966	0.904000	0.53231	6.351000	0.73022	2.386000	0.81285	0.549000	0.68633	GAG		0.706	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1		NM_013265		8	45	0	0	0	0.004482	0	8	45		
CDC42EP2	10435	broad.mit.edu	37	11	65088417	65088417	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:65088417C>T	ENST00000544348.1	+	2	654	c.48C>T	c.(46-48)ggC>ggT	p.G16G	CDC42EP2_ENST00000279249.2_Silent_p.G16G|CDC42EP2_ENST00000533419.1_Silent_p.G16G			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	16					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						GTCGCAAGGGCAAGAAGGAGA	0.627																																						uc001odl.2		NaN																	0					0						c.(46-48)GGC>GGT		Cdc42 effector protein 2							57.0	44.0	49.0					11																	65088417		2201	4297	6498	SO:0001819	synonymous_variant	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088417C>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.48C>T	11.37:g.65088417C>T							p.G16G	NM_006779	NP_006770	O14613	BORG1_HUMAN			2	498	+			16					B2RD85|Q9UNS0	Silent	SNP	ENST00000544348.1	37	c.48C>T	CCDS8099.1																																																																																				0.627	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1		NM_006779		6	58	0	0	0	0.001168	0	6	58		
PC	5091	broad.mit.edu	37	11	66619932	66619932	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:66619932G>C	ENST00000393958.2	-	14	1896	c.1803C>G	c.(1801-1803)ctC>ctG	p.L601L	PC_ENST00000393960.1_Silent_p.L601L|PC_ENST00000529047.1_5'Flank|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Silent_p.L601L	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	601	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCATGCTGAAGAGCTTGCTGA	0.622																																						uc001ojn.1		NaN																	0				ovary(2)|lung(1)|kidney(1)	4						c.(1801-1803)CTC>CTG		pyruvate carboxylase precursor	Biotin(DB00121)|Pyruvic acid(DB00119)						65.0	63.0	64.0					11																	66619932		2200	4295	6495	SO:0001819	synonymous_variant	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66619932G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.1803C>G	11.37:g.66619932G>C						PC_uc001ojo.1_Silent_p.L601L|PC_uc001ojp.1_Silent_p.L601L|PC_uc001ojm.1_5'Flank	p.L601L	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	13	1852	-		Melanoma(852;0.0525)	601			Carboxyltransferase.		B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	c.1803C>G	CCDS8152.1																																																																																				0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1		NM_001040716		7	139	0	0	0	0.001984	0	7	139		
CABP4	57010	broad.mit.edu	37	11	67223786	67223786	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:67223786C>T	ENST00000325656.5	+	3	491	c.414C>T	c.(412-414)ttC>ttT	p.F138F	CABP4_ENST00000438189.2_Silent_p.F33F	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	138	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGGCCGCCTTCGAGGAGTTTG	0.652																																						uc001olo.2		NaN																	0					0						c.(412-414)TTC>TTT		calcium binding protein 4							91.0	84.0	86.0					11																	67223786		2200	4295	6495	SO:0001819	synonymous_variant	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223786C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.414C>T	11.37:g.67223786C>T						CABP4_uc001oln.2_Silent_p.F33F	p.F138F	NM_145200	NP_660201	P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		3	491	+			138			EF-hand 1.		Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	c.414C>T	CCDS8166.1																																																																																				0.652	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2				29	163	0	0	0	0.012213	0	29	163		
NUMA1	4926	broad.mit.edu	37	11	71726086	71726086	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:71726086C>A	ENST00000393695.3	-	15	2794	c.2463G>T	c.(2461-2463)caG>caT	p.Q821H	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.Q821H|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCTCCTCTTGCTGGCTATCCT	0.577			T	RARA	APL																																	uc001orl.1		NaN		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(2461-2463)CAG>CAT		nuclear mitotic apparatus protein 1							100.0	98.0	99.0					11																	71726086		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71726086C>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.2463G>T	11.37:g.71726086C>A	ENSP00000377298:p.Gln821His					NUMA1_uc009ysw.1_Missense_Mutation_p.Q384H|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.Q821H|NUMA1_uc001orn.2_Missense_Mutation_p.Q384H|NUMA1_uc009ysx.1_Missense_Mutation_p.Q821H|NUMA1_uc001oro.1_Missense_Mutation_p.Q821H	p.Q821H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	2635	-			821			Potential.			Missense_Mutation	SNP	ENST00000393695.3	37	c.2463G>T	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.166055	0.57476	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977	T;T;T	0.34072	2.58;2.58;1.38	5.91	5.0	0.66597	.	0.205124	0.35124	N	0.003437	T	0.52757	0.1754	L	0.53249	1.67	0.37281	D	0.907831	D;D;D;D	0.67145	0.996;0.996;0.99;0.99	P;D;P;P	0.63877	0.81;0.919;0.81;0.875	T	0.61372	-0.7076	10	0.59425	D	0.04	.	14.4967	0.67694	0.0:0.9292:0.0:0.0708	.	827;305;821;821	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	H	821;821;384;821	ENSP00000351851:Q821H;ENSP00000377298:Q821H;ENSP00000444880:Q821H	ENSP00000351851:Q821H	Q	-	3	2	NUMA1	71403734	0.995000	0.38212	0.980000	0.43619	0.809000	0.45718	1.407000	0.34657	1.505000	0.48720	0.655000	0.94253	CAG		0.577	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1				33	255	1	0	1.99505e-19	0.012213	2.7951e-19	33	255		
FOLR2	2350	broad.mit.edu	37	11	71932735	71932735	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:71932735G>C	ENST00000298223.6	+	5	884	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	FOLR2_ENST00000449475.2_Missense_Mutation_p.E229Q|FOLR2_ENST00000454954.2_Missense_Mutation_p.E192Q	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	233					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GAATGCTGGTGAGATGCTTCA	0.587																																						uc009ytd.2		NaN																	0				breast(2)|ovary(1)	3						c.(697-699)GAG>CAG		folate receptor 2 precursor	Folic Acid(DB00158)						79.0	78.0	79.0					11																	71932735		2200	4293	6493	SO:0001583	missense	2350				folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity	g.chr11:71932735G>C	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.697G>C	11.37:g.71932735G>C	ENSP00000298223:p.Glu233Gln					FOLR2_uc009yte.2_Missense_Mutation_p.E233Q|FOLR2_uc001ose.3_Missense_Mutation_p.E233Q|FOLR2_uc009ytf.2_Missense_Mutation_p.E233Q	p.E233Q	NM_001113534	NP_001107006	P14207	FOLR2_HUMAN			5	866	+			233					Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	c.697G>C	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	g	7.742	0.701456	0.15172	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000454954	T;T;T	0.80653	-0.83;-0.8;-1.4	3.82	0.886	0.19194	.	11.573100	0.00575	N	0.000318	T	0.65863	0.2732	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.18263	0.021	T	0.51204	-0.8735	10	0.23302	T	0.38	.	4.5808	0.12257	0.298:0.1634:0.5386:0.0	.	233	P14207	FOLR2_HUMAN	Q	229;233;192	ENSP00000405638:E229Q;ENSP00000298223:E233Q;ENSP00000414094:E192Q	ENSP00000298223:E233Q	E	+	1	0	FOLR2	71610383	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.798000	0.27014	0.207000	0.20607	-0.448000	0.05591	GAG		0.587	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2		NM_000803		13	161	0	0	0	0.013537	0	13	161		
ARRB1	408	broad.mit.edu	37	11	74977287	74977287	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:74977287G>A	ENST00000420843.2	-	16	1274	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	CTD-2562J17.9_ENST00000529304.1_RNA|ARRB1_ENST00000360025.3_Missense_Mutation_p.R385C|ARRB1_ENST00000393505.4_Missense_Mutation_p.R393C	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	393	Interaction with TRAF6.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						AGTCTCTGGCGAGCAAAGTCC	0.547																																						uc001owe.1		NaN																	0				breast(2)	2						c.(1177-1179)CGC>TGC		arrestin beta 1 isoform A							181.0	136.0	151.0					11																	74977287		2200	4293	6493	SO:0001583	missense	408				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:74977287G>A	BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"""arrestin 2"""	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1177C>T	11.37:g.74977287G>A	ENSP00000409581:p.Arg393Cys					ARRB1_uc001owf.1_Missense_Mutation_p.R385C	p.R393C	NM_004041	NP_004032	P49407	ARRB1_HUMAN			16	1399	-			393	R->A: Abolishes interaction with AP2B1.		Interaction with TRAF6.|[DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif.		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Missense_Mutation	SNP	ENST00000420843.2	37	c.1177C>T	CCDS44684.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318328	0.81469	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532447	T;T;T	0.17054	2.31;2.3;2.31	4.97	3.99	0.46301	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.64402	D	0.000003	T	0.40645	0.1125	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.35101	-0.9802	10	0.87932	D	0	-11.4953	11.7836	0.52028	0.0:0.0:0.8235:0.1764	.	385;393	P49407-2;P49407	.;ARRB1_HUMAN	C	393;393;385;192	ENSP00000409581:R393C;ENSP00000377141:R393C;ENSP00000353124:R385C	ENSP00000353124:R385C	R	-	1	0	ARRB1	74654935	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.052000	0.76634	2.314000	0.78098	0.563000	0.77884	CGC		0.547	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384092.3		NM_004041		28	152	0	0	0	0.00632	0	28	152		
FAT3	120114	broad.mit.edu	37	11	92533025	92533025	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:92533025C>A	ENST00000298047.6	+	9	6863	c.6846C>A	c.(6844-6846)gaC>gaA	p.D2282E	FAT3_ENST00000409404.2_Missense_Mutation_p.D2282E|FAT3_ENST00000525166.1_Missense_Mutation_p.D2132E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2282	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGTAAATGACAACCCCCCTA	0.423										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	0				ovary(4)|pancreas(1)	5						c.(6844-6846)GAC>GAA		FAT tumor suppressor homolog 3							98.0	88.0	91.0					11																	92533025		1920	4131	6051	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533025C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6846C>A	11.37:g.92533025C>A	ENSP00000298047:p.Asp2282Glu	TCGA Ovarian(4;0.039)					p.D2282E	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6863	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2282			Cadherin 20.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6846C>A		.	.	.	.	.	.	.	.	.	.	C	14.97	2.694141	0.48202	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.74526	-0.85;-0.85;-0.85	5.94	3.74	0.42951	.	.	.	.	.	D	0.88731	0.6516	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90805	0.4697	9	0.72032	D	0.01	.	11.6195	0.51108	0.0:0.7815:0.0:0.2185	.	2282	Q8TDW7-3	.	E	2282;2282;2132	ENSP00000298047:D2282E;ENSP00000387040:D2282E;ENSP00000432586:D2132E	ENSP00000298047:D2282E	D	+	3	2	FAT3	92172673	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.380000	0.34351	1.494000	0.48533	0.650000	0.86243	GAC		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		4	14	1	0	0.00024832	0.009096	0.000317298	4	14		
CASP5	838	broad.mit.edu	37	11	104877904	104877904	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:104877904C>T	ENST00000260315.3	-	3	338	c.339G>A	c.(337-339)ctG>ctA	p.L113L	CASP5_ENST00000393141.2_Silent_p.L126L|CASP5_ENST00000526056.1_Silent_p.L126L|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Silent_p.L80L|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Silent_p.L55L			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	113	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CTACCAAGATCAGGGCCTTGT	0.368																																						uc010rva.1		NaN																	0				ovary(2)|lung(1)	3						c.(337-339)CTG>CTA		caspase 5 isoform a precursor							161.0	157.0	158.0					11																	104877904		2202	4299	6501	SO:0001819	synonymous_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104877904C>T		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.339G>A	11.37:g.104877904C>T						CASP5_uc010ruz.1_Silent_p.L126L|CASP5_uc010rvb.1_Silent_p.L55L|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron	p.L113L	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	3	371	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	113			CARD.		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	ENST00000260315.3	37	c.339G>A	CCDS8328.2																																																																																				0.368	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2		NM_004347		12	26	0	0	0	0.013537	0	12	26		
RDX	5962	broad.mit.edu	37	11	110128893	110128893	+	Silent	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:110128893T>G	ENST00000343115.4	-	6	808	c.489A>C	c.(487-489)ctA>ctC	p.L163L	RDX_ENST00000528900.1_Intron|RDX_ENST00000405097.1_Silent_p.L163L|RDX_ENST00000528498.1_Silent_p.L163L|RDX_ENST00000530301.1_Silent_p.L131L|RDX_ENST00000544551.1_Silent_p.L27L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GTTCTTTTGTTAGTTTGTGTT	0.294																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	uc001pku.2		NaN																	0					0						c.(487-489)CTA>CTC		radixin							186.0	165.0	172.0					11																	110128893		2201	4297	6498	SO:0001819	synonymous_variant	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110128893T>G	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.489A>C	11.37:g.110128893T>G						RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Silent_p.L163L|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Silent_p.L131L|RDX_uc010rwe.1_Silent_p.L27L	p.L163L	NM_002906	NP_002897	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	6	799	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	163			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Silent	SNP	ENST00000343115.4	37	c.489A>C	CCDS8343.1																																																																																				0.294	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2		NM_002906		9	34	0	0	0	0.008291	0	9	34		
BUD13	84811	broad.mit.edu	37	11	116633707	116633707	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:116633707G>A	ENST00000260210.4	-	4	621	c.598C>T	c.(598-600)Cct>Tct	p.P200S	BUD13_ENST00000375445.3_Missense_Mutation_p.P200S	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	200	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GGGGGAGAAGGATCTGGAGAA	0.567																																						uc001ppn.2		NaN																	0				large_intestine(1)|pancreas(1)	2						c.(598-600)CCT>TCT		BUD13 homolog isoform 1							114.0	118.0	116.0					11																	116633707		2201	4296	6497	SO:0001583	missense	84811							g.chr11:116633707G>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.598C>T	11.37:g.116633707G>A	ENSP00000260210:p.Pro200Ser					BUD13_uc001ppo.2_Missense_Mutation_p.P200S|BUD13_uc009yzc.2_Missense_Mutation_p.P200S	p.P200S	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	632	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	200			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.598C>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.496538	0.01001	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.18960	2.25;2.18	5.08	-0.252	0.12999	.	1.436420	0.04059	N	0.305993	T	0.18800	0.0451	L	0.29908	0.895	0.09310	N	0.999991	B;B;B	0.14012	0.004;0.0;0.009	B;B;B	0.12156	0.002;0.001;0.007	T	0.41893	-0.9483	10	0.87932	D	0	4.0812	10.7097	0.45975	0.3714:0.0:0.6286:0.0	.	200;200;200	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	S	200	ENSP00000364594:P200S;ENSP00000260210:P200S	ENSP00000260210:P200S	P	-	1	0	BUD13	116138917	0.000000	0.05858	0.077000	0.20336	0.039000	0.13416	-0.503000	0.06383	0.064000	0.16427	-0.140000	0.14226	CCT		0.567	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1		NM_032725		38	115	0	0	0	0.005524	0	38	115		
SIDT2	51092	broad.mit.edu	37	11	117052804	117052804	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:117052804A>T	ENST00000324225.4	+	4	1030	c.499A>T	c.(499-501)Aca>Tca	p.T167S	SIDT2_ENST00000530948.1_Intron|SIDT2_ENST00000431081.2_Missense_Mutation_p.T167S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	167					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTTCAATACCACAGCAGCACA	0.597																																						uc001pqh.1		NaN																	0					0						c.(499-501)ACA>TCA		SID1 transmembrane family, member 2 precursor							43.0	45.0	44.0					11																	117052804		2201	4296	6497	SO:0001583	missense	51092					integral to membrane|lysosomal membrane		g.chr11:117052804A>T	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.499A>T	11.37:g.117052804A>T	ENSP00000314023:p.Thr167Ser					SIDT2_uc010rxe.1_Missense_Mutation_p.T167S|SIDT2_uc001pqg.2_Missense_Mutation_p.T167S|SIDT2_uc001pqi.1_Missense_Mutation_p.T167S	p.T167S	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	4	540	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	167			Extracellular (Potential).		Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	c.499A>T	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	A	4.249	0.045298	0.08196	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842;ENST00000531353	T;T;T	0.15487	2.42;2.43;2.42	5.14	5.14	0.70334	.	0.061993	0.64402	D	0.000004	T	0.09905	0.0243	N	0.17082	0.46	0.47698	D	0.999499	B;B;B;B	0.19583	0.005;0.037;0.003;0.003	B;B;B;B	0.20184	0.013;0.028;0.006;0.006	T	0.06373	-1.0830	10	0.05721	T	0.95	-11.2303	13.6844	0.62506	1.0:0.0:0.0:0.0	.	167;167;167;167	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	S	167;167;167;17;66	ENSP00000314023:T167S;ENSP00000278951:T167S;ENSP00000399635:T167S	ENSP00000278951:T167S	T	+	1	0	SIDT2	116558014	1.000000	0.71417	0.928000	0.36995	0.730000	0.41778	4.714000	0.61902	2.161000	0.67846	0.459000	0.35465	ACA		0.597	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1		NM_015996		6	23	0	0	0	0.00308	0	6	23		
CCDC84	338657	broad.mit.edu	37	11	118881534	118881534	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:118881534C>T	ENST00000334418.1	+	4	500	c.444C>T	c.(442-444)atC>atT	p.I148I	CCDC84_ENST00000580556.1_3'UTR	NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	148										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		ATAAAGTGATCAAGGAGGTAA	0.468																																						uc001pul.2		NaN																	0				ovary(1)	1						c.(442-444)ATC>ATT		coiled-coil domain containing 84							91.0	87.0	89.0					11																	118881534		2200	4295	6495	SO:0001819	synonymous_variant	338657							g.chr11:118881534C>T	AB094093	CCDS8405.1	11q23.3	2006-03-13			ENSG00000186166	ENSG00000186166			30460	protein-coding gene	gene with protein product							Standard	NM_198489		Approved	DLNB14	uc001pul.3	Q86UT8	OTTHUMG00000166348	ENST00000334418.1:c.444C>T	11.37:g.118881534C>T						CCDC84_uc010ryk.1_RNA|CCDC84_uc010ryl.1_RNA|CCDC84_uc010rym.1_RNA	p.I148I	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	4	500	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)	148			Potential.			Silent	SNP	ENST00000334418.1	37	c.444C>T	CCDS8405.1																																																																																				0.468	CCDC84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389315.1		NM_198489		7	41	0	0	0	0.00308	0	7	41		
TECTA	7007	broad.mit.edu	37	11	121016422	121016422	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:121016422G>T	ENST00000392793.1	+	12	3973	c.3702G>T	c.(3700-3702)caG>caT	p.Q1234H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q1234H|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1234	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGCATGCAGAACAGCACCT	0.527																																						uc010rzo.1		NaN																	0				breast(6)|ovary(2)|skin(2)	10						c.(3700-3702)CAG>CAT		tectorin alpha precursor							157.0	126.0	137.0					11																	121016422		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016422G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3702G>T	11.37:g.121016422G>T	ENSP00000376543:p.Gln1234His						p.Q1234H	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	11	3702	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1234			VWFD 3.			Missense_Mutation	SNP	ENST00000392793.1	37	c.3702G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	6.056	0.378745	0.11466	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.61274	0.12;0.12	5.76	4.84	0.62591	von Willebrand factor, type D domain (3);	0.201829	0.44902	D	0.000419	T	0.44973	0.1319	L	0.41710	1.295	0.34280	D	0.682001	B	0.06786	0.001	B	0.08055	0.003	T	0.49000	-0.8984	10	0.16896	T	0.51	.	11.2511	0.49026	0.1406:0.0:0.8594:0.0	.	1234	O75443	TECTA_HUMAN	H	1234	ENSP00000376543:Q1234H;ENSP00000264037:Q1234H	ENSP00000264037:Q1234H	Q	+	3	2	TECTA	120521632	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.279000	0.51670	2.721000	0.93114	0.591000	0.81541	CAG		0.527	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422		20	71	1	0	1.15919e-05	0.008871	1.50913e-05	20	71		
OR8B4	283162	broad.mit.edu	37	11	124294480	124294480	+	Silent	SNP	A	A	G	rs142136468		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:124294480A>G	ENST00000356130.3	-	1	309	c.288T>C	c.(286-288)tgT>tgC	p.C96C		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCTGAGTCATACATCCCACAT	0.403																																						uc010sak.1		NaN																	0				skin(1)	1						c.(286-288)TGT>TGC		olfactory receptor, family 8, subfamily B,		A		0,4402		0,0,2201	106.0	104.0	104.0		288	2.7	1.0	11	dbSNP_134	104	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	OR8B4	NM_001005196.1		0,2,6498	GG,GA,AA		0.0233,0.0,0.0154		96/310	124294480	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294480A>G	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.288T>C	11.37:g.124294480A>G							p.C96C	NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	288	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	96			Extracellular (Potential).		B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	c.288T>C	CCDS31710.1																																																																																				0.403	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1		NM_001005196		10	37	0	0	0	0.006214	0	10	37		
OPCML	4978	broad.mit.edu	37	11	132812893	132812893	+	Missense_Mutation	SNP	C	C	A	rs374001465		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr11:132812893C>A	ENST00000331898.7	-	1	673	c.95G>T	c.(94-96)cGc>cTc	p.R32L	OPCML_ENST00000374778.4_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.R32L|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000524381.1_Missense_Mutation_p.R25L	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	32					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ATCTCCGCTGCGCACGGGCAC	0.647																																						uc001qgs.2		NaN																	0				ovary(2)|skin(1)	3						c.(94-96)CGC>CTC		opioid binding protein/cell adhesion							68.0	69.0	69.0					11																	132812893		2200	4276	6476	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812893C>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.95G>T	11.37:g.132812893C>A	ENSP00000330862:p.Arg32Leu					OPCML_uc001qgu.2_Missense_Mutation_p.R25L|OPCML_uc010sck.1_Missense_Mutation_p.R32L|OPCML_uc001qgt.2_Missense_Mutation_p.R32L|OPCML_uc010scl.1_5'UTR	p.R32L	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	1	145	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	32					B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.95G>T	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621514	0.87460	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000416724;ENST00000541867	T;T;T	0.63255	0.35;0.34;-0.03	5.6	5.6	0.85130	.	0.076614	0.45126	D	0.000385	T	0.65533	0.2700	M	0.71581	2.175	0.54753	D	0.999987	B;B;B;B	0.20261	0.019;0.043;0.043;0.043	B;B;B;B	0.19148	0.016;0.024;0.024;0.024	T	0.62849	-0.6767	10	0.52906	T	0.07	-9.8365	19.6202	0.95653	0.0:1.0:0.0:0.0	.	32;25;32;32	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	32;25;25;32	ENSP00000330862:R32L;ENSP00000434750:R25L;ENSP00000445496:R32L	ENSP00000330862:R32L	R	-	2	0	OPCML	132318103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.573000	0.60893	2.649000	0.89929	0.655000	0.94253	CGC		0.647	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3		NM_001012393		54	30	1	0	1.3268e-25	0.01441	1.87154e-25	54	30		
ERC1	23085	broad.mit.edu	37	12	1599298	1599298	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:1599298G>A	ENST00000397203.2	+	19	3659	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	ERC1_ENST00000355446.5_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.E1085K|ERC1_ENST00000589028.1_Missense_Mutation_p.E1085K|ERC1_ENST00000543086.3_Missense_Mutation_p.E1057K|ERC1_ENST00000546231.2_Missense_Mutation_p.E1089K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	1085	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGACAATGCAGAACTGCAGGA	0.483																																						uc001qjb.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(3253-3255)GAA>AAA		RAB6-interacting protein 2 isoform epsilon							114.0	96.0	102.0					12																	1599298		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1599298G>A	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.3253G>A	12.37:g.1599298G>A	ENSP00000380386:p.Glu1085Lys					ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E1057K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_3'UTR|ERC1_uc001qje.2_RNA	p.E1085K	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		19	3494	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		1085			Potential.|FIP-RBD.		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.3253G>A	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499502	0.64298	.	.	ENSG00000082805	ENST00000397203;ENST00000543086;ENST00000546231;ENST00000360905	T;T;T	0.26518	1.73;1.75;1.73	5.72	5.72	0.89469	Rab-binding domain FIP-RBD (2);	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.29908	0.895	0.48395	D	0.999645	P;B	0.50156	0.932;0.001	P;B	0.45428	0.48;0.007	T	0.00792	-1.1564	10	0.45353	T	0.12	-21.6982	15.072	0.72046	0.0697:0.0:0.9303:0.0	.	1057;1085	Q8IUD2-3;Q8IUD2	.;RB6I2_HUMAN	K	1085;1057;1085;1085	ENSP00000380386:E1085K;ENSP00000438546:E1057K;ENSP00000354158:E1085K	ENSP00000354158:E1085K	E	+	1	0	ERC1	1469559	1.000000	0.71417	0.165000	0.22776	0.172000	0.22775	7.822000	0.86651	2.702000	0.92279	0.650000	0.86243	GAA		0.483	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2		NM_015064		38	78	0	0	0	0.006999	0	38	78		
PRMT8	56341	broad.mit.edu	37	12	3649850	3649850	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:3649850C>G	ENST00000382622.3	+	2	544	c.154C>G	c.(154-156)Caa>Gaa	p.Q52E	PRMT8_ENST00000452611.2_Missense_Mutation_p.Q43E|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	52					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGTGTCCACTCAACCCAGCTG	0.602																																						uc001qmf.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(154-156)CAA>GAA		HMT1 hnRNP methyltransferase-like 4							182.0	186.0	185.0					12																	3649850		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649850C>G	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.154C>G	12.37:g.3649850C>G	ENSP00000372067:p.Gln52Glu					PRMT8_uc009zed.2_Missense_Mutation_p.Q43E|PRMT8_uc009zee.1_RNA	p.Q52E	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	521	+			52					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.154C>G	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.120485	0.37436	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.25250	1.81;1.82	5.64	5.64	0.86602	.	0.379761	0.29165	N	0.012948	T	0.14917	0.0360	N	0.14661	0.345	0.41821	D	0.990021	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.06180	-1.0841	10	0.02654	T	1	.	17.1919	0.86882	0.0:1.0:0.0:0.0	.	43;52	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	E	43;52	ENSP00000414507:Q43E;ENSP00000372067:Q52E	ENSP00000372067:Q52E	Q	+	1	0	PRMT8	3520111	1.000000	0.71417	0.544000	0.28141	0.952000	0.60782	4.759000	0.62227	2.659000	0.90383	0.563000	0.77884	CAA		0.602	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2		NM_019854		54	339	0	0	0	0.01441	0	54	339		
C12orf4	57102	broad.mit.edu	37	12	4599751	4599751	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:4599751G>A	ENST00000261250.3	-	13	1590	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	C12orf4_ENST00000545746.1_Silent_p.F501F	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	501										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTTCCATCATGAAACCTAAAA	0.388																																						uc001qms.2		NaN																	0					0						c.(1501-1503)TTC>TTT		hypothetical protein LOC57102							96.0	94.0	95.0					12																	4599751		2203	4300	6503	SO:0001819	synonymous_variant	57102							g.chr12:4599751G>A	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1503C>T	12.37:g.4599751G>A						C12orf4_uc001qmt.2_Silent_p.F501F	p.F501F	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	13	1591	-			501					D3DUQ8|Q6MZH5	Silent	SNP	ENST00000261250.3	37	c.1503C>T	CCDS8528.1																																																																																				0.388	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1		NM_020374		7	24	0	0	0	0.00308	0	7	24		
VWF	7450	broad.mit.edu	37	12	6143929	6143929	+	Silent	SNP	G	G	A	rs141982646	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6143929G>A	ENST00000261405.5	-	20	2864	c.2610C>T	c.(2608-2610)atC>atT	p.I870I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	870	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGGCCATGCCGATCGTGGAGC	0.587													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		20791	0.0		0.0	False		,,,				2504	0.0					uc001qnn.1		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(2608-2610)ATC>ATT		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)	G		16,4390	22.3+/-47.3	0,16,2187	189.0	149.0	163.0		2610	-3.6	0.1	12	dbSNP_134	163	0,8600		0,0,4300	no	coding-synonymous	VWF	NM_000552.3		0,16,6487	AA,AG,GG		0.0,0.3631,0.123		870/2814	6143929	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6143929G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2610C>T	12.37:g.6143929G>A						VWF_uc010set.1_Intron	p.I870I	NM_000552	NP_000543	P04275	VWF_HUMAN			20	2860	-			870			VWFD 3.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.2610C>T	CCDS8539.1																																																																																				0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		19	74	0	0	0	0.010504	0	19	74		
IFFO1	25900	broad.mit.edu	37	12	6664602	6664602	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6664602C>T	ENST00000396840.2	-	1	635	c.594G>A	c.(592-594)tcG>tcA	p.S198S	NOP2_ENST00000542015.1_5'Flank|IFFO1_ENST00000356896.4_Silent_p.S198S|IFFO1_ENST00000336604.4_Silent_p.S198S			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	198						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CGTGCGAGAACGACCAGATGG	0.716																																						uc001qpd.1		NaN																	0					0						c.(592-594)TCG>TCA		intermediate filament family orphan isoform 2							26.0	31.0	29.0					12																	6664602		2201	4298	6499	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6664602C>T	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.594G>A	12.37:g.6664602C>T						IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.S198S|IFFO1_uc001qpf.1_Silent_p.S198S|IFFO1_uc001qpc.1_Silent_p.S198S	p.S198S	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			1	628	-			198					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.594G>A																																																																																					0.716	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1		NM_080730		5	34	0	0	0	0.014758	0	5	34		
ACRBP	84519	broad.mit.edu	37	12	6749264	6749264	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:6749264C>G	ENST00000229243.2	-	8	1480	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.E430Q	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTAAGGAACTCAGTCTGGAGC	0.562																																						uc001qpu.1		NaN																	0				central_nervous_system(1)	1						c.(1387-1389)GAG>CAG		proacrosin binding protein sp32 precursor							76.0	75.0	75.0					12																	6749264		2203	4300	6503	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6749264C>G	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1387G>C	12.37:g.6749264C>G	ENSP00000229243:p.Glu463Gln					LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.E430Q	p.E463Q	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN			8	1435	-			463						Missense_Mutation	SNP	ENST00000229243.2	37	c.1387G>C	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828910	0.71258	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	T;T	0.62498	0.02;0.05	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000005	T	0.71358	0.3330	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.74321	-0.3703	10	0.87932	D	0	-28.7262	17.0688	0.86567	0.0:1.0:0.0:0.0	.	430;463	E7EP66;Q8NEB7	.;ACRBP_HUMAN	Q	463;430	ENSP00000229243:E463Q;ENSP00000402725:E430Q	ENSP00000229243:E463Q	E	-	1	0	ACRBP	6619525	0.998000	0.40836	0.955000	0.39395	0.468000	0.32798	4.826000	0.62715	2.548000	0.85928	0.561000	0.74099	GAG		0.562	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1		NM_032489		12	65	0	0	0	0.020292	0	12	65		
NANOG	79923	broad.mit.edu	37	12	7942264	7942264	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:7942264C>G	ENST00000229307.4	+	1	273	c.54C>G	c.(52-54)gaC>gaG	p.D18E	NANOG_ENST00000526286.1_Missense_Mutation_p.D18E	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	18					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGCATCCGACTGTAAAGAAT	0.453																																						uc009zfy.1		NaN																	0					0						c.(52-54)GAC>GAG		Nanog homeobox							165.0	152.0	157.0					12																	7942264		2203	4300	6503	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7942264C>G	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.54C>G	12.37:g.7942264C>G	ENSP00000229307:p.Asp18Glu						p.D18E	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	270	+			18					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.54C>G	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	9.031	0.987251	0.18889	.	.	ENSG00000111704	ENST00000229307;ENST00000526286	D;D	0.90563	-2.69;-2.66	3.24	-2.05	0.07321	.	0.488028	0.19699	N	0.108089	T	0.78188	0.4244	L	0.29908	0.895	0.09310	N	1	B	0.25563	0.129	B	0.21708	0.036	T	0.64508	-0.6391	10	0.06494	T	0.89	-0.8013	7.5951	0.28044	0.0:0.5192:0.0:0.4808	.	18	Q9H9S0	NANOG_HUMAN	E	18	ENSP00000229307:D18E;ENSP00000435288:D18E	ENSP00000229307:D18E	D	+	3	2	NANOG	7833531	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.561000	0.05957	-0.432000	0.07297	-0.379000	0.06801	GAC		0.453	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2		NM_024865		22	112	0	0	0	0.016522	0	22	112		
A2ML1	144568	broad.mit.edu	37	12	8988223	8988223	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:8988223G>A	ENST00000299698.7	+	6	784	c.604G>A	c.(604-606)Gag>Aag	p.E202K		NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGCAGTGGCTGAGGGCAAGAC	0.507																																						uc001quz.3		NaN																	0				ovary(2)|skin(1)	3						c.(604-606)GAG>AAG		alpha-2-macroglobulin-like 1 precursor							93.0	98.0	96.0					12																	8988223		2038	4180	6218	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8988223G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.604G>A	12.37:g.8988223G>A	ENSP00000299698:p.Glu202Lys						p.E202K	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			6	702	+			46						Missense_Mutation	SNP	ENST00000299698.7	37	c.604G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320844	0.23994	.	.	ENSG00000166535	ENST00000299698;ENST00000539161	T	0.73363	-0.74	3.88	2.96	0.34315	Alpha-2-macroglobulin, N-terminal (1);	.	.	.	.	T	0.59238	0.2179	L	0.43923	1.385	0.80722	D	1	B	0.12630	0.006	B	0.16722	0.016	T	0.48714	-0.9011	9	0.02654	T	1	.	8.7284	0.34483	0.0:0.0:0.774:0.226	.	202	A8K2U0	A2ML1_HUMAN	K	202	ENSP00000299698:E202K	ENSP00000299698:E202K	E	+	1	0	A2ML1	8879490	0.011000	0.17503	0.936000	0.37596	0.859000	0.49053	0.967000	0.29344	1.167000	0.42706	0.561000	0.74099	GAG		0.507	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3		NM_144670		23	74	0	0	0	0.021523	0	23	74		
MANSC1	54682	broad.mit.edu	37	12	12483751	12483751	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:12483751C>G	ENST00000535902.1	-	4	1069	c.506G>C	c.(505-507)aGa>aCa	p.R169T	MANSC1_ENST00000545735.1_Missense_Mutation_p.R88T|MANSC1_ENST00000396349.3_Missense_Mutation_p.R135T			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	169						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AAGTGTGTCTCTCCATGAGAT	0.448																																						uc001rai.1		NaN																	0					0						c.(505-507)AGA>ACA		MANSC domain containing 1 precursor							85.0	82.0	83.0					12																	12483751		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12483751C>G	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.506G>C	12.37:g.12483751C>G	ENSP00000438205:p.Arg169Thr					MANSC1_uc010shm.1_Missense_Mutation_p.R103T|MANSC1_uc001raj.1_Missense_Mutation_p.R135T|MANSC1_uc009zht.1_Missense_Mutation_p.R88T	p.R169T	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	764	-		Prostate(47;0.0865)	169			Extracellular (Potential).		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.506G>C	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678732	0.29783	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.22743	2.26;2.26;1.94	5.03	-6.17	0.02091	.	1.157040	0.06606	N	0.754734	T	0.12603	0.0306	L	0.27053	0.805	0.09310	N	1	B;B;B	0.24186	0.001;0.001;0.099	B;B;B	0.21917	0.001;0.001;0.037	T	0.33163	-0.9879	10	0.33940	T	0.23	-0.8005	8.9236	0.35625	0.0:0.1855:0.1255:0.689	.	103;135;169	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	T	169;135;88;88	ENSP00000438205:R169T;ENSP00000379638:R135T;ENSP00000445303:R88T	ENSP00000347765:R88T	R	-	2	0	MANSC1	12375018	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.409000	0.07160	-1.190000	0.02698	-0.424000	0.05967	AGA		0.448	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1		NM_018050		16	100	0	0	0	0.00499	0	16	100		
GSG1	83445	broad.mit.edu	37	12	13240941	13240941	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:13240941G>A	ENST00000396302.3	-	4	748	c.550C>T	c.(550-552)Cat>Tat	p.H184Y	GSG1_ENST00000432710.2_Silent_p.F155F|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000351606.6_Missense_Mutation_p.H220Y|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000337630.6_Silent_p.F142F|GSG1_ENST00000537302.1_Intron|GSG1_ENST00000324458.8_Silent_p.F178F	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GGAAGCTGATGAATTGAAGTC	0.512																																						uc001rbn.2		NaN																	0					0						c.(532-534)TTC>TTT		germ cell associated 1 isoform 4							147.0	143.0	144.0					12																	13240941		2203	4300	6503	SO:0001583	missense	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13240941G>A	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000396302.3:c.550C>T	12.37:g.13240941G>A	ENSP00000379596:p.His184Tyr					GSG1_uc001rbj.2_Silent_p.F142F|GSG1_uc001rbk.2_Missense_Mutation_p.H184Y|GSG1_uc001rbl.2_Intron|GSG1_uc001rbm.2_Intron|GSG1_uc001rbo.2_Missense_Mutation_p.H220Y|GSG1_uc001rbp.2_Silent_p.F155F|GSG1_uc001rbq.1_Missense_Mutation_p.H220Y	p.F178F	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	5	707	-		Prostate(47;0.183)	165			Helical; (Potential).		Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Silent	SNP	ENST00000396302.3	37	c.534C>T	CCDS8659.2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810599	0.50421	.	.	ENSG00000111305	ENST00000396302;ENST00000351606;ENST00000405543;ENST00000545401	T;T;T	0.35605	1.52;1.3;1.56	5.73	4.79	0.61399	.	.	.	.	.	T	0.47248	0.1435	.	.	.	0.80722	D	1	D;D;P	0.59767	0.986;0.969;0.947	P;P;P	0.51016	0.656;0.656;0.454	T	0.50693	-0.8798	8	0.72032	D	0.01	.	15.2591	0.73606	0.0:0.3228:0.6772:0.0	.	220;220;184	Q2KHT4-7;G3XAB9;F1T0A0	.;.;.	Y	184;220;181;197	ENSP00000379596:H184Y;ENSP00000336857:H220Y;ENSP00000445884:H197Y	ENSP00000336857:H220Y	H	-	1	0	GSG1	13132208	1.000000	0.71417	0.766000	0.31476	0.993000	0.82548	3.185000	0.50934	2.708000	0.92522	0.655000	0.94253	CAT		0.512	GSG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316545.1		NM_031289		22	141	0	0	0	0.004656	0	22	141		
GRIN2B	2904	broad.mit.edu	37	12	13768066	13768066	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:13768066A>T	ENST00000609686.1	-	7	1845	c.1636T>A	c.(1636-1638)Tca>Aca	p.S546T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	546					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCAGAAGGTGAGACAGTCCCA	0.498																																						uc001rbt.2		NaN																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(1636-1638)TCA>ACA		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						181.0	144.0	157.0					12																	13768066		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768066A>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1636T>A	12.37:g.13768066A>T	ENSP00000477455:p.Ser546Thr						p.S546T	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			7	1815	-			546			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1636T>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998960	0.74818	.	.	ENSG00000150086	ENST00000279593	T	0.52057	0.68	6.06	6.06	0.98353	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.64997	1.995	0.80722	D	1	P	0.48350	0.909	P	0.56278	0.795	T	0.61272	-0.7096	10	0.45353	T	0.12	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	546	Q13224	NMDE2_HUMAN	T	546	ENSP00000279593:S546T	ENSP00000279593:S546T	S	-	1	0	GRIN2B	13659333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.334000	0.96470	2.324000	0.78689	0.533000	0.62120	TCA		0.498	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2				32	76	0	0	0	0.015359	0	32	76		
ERP27	121506	broad.mit.edu	37	12	15073907	15073907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:15073907C>A	ENST00000266397.2	-	4	982	c.409G>T	c.(409-411)Gag>Tag	p.E137*	ERP27_ENST00000540097.1_Nonsense_Mutation_p.E36*	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	137	Thioredoxin.					endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CTGTTGATCTCAATGAAACGG	0.438																																						uc001rco.2		NaN																	0				breast(1)	1						c.(409-411)GAG>TAG		endoplasmic reticulum protein 27 kDa precursor							315.0	273.0	287.0					12																	15073907		2203	4300	6503	SO:0001587	stop_gained	121506					endoplasmic reticulum lumen		g.chr12:15073907C>A	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.409G>T	12.37:g.15073907C>A	ENSP00000266397:p.Glu137*						p.E137*	NM_152321	NP_689534	Q96DN0	ERP27_HUMAN			4	430	-			137			Thioredoxin.			Nonsense_Mutation	SNP	ENST00000266397.2	37	c.409G>T	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761407	0.96906	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	.	.	.	4.6	0.479	0.16796	.	0.652839	0.15472	N	0.260540	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.056	5.5374	0.17020	0.0:0.4925:0.3206:0.187	.	.	.	.	X	137;36	.	ENSP00000266397:E137X	E	-	1	0	ERP27	14965174	0.015000	0.18098	0.009000	0.14445	0.207000	0.24258	0.078000	0.14761	-0.023000	0.13963	0.561000	0.74099	GAG		0.438	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1		NM_152321		5	65	1	0	0.000602214	0.014758	0.000762437	5	65		
SOX5	6660	broad.mit.edu	37	12	23893833	23893833	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:23893833G>T	ENST00000451604.2	-	5	810	c.709C>A	c.(709-711)Caa>Aaa	p.Q237K	SOX5_ENST00000381381.2_Missense_Mutation_p.Q224K|SOX5_ENST00000541536.1_Missense_Mutation_p.Q224K|SOX5_ENST00000541847.1_Missense_Mutation_p.Q227K|SOX5_ENST00000545921.1_Missense_Mutation_p.Q227K|SOX5_ENST00000537393.1_Missense_Mutation_p.Q202K|SOX5_ENST00000546136.1_Missense_Mutation_p.Q224K|SOX5_ENST00000309359.1_Missense_Mutation_p.Q224K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	237					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGCTCCATTTGCTGACGCTGT	0.498																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(709-711)CAA>AAA		SRY (sex determining region Y)-box 5 isoform a							132.0	120.0	124.0					12																	23893833		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23893833G>T	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.709C>A	12.37:g.23893833G>T	ENSP00000398273:p.Gln237Lys					SOX5_uc001rfx.2_Missense_Mutation_p.Q224K|SOX5_uc001rfy.2_Missense_Mutation_p.Q224K|SOX5_uc010siv.1_Missense_Mutation_p.Q224K|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.Q189K	p.Q237K	NM_006940	NP_008871	P35711	SOX5_HUMAN			5	811	-			237			Potential.		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.709C>A	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646848	0.96714	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847	D;D;D;D;D;D;D	0.98876	-5.09;-5.09;-5.2;-5.09;-5.1;-5.2;-5.09	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.84683	2.71	0.80722	D	1	D;P;D	0.63046	0.992;0.811;0.97	P;P;P	0.60012	0.867;0.828;0.688	D	0.99734	1.1013	10	0.87932	D	0	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	202;224;237	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	K	224;224;224;237;189;202;224;227;227	ENSP00000437487:Q224K;ENSP00000308927:Q224K;ENSP00000370788:Q224K;ENSP00000398273:Q237K;ENSP00000439832:Q202K;ENSP00000441973:Q224K;ENSP00000443520:Q227K	ENSP00000308927:Q224K	Q	-	1	0	SOX5	23785100	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.458000	0.97634	2.736000	0.93811	0.591000	0.81541	CAA		0.498	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		7	57	1	0	0.00198382	0.001984	0.00250015	7	57		
TM7SF3	51768	broad.mit.edu	37	12	27148173	27148173	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:27148173G>A	ENST00000343028.4	-	5	912	c.687C>T	c.(685-687)ctC>ctT	p.L229L	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	229						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					GATTTACCTTGAGAGCACTGG	0.468																																						uc010sjl.1		NaN																	0				upper_aerodigestive_tract(2)	2						c.(685-687)CTC>CTT		transmembrane 7 superfamily member 3 precursor							124.0	111.0	115.0					12																	27148173		2203	4300	6503	SO:0001819	synonymous_variant	51768					integral to membrane|plasma membrane		g.chr12:27148173G>A	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.687C>T	12.37:g.27148173G>A							p.L229L	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			5	925	-	Colorectal(261;0.0847)		229					B3KMZ3|Q9NUS4	Silent	SNP	ENST00000343028.4	37	c.687C>T	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	G	3.418	-0.118775	0.06838	.	.	ENSG00000064115	ENST00000545303	.	.	.	4.01	2.11	0.27256	.	.	.	.	.	T	0.45637	0.1352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	-0.2556	3.1117	0.06361	0.3511:0.2173:0.4316:0.0	.	.	.	.	L	10	.	.	S	-	2	0	TM7SF3	27039440	0.977000	0.34250	0.560000	0.28344	0.422000	0.31414	0.900000	0.28431	0.444000	0.26612	0.650000	0.86243	TCA		0.468	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1		NM_016551		20	110	0	0	0	0.008871	0	20	110		
KIAA1551	55196	broad.mit.edu	37	12	32136973	32136973	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:32136973C>T	ENST00000312561.4	+	4	3498	c.3084C>T	c.(3082-3084)tcC>tcT	p.S1028S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1028																	TAGATGCATCCAGCAACTATA	0.433																																						uc001rks.2		NaN																	0				ovary(1)|skin(1)	2						c.(3082-3084)TCC>TCT		hypothetical protein LOC55196							88.0	82.0	84.0					12																	32136973		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32136973C>T	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3084C>T	12.37:g.32136973C>T							p.S1028S	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	3498	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1028					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.3084C>T	CCDS8725.2																																																																																				0.433	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		4	47	0	0	0	0.009096	0	4	47		
KMT2D	8085	broad.mit.edu	37	12	49446362	49446362	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:49446362C>A	ENST00000301067.7	-	9	1242	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	415	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGTTTGGCTTCACATTGCAGG	0.547																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1243-1245)GAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 2							60.0	59.0	59.0					12																	49446362		1965	4141	6106	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49446362C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1243G>T	12.37:g.49446362C>A	ENSP00000301067:p.Glu415*	HNSCC(34;0.089)					p.E415*	NM_003482	NP_003473	O14686	MLL2_HUMAN			9	1243	-			415			Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.1243G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	36	5.907945	0.97093	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.8341	0.78787	0.0:1.0:0.0:0.0	.	.	.	.	X	415	.	ENSP00000301067:E415X	E	-	1	0	MLL2	47732629	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.058000	0.41374	2.327000	0.79052	0.313000	0.20887	GAA		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				8	25	1	0	0.00448238	0.004482	0.00562335	8	25		
KMT2D	8085	broad.mit.edu	37	12	49446375	49446375	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:49446375C>G	ENST00000301067.7	-	9	1229	c.1230G>C	c.(1228-1230)ggG>ggC	p.G410G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	410	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATTGCAGGGGCCCTGGTTCCT	0.547																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1228-1230)GGG>GGC		myeloid/lymphoid or mixed-lineage leukemia 2							61.0	61.0	61.0					12																	49446375		1981	4144	6125	SO:0001819	synonymous_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49446375C>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1230G>C	12.37:g.49446375C>G		HNSCC(34;0.089)					p.G410G	NM_003482	NP_003473	O14686	MLL2_HUMAN			9	1230	-			410			Pro-rich.		O14687	Silent	SNP	ENST00000301067.7	37	c.1230G>C	CCDS44873.1																																																																																				0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				10	25	0	0	0	0.008291	0	10	25		
ESPL1	9700	broad.mit.edu	37	12	53679861	53679861	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:53679861A>T	ENST00000257934.4	+	18	3432	c.3341A>T	c.(3340-3342)aAg>aTg	p.K1114M	ESPL1_ENST00000552462.1_Missense_Mutation_p.K1114M	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1114					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACTGTGGCCAAGGAGCCTGGC	0.602																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(3340-3342)AAG>ATG		separase							103.0	100.0	101.0					12																	53679861		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53679861A>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3341A>T	12.37:g.53679861A>T	ENSP00000257934:p.Lys1114Met					ESPL1_uc001scj.2_Missense_Mutation_p.K789M|ESPL1_uc010soe.1_Intron	p.K1114M	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			18	3432	+			1114						Missense_Mutation	SNP	ENST00000257934.4	37	c.3341A>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.263142	0.39995	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13420	2.59;2.59	5.41	4.23	0.50019	.	0.752077	0.13567	N	0.378344	T	0.19327	0.0464	M	0.63428	1.95	0.23095	N	0.998308	P	0.45283	0.855	P	0.44732	0.459	T	0.08680	-1.0710	10	0.54805	T	0.06	.	9.1576	0.37002	0.8165:0.1835:0.0:0.0	.	1114	Q14674	ESPL1_HUMAN	M	1114;789;1114	ENSP00000257934:K1114M;ENSP00000449831:K1114M	ENSP00000257934:K1114M	K	+	2	0	ESPL1	51966128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.998000	0.49465	1.030000	0.39839	0.533000	0.62120	AAG		0.602	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291		39	139	0	0	0	0.005524	0	39	139		
NPFF	8620	broad.mit.edu	37	12	53899548	53899548	+	IGR	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:53899548C>G	ENST00000267017.3	-	0	592				TARBP2_ENST00000394357.2_Missense_Mutation_p.S265C|TARBP2_ENST00000552857.1_Silent_p.L152L|TARBP2_ENST00000266987.2_Missense_Mutation_p.S286C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S265C	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCCCTGGGCTCCCTGGGTGCC	0.597																																						uc001sdo.2		NaN																	0				central_nervous_system(1)	1						c.(856-858)TCC>TGC		TAR RNA binding protein 2 isoform a							78.0	81.0	80.0					12																	53899548		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53899548C>G	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53899548C>G						TARBP2_uc001sdp.2_Missense_Mutation_p.S265C|TARBP2_uc001sdq.2_Missense_Mutation_p.S142C|TARBP2_uc001sdr.2_Missense_Mutation_p.S142C|TARBP2_uc001sds.2_Silent_p.L243L|TARBP2_uc001sdt.2_Missense_Mutation_p.S265C|TARBP2_uc001sdu.2_Missense_Mutation_p.S142C|TARBP2_uc001sdv.2_RNA	p.S286C	NM_134323	NP_599150	Q15633	TRBP2_HUMAN			8	1345	+			286			Sufficient for interaction with DICER1.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.857C>G	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417474	0.25552	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	T;T;T	0.66638	-0.22;-0.21;-0.21	4.45	4.45	0.53987	.	0.686407	0.15427	N	0.262892	T	0.46151	0.1378	N	0.19112	0.55	0.09310	N	1	P	0.43352	0.804	B	0.34652	0.187	T	0.44498	-0.9324	10	0.56958	D	0.05	-12.5415	8.5757	0.33597	0.0:0.8992:0.0:0.1008	.	286	Q15633	TRBP2_HUMAN	C	286;265;265	ENSP00000266987:S286C;ENSP00000416077:S265C;ENSP00000377885:S265C	ENSP00000266987:S286C	S	+	2	0	TARBP2	52185815	0.003000	0.15002	0.623000	0.29173	0.991000	0.79684	1.192000	0.32150	2.759000	0.94783	0.561000	0.74099	TCC		0.597	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1		NM_003717		34	123	0	0	0	0.019004	0	34	123		
OR6C76	390326	broad.mit.edu	37	12	55820354	55820354	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:55820354C>T	ENST00000328314.3	+	1	317	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCCTTGGCTCAACGGAGTTT	0.403																																						uc010spm.1		NaN																	0					0						c.(316-318)TCA>TTA		olfactory receptor, family 6, subfamily C,							118.0	130.0	126.0					12																	55820354		2203	4298	6501	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820354C>T		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.317C>T	12.37:g.55820354C>T	ENSP00000328402:p.Ser106Leu						p.S106L	NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN			1	317	+			106			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000328314.3	37	c.317C>T	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	c	11.45	1.643745	0.29246	.	.	ENSG00000185821	ENST00000328314	T	0.03094	4.05	4.22	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.760292	0.10778	U	0.635183	T	0.03263	0.0095	N	0.25332	0.735	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.42649	-0.9439	10	0.66056	D	0.02	.	6.4301	0.21792	0.1545:0.7013:0.0:0.1442	.	106	A6NM76	O6C76_HUMAN	L	106	ENSP00000328402:S106L	ENSP00000328402:S106L	S	+	2	0	OR6C76	54106621	0.000000	0.05858	0.037000	0.18230	0.700000	0.40528	-0.377000	0.07456	0.212000	0.20703	0.525000	0.51046	TCA		0.403	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1		NM_001005183		14	47	0	0	0	0.016723	0	14	47		
DYRK2	8445	broad.mit.edu	37	12	68052281	68052281	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:68052281C>T	ENST00000344096.3	+	3	2007	c.1594C>T	c.(1594-1596)Cac>Tac	p.H532Y	DYRK2_ENST00000393555.3_Missense_Mutation_p.H459Y|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	532	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GGCTTTGCGGCACCCCTGGCT	0.547																																						uc001str.3		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1594-1596)CAC>TAC		dual-specificity tyrosine-(Y)-phosphorylation							82.0	87.0	85.0					12																	68052281		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68052281C>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1594C>T	12.37:g.68052281C>T	ENSP00000342105:p.His532Tyr					DYRK2_uc001sts.3_Missense_Mutation_p.H459Y	p.H532Y	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1996	+			532			Protein kinase.		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.1594C>T	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768732	0.69878	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.30714	1.52;1.52	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76170	-0.3057	9	.	.	.	.	19.9428	0.97171	0.0:1.0:0.0:0.0	.	532	Q92630	DYRK2_HUMAN	Y	532;459	ENSP00000342105:H532Y;ENSP00000377186:H459Y	.	H	+	1	0	DYRK2	66338548	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.818000	0.86416	2.800000	0.96347	0.455000	0.32223	CAC		0.547	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1				16	447	0	0	0	0.004007	0	16	447		
ZFC3H1	196441	broad.mit.edu	37	12	72014016	72014016	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:72014016C>G	ENST00000378743.3	-	25	5182	c.4824G>C	c.(4822-4824)atG>atC	p.M1608I		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1608					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCAGAGCAATCATGTTTGTGT	0.403																																						uc001swo.2		NaN																	0				ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(4822-4824)ATG>ATC		proline/serine-rich coiled-coil 2							162.0	158.0	159.0					12																	72014016		1917	4136	6053	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72014016C>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4824G>C	12.37:g.72014016C>G	ENSP00000368017:p.Met1608Ile						p.M1608I	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			25	5183	-			1608			TPR 3.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.4824G>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164255	0.57476	.	.	ENSG00000133858	ENST00000378743	T	0.33438	1.41	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.108387	0.64402	D	0.000005	T	0.27205	0.0667	L	0.27053	0.805	0.80722	D	1	B	0.22480	0.07	B	0.21546	0.035	T	0.02632	-1.1131	10	0.37606	T	0.19	.	19.8853	0.96910	0.0:1.0:0.0:0.0	.	1608	O60293	ZC3H1_HUMAN	I	1608	ENSP00000368017:M1608I	ENSP00000368017:M1608I	M	-	3	0	ZFC3H1	70300283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.176000	0.58269	2.701000	0.92244	0.655000	0.94253	ATG		0.403	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1		NM_144982		23	364	0	0	0	0.021523	0	23	364		
EEA1	8411	broad.mit.edu	37	12	93174109	93174109	+	Missense_Mutation	SNP	C	C	G	rs202011547	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:93174109C>G	ENST00000322349.8	-	24	3679	c.3415G>C	c.(3415-3417)Gaa>Caa	p.E1139Q		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1139	Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTAGTGATTTCTTTTTCTTGT	0.308																																						uc001tck.2		NaN																	0				ovary(2)|skin(1)	3						c.(3415-3417)GAA>CAA		early endosome antigen 1, 162kD							185.0	181.0	183.0					12																	93174109		2203	4300	6503	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93174109C>G	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3415G>C	12.37:g.93174109C>G	ENSP00000317955:p.Glu1139Gln						p.E1139Q	NM_003566	NP_003557	Q15075	EEA1_HUMAN			24	3680	-			1139			Glu/Lys-rich.|Potential.		Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.3415G>C	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165712	0.57476	.	.	ENSG00000102189	ENST00000322349	T	0.67698	-0.28	5.82	5.82	0.92795	.	0.109575	0.39834	N	0.001254	T	0.58047	0.2095	L	0.32530	0.975	0.42291	D	0.992135	B	0.06786	0.001	B	0.12156	0.007	T	0.52472	-0.8571	10	0.16420	T	0.52	.	19.7015	0.96057	0.0:1.0:0.0:0.0	.	1139	Q15075	EEA1_HUMAN	Q	1139	ENSP00000317955:E1139Q	ENSP00000317955:E1139Q	E	-	1	0	EEA1	91698240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.114000	0.31196	2.745000	0.94114	0.650000	0.86243	GAA		0.308	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566		5	20	0	0	0	0.001168	0	5	20		
STAB2	55576	broad.mit.edu	37	12	104096936	104096936	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:104096936A>G	ENST00000388887.2	+	35	3929	c.3725A>G	c.(3724-3726)aAt>aGt	p.N1242S		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTCTATGTAAATGAGGCTCCA	0.373																																						uc001tjw.2		NaN																	0				ovary(9)|skin(5)	14						c.(3724-3726)AAT>AGT		stabilin 2 precursor							83.0	77.0	79.0					12																	104096936		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104096936A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3725A>G	12.37:g.104096936A>G	ENSP00000373539:p.Asn1242Ser						p.N1242S	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			35	3911	+			1242			Extracellular (Potential).|FAS1 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.3725A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290005	0.80914	.	.	ENSG00000136011	ENST00000388887	D	0.92397	-3.03	5.8	5.8	0.92144	FAS1 domain (5);Growth factor, receptor (1);	0.050796	0.85682	D	0.000000	D	0.96565	0.8879	M	0.88105	2.93	0.47949	D	0.999558	D	0.89917	1.0	D	0.87578	0.998	D	0.96569	0.9421	10	0.46703	T	0.11	.	16.1448	0.81559	1.0:0.0:0.0:0.0	.	1242	Q8WWQ8	STAB2_HUMAN	S	1242	ENSP00000373539:N1242S	ENSP00000373539:N1242S	N	+	2	0	STAB2	102621066	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.057000	0.89457	2.216000	0.71823	0.482000	0.46254	AAT		0.373	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1				20	48	0	0	0	0.008871	0	20	48		
C12orf45	121053	broad.mit.edu	37	12	105388290	105388290	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:105388290C>G	ENST00000552951.1	+	4	417	c.374C>G	c.(373-375)tCa>tGa	p.S125*	C12orf45_ENST00000548583.1_3'UTR|C12orf45_ENST00000280749.5_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	125										large_intestine(1)|lung(2)	3						CAGTCGGATTCAAAAGAAGTG	0.393																																						uc001tlb.2		NaN																	0					0						c.(373-375)TCA>TGA		hypothetical protein LOC121053							72.0	65.0	67.0					12																	105388290		1877	4100	5977	SO:0001587	stop_gained	121053							g.chr12:105388290C>G	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.374C>G	12.37:g.105388290C>G	ENSP00000447057:p.Ser125*						p.S125*	NM_152318	NP_689531	Q8N5I9	CL045_HUMAN			4	407	+			125						Nonsense_Mutation	SNP	ENST00000552951.1	37	c.374C>G	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722532	0.89298	.	.	ENSG00000151131	ENST00000552951	.	.	.	5.56	3.65	0.41850	.	0.762571	0.12894	N	0.430329	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.6906	12.3183	0.54971	0.3077:0.6923:0.0:0.0	.	.	.	.	X	125	.	ENSP00000447057:S125X	S	+	2	0	C12orf45	103912420	0.501000	0.26099	0.005000	0.12908	0.952000	0.60782	1.874000	0.39568	0.751000	0.32900	0.650000	0.86243	TCA		0.393	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1		NM_152318		22	30	0	0	0	0.012319	0	22	30		
ANKRD13A	88455	broad.mit.edu	37	12	110456242	110456242	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:110456242G>C	ENST00000261739.4	+	5	659	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	165						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GCTGGGATTTGAAAACATGAG	0.443																																						uc001tpx.2		NaN																	0					0						c.(493-495)GAA>CAA		ankyrin repeat domain 13							137.0	136.0	136.0					12																	110456242		2203	4300	6503	SO:0001583	missense	88455							g.chr12:110456242G>C	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.493G>C	12.37:g.110456242G>C	ENSP00000261739:p.Glu165Gln					ANKRD13A_uc009zvl.1_RNA|ANKRD13A_uc009zvm.1_Missense_Mutation_p.E165Q|ANKRD13A_uc010sxw.1_Missense_Mutation_p.E165Q	p.E165Q	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN			5	752	+			165					O60736	Missense_Mutation	SNP	ENST00000261739.4	37	c.493G>C	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.623527|5.623527	0.96660|0.96660	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000261739|ENST00000547639	T|.	0.47869|.	0.83|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77974|0.77974	0.4211|0.4211	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.998;0.99;0.998|.	T|T	0.77576|0.77576	-0.2536|-0.2536	10|5	0.72032|.	D|.	0.01|.	-8.7643|-8.7643	18.6782|18.6782	0.91537|0.91537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	165;165;165|.	B4DYP5;Q3ZTS7;Q8IZ07|.	.;.;AN13A_HUMAN|.	Q|F	165|18	ENSP00000261739:E165Q|.	ENSP00000261739:E165Q|.	E|L	+|+	1|3	0|2	ANKRD13A|ANKRD13A	108940625|108940625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.804000|9.804000	0.99143|0.99143	2.648000|2.648000	0.89879|0.89879	0.650000|0.650000	0.86243|0.86243	GAA|TTG		0.443	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1		NM_033121		11	69	0	0	0	0.013537	0	11	69		
RPH3A	22895	broad.mit.edu	37	12	113314469	113314469	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:113314469G>A	ENST00000389385.4	+	13	1466	c.969G>A	c.(967-969)ggG>ggA	p.G323G	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.G323G|RPH3A_ENST00000551052.1_Silent_p.G319G|RPH3A_ENST00000447659.2_Silent_p.G274G|RPH3A_ENST00000415485.3_Silent_p.G323G|RPH3A_ENST00000548866.1_Silent_p.G274G|RPH3A_ENST00000420983.2_Silent_p.G323G	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	323	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCGACCCTGGGACCACTGCCC	0.592																																						uc010syl.1		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(967-969)GGG>GGA		rabphilin 3A homolog isoform 1							31.0	27.0	29.0					12																	113314469		2200	4300	6500	SO:0001819	synonymous_variant	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113314469G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.969G>A	12.37:g.113314469G>A						RPH3A_uc001ttz.2_Silent_p.G323G|RPH3A_uc001tty.2_Silent_p.G319G|RPH3A_uc009zwe.1_Silent_p.G319G|RPH3A_uc010sym.1_Silent_p.G274G|RPH3A_uc001tua.2_Silent_p.G83G	p.G323G	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	13	1331	+			323			Pro-rich.		B7Z3C3|Q96AE0	Silent	SNP	ENST00000389385.4	37	c.969G>A	CCDS44979.1																																																																																				0.592	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1		NM_014954		7	17	0	0	0	0.00308	0	7	17		
DDX54	79039	broad.mit.edu	37	12	113600964	113600964	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:113600964C>T	ENST00000306014.5	-	16	2081	c.2054G>A	c.(2053-2055)cGg>cAg	p.R685Q	DDX54_ENST00000314045.7_Missense_Mutation_p.R685Q|DDX54_ENST00000549271.1_5'Flank	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	685					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTCCTTGGGCCGGTAGGGGAT	0.662																																						uc001tup.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2053-2055)CGG>CAG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							56.0	63.0	61.0					12																	113600964		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113600964C>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2054G>A	12.37:g.113600964C>T	ENSP00000304072:p.Arg685Gln					DDX54_uc001tuq.3_Missense_Mutation_p.R685Q	p.R685Q	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			16	2082	-			685					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2054G>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.486571	0.63962	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.09630	2.96;2.97	5.24	4.35	0.52113	.	0.116319	0.56097	D	0.000022	T	0.09512	0.0234	L	0.43923	1.385	0.58432	D	0.999995	P;P	0.42518	0.782;0.676	B;B	0.38264	0.269;0.139	T	0.16897	-1.0387	10	0.10636	T	0.68	.	13.4906	0.61393	0.0:0.9238:0.0:0.0762	.	685;685	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	Q	685	ENSP00000323858:R685Q;ENSP00000304072:R685Q	ENSP00000304072:R685Q	R	-	2	0	DDX54	112085347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.619000	0.67729	1.216000	0.43427	0.643000	0.83706	CGG		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1		NM_024072		42	20	0	0	0	0.009718	0	42	20		
RPLP0	6175	broad.mit.edu	37	12	120635157	120635157	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:120635157C>G	ENST00000551150.1	-	6	1075	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	RPLP0_ENST00000313104.5_Missense_Mutation_p.E192Q|RPLP0_ENST00000392514.4_Missense_Mutation_p.E254Q|RPLP0_ENST00000546989.1_Missense_Mutation_p.E218Q|RPLP0_ENST00000552292.1_Missense_Mutation_p.E44Q|GCN1L1_ENST00000300648.6_5'Flank|RPLP0_ENST00000228306.4_Missense_Mutation_p.E254Q|RPLP0_ENST00000550296.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	254					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATCCGTCTCCACAGACAAG	0.507																																						uc001txp.2		NaN																	0				ovary(1)	1						c.(760-762)GAG>CAG		ribosomal protein P0							92.0	76.0	82.0					12																	120635157		2203	4300	6503	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120635157C>G	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.760G>C	12.37:g.120635157C>G	ENSP00000449328:p.Glu254Gln					GCN1L1_uc001txo.2_5'Flank|RPLP0_uc001txq.2_Missense_Mutation_p.E254Q|RPLP0_uc001txr.2_Missense_Mutation_p.E192Q	p.E254Q	NM_053275	NP_444505	P05388	RLA0_HUMAN			7	997	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		254					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.760G>C	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242429	0.95272	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000552292;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	U	0.000000	T	0.72399	0.3455	M	0.81614	2.55	0.80722	D	1	P;P	0.49185	0.92;0.527	P;B	0.47744	0.556;0.383	T	0.73366	-0.4005	9	0.37606	T	0.19	.	19.5373	0.95257	0.0:1.0:0.0:0.0	.	192;254	Q3B7A4;P05388	.;RLA0_HUMAN	Q	254;254;44;192;218;254;205;234	.	ENSP00000339027:E254Q	E	-	1	0	RPLP0	119119540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.758000	0.85224	2.629000	0.89072	0.655000	0.94253	GAG		0.507	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3		NM_053275		21	105	0	0	0	0.014323	0	21	105		
HPD	3242	broad.mit.edu	37	12	122286936	122286936	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:122286936G>T	ENST00000289004.4	-	9	600	c.565C>A	c.(565-567)Cct>Act	p.P189T	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Missense_Mutation_p.P150T	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	189					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTGATCAGGCTGGTTTCCC	0.602																																						uc001ubj.2		NaN																	0					0						c.(565-567)CCT>ACT		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						186.0	134.0	152.0					12																	122286936		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122286936G>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.565C>A	12.37:g.122286936G>T	ENSP00000289004:p.Pro189Thr					HPD_uc001ubk.2_Missense_Mutation_p.P150T	p.P189T	NM_002150	NP_002141	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	9	605	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		189					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.565C>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958073	0.92726	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.64803	-0.12;-0.12	5.64	5.64	0.86602	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	M	0.92122	3.275	0.80722	D	1	P	0.45902	0.868	P	0.51615	0.675	T	0.82864	-0.0246	10	0.44086	T	0.13	-14.132	19.7002	0.96049	0.0:0.0:1.0:0.0	.	189	P32754	HPPD_HUMAN	T	189;186;150	ENSP00000289004:P189T;ENSP00000441677:P150T	ENSP00000289004:P189T	P	-	1	0	HPD	120771319	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.197000	0.72100	2.657000	0.90304	0.655000	0.94253	CCT		0.602	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1		NM_002150		12	89	1	0	2.68362e-12	0.013537	3.66069e-12	12	89		
HIP1R	9026	broad.mit.edu	37	12	123343743	123343743	+	Splice_Site	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:123343743A>T	ENST00000253083.4	+	22	2419	c.2294A>T	c.(2293-2295)cAg>cTg	p.Q765L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	765					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGCTGGGCCAGGTGAGGCAC	0.652																																						uc001udj.1		NaN																	0				ovary(1)	1						c.(2293-2295)CAG>CTG		huntingtin interacting protein-1-related							14.0	13.0	13.0					12																	123343743		2182	4282	6464	SO:0001630	splice_region_variant	9026				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	g.chr12:123343743A>T	AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2295+1A>T	12.37:g.123343743A>T						HIP1R_uc001udk.1_Missense_Mutation_p.Q30L	p.Q765L	NM_003959	NP_003950	O75146	HIP1R_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)	22	2353	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		765					A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	c.2294A>T	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624025	0.87560	.	.	ENSG00000130787	ENST00000253083	T	0.15017	2.46	4.93	4.93	0.64822	.	0.112737	0.64402	D	0.000008	T	0.21267	0.0512	M	0.78637	2.42	0.80722	D	1	B	0.26081	0.141	B	0.23716	0.048	T	0.05257	-1.0896	10	0.56958	D	0.05	-40.1298	8.1576	0.31178	0.9008:0.0:0.0992:0.0	.	765	O75146	HIP1R_HUMAN	L	765	ENSP00000253083:Q765L	ENSP00000253083:Q765L	Q	+	2	0	HIP1R	121909696	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.712000	0.68407	1.854000	0.53819	0.454000	0.30748	CAG		0.652	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1		NM_003959	Missense_Mutation	4	6	0	0	0	0.014758	0	4	6		
PITPNM2	57605	broad.mit.edu	37	12	123494488	123494488	+	Silent	SNP	G	G	A	rs373270143		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:123494488G>A	ENST00000542749.1	-	4	615	c.552C>T	c.(550-552)gtC>gtT	p.V184V	PITPNM2_ENST00000451868.2_5'UTR|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000546049.1_Silent_p.V184V|PITPNM2_ENST00000320201.4_Silent_p.V184V|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000280562.5_Silent_p.V184V			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	184					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGATGGGGAAGACCTGCTTCT	0.562																																						uc001uej.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(550-552)GTC>GTT		phosphatidylinositol transfer protein,							199.0	183.0	188.0					12																	123494488		2203	4300	6503	SO:0001819	synonymous_variant	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123494488G>A	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.552C>T	12.37:g.123494488G>A						PITPNM2_uc001uek.1_Silent_p.V184V|PITPNM2_uc009zxu.1_Silent_p.V184V	p.V184V	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	5	691	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		184					Q9P271	Silent	SNP	ENST00000542749.1	37	c.552C>T	CCDS9242.1																																																																																				0.562	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		NM_020845		55	190	0	0	0	0.01441	0	55	190		
CHFR	55743	broad.mit.edu	37	12	133428240	133428241	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr12:133428240_133428241CC>GT	ENST00000432561.2	-	12	1564_1565	c.1491_1492GG>AC	c.(1489-1494)gcGGag>gcACag	p.E498Q	CHFR_ENST00000315585.7_Missense_Mutation_p.E457Q|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.E486Q|CHFR_ENST00000266880.7_Missense_Mutation_p.E497Q|CHFR_ENST00000537522.1_Missense_Mutation_p.E120Q|CHFR_ENST00000443047.2_Missense_Mutation_p.E406Q			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	498					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TGCTCGCGCTCCGCTCTCCGGT	0.644																																						uc001ulf.2		NaN																	0				skin(1)	1						c.(1489-1494)GCGGAG>GCACAG		checkpoint with forkhead and ring finger domains																																				SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133428240_133428241CC>GT	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.1491_1492delinsGT	12.37:g.133428240_133428241delinsGT	ENSP00000392395:p.Glu498Gln					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.E486Q|CHFR_uc010tbs.1_Missense_Mutation_p.E497Q|CHFR_uc001uld.2_Missense_Mutation_p.E457Q|CHFR_uc010tbt.1_Missense_Mutation_p.E406Q	p.E498Q	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	12	1575_1576	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	498					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	DNP	ENST00000432561.2	37	c.1491_1492GG>AC	CCDS53849.1																																																																																				0.644	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2				38	181	0	0	0	0.004672	0	38	181		
SACS	26278	broad.mit.edu	37	13	23907016	23907016	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:23907016G>A	ENST00000382292.3	-	9	11272	c.10999C>T	c.(10999-11001)Cat>Tat	p.H3667Y	SACS_ENST00000402364.1_Missense_Mutation_p.H2917Y|SACS_ENST00000382298.3_Missense_Mutation_p.H3667Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3667					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATTGAGGATGAAATCTAATG	0.383																																						uc001uon.2		NaN																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(10999-11001)CAT>TAT		sacsin							67.0	70.0	69.0					13																	23907016		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23907016G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.10999C>T	13.37:g.23907016G>A	ENSP00000371729:p.His3667Tyr					SACS_uc001uoo.2_Missense_Mutation_p.H3520Y|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.H3667Y	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	11588	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3667					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.10999C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	33	5.256637	0.95336	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89485	-2.36;-2.52;-2.36	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	L	0.29908	0.895	0.51233	D	0.999914	D	0.69078	0.997	D	0.75484	0.986	D	0.90193	0.4251	10	0.37606	T	0.19	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	3667	Q9NZJ4	SACS_HUMAN	Y	3667;2917;3667	ENSP00000371729:H3667Y;ENSP00000385844:H2917Y;ENSP00000371735:H3667Y	ENSP00000371729:H3667Y	H	-	1	0	SACS	22805016	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.843000	0.99491	2.817000	0.96982	0.563000	0.77884	CAT		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		6	27	0	0	0	0.001168	0	6	27		
SACS	26278	broad.mit.edu	37	13	23914840	23914840	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:23914840C>G	ENST00000382292.3	-	9	3448	c.3175G>C	c.(3175-3177)Gaa>Caa	p.E1059Q	SACS_ENST00000402364.1_Missense_Mutation_p.E309Q|SACS_ENST00000382298.3_Missense_Mutation_p.E1059Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1059					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.E912Q(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTAGTACTTCTATATCAGGG	0.383																																						uc001uon.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3175-3177)GAA>CAA		sacsin							111.0	114.0	113.0					13																	23914840		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914840C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3175G>C	13.37:g.23914840C>G	ENSP00000371729:p.Glu1059Gln					SACS_uc001uoo.2_Missense_Mutation_p.E912Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.E1059Q	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3764	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1059					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.3175G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399570	0.42512	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89552	-2.37;-2.53;-2.37	5.96	4.21	0.49690	.	0.107333	0.64402	D	0.000006	D	0.82765	0.5108	L	0.34521	1.04	0.38552	D	0.949482	B	0.23735	0.09	B	0.20384	0.029	T	0.81300	-0.0995	10	0.49607	T	0.09	.	12.338	0.55079	0.0:0.8167:0.1185:0.0648	.	1059	Q9NZJ4	SACS_HUMAN	Q	1059;309;1059	ENSP00000371729:E1059Q;ENSP00000385844:E309Q;ENSP00000371735:E1059Q	ENSP00000371729:E1059Q	E	-	1	0	SACS	22812840	1.000000	0.71417	0.580000	0.28601	0.923000	0.55619	4.489000	0.60309	1.519000	0.48950	0.585000	0.79938	GAA		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363		25	102	0	0	0	0.016522	0	25	102		
AMER2	219287	broad.mit.edu	37	13	25744587	25744587	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:25744587C>G	ENST00000515384.1	-	1	1838	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	AMER2_ENST00000381853.3_Missense_Mutation_p.E272Q|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.E272Q			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	391					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GGACCTGCCTCTTCCTCTTGG	0.532																																						uc001uqb.2		NaN																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1171-1173)GAG>CAG		hypothetical protein LOC219287 isoform 1							44.0	51.0	48.0					13																	25744587		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744587C>G	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1171G>C	13.37:g.25744587C>G	ENSP00000426528:p.Glu391Gln					FAM123A_uc001uqa.2_Missense_Mutation_p.E272Q|FAM123A_uc001uqc.2_Missense_Mutation_p.E272Q	p.E391Q	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1271	-		Lung SC(185;0.0225)|Breast(139;0.0602)	391					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1171G>C	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092956	0.76756	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.21932	1.98;1.98;1.98	4.2	4.2	0.49525	.	0.258206	0.37393	N	0.002104	T	0.32102	0.0818	L	0.36672	1.1	0.40325	D	0.97886	D;D	0.59767	0.986;0.982	P;P	0.58928	0.848;0.764	T	0.10268	-1.0637	10	0.54805	T	0.06	-4.0313	15.716	0.77670	0.0:1.0:0.0:0.0	.	391;272	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	Q	272;272;391	ENSP00000350469:E272Q;ENSP00000371277:E272Q;ENSP00000426528:E391Q	ENSP00000350469:E272Q	E	-	1	0	FAM123A	24642587	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.250000	0.78287	2.167000	0.68274	0.561000	0.74099	GAG		0.532	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1		NM_152704		21	103	0	0	0	0.012319	0	21	103		
GPR12	2835	broad.mit.edu	37	13	27333290	27333290	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:27333290C>A	ENST00000381436.2	-	1	1137	c.675G>T	c.(673-675)atG>atT	p.M225I	GPR12_ENST00000405846.3_Missense_Mutation_p.M225I			P47775	GPR12_HUMAN	G protein-coupled receptor 12	225					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GGGCGTGCCTCATCACAATCT	0.567																																						uc010aal.2		NaN																	0					0						c.(673-675)ATG>ATT		G protein-coupled receptor 12							63.0	61.0	62.0					13																	27333290		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27333290C>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.675G>T	13.37:g.27333290C>A	ENSP00000370844:p.Met225Ile					GPR12_uc010tdl.1_Missense_Mutation_p.M66I	p.M225I	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	897	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	225			Cytoplasmic (Potential).		Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.675G>T	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647232	0.29246	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36157	1.27;1.27	5.42	5.42	0.78866	GPCR, rhodopsin-like superfamily (1);	0.118436	0.85682	D	0.000000	T	0.28566	0.0707	N	0.19112	0.55	0.58432	D	0.999998	B	0.18741	0.03	B	0.25759	0.063	T	0.05903	-1.0857	10	0.20519	T	0.43	.	19.2295	0.93833	0.0:1.0:0.0:0.0	.	225	P47775	GPR12_HUMAN	I	225	ENSP00000384932:M225I;ENSP00000370844:M225I	ENSP00000370844:M225I	M	-	3	0	GPR12	26231290	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.873000	0.69644	2.567000	0.86603	0.561000	0.74099	ATG		0.567	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2				37	36	1	0	1.06647e-15	0.017118	1.47173e-15	37	36		
NBEA	26960	broad.mit.edu	37	13	35926317	35926317	+	Silent	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:35926317T>C	ENST00000400445.3	+	38	6570	c.6036T>C	c.(6034-6036)gcT>gcC	p.A2012A	NBEA_ENST00000379939.2_Silent_p.A2009A|NBEA_ENST00000540320.1_Silent_p.A2012A|NBEA_ENST00000310336.4_Silent_p.A2012A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2012					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATATGCTGCTGATAGAAGAG	0.328																																						uc001uvb.2		NaN																	0				ovary(9)|large_intestine(2)	11						c.(6034-6036)GCT>GCC		neurobeachin							73.0	68.0	69.0					13																	35926317		1892	4120	6012	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35926317T>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6036T>C	13.37:g.35926317T>C						NBEA_uc010abi.2_Silent_p.A668A	p.A2012A	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	38	6242	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2012					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.6036T>C	CCDS45026.1																																																																																				0.328	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678		5	5	0	0	0	0.014758	0	5	5		
DCLK1	9201	broad.mit.edu	37	13	36428670	36428670	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:36428670G>A	ENST00000360631.3	-	6	1212	c.1001C>T	c.(1000-1002)tCa>tTa	p.S334L	DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000379893.1_Missense_Mutation_p.S27L|DCLK1_ENST00000255448.4_Missense_Mutation_p.S334L|DCLK1_ENST00000379892.4_Missense_Mutation_p.S334L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	334	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCTGGTGGGTGATGGGCTTGG	0.527																																						uc001uvf.2		NaN																	0				stomach(6)|ovary(2)|skin(1)	9						c.(1000-1002)TCA>TTA		doublecortin-like kinase 1							133.0	114.0	121.0					13																	36428670		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36428670G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1001C>T	13.37:g.36428670G>A	ENSP00000353846:p.Ser334Leu					DCLK1_uc001uve.3_Missense_Mutation_p.S27L|DCLK1_uc010teh.1_Missense_Mutation_p.S27L|DCLK1_uc010abk.2_Missense_Mutation_p.S27L|DCLK1_uc001uvh.3_RNA	p.S334L	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	6	1234	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	334			Pro/Ser-rich.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1001C>T		.	.	.	.	.	.	.	.	.	.	G	34	5.368147	0.95900	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451;ENST00000379892	T;T;T;T	0.69175	-0.38;-0.38;-0.35;1.78	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.82075	0.4958	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.969;0.968	D;P;P	0.91635	0.999;0.856;0.79	T	0.81602	-0.0858	10	0.51188	T	0.08	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	27;334;27	O15075-4;O15075-2;O15075-3	.;.;.	L	26;334;334;27;334;334	ENSP00000255448:S334L;ENSP00000353846:S334L;ENSP00000369223:S27L;ENSP00000369222:S334L	ENSP00000255448:S334L	S	-	2	0	DCLK1	35326670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.636000	0.91010	2.687000	0.91594	0.655000	0.94253	TCA		0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1		NM_004734		33	75	0	0	0	0.017118	0	33	75		
SPERT	220082	broad.mit.edu	37	13	46287727	46287727	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:46287727C>G	ENST00000310521.1	+	3	647	c.567C>G	c.(565-567)ctC>ctG	p.L189L	SPERT_ENST00000378966.3_Silent_p.L153L	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	189						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACCGGATGCTCAGCAAGGAGA	0.617																																						uc001van.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(565-567)CTC>CTG		spermatid associated							72.0	69.0	70.0					13																	46287727		2203	4300	6503	SO:0001819	synonymous_variant	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287727C>G	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.567C>G	13.37:g.46287727C>G						SPERT_uc001vao.2_Silent_p.L153L	p.L189L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	3	647	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	189			Potential.		A8K8I5|Q8NHV2	Silent	SNP	ENST00000310521.1	37	c.567C>G	CCDS9399.1																																																																																				0.617	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2		NM_152719		13	74	0	0	0	0.020292	0	13	74		
FNDC3A	22862	broad.mit.edu	37	13	49710722	49710722	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:49710722G>A	ENST00000492622.2	+	6	1050	c.745G>A	c.(745-747)Gat>Aat	p.D249N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D249N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.D193N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	249					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACACAAGTTGATACAGAAAT	0.353																																						uc001vcm.2		NaN																	0				lung(2)	2						c.(745-747)GAT>AAT		fibronectin type III domain containing 3A							130.0	125.0	127.0					13																	49710722		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49710722G>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.745G>A	13.37:g.49710722G>A	ENSP00000417257:p.Asp249Asn					FNDC3A_uc001vcl.1_Missense_Mutation_p.D249N|FNDC3A_uc001vcn.2_Missense_Mutation_p.D249N|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcp.1_Missense_Mutation_p.D193N|FNDC3A_uc001vcq.2_Missense_Mutation_p.D193N	p.D249N	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	6	1050	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	249					B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.745G>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246978	0.39697	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.35605	1.3;1.3;1.3	5.71	4.86	0.63082	.	0.327283	0.28983	N	0.013512	T	0.20618	0.0496	N	0.08118	0	0.43296	D	0.995287	B;B;B	0.26708	0.157;0.016;0.074	B;B;B	0.28709	0.051;0.026;0.093	T	0.06826	-1.0805	10	0.20519	T	0.43	-13.7951	13.6583	0.62352	0.0741:0.0:0.9259:0.0	.	193;249;249	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	N	249;185;249;193	ENSP00000417257:D249N;ENSP00000441831:D249N;ENSP00000381362:D193N	ENSP00000338579:D185N	D	+	1	0	FNDC3A	48608723	1.000000	0.71417	0.953000	0.39169	0.552000	0.35366	4.883000	0.63128	1.406000	0.46857	0.563000	0.77884	GAT		0.353	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2		NM_014923		6	51	0	0	0	0.001168	0	6	51		
RNASEH2B	79621	broad.mit.edu	37	13	51528086	51528086	+	Missense_Mutation	SNP	A	A	G	rs150363383		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:51528086A>G	ENST00000336617.3	+	10	1186	c.787A>G	c.(787-789)Act>Gct	p.T263A	RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	263					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		AGAAGATTACACTAAGTTTAA	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		19087	0.0		0.001	False		,,,				2504	0.0					uc001vfa.3		NaN																	0					0						c.(787-789)ACT>GCT		ribonuclease H2, subunit B isoform 1		A	,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	143.0	131.0	135.0		,787	5.8	1.0	13	dbSNP_134	135	9,8591	7.1+/-27.0	0,9,4291	yes	intron,missense	RNASEH2B	NM_001142279.2,NM_024570.3	,58	0,10,6493	GG,GA,AA		0.1047,0.0227,0.0769	,probably-damaging	,263/313	51528086	10,12996	2203	4300	6503	SO:0001583	missense	79621				RNA catabolic process	nucleus|ribonuclease H2 complex		g.chr13:51528086A>G	AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.787A>G	13.37:g.51528086A>G	ENSP00000337623:p.Thr263Ala					RNASEH2B_uc001vfb.3_Intron	p.T263A	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN		GBM - Glioblastoma multiforme(99;9e-08)	10	1108	+		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)	263					G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	ENST00000336617.3	37	c.787A>G	CCDS9425.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	21.9	4.211516	0.79240	2.27E-4	0.001047	ENSG00000136104	ENST00000336617;ENST00000539292	D	0.95622	-3.76	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96466	0.8847	M	0.79123	2.44	0.80722	D	1	D	0.76494	0.999	P	0.60117	0.869	D	0.95292	0.8396	10	0.09843	T	0.71	-15.6964	13.5632	0.61802	1.0:0.0:0.0:0.0	.	263	Q5TBB1	RNH2B_HUMAN	A	263	ENSP00000337623:T263A	ENSP00000337623:T263A	T	+	1	0	RNASEH2B	50426087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.550000	0.73905	2.225000	0.72522	0.460000	0.39030	ACT		0.368	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045006.3		NM_024570		12	8	0	0	0	0.016723	0	12	8		
LECT1	11061	broad.mit.edu	37	13	53286974	53286974	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:53286974C>G	ENST00000377962.3	-	5	577	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	LECT1_ENST00000448904.2_Missense_Mutation_p.E167Q			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	167	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AGAGAATTTTCTTCATATTTG	0.403																																						uc001vhf.2		NaN																	0				ovary(2)	2						c.(499-501)GAA>CAA		leukocyte cell derived chemotaxin 1 isoform 1							67.0	67.0	67.0					13																	53286974		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53286974C>G	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.499G>C	13.37:g.53286974C>G	ENSP00000367198:p.Glu167Gln					LECT1_uc001vhg.2_Missense_Mutation_p.E167Q|LECT1_uc001vhh.2_Missense_Mutation_p.E156Q	p.E167Q	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	5	610	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	167			BRICHOS.		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.499G>C	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977448	0.74360	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550	T;T;T	0.78707	-1.2;-1.2;-1.2	5.09	4.23	0.50019	BRICHOS (2);	0.337828	0.34531	N	0.003891	T	0.81460	0.4827	M	0.65498	2.005	0.35773	D	0.821084	P;P;P	0.49185	0.92;0.879;0.901	P;P;P	0.53313	0.723;0.572;0.697	D	0.85460	0.1166	10	0.52906	T	0.07	.	10.7389	0.46141	0.0:0.7944:0.1322:0.0734	.	203;167;167	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	Q	167;167;89	ENSP00000388576:E167Q;ENSP00000367198:E167Q;ENSP00000396035:E89Q	ENSP00000367198:E167Q	E	-	1	0	LECT1	52184975	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.487000	0.60293	1.095000	0.41419	0.650000	0.86243	GAA		0.403	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3				23	51	0	0	0	0.01892	0	23	51		
BORA	79866	broad.mit.edu	37	13	73321010	73321010	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:73321010G>C	ENST00000390667.5	+	10	1340	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	BORA_ENST00000377815.3_Missense_Mutation_p.E345Q	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	415					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										CAGTGCTTCTGAGAAAGAATT	0.423																																						uc001viv.1		NaN																	0					0						c.(1243-1245)GAG>CAG		aurora borealis							119.0	113.0	115.0					13																	73321010		1930	4131	6061	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73321010G>C	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1243G>C	13.37:g.73321010G>C	ENSP00000375082:p.Glu415Gln					C13orf34_uc010thq.1_Missense_Mutation_p.E190Q|C13orf34_uc010aen.1_Missense_Mutation_p.E490Q|C13orf34_uc010thr.1_Missense_Mutation_p.E345Q|C13orf34_uc001viw.1_Missense_Mutation_p.E364Q	p.E415Q	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	10	1362	+		Breast(118;0.0735)	415					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.1243G>C	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017608	0.35606	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.32515	1.45;1.46	5.7	5.7	0.88788	.	0.433687	0.26463	N	0.024236	T	0.29389	0.0732	L	0.60455	1.87	0.24345	N	0.994942	P;B;P;B	0.42409	0.779;0.302;0.61;0.302	B;B;B;B	0.41036	0.346;0.215;0.215;0.215	T	0.39800	-0.9596	10	0.45353	T	0.12	-9.1671	6.6433	0.22921	0.1501:0.1666:0.6833:0.0	.	345;415;475;415	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	Q	345;415	ENSP00000367046:E345Q;ENSP00000375082:E415Q	ENSP00000367046:E345Q	E	+	1	0	BORA	72219011	1.000000	0.71417	0.631000	0.29282	0.908000	0.53690	3.295000	0.51794	2.687000	0.91594	0.655000	0.94253	GAG		0.423	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3		NM_024808		12	36	0	0	0	0.010729	0	12	36		
DIS3	22894	broad.mit.edu	37	13	73334745	73334745	+	Silent	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:73334745A>G	ENST00000377767.4	-	20	2815	c.2715T>C	c.(2713-2715)gaT>gaC	p.D905D	DIS3_ENST00000377780.4_Silent_p.D875D|DIS3_ENST00000545453.1_Silent_p.D743D	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	905					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTTAACTTTATCAAATACAT	0.328										Multiple Myeloma(4;0.011)																												uc001vix.3		NaN																	0				central_nervous_system(1)	1						c.(2713-2715)GAT>GAC		DIS3 mitotic control isoform a							109.0	100.0	103.0					13																	73334745		2203	4300	6503	SO:0001819	synonymous_variant	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73334745A>G	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2715T>C	13.37:g.73334745A>G		Multiple Myeloma(4;0.011)				DIS3_uc001viy.3_Silent_p.D875D|DIS3_uc001viz.2_RNA	p.D905D	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	20	3089	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	905					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	ENST00000377767.4	37	c.2715T>C	CCDS9447.1																																																																																				0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2		NM_014953		9	36	0	0	0	0.004482	0	9	36		
TBC1D4	9882	broad.mit.edu	37	13	75900527	75900527	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:75900527T>A	ENST00000377636.3	-	10	2185	c.1839A>T	c.(1837-1839)acA>acT	p.T613T	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.T613T|TBC1D4_ENST00000377625.2_Silent_p.T613T	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	613					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACGCTGGCGGTGTCCCTGGTG	0.587																																						uc001vjl.1		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1837-1839)ACA>ACT		TBC1 domain family, member 4							71.0	75.0	74.0					13																	75900527		2022	4175	6197	SO:0001819	synonymous_variant	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75900527T>A	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1839A>T	13.37:g.75900527T>A						TBC1D4_uc010aer.2_Silent_p.T613T|TBC1D4_uc010aes.2_Silent_p.T613T	p.T613T	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	10	2186	-		Prostate(6;0.014)|Breast(118;0.0982)	613					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Silent	SNP	ENST00000377636.3	37	c.1839A>T	CCDS41901.1																																																																																				0.587	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1		NM_014832		8	64	0	0	0	0.006214	0	8	64		
STK24	8428	broad.mit.edu	37	13	99114063	99114063	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:99114063C>G	ENST00000376547.3	-	8	1199	c.1054G>C	c.(1054-1056)Gga>Cga	p.G352R	STK24_ENST00000397517.2_Missense_Mutation_p.G340R|STK24_ENST00000539966.1_Missense_Mutation_p.G321R	NM_003576.3	NP_003567.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	352	Nuclear export signal (NES).				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of cell migration (GO:0030336)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of axon regeneration (GO:0048679)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGAAGAGCTCCATTCTCGAGA	0.512																																						uc001vnm.1		NaN																	0				ovary(1)|lung(1)	2						c.(1054-1056)GGA>CGA		serine/threonine kinase 24 isoform a							170.0	155.0	160.0					13																	99114063		2203	4300	6503	SO:0001583	missense	8428				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr13:99114063C>G	AF024636	CCDS9488.1, CCDS32001.1, CCDS66573.1	13q31.2-q32.3	2010-06-25	2010-06-25		ENSG00000102572	ENSG00000102572			11403	protein-coding gene	gene with protein product	"""STE20-like kinase 3"", ""sterile 20-like kinase 3"""	604984	"""serine/threonine kinase 24 (Ste20, yeast homolog)"""			9353338, 10644707	Standard	NM_003576		Approved	MST-3, MST3, MST3B, STK3, STE20	uc001vnn.1	Q9Y6E0	OTTHUMG00000017250	ENST00000376547.3:c.1054G>C	13.37:g.99114063C>G	ENSP00000365730:p.Gly352Arg					STK24_uc001vnn.1_Missense_Mutation_p.G340R|STK24_uc010tim.1_Missense_Mutation_p.G321R	p.G352R	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		8	1289	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		352					O14840|Q5JV92	Missense_Mutation	SNP	ENST00000376547.3	37	c.1054G>C	CCDS9488.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.25|19.25	3.790648|3.790648	0.70452|0.70452	.|.	.|.	ENSG00000102572|ENSG00000102572	ENST00000397517;ENST00000376554;ENST00000376547;ENST00000376541;ENST00000539966;ENST00000418038;ENST00000376533|ENST00000444574;ENST00000543110	T;T;T;T;T|.	0.71934|.	-0.58;3.77;-0.57;-0.61;1.41|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	0.245990|.	0.28192|.	U|.	0.016248|.	T|T	0.64789|0.64789	0.2630|0.2630	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	D;B;B|.	0.58970|.	0.984;0.154;0.105|.	D;B;B|.	0.65233|.	0.933;0.076;0.078|.	T|T	0.63875|0.63875	-0.6538|-0.6538	10|5	0.62326|.	D|.	0.03|.	.|.	11.6475|11.6475	0.51269|0.51269	0.0:0.918:0.0:0.082|0.0:0.918:0.0:0.082	.|.	321;340;352|.	B4DR80;Q5U0E6;Q9Y6E0|.	.;.;STK24_HUMAN|.	R|S	340;141;352;155;321;62;328|257;332	ENSP00000380651:G340R;ENSP00000365737:G141R;ENSP00000365730:G352R;ENSP00000442539:G321R;ENSP00000402810:G62R|.	ENSP00000365716:G328R|.	G|W	-|-	1|2	0|0	STK24|STK24	97912064|97912064	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.787000|0.787000	0.44495|0.44495	5.446000|5.446000	0.66600|0.66600	2.278000|2.278000	0.76064|0.76064	0.467000|0.467000	0.42956|0.42956	GGA|TGG		0.512	STK24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045549.2		NM_003576		42	208	0	0	0	0.01441	0	42	208		
MYO16	23026	broad.mit.edu	37	13	109562401	109562401	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:109562401C>G	ENST00000357550.2	+	15	1803	c.1762C>G	c.(1762-1764)Ctt>Gtt	p.L588V	MYO16_ENST00000457511.2_Missense_Mutation_p.L100V|MYO16_ENST00000356711.2_Missense_Mutation_p.L588V|MYO16_ENST00000251041.5_Missense_Mutation_p.L588V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TTCACAACCTCTTGGCCAGAG	0.358																																						uc001vqt.1		NaN																	0				ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(1762-1764)CTT>GTT		myosin heavy chain Myr 8							163.0	169.0	167.0					13																	109562401		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109562401C>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1762C>G	13.37:g.109562401C>G	ENSP00000350160:p.Leu588Val					MYO16_uc010agk.1_Missense_Mutation_p.L610V|MYO16_uc001vqu.1_Missense_Mutation_p.L388V|MYO16_uc010tjh.1_Missense_Mutation_p.L100V	p.L588V	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		16	1888	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		588			Myosin head-like 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.1762C>G	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	0.182	-1.061117	0.01950	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857;ENST00000457511	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.09	3.29	0.37713	Myosin head, motor domain (2);	0.426973	0.16951	U	0.192886	T	0.78464	0.4287	N	0.25201	0.72	0.18873	N	0.999989	B;B;B	0.18310	0.022;0.002;0.027	B;B;B	0.20384	0.006;0.002;0.029	T	0.60707	-0.7210	9	.	.	.	.	13.0394	0.58891	0.0:0.6921:0.3079:0.0	.	100;588;588	F8W883;Q9Y6X6-2;Q9Y6X6	.;.;MYO16_HUMAN	V	588;588;588;588;376;100	ENSP00000349145:L588V;ENSP00000350160:L588V;ENSP00000251041:L588V;ENSP00000401633:L100V	.	L	+	1	0	MYO16	108360402	0.222000	0.23652	0.036000	0.18154	0.984000	0.73092	0.855000	0.27805	0.493000	0.27837	0.591000	0.81541	CTT		0.358	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1		NM_015011		17	80	0	0	0	0.004007	0	17	80		
TUBGCP3	10426	broad.mit.edu	37	13	113208461	113208461	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr13:113208461G>C	ENST00000261965.3	-	8	1062	c.876C>G	c.(874-876)gtC>gtG	p.V292V	TUBGCP3_ENST00000375669.3_Silent_p.V292V	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	292					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAGAAAGCCTGACTGCTGTGT	0.403																																						uc001vse.1		NaN																	0				central_nervous_system(1)	1						c.(874-876)GTC>GTG		tubulin, gamma complex associated protein 3							92.0	88.0	89.0					13																	113208461		2203	4300	6503	SO:0001819	synonymous_variant	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113208461G>C	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.876C>G	13.37:g.113208461G>C						TUBGCP3_uc010tjq.1_Silent_p.V282V|TUBGCP3_uc001vsf.2_Silent_p.V292V|TUBGCP3_uc001vsg.1_Silent_p.V292V	p.V292V	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			8	1063	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		292					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	ENST00000261965.3	37	c.876C>G	CCDS9525.1																																																																																				0.403	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2		NM_006322		16	75	0	0	0	0.004007	0	16	75		
NEDD8	4738	broad.mit.edu	37	14	24687356	24687356	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:24687356G>A	ENST00000250495.5	-	3	318	c.132C>T	c.(130-132)atC>atT	p.I44I	NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Silent_p.I44I|MDP1_ENST00000396833.2_5'Flank|AL136419.6_ENST00000565988.1_RNA|NEDD8_ENST00000524927.1_Silent_p.I44I|MDP1_ENST00000288087.7_5'Flank|MDP1_ENST00000532557.1_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	44		Interaction with UBE1C.			anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TGCCACTGTAGATGAGCCTCT	0.522																																						uc001wnn.2		NaN																	0					0						c.(130-132)ATC>ATT		neural precursor cell expressed, developmentally							177.0	148.0	158.0					14																	24687356		2203	4300	6503	SO:0001819	synonymous_variant	4738				anatomical structure morphogenesis|protein neddylation|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin protein ligase binding	g.chr14:24687356G>A	D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.132C>T	14.37:g.24687356G>A						CHMP4A_uc001wnj.2_5'Flank|MDP1_uc001wnk.1_5'Flank|CHMP4A_uc001wnm.1_5'Flank|MDP1_uc001wnl.1_5'Flank|NEDD8_uc001wno.2_RNA	p.I44I	NM_006156	NP_006147	Q15843	NEDD8_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	235	-			44				Interaction with UBE1C.	Q3SXN8|Q6LES6	Silent	SNP	ENST00000250495.5	37	c.132C>T	CCDS9621.1																																																																																				0.522	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073146.2		NM_006156		47	83	0	0	0	0.01441	0	47	83		
CTSG	1511	broad.mit.edu	37	14	25045381	25045381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:25045381C>A	ENST00000216336.2	-	1	85	c.49G>T	c.(49-51)Gag>Tag	p.E17*		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	17					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCACCTGCCTCAGCCCCAGTG	0.542																																						uc001wpq.2		NaN																	0				ovary(2)	2						c.(49-51)GAG>TAG		cathepsin G preproprotein							64.0	55.0	58.0					14																	25045381		2203	4300	6503	SO:0001587	stop_gained	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25045381C>A	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.49G>T	14.37:g.25045381C>A	ENSP00000216336:p.Glu17*						p.E17*	NM_001911	NP_001902	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	1	86	-			17					Q6IBJ6|Q9UCA5|Q9UCU6	Nonsense_Mutation	SNP	ENST00000216336.2	37	c.49G>T	CCDS9631.1	.	.	.	.	.	.	.	.	.	.	c	13.52	2.262546	0.39995	.	.	ENSG00000100448	ENST00000216336	.	.	.	5.29	-10.6	0.00265	.	2.051990	0.02834	N	0.127063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	9.4449	0.38690	0.0:0.2741:0.3928:0.3332	.	.	.	.	X	17	.	ENSP00000216336:E17X	E	-	1	0	CTSG	24115221	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.471000	0.00229	-2.857000	0.00329	-0.940000	0.02684	GAG		0.542	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2		NM_001911		5	10	1	0	0.00116845	0.001168	0.00147706	5	10		
MIS18BP1	55320	broad.mit.edu	37	14	45679581	45679581	+	Splice_Site	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:45679581A>C	ENST00000310806.4	-	14	3611		c.e14+1			NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1						CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATGAATATTTACCTATTTATA	0.378																																						uc001wwf.2		NaN																	0					0						c.e14+1		chromosome 14 open reading frame 106							106.0	96.0	99.0					14																	45679581		2203	4300	6503	SO:0001630	splice_region_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45679581A>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3152+1T>G	14.37:g.45679581A>C							p.R1051_splice	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			14	3611	-								D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Splice_Site	SNP	ENST00000310806.4	37	c.3152_splice	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324689	0.60634	.	.	ENSG00000129534	ENST00000310806	.	.	.	5.64	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3254	0.43790	0.9223:0.0:0.0777:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MIS18BP1	44749331	1.000000	0.71417	0.987000	0.45799	0.842000	0.47809	4.675000	0.61619	0.967000	0.38186	0.460000	0.39030	.		0.378	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			Intron	9	27	0	0	0	0.008291	0	9	27		
CDKL1	8814	broad.mit.edu	37	14	50845115	50845115	+	5'UTR	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:50845115G>C	ENST00000356146.1	-	0	1133				CDKL1_ENST00000395834.1_Intron|CDKL1_ENST00000216378.2_Intron			Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)						heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					cagccgtcttgaaggggctgg	0.463																																						uc010anu.1		NaN																	0				ovary(1)|stomach(1)	2						c.(1132-1134)TTC>TTG		cyclin-dependent kinase-like 1							47.0	44.0	45.0					14																	50845115		876	1991	2867	SO:0001623	5_prime_UTR_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50845115G>C	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000356146.1:c.-1849C>G	14.37:g.50845115G>C						CDKL1_uc001wxz.2_Intron	p.F378L	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			9	1134	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		Error:Variant_position_missing_in_Q00532_after_alignment					Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000356146.1	37	c.1134C>G																																																																																					0.463	CDKL1-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000276873.2				10	31	0	0	0	0.006214	0	10	31		
PTGER2	5732	broad.mit.edu	37	14	52781368	52781368	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:52781368C>T	ENST00000245457.5	+	1	256	c.102C>T	c.(100-102)gcC>gcT	p.A34A	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	34					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TGTTCTCGGCCGGGGTGCTGG	0.682																																						uc001wzr.2		NaN																	0				lung(1)|breast(1)	2						c.(100-102)GCC>GCT		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						18.0	24.0	22.0					14																	52781368		2197	4299	6496	SO:0001819	synonymous_variant	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781368C>T		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.102C>T	14.37:g.52781368C>T							p.A34A	NM_000956	NP_000947	P43116	PE2R2_HUMAN			1	353	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		34			Helical; Name=1; (Potential).		D3DSC0|Q52LG8	Silent	SNP	ENST00000245457.5	37	c.102C>T	CCDS9708.1																																																																																				0.682	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1				20	19	0	0	0	0.010504	0	20	19		
RTN1	6252	broad.mit.edu	37	14	60193667	60193667	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:60193667G>C	ENST00000267484.5	-	3	2070	c.1735C>G	c.(1735-1737)Ccc>Gcc	p.P579A		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	579					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGCAGTGGGGGCGGGGCGCCA	0.582																																						uc001xen.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1735-1737)CCC>GCC		reticulon 1 isoform A							19.0	20.0	20.0					14																	60193667		2203	4299	6502	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193667G>C	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1735C>G	14.37:g.60193667G>C	ENSP00000267484:p.Pro579Ala					RTN1_uc001xem.1_Missense_Mutation_p.P159A	p.P579A	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1944	-			579					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1735C>G	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	4.662	0.123150	0.08931	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.23754	1.89	4.68	3.78	0.43462	.	0.376195	0.27447	N	0.019331	T	0.21347	0.0514	M	0.64997	1.995	0.09310	N	0.999999	B	0.23442	0.085	B	0.16289	0.015	T	0.09707	-1.0662	10	0.20519	T	0.43	.	6.6723	0.23076	0.1577:0.1524:0.6899:0.0	.	579	Q16799	RTN1_HUMAN	A	159;579;505	ENSP00000267484:P579A	ENSP00000267484:P579A	P	-	1	0	RTN1	59263420	0.716000	0.27956	0.681000	0.30009	0.010000	0.07245	1.519000	0.35888	2.138000	0.66242	0.563000	0.77884	CCC		0.582	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2				6	22	0	0	0	0.001984	0	6	22		
PPM1A	5494	broad.mit.edu	37	14	60749714	60749714	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:60749714A>G	ENST00000395076.4	+	2	723	c.293A>G	c.(292-294)aAg>aGg	p.K98R	PPM1A_ENST00000325658.3_Missense_Mutation_p.K98R|PPM1A_ENST00000529574.1_Missense_Mutation_p.K98R|PPM1A_ENST00000325642.3_Missense_Mutation_p.K171R	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	98					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GAAAATGTAAAGAATGGAATC	0.418																																						uc010apn.2		NaN																	0				skin(1)	1						c.(292-294)AAG>AGG		protein phosphatase 1A isoform 1							127.0	121.0	123.0					14																	60749714		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749714A>G	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.293A>G	14.37:g.60749714A>G	ENSP00000378514:p.Lys98Arg					PPM1A_uc001xew.3_Missense_Mutation_p.K171R|PPM1A_uc001xex.3_Missense_Mutation_p.K98R|PPM1A_uc001xey.3_Missense_Mutation_p.K98R	p.K98R	NM_021003	NP_066283	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	695	+			98					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.293A>G	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989126	0.53934	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.75	5.75	0.90469	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	L	0.31752	0.955	0.80722	D	1	B;B;B	0.18461	0.028;0.002;0.028	B;B;B	0.20577	0.03;0.006;0.028	T	0.08889	-1.0700	9	.	.	.	-4.9807	16.0345	0.80612	1.0:0.0:0.0:0.0	.	98;98;98	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	R	171;98;98;98;98;98;98	ENSP00000327255:K171R;ENSP00000432966:K98R;ENSP00000378514:K98R;ENSP00000314850:K98R;ENSP00000431453:K98R;ENSP00000435398:K98R;ENSP00000435575:K98R	.	K	+	2	0	PPM1A	59819467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.183000	0.69458	0.482000	0.46254	AAG		0.418	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2		NM_021003		27	68	0	0	0	0.004656	0	27	68		
SYNE2	23224	broad.mit.edu	37	14	64497985	64497985	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:64497985C>G	ENST00000344113.4	+	45	7343	c.7131C>G	c.(7129-7131)ggC>ggG	p.G2377G	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.G2377G|SYNE2_ENST00000554584.1_Silent_p.G2377G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2377					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTCTGCCAGGCAGAGAGAAGC	0.453																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(7129-7131)GGC>GGG		spectrin repeat containing, nuclear envelope 2							67.0	70.0	69.0					14																	64497985		1908	4123	6031	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64497985C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7131C>G	14.37:g.64497985C>G						SYNE2_uc001xgl.2_Silent_p.G2377G	p.G2377G	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	45	7361	+			2377			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.7131C>G	CCDS41963.1																																																																																				0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		25	76	0	0	0	0.021523	0	25	76		
PTPN21	11099	broad.mit.edu	37	14	88936060	88936060	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:88936060C>A	ENST00000556564.1	-	17	3302	c.3018G>T	c.(3016-3018)aaG>aaT	p.K1006N	PTPN21_ENST00000328736.3_Missense_Mutation_p.K1006N	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1006	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTAAAGCTCTTCTCCCTTC	0.502																																						uc001xwv.3		NaN																	0				ovary(3)|skin(1)	4						c.(3016-3018)AAG>AAT		protein tyrosine phosphatase, non-receptor type							119.0	95.0	103.0					14																	88936060		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88936060C>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3018G>T	14.37:g.88936060C>A	ENSP00000452414:p.Lys1006Asn					PTPN21_uc010twc.1_Missense_Mutation_p.K802N	p.K1006N	NM_007039	NP_008970	Q16825	PTN21_HUMAN			17	3349	-			1006			Tyrosine-protein phosphatase.			Missense_Mutation	SNP	ENST00000556564.1	37	c.3018G>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154302	0.78114	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.20332	2.08;2.08	5.85	5.85	0.93711	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.92077	3.27	0.43069	D	0.994702	D	0.89917	1.0	D	0.91635	0.999	T	0.62676	-0.6804	10	0.87932	D	0	.	9.888	0.41272	0.0:0.8136:0.0:0.1864	.	1006	Q16825	PTN21_HUMAN	N	1006	ENSP00000330276:K1006N;ENSP00000452414:K1006N	ENSP00000330276:K1006N	K	-	3	2	PTPN21	88005813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.186000	0.42593	2.773000	0.95371	0.655000	0.94253	AAG		0.502	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1				9	20	1	0	9.70103e-10	0.008291	1.30609e-09	9	20		
EML5	161436	broad.mit.edu	37	14	89109329	89109329	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:89109329C>G	ENST00000380664.5	-	29	4120	c.4121G>C	c.(4120-4122)aGa>aCa	p.R1374T	EML5_ENST00000554922.1_Missense_Mutation_p.R1382T|EML5_ENST00000352093.5_Missense_Mutation_p.R1336T			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1374						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTACAGTCTCTGCCTCGATA	0.338																																						uc001xxg.2		NaN																	0				ovary(3)	3						c.(4144-4146)AGA>ACA		echinoderm microtubule associated protein like							119.0	114.0	116.0					14																	89109329		1861	4101	5962	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89109329C>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4121G>C	14.37:g.89109329C>G	ENSP00000370039:p.Arg1374Thr					EML5_uc001xxf.2_Missense_Mutation_p.R169T|EML5_uc001xxh.1_Missense_Mutation_p.R513T	p.R1382T	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			31	4331	-			1374					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.4145G>C	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399507	0.25291	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.32988	1.43;1.43;1.43	5.7	4.82	0.62117	HELP (1);WD40 repeat-like-containing domain (1);	0.245872	0.41294	D	0.000915	T	0.22205	0.0535	L	0.43152	1.355	0.28908	N	0.892894	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17440	-1.0369	10	0.17832	T	0.49	-16.9021	6.9545	0.24563	0.0:0.7094:0.0:0.2906	.	1382;1374	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	T	1382;1336;1374	ENSP00000451998:R1382T;ENSP00000298315:R1336T;ENSP00000370039:R1374T	ENSP00000298315:R1336T	R	-	2	0	EML5	88179082	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.903000	0.39858	1.403000	0.46800	0.591000	0.81541	AGA		0.338	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1				16	45	0	0	0	0.00499	0	16	45		
BTBD7	55727	broad.mit.edu	37	14	93717986	93717986	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:93717986C>T	ENST00000334746.5	-	8	2072	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	BTBD7_ENST00000393170.2_Missense_Mutation_p.E163K|BTBD7_ENST00000554565.1_Missense_Mutation_p.E238K	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	589					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACCATCATCTCATCTAGCACT	0.403																																						uc001ybo.2		NaN																	0				pancreas(1)	1						c.(1765-1767)GAG>AAG		BTB (POZ) domain containing 7 isoform 1							171.0	139.0	150.0					14																	93717986		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93717986C>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1765G>A	14.37:g.93717986C>T	ENSP00000335615:p.Glu589Lys					BTBD7_uc010aur.2_Missense_Mutation_p.E114K|BTBD7_uc010two.1_Missense_Mutation_p.E409K|BTBD7_uc001ybp.2_Missense_Mutation_p.E238K	p.E589K	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	8	2091	-		all_cancers(154;0.08)	589					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.1765G>A	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184161	0.94885	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.51574	1.04;0.7	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.993	D;D;D	0.87578	0.998;0.994;0.971	T	0.68546	-0.5380	10	0.72032	D	0.01	.	19.8205	0.96591	0.0:1.0:0.0:0.0	.	163;238;589	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	K	589;238;204;163	ENSP00000335615:E589K;ENSP00000451010:E238K	ENSP00000335615:E589K	E	-	1	0	BTBD7	92787739	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	7.485000	0.81204	2.684000	0.91462	0.591000	0.81541	GAG		0.403	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1		NM_001002860		49	37	0	0	0	0.01441	0	49	37		
DYNC1H1	1778	broad.mit.edu	37	14	102510695	102510695	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr14:102510695G>C	ENST00000360184.4	+	71	12933	c.12769G>C	c.(12769-12771)Gac>Cac	p.D4257H	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4257					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGGCGCGTGGACAACGAGTT	0.557																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(12769-12771)GAC>CAC		cytoplasmic dynein 1 heavy chain 1							60.0	51.0	54.0					14																	102510695		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102510695G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12769G>C	14.37:g.102510695G>C	ENSP00000348965:p.Asp4257His						p.D4257H	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			71	12933	+			4257					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12769G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470154	0.84533	.	.	ENSG00000197102	ENST00000360184	T	0.09630	2.96	5.37	5.37	0.77165	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.40222	0.1108	M	0.87617	2.895	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.43032	-0.9416	10	0.66056	D	0.02	.	19.1163	0.93343	0.0:0.0:1.0:0.0	.	4257	Q14204	DYHC1_HUMAN	H	4257	ENSP00000348965:D4257H	ENSP00000348965:D4257H	D	+	1	0	DYNC1H1	101580448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.513000	0.84729	0.650000	0.86243	GAC		0.557	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		10	18	0	0	0	0.013537	0	10	18		
EIF2AK4	440275	broad.mit.edu	37	15	40301819	40301819	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:40301819G>C	ENST00000263791.5	+	26	3624	c.3581G>C	c.(3580-3582)aGa>aCa	p.R1194T	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1166T	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1194	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCCCAGGAAAGAAATTACAGT	0.333																																						uc001zkm.1		NaN																	0				lung(2)|stomach(1)|skin(1)	4						c.(3580-3582)AGA>ACA		eukaryotic translation initiation factor 2 alpha							70.0	66.0	67.0					15																	40301819		1812	4066	5878	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40301819G>C	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3581G>C	15.37:g.40301819G>C	ENSP00000263791:p.Arg1194Thr					EIF2AK4_uc010bbj.1_Missense_Mutation_p.R895T|EIF2AK4_uc001zkn.1_Missense_Mutation_p.R294T|EIF2AK4_uc001zko.1_Missense_Mutation_p.R132T|EIF2AK4_uc010bbk.1_RNA	p.R1194T	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	26	3631	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1194			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.3581G>C	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120264	0.77323	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.41065	1.01;1.01	5.65	4.73	0.59995	.	0.047345	0.85682	D	0.000000	T	0.58119	0.2100	L	0.58428	1.81	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.54105	-0.8343	10	0.20046	T	0.44	-15.5866	14.4443	0.67340	0.0706:0.0:0.9294:0.0	.	1166;1194	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	T	1194;1166	ENSP00000263791:R1194T;ENSP00000372174:R1166T	ENSP00000263791:R1194T	R	+	2	0	EIF2AK4	38089111	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.340000	0.72973	1.387000	0.46486	0.585000	0.79938	AGA		0.333	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1				9	28	0	0	0	0.004482	0	9	28		
ITPKA	3706	broad.mit.edu	37	15	41794660	41794660	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:41794660C>T	ENST00000260386.5	+	5	1122	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	357					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCAGGTGCTTCGCGTCTTTGA	0.622																																						uc001znz.2		NaN																	0					0						c.(1069-1071)CGC>TGC		1D-myo-inositol-trisphosphate 3-kinase A							71.0	73.0	72.0					15																	41794660		2203	4300	6503	SO:0001583	missense	3706				signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr15:41794660C>T	X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.1069C>T	15.37:g.41794660C>T	ENSP00000260386:p.Arg357Cys						p.R357C	NM_002220	NP_002211	P23677	IP3KA_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	5	1080	+		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	357					Q8TAN3	Missense_Mutation	SNP	ENST00000260386.5	37	c.1069C>T	CCDS10076.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975274	0.53720	.	.	ENSG00000137825	ENST00000425927;ENST00000260386	T;T	0.14640	2.49;2.49	4.8	4.8	0.61643	.	0.120199	0.56097	D	0.000025	T	0.22244	0.0536	L	0.28556	0.865	0.46749	D	0.999183	D	0.89917	1.0	P	0.58873	0.847	T	0.00878	-1.1530	10	0.72032	D	0.01	-10.3857	15.1673	0.72840	0.0:1.0:0.0:0.0	.	357	P23677	IP3KA_HUMAN	C	252;357	ENSP00000396560:R252C;ENSP00000260386:R357C	ENSP00000260386:R357C	R	+	1	0	ITPKA	39581952	0.007000	0.16637	0.244000	0.24202	0.981000	0.71138	1.186000	0.32078	2.497000	0.84241	0.655000	0.94253	CGC		0.622	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252695.3		NM_002220		33	67	0	0	0	0.017118	0	33	67		
SLC24A5	283652	broad.mit.edu	37	15	48434351	48434351	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:48434351A>G	ENST00000341459.3	+	9	1379	c.1306A>G	c.(1306-1308)Aga>Gga	p.R436G	MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.R376G|MYEF2_ENST00000324324.7_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	436					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		AGTAAACAGCAGAGGACTAAC	0.363																																						uc001zwe.2		NaN																	0					0						c.(1306-1308)AGA>GGA		solute carrier family 24, member 5 precursor							178.0	186.0	183.0					15																	48434351		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434351A>G	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1306A>G	15.37:g.48434351A>G	ENSP00000341550:p.Arg436Gly					SLC24A5_uc010bel.2_Missense_Mutation_p.R376G|MYEF2_uc001zwg.3_3'UTR|MYEF2_uc001zwh.3_3'UTR|MYEF2_uc001zwi.3_3'UTR|MYEF2_uc001zwj.3_3'UTR|SLC24A5_uc001zwk.2_Missense_Mutation_p.R67G	p.R436G	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	9	1379	+		all_lung(180;0.00217)	436			Cytoplasmic (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.1306A>G	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	A	9.353	1.066128	0.20067	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.62232	0.04;0.04	5.86	3.57	0.40892	Sodium/calcium exchanger membrane region (1);	0.365521	0.35320	N	0.003300	T	0.39064	0.1064	N	0.10945	0.07	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14448	-1.0472	10	0.23891	T	0.37	.	10.0689	0.42322	0.8648:0.0:0.1352:0.0	.	376;436	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	G	436;376	ENSP00000341550:R436G;ENSP00000389966:R376G	ENSP00000341550:R436G	R	+	1	2	SLC24A5	46221643	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.556000	0.36288	1.156000	0.42514	0.528000	0.53228	AGA		0.363	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2		NM_205850		16	37	0	0	0	0.003163	0	16	37		
USP8	9101	broad.mit.edu	37	15	50784944	50784944	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:50784944C>G	ENST00000396444.3	+	15	2619	c.2281C>G	c.(2281-2283)Cag>Gag	p.Q761E	USP8_ENST00000433963.1_Missense_Mutation_p.Q761E|USP8_ENST00000425032.3_Missense_Mutation_p.Q655E|USP8_ENST00000307179.4_Missense_Mutation_p.Q761E|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	761					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTGCTTCTCAGATTCGGAA	0.388																																						uc001zym.3		NaN																	0				lung(1)|central_nervous_system(1)	2						c.(2281-2283)CAG>GAG		ubiquitin specific peptidase 8							133.0	121.0	125.0					15																	50784944		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50784944C>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2281C>G	15.37:g.50784944C>G	ENSP00000379721:p.Gln761Glu					USP8_uc001zyl.3_Missense_Mutation_p.Q761E|USP8_uc001zyn.3_Missense_Mutation_p.Q761E|USP8_uc010ufh.1_Missense_Mutation_p.Q655E|uc001zyo.1_RNA|USP8_uc001zyp.3_5'Flank	p.Q761E	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	16	2781	+			761					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.2281C>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925128	0.52759	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.22	5.22	0.72569	.	0.469632	0.25186	N	0.032498	T	0.10852	0.0265	N	0.19112	0.55	0.49130	D	0.999758	B;B	0.13594	0.008;0.008	B;B	0.10450	0.001;0.005	T	0.10132	-1.0643	10	0.08381	T	0.77	-11.9491	14.0407	0.64674	0.151:0.849:0.0:0.0	.	655;761	B4DKA8;P40818	.;UBP8_HUMAN	E	761;761;761;655	ENSP00000379721:Q761E;ENSP00000405537:Q761E;ENSP00000302239:Q761E;ENSP00000412682:Q655E	ENSP00000302239:Q761E	Q	+	1	0	USP8	48572236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.937000	0.48979	2.593000	0.87608	0.650000	0.86243	CAG		0.388	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1		NM_005154		19	65	0	0	0	0.012319	0	19	65		
WDR72	256764	broad.mit.edu	37	15	54008834	54008834	+	Silent	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:54008834A>T	ENST00000396328.1	-	4	548	c.309T>A	c.(307-309)gcT>gcA	p.A103A	WDR72_ENST00000559418.1_Silent_p.A103A|WDR72_ENST00000557913.1_Silent_p.A103A|WDR72_ENST00000360509.5_Silent_p.A103A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	103										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGGAAGTGTAGCCTTCTCCA	0.428																																						uc002acj.2		NaN																	0				lung(1)|skin(1)	2						c.(307-309)GCT>GCA		WD repeat domain 72							252.0	202.0	219.0					15																	54008834		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54008834A>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.309T>A	15.37:g.54008834A>T						WDR72_uc010bfi.1_Silent_p.A103A	p.A103A	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	4	351	-			103					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.309T>A	CCDS10151.1																																																																																				0.428	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2		NM_182758		9	25	0	0	0	0.008291	0	9	25		
MYZAP	100820829	broad.mit.edu	37	15	57921940	57921940	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:57921940A>T	ENST00000267853.5	+	6	660	c.566A>T	c.(565-567)aAg>aTg	p.K189M	GCOM1_ENST00000380561.2_Missense_Mutation_p.K158M|GCOM1_ENST00000572390.1_Missense_Mutation_p.K189M|GCOM1_ENST00000380569.2_Missense_Mutation_p.K189M|GCOM1_ENST00000574161.1_Missense_Mutation_p.K189M|POLR2M_ENST00000380563.2_De_novo_Start_OutOfFrame|GCOM1_ENST00000396180.1_Missense_Mutation_p.K158M|GCOM1_ENST00000380568.3_Missense_Mutation_p.K189M|GCOM1_ENST00000380560.2_Missense_Mutation_p.K120M|GCOM1_ENST00000587652.1_Missense_Mutation_p.K189M|MYZAP_ENST00000380565.4_Missense_Mutation_p.K189M			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	189					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AGCAACATTAAGGATCAAATC	0.458																																						uc002aei.2		NaN																	0				ovary(1)	1						c.(565-567)AAG>ATG		GRINL1A upstream protein isoform 7							101.0	93.0	96.0					15																	57921940		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57921940A>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.566A>T	15.37:g.57921940A>T	ENSP00000267853:p.Lys189Met					GCOM1_uc002aej.2_Missense_Mutation_p.K189M|GCOM1_uc002aek.2_RNA|GCOM1_uc002ael.2_RNA|GCOM1_uc002aem.2_Missense_Mutation_p.K189M|GCOM1_uc002aeq.2_RNA|GCOM1_uc002aen.2_RNA|GCOM1_uc010bfy.2_RNA|GCOM1_uc002aeo.2_Missense_Mutation_p.K189M|GCOM1_uc002aep.2_RNA|GCOM1_uc010bfx.2_RNA	p.K189M	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN			6	685	+			189			Potential.		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.566A>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009895	0.54361	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.43	4.31	0.51392	.	0.095411	0.64402	D	0.000001	T	0.51907	0.1702	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.971;0.971;0.989;0.983	T	0.51545	-0.8692	10	0.72032	D	0.01	-36.3393	8.2872	0.31935	0.8384:0.0:0.1616:0.0	.	189;189;189;189	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	M	189;158;158;120;189;189;189	ENSP00000369943:K189M;ENSP00000369935:K158M;ENSP00000379483:K158M;ENSP00000369933:K120M;ENSP00000267853:K189M;ENSP00000369939:K189M;ENSP00000369942:K189M	ENSP00000267853:K189M	K	+	2	0	GCOM1	55709232	1.000000	0.71417	0.870000	0.34147	0.722000	0.41435	3.222000	0.51223	0.903000	0.36546	-0.256000	0.11100	AAG		0.458	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2		NM_001018100		13	34	0	0	0	0.016723	0	13	34		
VPS13C	54832	broad.mit.edu	37	15	62219320	62219320	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:62219320G>C	ENST00000261517.5	-	52	6559	c.6486C>G	c.(6484-6486)ctC>ctG	p.L2162L	VPS13C_ENST00000395896.4_Silent_p.L2162L|VPS13C_ENST00000249837.3_Silent_p.L2119L|VPS13C_ENST00000395898.3_Silent_p.L2119L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTTTCTCTGAGAAAAGGGC	0.423																																						uc002agz.2		NaN																	0				ovary(2)	2						c.(6484-6486)CTC>CTG		vacuolar protein sorting 13C protein isoform 2A							112.0	111.0	111.0					15																	62219320		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62219320G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6486C>G	15.37:g.62219320G>C						VPS13C_uc002aha.2_Silent_p.L2119L|VPS13C_uc002ahb.1_Silent_p.L2162L|VPS13C_uc002ahc.1_Silent_p.L2119L	p.L2162L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			52	6560	-			2162						Silent	SNP	ENST00000261517.5	37	c.6486C>G	CCDS32257.1																																																																																				0.423	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1		NM_017684		34	71	0	0	0	0.017118	0	34	71		
MPI	4351	broad.mit.edu	37	15	75183880	75183880	+	Missense_Mutation	SNP	C	C	T	rs104894494		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:75183880C>T	ENST00000352410.4	+	3	372	c.305C>T	c.(304-306)tCa>tTa	p.S102L	MPI_ENST00000562606.1_Missense_Mutation_p.S82L|MPI_ENST00000566377.1_Missense_Mutation_p.S102L|MPI_ENST00000563422.1_Missense_Mutation_p.S102L|MPI_ENST00000565576.1_Missense_Mutation_p.S102L|MPI_ENST00000323744.6_Missense_Mutation_p.S102L|MPI_ENST00000564003.1_Missense_Mutation_p.S52L|MPI_ENST00000535694.1_Missense_Mutation_p.S52L|MPI_ENST00000563786.1_Missense_Mutation_p.S82L			P34949	MPI_HUMAN	mannose phosphate isomerase	102			S -> L (in CDG1B). {ECO:0000269|PubMed:9585601}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						AAAGTGCTCTCAGTTGAAACA	0.532																																						uc002azc.1		NaN																	0				ovary(2)	2	GRCh37	CM981303	MPI	M	rs104894494	c.(304-306)TCA>TTA		mannose-6- phosphate isomerase							182.0	152.0	162.0					15																	75183880		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75183880C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.305C>T	15.37:g.75183880C>T	ENSP00000318318:p.Ser102Leu					MPI_uc010ulv.1_Missense_Mutation_p.S102L|MPI_uc010ulw.1_Missense_Mutation_p.S52L|MPI_uc002azd.1_Missense_Mutation_p.S102L|MPI_uc010ulx.1_Missense_Mutation_p.S52L|MPI_uc002aze.1_Missense_Mutation_p.S102L	p.S102L	NM_002435	NP_002426	P34949	MPI_HUMAN			3	310	+			102		S -> L (in CDG1B).			A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.305C>T	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230996	0.95207	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000379693;ENST00000323744	D;D;D	0.97430	-4.38;-4.38;-4.38	4.96	4.96	0.65561	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.99064	0.9679	H	0.97465	4.01	0.80722	A	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;0.999;1.0;0.998;0.999	D	0.99264	1.0891	9	0.87932	D	0	.	16.8062	0.85706	0.0:1.0:0.0:0.0	.	52;102;102;82;102	B4DYB8;B4DFC4;P34949-2;Q8NHZ6;P34949	.;.;.;.;MPI_HUMAN	L	102;52;82;102	ENSP00000318318:S102L;ENSP00000440447:S52L;ENSP00000318192:S102L	ENSP00000318192:S102L	S	+	2	0	MPI	72970933	1.000000	0.71417	0.956000	0.39512	0.987000	0.75469	7.606000	0.82863	2.298000	0.77334	0.462000	0.41574	TCA		0.532	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4				44	107	0	0	0	0.01441	0	44	107		
WFIKKN1	117166	broad.mit.edu	37	16	683267	683267	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:683267C>T	ENST00000319070.2	+	2	1179	c.857C>T	c.(856-858)gCc>gTc	p.A286V		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	286					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CGAGAGCCGGCCAGGGACGCA	0.716																																						uc002cht.1		NaN																	0					0						c.(856-858)GCC>GTC		WAP, follistatin/kazal, immunoglobulin, kunitz							6.0	7.0	7.0					16																	683267		2102	4111	6213	SO:0001583	missense	117166					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr16:683267C>T	AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.857C>T	16.37:g.683267C>T	ENSP00000324763:p.Ala286Val					WFIKKN1_uc002chs.1_3'UTR	p.A286V	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN			2	1099	+		Hepatocellular(780;0.00335)	286					Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	ENST00000319070.2	37	c.857C>T	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	c	8.349	0.830389	0.16749	.	.	ENSG00000127578	ENST00000319070	T	0.68331	-0.32	4.38	3.35	0.38373	.	0.763568	0.12176	N	0.492527	T	0.59418	0.2192	L	0.50333	1.59	0.09310	N	1	B	0.24186	0.099	B	0.19391	0.025	T	0.48681	-0.9014	10	0.29301	T	0.29	.	12.1605	0.54101	0.0:0.7314:0.2686:0.0	.	286	Q96NZ8	WFKN1_HUMAN	V	286	ENSP00000324763:A286V	ENSP00000324763:A286V	A	+	2	0	WFIKKN1	623268	0.000000	0.05858	0.024000	0.17045	0.653000	0.38743	0.296000	0.19083	1.987000	0.57996	0.556000	0.70494	GCC		0.716	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2		NM_053284		4	10	0	0	0	0.009096	0	4	10		
NUBP2	10101	broad.mit.edu	37	16	1836612	1836612	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:1836612A>G	ENST00000262302.9	+	2	211	c.91A>G	c.(91-93)Atc>Gtc	p.I31V	NUBP2_ENST00000565134.1_Missense_Mutation_p.I31V|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000565987.1_5'UTR	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1			nucleotide binding protein 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAAAAGCACCATCTCCACGGA	0.662																																						uc002cmw.3		NaN																	0					0						c.(91-93)ATC>GTC		nucleotide binding protein 2 (MinD homolog, E.							65.0	62.0	63.0					16																	1836612		2198	4300	6498	SO:0001583	missense	10101					microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	g.chr16:1836612A>G	AF118394	CCDS10445.1, CCDS66898.1	16p13.3	2011-05-19	2011-05-19		ENSG00000095906	ENSG00000095906			8042	protein-coding gene	gene with protein product		610779	"""nucleotide binding protein 2 (E.coli MinD like)"", ""nucleotide binding protein 2 (MinD homolog, E. coli)"""			10486206	Standard	XM_005255025		Approved	CFD1	uc002cmw.4	Q9Y5Y2	OTTHUMG00000128639	ENST00000262302.9:c.91A>G	16.37:g.1836612A>G	ENSP00000262302:p.Ile31Val					NUBP2_uc002cmx.3_5'UTR|NUBP2_uc010brx.2_5'UTR	p.I31V	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN			2	180	+			31						Missense_Mutation	SNP	ENST00000262302.9	37	c.91A>G	CCDS10445.1	.	.	.	.	.	.	.	.	.	.	A	2.430	-0.331008	0.05314	.	.	ENSG00000095906	ENST00000262302	T	0.41065	1.01	4.41	0.918	0.19386	.	0.116290	0.64402	N	0.000018	T	0.08403	0.0209	N	0.00217	-1.83	0.80722	D	1	B	0.15141	0.012	B	0.21546	0.035	T	0.38757	-0.9646	10	0.02654	T	1	-2.9719	7.4557	0.27266	0.7286:0.0:0.2714:0.0	.	31	Q9Y5Y2	NUBP2_HUMAN	V	31	ENSP00000262302:I31V	ENSP00000262302:I31V	I	+	1	0	NUBP2	1776613	0.000000	0.05858	0.988000	0.46212	0.829000	0.46940	-0.688000	0.05150	-0.122000	0.11766	-0.375000	0.07067	ATC		0.662	NUBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250510.1		NM_012225		13	85	0	0	0	0.016723	0	13	85		
TSC2	7249	broad.mit.edu	37	16	2110796	2110796	+	Silent	SNP	G	G	A	rs45517149		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:2110796G>A	ENST00000219476.3	+	11	1731	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	TSC2_ENST00000353929.4_Silent_p.R367R|TSC2_ENST00000382538.6_Silent_p.R318R|TSC2_ENST00000401874.2_Silent_p.R367R|TSC2_ENST00000350773.4_Silent_p.R367R|TSC2_ENST00000439673.2_Silent_p.R330R|TSC2_ENST00000568454.1_Silent_p.R378R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	367	Required for interaction with TSC1.		R -> Q (in dbSNP:rs1800725). {ECO:0000269|PubMed:15595939}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCATCGAACGGCTCCTTCAGC	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2		NaN	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			0				central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(1099-1101)CGG>CGA		tuberous sclerosis 2 isoform 1							86.0	73.0	78.0					16																	2110796		2198	4300	6498	SO:0001819	synonymous_variant	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2110796G>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1101G>A	16.37:g.2110796G>A						TSC2_uc010bsd.2_Silent_p.R367R|TSC2_uc002coo.2_Silent_p.R367R|TSC2_uc010uvv.1_Silent_p.R330R|TSC2_uc010uvw.1_Silent_p.R318R|TSC2_uc002cop.2_Silent_p.R167R	p.R367R	NM_000548	NP_000539	P49815	TSC2_HUMAN			11	1207	+		Hepatocellular(780;0.0202)	367			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.1101G>A	CCDS10458.1																																																																																				0.602	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2		NM_000548		24	35	0	0	0	0.014323	0	24	35		
PRSS21	10942	broad.mit.edu	37	16	2868796	2868796	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:2868796C>T	ENST00000005995.3	+	4	418	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	PRSS21_ENST00000450020.3_Silent_p.L126L|PRSS21_ENST00000455114.1_Silent_p.L124L			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	126	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GAATATCTATCTGAGCCCTCG	0.537																																						uc002crt.2		NaN																	0				ovary(1)|skin(1)	2						c.(376-378)CTG>TTG		testisin isoform 1							197.0	159.0	172.0					16																	2868796		2198	4300	6498	SO:0001819	synonymous_variant	10942				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	g.chr16:2868796C>T	AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"""Serine peptidases / Serine peptidases"""	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.376C>T	16.37:g.2868796C>T						PRSS21_uc002crs.2_Silent_p.L124L|PRSS21_uc002crr.2_Silent_p.L126L	p.L126L	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN			4	482	+			126			Peptidase S1.		Q9NS34|Q9P2V6	Silent	SNP	ENST00000005995.3	37	c.376C>T	CCDS10478.1																																																																																				0.537	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250910.1		NM_006799		26	116	0	0	0	0.005443	0	26	116		
SLX4	84464	broad.mit.edu	37	16	3641148	3641148	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:3641148C>A	ENST00000294008.3	-	12	3131	c.2491G>T	c.(2491-2493)Gag>Tag	p.E831*		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	831	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AACAAAGTCTCCGCTTCCTCC	0.453								Direct reversal of damage																														uc002cvp.2		NaN																	0					0						c.(2491-2493)GAG>TAG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							173.0	180.0	177.0					16																	3641148		2197	4300	6497	SO:0001587	stop_gained	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3641148C>A	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2491G>T	16.37:g.3641148C>A	ENSP00000294008:p.Glu831*						p.E831*	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			12	3118	-			831			Potential.|Interaction with PLK1 and TERF2-TERF2IP.|Glu-rich.		Q69YT8|Q8TF15|Q96JP1	Nonsense_Mutation	SNP	ENST00000294008.3	37	c.2491G>T	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	46	12.185424	0.99644	.	.	ENSG00000188827	ENST00000294008	.	.	.	5.42	4.47	0.54385	.	0.251116	0.33938	N	0.004402	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	13.3087	0.60368	0.0:0.9238:0.0:0.0762	.	.	.	.	X	831	.	ENSP00000294008:E831X	E	-	1	0	SLX4	3581149	0.055000	0.20627	0.992000	0.48379	0.965000	0.64279	3.139000	0.50577	1.288000	0.44600	0.561000	0.74099	GAG		0.453	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3		NM_032444		69	101	1	0	2.94884e-30	0.01441	4.17374e-30	69	101		
VASN	114990	broad.mit.edu	37	16	4431070	4431070	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:4431070C>T	ENST00000304735.3	+	2	347	c.192C>T	c.(190-192)atC>atT	p.I64I	CORO7_ENST00000537233.2_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	64					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						AGAACGGCATCACCATGCTCG	0.672																																						uc002cwj.1		NaN																	0					0						c.(190-192)ATC>ATT		slit-like 2 precursor							21.0	20.0	20.0					16																	4431070		2189	4295	6484	SO:0001819	synonymous_variant	114990					extracellular region|integral to membrane		g.chr16:4431070C>T	AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.192C>T	16.37:g.4431070C>T						CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	p.I64I	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN			2	347	+			64			Extracellular (Potential).|LRR 1.		Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	ENST00000304735.3	37	c.192C>T	CCDS10514.1																																																																																				0.672	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251632.1		NM_138440		7	13	0	0	0	0.00308	0	7	13		
NAGPA	51172	broad.mit.edu	37	16	5075523	5075523	+	Missense_Mutation	SNP	C	C	T	rs201559606		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:5075523C>T	ENST00000312251.3	-	10	1523	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.E468K	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	502					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	TGCTCCTTCTCTGCGGCCAGA	0.647																																						uc002cyg.2		NaN																	0					0						c.(1504-1506)GAG>AAG		N-acetylglucosamine-1-phosphodiester	N-Acetyl-D-glucosamine(DB00141)						89.0	102.0	97.0					16																	5075523		2197	4300	6497	SO:0001583	missense	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5075523C>T	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1504G>A	16.37:g.5075523C>T	ENSP00000310998:p.Glu502Lys					NAGPA_uc010buc.2_Missense_Mutation_p.E199K|NAGPA_uc002cyf.2_Missense_Mutation_p.E220K|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_3'UTR	p.E502K	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN			10	1525	-			502			Cytoplasmic (Potential).		B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	c.1504G>A	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066553	0.76187	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.39406	1.08;1.14	5.18	5.18	0.71444	.	0.290293	0.32687	N	0.005766	T	0.52757	0.1754	L	0.59436	1.845	0.34582	D	0.714536	D;P	0.60575	0.988;0.884	P;P	0.54759	0.76;0.503	T	0.65853	-0.6067	10	0.49607	T	0.09	-16.4084	14.199	0.65690	0.0:1.0:0.0:0.0	.	502;468	Q9UK23;Q9UK23-2	NAGPA_HUMAN;.	K	502;468	ENSP00000310998:E502K;ENSP00000371381:E468K	ENSP00000310998:E502K	E	-	1	0	NAGPA	5015524	0.948000	0.32251	0.990000	0.47175	0.440000	0.31957	2.020000	0.41010	2.422000	0.82143	0.561000	0.74099	GAG		0.647	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1		NM_016256		58	238	0	0	0	0.01441	0	58	238		
RMI2	116028	broad.mit.edu	37	16	11444614	11444614	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:11444614G>A	ENST00000312499.5	+	2	452	c.411G>A	c.(409-411)ctG>ctA	p.L137L	RMI2_ENST00000576027.1_3'UTR|AC009121.1_ENST00000458885.1_RNA|RP11-485G7.6_ENST00000574681.1_RNA|RMI2_ENST00000381820.2_Silent_p.L74L|RMI2_ENST00000572173.1_Silent_p.L74L	NM_152308.1	NP_689521.1	Q96E14	RMI2_HUMAN	RecQ mediated genome instability 2	137					DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|ovary(1)	3						TGTGGGAACTGGAGGTAGAAG	0.438																																						uc002daw.1		NaN								T					CIITA		PMBL|Hodgkin Lymphona|		0					0						c.(409-411)CTG>CTA		RecQ-mediated genome instability protein 2							102.0	95.0	98.0					16																	11444614		2197	4300	6497	SO:0001819	synonymous_variant	116028				DNA replication	nucleus	DNA binding	g.chr16:11444614G>A	AK123764	CCDS10548.1	16p13.13	2013-06-10	2013-06-10	2011-06-09	ENSG00000175643	ENSG00000175643			28349	protein-coding gene	gene with protein product		612426	"""chromosome 16 open reading frame 75"", ""RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)"""	C16orf75		18923083, 20826341	Standard	NM_152308		Approved	MGC24665, BLAP18	uc002daw.1	Q96E14	OTTHUMG00000129793	ENST00000312499.5:c.411G>A	16.37:g.11444614G>A						C16orf75_uc002daq.1_RNA	p.L137L	NM_152308	NP_689521	Q96E14	RMI2_HUMAN			2	429	+			137					B3KVZ6|Q49AE2|Q8TBL0	Silent	SNP	ENST00000312499.5	37	c.411G>A	CCDS10548.1																																																																																				0.438	RMI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252019.1		NM_152308		19	108	0	0	0	0.010504	0	19	108		
ITPRIPL2	162073	broad.mit.edu	37	16	19126901	19126901	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:19126901T>A	ENST00000381440.3	+	1	1648	c.1118T>A	c.(1117-1119)cTc>cAc	p.L373H	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	373						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCTGCTACCTCAAGTGCCTG	0.647																																						uc002dfu.3		NaN																	0				skin(2)	2						c.(1117-1119)CTC>CAC		inositol 1,4,5-triphosphate receptor interacting							44.0	51.0	49.0					16																	19126901		2196	4298	6494	SO:0001583	missense	162073					integral to membrane		g.chr16:19126901T>A		CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1118T>A	16.37:g.19126901T>A	ENSP00000370849:p.Leu373His					ITPRIPL2_uc002dft.2_Missense_Mutation_p.L69H	p.L373H	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN			1	1648	+			373			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000381440.3	37	c.1118T>A	CCDS32395.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159933	0.78226	.	.	ENSG00000205730	ENST00000381440	T	0.07688	3.17	5.27	5.27	0.74061	.	0.136924	0.29396	U	0.012271	T	0.27098	0.0664	M	0.71036	2.16	0.38667	D	0.952208	D	0.76494	0.999	D	0.71870	0.975	T	0.03374	-1.1043	10	0.39692	T	0.17	-14.9521	15.1888	0.73025	0.0:0.0:0.0:1.0	.	373	Q3MIP1	IPIL2_HUMAN	H	373	ENSP00000370849:L373H	ENSP00000370849:L373H	L	+	2	0	ITPRIPL2	19034402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.407000	0.73280	1.982000	0.57802	0.533000	0.62120	CTC		0.647	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3		NM_001034841		34	146	0	0	0	0.013726	0	34	146		
DNAH3	55567	broad.mit.edu	37	16	21073952	21073952	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:21073952C>T	ENST00000261383.3	-	25	3570	c.3571G>A	c.(3571-3573)Gac>Aac	p.D1191N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1191N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1191	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGGAGAGGGTCCTTTGTCTCG	0.448																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3571-3573)GAC>AAC		dynein, axonemal, heavy chain 3							72.0	69.0	70.0					16																	21073952		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21073952C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3571G>A	16.37:g.21073952C>T	ENSP00000261383:p.Asp1191Asn						p.D1191N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	25	3571	-			1191			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3571G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363782	0.95877	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62941	-0.01;-0.01	5.63	5.63	0.86233	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73688	-0.3904	10	0.35671	T	0.21	.	19.6959	0.96026	0.0:1.0:0.0:0.0	.	1191	Q8TD57	DYH3_HUMAN	N	1191	ENSP00000261383:D1191N;ENSP00000394245:D1191N	ENSP00000261383:D1191N	D	-	1	0	DNAH3	20981453	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.776000	0.85560	2.648000	0.89879	0.655000	0.94253	GAC		0.448	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		17	47	0	0	0	0.004007	0	17	47		
KDM8	79831	broad.mit.edu	37	16	27221612	27221612	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:27221612C>T	ENST00000286096.4	+	2	341	c.168C>T	c.(166-168)ttC>ttT	p.F56F	KDM8_ENST00000568965.1_Silent_p.F56F|KDM8_ENST00000380948.2_Silent_p.F56F|KDM8_ENST00000441782.2_Silent_p.F94F	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	56					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										CTGAGCTCTTCTACGAGGGCA	0.587																																						uc002doh.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(166-168)TTC>TTT		jumonji domain containing 5 isoform 2							80.0	50.0	60.0					16																	27221612		2192	4289	6481	SO:0001819	synonymous_variant	79831				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:27221612C>T	AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.168C>T	16.37:g.27221612C>T						JMJD5_uc010bxv.2_Silent_p.F56F|JMJD5_uc010vcn.1_Silent_p.F94F|JMJD5_uc010bxw.2_Silent_p.F56F	p.F56F	NM_024773	NP_079049	Q8N371	KDM8_HUMAN			2	350	+			56					B4DLU9|Q6VAK5|Q9H8B1	Silent	SNP	ENST00000286096.4	37	c.168C>T	CCDS10627.1																																																																																				0.587	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254580.3		NM_024773		12	55	0	0	0	0.013537	0	12	55		
SRCAP	10847	broad.mit.edu	37	16	30750254	30750254	+	Missense_Mutation	SNP	C	C	T	rs141497857	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:30750254C>T	ENST00000262518.4	+	34	9278	c.8893C>T	c.(8893-8895)Cgg>Tgg	p.R2965W	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2903W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R2807W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2965	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCCGAAAGTCGGACACAGCC	0.572													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17600	0.0		0.0	False		,,,				2504	0.001					uc002dze.1		NaN																	0				ovary(3)|skin(1)	4						c.(8893-8895)CGG>TGG		Snf2-related CBP activator protein		C	TRP/ARG	2,4392	4.2+/-10.8	0,2,2195	124.0	105.0	112.0		8893	5.5	1.0	16	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SRCAP	NM_006662.2	101	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	probably-damaging	2965/3231	30750254	3,12991	2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750254C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8893C>T	16.37:g.30750254C>T	ENSP00000262518:p.Arg2965Trp					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.R2760W	p.R2965W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9278	+			2965			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8893C>T	CCDS10689.2	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.217	1.032423	0.19590	4.55E-4	1.16E-4	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.96856	-4.14;-4.15;-4.15	5.48	5.48	0.80851	.	0.000000	0.42294	D	0.000727	D	0.94225	0.8146	N	0.08118	0	0.27218	N	0.959747	D;D	0.76494	0.999;0.999	P;P	0.56700	0.804;0.798	D	0.89780	0.3960	10	0.87932	D	0	-12.6548	16.3664	0.83331	0.0:1.0:0.0:0.0	.	2903;2965	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	W	2965;2903;2807	ENSP00000262518:R2965W;ENSP00000378499:R2903W;ENSP00000343042:R2807W	ENSP00000262518:R2965W	R	+	1	2	SRCAP	30657755	0.991000	0.36638	1.000000	0.80357	0.807000	0.45602	2.078000	0.41567	2.848000	0.98002	0.655000	0.94253	CGG		0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1		NM_006662		22	111	0	0	0	0.014323	0	22	111		
RNF40	9810	broad.mit.edu	37	16	30780185	30780185	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:30780185G>A	ENST00000324685.6	+	15	2559	c.2124G>A	c.(2122-2124)cgG>cgA	p.R708R	RNF40_ENST00000563683.1_Silent_p.R668R|RNF40_ENST00000357890.5_Silent_p.R608R|RNF40_ENST00000402121.3_Silent_p.R400R	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	708					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCCGCATCCGGGAATTGGAGG	0.562																																						uc002dzq.2		NaN																	0				central_nervous_system(1)	1						c.(2122-2124)CGG>CGA		ring finger protein 40							74.0	74.0	74.0					16																	30780185		2197	4300	6497	SO:0001819	synonymous_variant	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780185G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2124G>A	16.37:g.30780185G>A						RNF40_uc010caa.2_Silent_p.R708R|RNF40_uc010cab.2_Silent_p.R608R|RNF40_uc010vfa.1_Silent_p.R40R|RNF40_uc002dzr.2_Silent_p.R708R|RNF40_uc010vfb.1_Silent_p.R400R|RNF40_uc010vfc.1_Silent_p.R40R	p.R708R	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		15	2247	+			708			Potential.		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	ENST00000324685.6	37	c.2124G>A	CCDS10691.1																																																																																				0.562	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771		58	147	0	0	0	0.01441	0	58	147		
C16orf78	123970	broad.mit.edu	37	16	49433094	49433094	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:49433094G>A	ENST00000299191.3	+	5	820	c.703G>A	c.(703-705)Gat>Aat	p.D235N		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	235						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GTTGTGCAAGGATGCAGGAAT	0.478																																						uc002efr.2		NaN																	0				central_nervous_system(1)	1						c.(703-705)GAT>AAT		hypothetical protein LOC123970							145.0	117.0	127.0					16																	49433094		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49433094G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.703G>A	16.37:g.49433094G>A	ENSP00000299191:p.Asp235Asn						p.D235N	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			5	746	+			235						Missense_Mutation	SNP	ENST00000299191.3	37	c.703G>A	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553293	0.86127	.	.	ENSG00000166152	ENST00000299191	T	0.60797	0.16	5.26	5.26	0.73747	.	0.287586	0.25011	N	0.033829	T	0.72236	0.3435	M	0.63428	1.95	0.38806	D	0.95531	D	0.89917	1.0	D	0.77004	0.989	T	0.73557	-0.3945	9	.	.	.	-26.9752	14.3671	0.66812	0.0:0.0:1.0:0.0	.	235	Q8WTQ4	CP078_HUMAN	N	235	ENSP00000299191:D235N	.	D	+	1	0	C16orf78	47990595	1.000000	0.71417	0.984000	0.44739	0.879000	0.50718	4.824000	0.62701	2.444000	0.82710	0.561000	0.74099	GAT		0.478	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1		NM_144602		23	101	0	0	0	0.016522	0	23	101		
GNAO1	2775	broad.mit.edu	37	16	56362664	56362664	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:56362664A>G	ENST00000262493.6	+	4	1271	c.425A>G	c.(424-426)aAc>aGc	p.N142S	GNAO1_ENST00000262494.7_Missense_Mutation_p.N142S	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	142					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GAGTGCTTCAACCGGTCCCGG	0.602																																						uc002eit.3		NaN																	0				lung(1)|breast(1)	2						c.(424-426)AAC>AGC		guanine nucleotide binding protein, alpha							80.0	76.0	77.0					16																	56362664		2198	4300	6498	SO:0001583	missense	2775				dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr16:56362664A>G		CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.425A>G	16.37:g.56362664A>G	ENSP00000262493:p.Asn142Ser					GNAO1_uc002eiu.3_Missense_Mutation_p.N142S	p.N142S	NM_138736	NP_620073	P09471	GNAO_HUMAN			4	1322	+		all_neural(199;0.159)	142					P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	ENST00000262493.6	37	c.425A>G	CCDS10756.1	.	.	.	.	.	.	.	.	.	.	A	4.972	0.180448	0.09443	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.88431	-2.38;-2.38	4.95	4.95	0.65309	G protein alpha subunit, helical insertion (2);	0.098404	0.64402	D	0.000002	T	0.72078	0.3416	N	0.02213	-0.635	0.53005	D	0.99996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.69003	-0.5260	10	0.07030	T	0.85	.	14.6119	0.68522	1.0:0.0:0.0:0.0	.	142;142	P09471;P09471-2	GNAO_HUMAN;.	S	142	ENSP00000262493:N142S;ENSP00000262494:N142S	ENSP00000262493:N142S	N	+	2	0	GNAO1	54920165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.260000	0.51523	1.846000	0.53633	0.379000	0.24179	AAC		0.602	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256981.2		NM_020988		27	74	0	0	0	0.005443	0	27	74		
AMFR	267	broad.mit.edu	37	16	56423172	56423172	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:56423172C>T	ENST00000290649.5	-	9	1411	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	401					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ACCAAATTCTCATCCAAGTTC	0.448																																					Pancreas(2;144 323 39528)	uc002eiy.2		NaN																	0				breast(2)	2						c.(1201-1203)GAG>AAG		autocrine motility factor receptor							170.0	152.0	158.0					16																	56423172		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56423172C>T	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1201G>A	16.37:g.56423172C>T	ENSP00000290649:p.Glu401Lys					AMFR_uc002eix.2_Intron	p.E401K	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN			9	1406	-			401					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1201G>A	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226946	0.58668	.	.	ENSG00000159461	ENST00000290649	T	0.15256	2.44	5.92	5.92	0.95590	.	0.140468	0.64402	D	0.000005	T	0.15609	0.0376	L	0.43152	1.355	0.58432	D	0.999998	B	0.23058	0.079	B	0.24006	0.05	T	0.05068	-1.0908	10	0.07813	T	0.8	-26.4563	15.7716	0.78173	0.0:0.8645:0.1355:0.0	.	401	Q9UKV5	AMFR2_HUMAN	K	401	ENSP00000290649:E401K	ENSP00000290649:E401K	E	-	1	0	AMFR	54980673	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.799000	0.69101	2.810000	0.96702	0.585000	0.79938	GAG		0.448	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2				16	113	0	0	0	0.00499	0	16	113		
GPR97	222487	broad.mit.edu	37	16	57712121	57712121	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:57712121G>C	ENST00000333493.4	+	4	546	c.385G>C	c.(385-387)Gac>Cac	p.D129H	GPR97_ENST00000327655.6_5'UTR|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.D9H	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	129					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAAGCCCCCTGACAGAGTGCG	0.587																																						uc002emh.2		NaN																	0				ovary(1)	1						c.(385-387)GAC>CAC		G protein-coupled receptor 97 precursor							156.0	133.0	141.0					16																	57712121		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57712121G>C	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.385G>C	16.37:g.57712121G>C	ENSP00000332900:p.Asp129His					GPR97_uc010cdc.2_Missense_Mutation_p.D129H|GPR97_uc010vhv.1_Missense_Mutation_p.D9H|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank	p.D129H	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			4	488	+			129			Extracellular (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.385G>C	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.003084	0.35320	.	.	ENSG00000182885	ENST00000333493;ENST00000450388	T;T	0.32515	1.45;1.5	5.1	3.11	0.35812	.	0.685881	0.13574	N	0.377874	T	0.43456	0.1248	M	0.72118	2.19	0.27304	N	0.957496	D;D	0.62365	0.991;0.991	P;P	0.54401	0.685;0.751	T	0.24977	-1.0145	10	0.48119	T	0.1	.	8.2761	0.31873	0.187:0.0:0.813:0.0	.	9;129	B4DVW2;Q86Y34	.;GPR97_HUMAN	H	129;9	ENSP00000332900:D129H;ENSP00000404803:D9H	ENSP00000332900:D129H	D	+	1	0	GPR97	56269622	0.902000	0.30710	0.075000	0.20258	0.223000	0.24884	1.232000	0.32636	0.637000	0.30526	0.467000	0.42956	GAC		0.587	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2		NM_170776		26	153	0	0	0	0.00632	0	26	153		
CNGB1	1258	broad.mit.edu	37	16	57935315	57935315	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:57935315C>T	ENST00000251102.8	-	29	2977	c.2917G>A	c.(2917-2919)Gac>Aac	p.D973N	CNGB1_ENST00000564448.1_Missense_Mutation_p.D967N	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	973					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TTCAGCATGTCAAAGATCATC	0.572																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NaN																	0				breast(3)|pancreas(1)	4						c.(2917-2919)GAC>AAC		cyclic nucleotide gated channel beta 1 isoform							141.0	144.0	143.0					16																	57935315		2024	4180	6204	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57935315C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.2917G>A	16.37:g.57935315C>T	ENSP00000251102:p.Asp973Asn					CNGB1_uc010cdh.2_Missense_Mutation_p.D967N	p.D973N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			29	2982	-			973			Helical; Name=H6; (Potential).|cAMP (By similarity).		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.2917G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298997	0.95574	.	.	ENSG00000070729	ENST00000251102	D	0.96587	-4.06	5.2	5.2	0.72013	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	M	0.87269	2.87	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.971	D	0.99353	1.0915	10	0.87932	D	0	.	17.741	0.88407	0.0:1.0:0.0:0.0	.	345;973	Q14028-2;Q14028	.;CNGB1_HUMAN	N	973	ENSP00000251102:D973N	ENSP00000251102:D973N	D	-	1	0	CNGB1	56492816	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.811000	0.86092	2.430000	0.82344	0.561000	0.74099	GAC		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2		NM_001297		67	197	0	0	0	0.01441	0	67	197		
GFOD2	81577	broad.mit.edu	37	16	67709852	67709852	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:67709852T>A	ENST00000268797.7	-	3	709	c.364A>T	c.(364-366)Aac>Tac	p.N122Y	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	122					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CGCAGCACGTTCCCTACCAGG	0.572																																						uc002eub.2		NaN																	0				ovary(2)|skin(1)	3						c.(364-366)AAC>TAC		glucose-fructose oxidoreductase domain							99.0	76.0	83.0					16																	67709852		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709852T>A	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.364A>T	16.37:g.67709852T>A	ENSP00000268797:p.Asn122Tyr					GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.N17Y	p.N122Y	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	659	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	122					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.364A>T	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.990671	0.54041	.	.	ENSG00000141098	ENST00000268797	T	0.20332	2.08	5.01	5.01	0.66863	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	L	0.44542	1.39	0.80722	D	1	B	0.14805	0.011	B	0.17098	0.017	T	0.02553	-1.1142	10	0.34782	T	0.22	-35.1194	14.6786	0.69001	0.0:0.0:0.0:1.0	.	122	Q3B7J2	GFOD2_HUMAN	Y	122	ENSP00000268797:N122Y	ENSP00000268797:N122Y	N	-	1	0	GFOD2	66267353	1.000000	0.71417	0.998000	0.56505	0.847000	0.48162	8.013000	0.88655	2.007000	0.58848	0.460000	0.39030	AAC		0.572	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2		NM_030819		11	86	0	0	0	0.013537	0	11	86		
RANBP10	57610	broad.mit.edu	37	16	67768937	67768937	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:67768937G>C	ENST00000317506.3	-	6	715	c.600C>G	c.(598-600)ctC>ctG	p.L200L	RANBP10_ENST00000602887.1_5'Flank|RANBP10_ENST00000425512.2_Silent_p.L68L|RANBP10_ENST00000411657.2_Silent_p.L83L|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Silent_p.L144L|RANBP10_ENST00000602677.1_Silent_p.L200L	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	200	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGGTGGGGTAGAGGTTGGCCT	0.592																																						uc002eud.2		NaN																	0				ovary(1)	1						c.(598-600)CTC>CTG		RAN binding protein 10							49.0	46.0	47.0					16																	67768937		2198	4300	6498	SO:0001819	synonymous_variant	57610							g.chr16:67768937G>C	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.600C>G	16.37:g.67768937G>C						RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Silent_p.L144L|RANBP10_uc010vjv.1_Silent_p.L83L|RANBP10_uc010vjx.1_Silent_p.L200L|RANBP10_uc010vjy.1_Silent_p.L68L	p.L200L	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	6	716	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	200			B30.2/SPRY.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	ENST00000317506.3	37	c.600C>G	CCDS32469.1																																																																																				0.592	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1		NM_020850		12	81	0	0	0	0.013537	0	12	81		
CDH1	999	broad.mit.edu	37	16	68835746	68835746	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:68835746A>G	ENST00000261769.5	+	3	528	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	CDH1_ENST00000422392.2_Missense_Mutation_p.K113E|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	113					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GTTTTCCACCAAAGTCACGCT	0.502			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													uc002ewg.1		NaN	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	Mis|N|F|S	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	lobular breast|gastric		2	Unknown(2)		breast(2)	breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1)	243						c.(337-339)AAA>GAA		cadherin 1, type 1 preproprotein							107.0	100.0	102.0					16																	68835746		2198	4300	6498	SO:0001583	missense	999	Hereditary_Diffuse_Gastric_Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68835746A>G	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.337A>G	16.37:g.68835746A>G	ENSP00000261769:p.Lys113Glu					CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.K113E	p.K113E	NM_004360	NP_004351	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	3	461	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	113					A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.337A>G	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.746409	0.30955	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.47177	0.85;0.85	5.43	4.34	0.51931	Cadherin prodomain-like (1);Cadherin-like (1);	0.237699	0.29362	N	0.012377	T	0.35451	0.0932	L	0.50333	1.59	0.23594	N	0.997337	B;B	0.13594	0.005;0.008	B;B	0.17098	0.017;0.015	T	0.29579	-1.0007	10	0.08599	T	0.76	.	7.0537	0.25087	0.7723:0.1487:0.079:0.0	.	113;113	Q9UII8;P12830	.;CADH1_HUMAN	E	113	ENSP00000261769:K113E;ENSP00000414946:K113E	ENSP00000261769:K113E	K	+	1	0	CDH1	67393247	0.899000	0.30636	0.446000	0.26920	0.869000	0.49853	2.639000	0.46570	1.010000	0.39314	0.459000	0.35465	AAA		0.502	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2		NM_004360		14	96	0	0	0	0.007413	0	14	96		
ZNF23	7571	broad.mit.edu	37	16	71482035	71482035	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:71482035G>C	ENST00000393539.2	-	6	2706	c.1893C>G	c.(1891-1893)ctC>ctG	p.L631L	ZNF23_ENST00000357254.4_Silent_p.L631L|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Silent_p.L631L|ZNF23_ENST00000428724.2_Silent_p.L573L|ZNF23_ENST00000358700.2_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Silent_p.L573L	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GATGCTGACTGAGCTGGAAGC	0.383																																						uc002faf.2		NaN																	0					0						c.(1891-1893)CTC>CTG		zinc finger protein 23							97.0	95.0	96.0					16																	71482035		2198	4300	6498	SO:0001819	synonymous_variant	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482035G>C	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1893C>G	16.37:g.71482035G>C						ZNF23_uc002fad.2_Silent_p.L573L|ZNF23_uc002fae.2_Silent_p.L573L|ZNF23_uc010vmf.1_Silent_p.L573L|ZNF23_uc002fag.2_Silent_p.L573L|ZNF23_uc002fah.2_Silent_p.L631L|ZNF23_uc002fai.2_Silent_p.L670L	p.L631L	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	2707	-		Ovarian(137;0.00768)	631			C2H2-type 17.		Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	ENST00000393539.2	37	c.1893C>G	CCDS10900.1																																																																																				0.383	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23		NM_145911		10	102	0	0	0	0.006214	0	10	102		
ZFPM1	161882	broad.mit.edu	37	16	88598530	88598530	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:88598530C>T	ENST00000319555.3	+	7	1155	c.833C>T	c.(832-834)aCa>aTa	p.T278I	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	278					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCAGCCGCCACAGACGAGAAG	0.687																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NaN																	0				central_nervous_system(1)	1						c.(832-834)ACA>ATA		zinc finger protein, multitype 1							40.0	39.0	40.0					16																	88598530		2192	4293	6485	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88598530C>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.833C>T	16.37:g.88598530C>T	ENSP00000326630:p.Thr278Ile						p.T278I	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	866	+			278						Missense_Mutation	SNP	ENST00000319555.3	37	c.833C>T	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	c	2.777	-0.254424	0.05829	.	.	ENSG00000179588	ENST00000319555	T	0.08282	3.11	4.55	2.14	0.27477	.	0.379548	0.19619	U	0.109941	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.45469	-0.9259	10	0.15499	T	0.54	-0.0033	6.283	0.21017	0.0:0.5962:0.0:0.4038	.	278	Q8IX07	FOG1_HUMAN	I	278	ENSP00000326630:T278I	ENSP00000326630:T278I	T	+	2	0	ZFPM1	87126031	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.525000	0.22956	0.917000	0.36895	0.299000	0.19835	ACA		0.687	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2				34	50	0	0	0	0.01441	0	34	50		
FANCA	2175	broad.mit.edu	37	16	89813043	89813043	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr16:89813043G>A	ENST00000389301.3	-	35	3492	c.3462C>T	c.(3460-3462)ttC>ttT	p.F1154F	FANCA_ENST00000568369.1_Silent_p.F1154F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1154					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TGGCCAGTATGAAGTCGACCA	0.562			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1		NaN	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(3460-3462)TTC>TTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							83.0	79.0	81.0					16																	89813043		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89813043G>A	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3462C>T	16.37:g.89813043G>A						FANCA_uc010vpn.1_Silent_p.F1154F|FANCA_uc010vpo.1_Silent_p.F240F	p.F1154F	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	35	3504	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1154					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.3462C>T	CCDS32515.1																																																																																				0.562	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1				30	92	0	0	0	0.015359	0	30	92		
SLC25A11	8402	broad.mit.edu	37	17	4841336	4841336	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:4841336C>T	ENST00000225665.7	-	7	1111	c.771G>A	c.(769-771)ccG>ccA	p.P257P	RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Silent_p.P206P|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000572430.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	257					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TCTTGTATTCCGGCTTCCCAT	0.627																																					Esophageal Squamous(144;1178 2388 18010 48797)	uc002fzo.1		NaN																	0					0						c.(769-771)CCG>CCA		solute carrier family 25 member 11 isoform 1							142.0	147.0	145.0					17																	4841336		2203	4300	6503	SO:0001819	synonymous_variant	8402				gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	g.chr17:4841336C>T	X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.771G>A	17.37:g.4841336C>T						SLC25A11_uc002fzp.1_Silent_p.P253P|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank	p.P257P	NM_003562	NP_003553	Q02978	M2OM_HUMAN			7	884	-			257			Solcar 3.		F5GY65|O75537|Q969P7	Silent	SNP	ENST00000225665.7	37	c.771G>A	CCDS11059.1																																																																																				0.627	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216852.4		NM_003562		34	140	0	0	0	0.021022	0	34	140		
ZNF232	7775	broad.mit.edu	37	17	5009199	5009199	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:5009199C>G	ENST00000250076.3	-	5	1909	c.1255G>C	c.(1255-1257)Gaa>Caa	p.E419Q	ZNF232_ENST00000575898.1_Missense_Mutation_p.E410Q|ZNF232_ENST00000575538.1_5'Flank	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	392					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCCCACATTCTTTACATATA	0.443																																						uc002gas.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1174-1176)GAA>CAA		zinc finger protein 232							99.0	101.0	101.0					17																	5009199		2203	4300	6503	SO:0001583	missense	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009199C>G	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1255G>C	17.37:g.5009199C>G	ENSP00000250076:p.Glu419Gln					ZNF232_uc002gar.1_Missense_Mutation_p.E410Q|ZNF232_uc002gat.2_Missense_Mutation_p.E419Q	p.E392Q	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN			5	1928	-			392			C2H2-type 5.			Missense_Mutation	SNP	ENST00000250076.3	37	c.1174G>C	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778434	0.31502	.	.	ENSG00000167840	ENST00000250076	T	0.07800	3.16	2.98	1.98	0.26296	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.150640	0.06843	N	0.795988	T	0.05823	0.0152	N	0.16903	0.455	0.80722	D	1	B;B	0.29612	0.251;0.212	B;B	0.21151	0.033;0.019	T	0.23547	-1.0185	10	0.45353	T	0.12	.	8.5055	0.33184	0.0:0.8764:0.0:0.1236	.	392;383	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	Q	419	ENSP00000250076:E419Q	ENSP00000250076:E419Q	E	-	1	0	ZNF232	4949923	0.000000	0.05858	0.490000	0.27465	0.978000	0.69477	0.029000	0.13666	0.780000	0.33566	0.650000	0.86243	GAA		0.443	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1		NM_014519		86	49	0	0	0	0.01441	0	86	49		
C1QBP	708	broad.mit.edu	37	17	5336678	5336678	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:5336678G>C	ENST00000225698.4	-	5	715	c.634C>G	c.(634-636)Cag>Gag	p.Q212E	C1QBP_ENST00000574444.1_Missense_Mutation_p.Q108E|CTC-524C5.2_ENST00000575890.1_RNA	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	212	Interaction with MAVS.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CCAGTGGACTGAAAGCTAACT	0.468																																						uc002gby.1		NaN																	0				ovary(1)	1						c.(634-636)CAG>GAG		complement component 1, q subcomponent binding							117.0	115.0	116.0					17																	5336678		2203	4300	6503	SO:0001583	missense	708				blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane		g.chr17:5336678G>C	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.634C>G	17.37:g.5336678G>C	ENSP00000225698:p.Gln212Glu						p.Q212E	NM_001212	NP_001203	Q07021	C1QBP_HUMAN			5	712	-			212					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.634C>G	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.616991	0.66672	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	M	0.68952	2.095	0.80722	D	1	B	0.32862	0.387	B	0.35859	0.212	T	0.62267	-0.6890	9	0.31617	T	0.26	-23.6844	17.687	0.88258	0.0:0.0:1.0:0.0	.	212	Q07021	C1QBP_HUMAN	E	212	.	ENSP00000225698:Q212E	Q	-	1	0	C1QBP	5277402	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.493000	0.97960	2.655000	0.90218	0.655000	0.94253	CAG		0.468	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1		NM_001212		48	132	0	0	0	0.01441	0	48	132		
ACAP1	9744	broad.mit.edu	37	17	7250491	7250491	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:7250491G>A	ENST00000158762.3	+	14	1479	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	425	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.|Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CGACTGCCGGGAGCCAGCCCC	0.657																																						uc002ggd.2		NaN																	0				breast(2)|large_intestine(1)	3						c.(1273-1275)GAG>AAG		centaurin beta1							66.0	77.0	74.0					17																	7250491		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7250491G>A	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.1273G>A	17.37:g.7250491G>A	ENSP00000158762:p.Glu425Lys						p.E425K	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			14	1479	+			425			Arf-GAP.|C4-type.|Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.1273G>A	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103990	0.56291	.	.	ENSG00000072818	ENST00000158762	T	0.42513	0.97	4.77	4.77	0.60923	.	0.333646	0.32444	N	0.006091	T	0.43211	0.1237	N	0.17800	0.525	0.80722	D	1	D	0.71674	0.998	D	0.64506	0.926	T	0.31752	-0.9932	10	0.46703	T	0.11	.	8.8286	0.35069	0.1004:0.0:0.8996:0.0	.	425	Q15027	ACAP1_HUMAN	K	425	ENSP00000158762:E425K	ENSP00000158762:E425K	E	+	1	0	ACAP1	7191215	0.993000	0.37304	1.000000	0.80357	0.995000	0.86356	2.161000	0.42358	2.480000	0.83734	0.462000	0.41574	GAG		0.657	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4		NM_014716		20	60	0	0	0	0.01892	0	20	60		
MYH13	8735	broad.mit.edu	37	17	10216043	10216043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10216043C>A	ENST00000418404.3	-	30	4376	c.4213G>T	c.(4213-4215)Gag>Tag	p.E1405*	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E1405*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1405					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E1405*(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGTTCTCCTCTGCTTCCTGG	0.517																																						uc002gmk.1		NaN																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)	6						c.(4213-4215)GAG>TAG		myosin, heavy polypeptide 13, skeletal muscle							44.0	47.0	46.0					17																	10216043		2170	4287	6457	SO:0001587	stop_gained	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216043C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4213G>T	17.37:g.10216043C>A	ENSP00000404570:p.Glu1405*						p.E1405*	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			31	4303	-			1405			Potential.		O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	c.4213G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	44	11.068931	0.99511	.	.	ENSG00000006788	ENST00000252172	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5699	0.84608	0.0:1.0:0.0:0.0	.	.	.	.	X	1405	.	ENSP00000252172:E1405X	E	-	1	0	MYH13	10156768	1.000000	0.71417	0.979000	0.43373	0.816000	0.46133	6.088000	0.71371	2.207000	0.71202	0.462000	0.41574	GAG		0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		7	22	1	0	5.4927e-09	0.004482	7.35916e-09	7	22		
MYH13	8735	broad.mit.edu	37	17	10243492	10243492	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10243492C>G	ENST00000418404.3	-	17	2194	c.2031G>C	c.(2029-2031)ctG>ctC	p.L677L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L677L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	677	Actin-binding. {ECO:0000250}.|Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CATTGGGAATCAGACATCGTA	0.428																																						uc002gmk.1		NaN																	0				ovary(4)|skin(2)	6						c.(2029-2031)CTG>CTC		myosin, heavy polypeptide 13, skeletal muscle							98.0	98.0	98.0					17																	10243492		1921	4152	6073	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10243492C>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2031G>C	17.37:g.10243492C>G							p.L677L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			18	2121	-			677			Myosin head-like.|Actin-binding (By similarity).		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.2031G>C	CCDS45613.1																																																																																				0.428	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802		18	4	0	0	0	0.010504	0	18	4		
MYH8	4626	broad.mit.edu	37	17	10309620	10309620	+	Missense_Mutation	SNP	G	G	A	rs560062462		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10309620G>A	ENST00000403437.2	-	20	2360	c.2266C>T	c.(2266-2268)Cat>Tat	p.H756Y	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	756	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TATTGAGTATGATCAATATCA	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NaN																	0				skin(6)|ovary(3)|breast(2)	11						c.(2266-2268)CAT>TAT		myosin, heavy chain 8, skeletal muscle,							90.0	90.0	90.0					17																	10309620		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10309620G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2266C>T	17.37:g.10309620G>A	ENSP00000384330:p.His756Tyr					uc002gml.1_Intron	p.H756Y	NM_002472	NP_002463	P13535	MYH8_HUMAN			20	2361	-			756			Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2266C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797447	0.70567	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.71698	-0.59	5.22	5.22	0.72569	Myosin head, motor domain (2);	0.000000	0.43919	U	0.000503	D	0.83505	0.5269	M	0.91196	3.185	0.53005	D	0.999967	P	0.42973	0.796	P	0.48738	0.588	D	0.87174	0.2223	10	0.87932	D	0	.	18.9728	0.92722	0.0:0.0:1.0:0.0	.	756	P13535	MYH8_HUMAN	Y	756	ENSP00000384330:H756Y	ENSP00000252173:H756Y	H	-	1	0	MYH8	10250345	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.620000	0.83070	2.732000	0.93576	0.650000	0.86243	CAT		0.378	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2		NM_002472		10	15	0	0	0	0.006214	0	10	15		
MYH1	4619	broad.mit.edu	37	17	10395785	10395785	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:10395785T>G	ENST00000226207.5	-	40	5862	c.5768A>C	c.(5767-5769)aAg>aCg	p.K1923T	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1923					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACCCTCAGCTTGTTGACCTG	0.478																																						uc002gmo.2		NaN																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5767-5769)AAG>ACG		myosin, heavy chain 1, skeletal muscle, adult							199.0	182.0	188.0					17																	10395785		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10395785T>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5768A>C	17.37:g.10395785T>G	ENSP00000226207:p.Lys1923Thr					uc002gml.1_Intron	p.K1923T	NM_005963	NP_005954	P12882	MYH1_HUMAN			40	5862	-			1923			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5768A>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420552	0.83559	.	.	ENSG00000109061	ENST00000226207	T	0.79454	-1.27	4.63	4.63	0.57726	Myosin tail (1);	0.000000	0.41823	U	0.000806	D	0.89643	0.6774	M	0.90870	3.155	0.54753	D	0.99998	D	0.71674	0.998	D	0.71414	0.973	D	0.91877	0.5512	10	0.66056	D	0.02	.	14.4776	0.67557	0.0:0.0:0.0:1.0	.	1923	P12882	MYH1_HUMAN	T	1923	ENSP00000226207:K1923T	ENSP00000226207:K1923T	K	-	2	0	MYH1	10336510	1.000000	0.71417	0.993000	0.49108	0.920000	0.55202	7.783000	0.85696	2.058000	0.61347	0.533000	0.62120	AAG		0.478	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1		NM_005963		29	72	0	0	0	0.009535	0	29	72		
ATPAF2	91647	broad.mit.edu	37	17	17924527	17924527	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:17924527G>C	ENST00000474627.3	-	7	796	c.642C>G	c.(640-642)ctC>ctG	p.L214L	ATPAF2_ENST00000585101.1_Intron|ATPAF2_ENST00000469327.1_5'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	214					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CCATGGACTTGAGCTGGGCAG	0.592																																						uc002gse.1		NaN																	0					0						c.(640-642)CTC>CTG		ATP synthase mitochondrial F1 complex assembly							53.0	40.0	44.0					17																	17924527		2203	4300	6503	SO:0001819	synonymous_variant	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17924527G>C	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.642C>G	17.37:g.17924527G>C						ATPAF2_uc002gsd.1_RNA|ATPAF2_uc002gsf.1_RNA	p.L214L	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN			7	795	-	all_neural(463;0.228)		214					A6NDE5|A8K2J2|Q6XYC7	Silent	SNP	ENST00000474627.3	37	c.642C>G	CCDS32585.1																																																																																				0.592	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3		NM_145691		10	42	0	0	0	0.013537	0	10	42		
MYO15A	51168	broad.mit.edu	37	17	18042859	18042859	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:18042859C>T	ENST00000205890.5	+	19	5483	c.5145C>T	c.(5143-5145)ttC>ttT	p.F1715F	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1715	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCACAAGTTCCTGGACAAGA	0.592																																						uc010vxh.1		NaN																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(5143-5145)TTC>TTT		myosin XV							70.0	78.0	75.0					17																	18042859		2056	4201	6257	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18042859C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5145C>T	17.37:g.18042859C>T							p.F1715F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			18	5483	+	all_neural(463;0.228)		1715			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.5145C>T	CCDS42271.1																																																																																				0.592	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1		NM_016239		47	25	0	0	0	0.01441	0	47	25		
SLC47A2	146802	broad.mit.edu	37	17	19608794	19608794	+	Silent	SNP	G	G	C	rs368229952		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:19608794G>C	ENST00000325411.5	-	10	1022	c.972C>G	c.(970-972)ctC>ctG	p.L324L	SLC47A2_ENST00000350657.5_Silent_p.L288L|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	324					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CCTGGGCAGAGAGATCCACCA	0.647																																						uc002gwe.3		NaN																	0					0						c.(970-972)CTC>CTG		solute carrier family 47, member 2 isoform 1		G	,	1,4405	2.1+/-5.4	0,1,2202	57.0	49.0	52.0		864,972	1.5	0.5	17		52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SLC47A2	NM_001099646.1,NM_152908.3	,	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	,	288/567,324/603	19608794	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19608794G>C	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.972C>G	17.37:g.19608794G>C						SLC47A2_uc002gwg.3_Silent_p.L288L|SLC47A2_uc002gwf.3_Silent_p.L288L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	p.L324L	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN			10	1147	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		324			Extracellular (Potential).		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	c.972C>G	CCDS11211.1																																																																																				0.647	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2		NM_152908		5	23	0	0	0	0.014758	0	5	23		
ALDH3A1	218	broad.mit.edu	37	17	19646659	19646659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:19646659G>A	ENST00000457500.2	-	2	609	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000225740.6_Nonsense_Mutation_p.Q94*|ALDH3A1_ENST00000395555.3_Nonsense_Mutation_p.Q94*|ALDH3A1_ENST00000444455.1_Nonsense_Mutation_p.Q94*|ALDH3A1_ENST00000494157.2_Nonsense_Mutation_p.Q21*	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	94					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TCGTCCTGCTGAGTCTGGGGC	0.602																																						uc010cqu.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(280-282)CAG>TAG		aldehyde dehydrogenase 3A1	NADH(DB00157)						128.0	112.0	117.0					17																	19646659		2203	4300	6503	SO:0001587	stop_gained	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19646659G>A	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.280C>T	17.37:g.19646659G>A	ENSP00000411821:p.Gln94*					ALDH3A1_uc010vzd.1_Nonsense_Mutation_p.Q94*|ALDH3A1_uc002gwj.2_Nonsense_Mutation_p.Q94*|ALDH3A1_uc010cqv.2_Nonsense_Mutation_p.Q94*|ALDH3A1_uc002gwk.2_Silent_p.L10L|ALDH3A1_uc002gwl.1_Nonsense_Mutation_p.Q21*	p.Q94*	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	2	610	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		94					A8K828|Q9BT37	Nonsense_Mutation	SNP	ENST00000457500.2	37	c.280C>T	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367556	0.82463	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	.	.	.	4.82	1.49	0.22878	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-10.2613	4.0632	0.09847	0.0921:0.1127:0.5348:0.2604	.	.	.	.	X	94;94;152;94;94;21;94;94	.	ENSP00000225740:Q94X	Q	-	1	0	ALDH3A1	19587251	0.000000	0.05858	0.996000	0.52242	0.859000	0.49053	-0.048000	0.11944	1.027000	0.39758	0.655000	0.94253	CAG		0.602	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4		NM_000691		26	161	0	0	0	0.021523	0	26	161		
SSH2	85464	broad.mit.edu	37	17	27998974	27998974	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27998974G>C	ENST00000269033.3	-	8	858	c.707C>G	c.(706-708)tCt>tGt	p.S236C	SSH2_ENST00000540801.1_Missense_Mutation_p.S263C|SSH2_ENST00000324677.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	236					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGAGCTGGAGAGTCGGGCCG	0.448																																						uc002heo.1		NaN																	0				skin(2)	2						c.(706-708)TCT>TGT		slingshot 2							188.0	162.0	171.0					17																	27998974		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27998974G>C	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.707C>G	17.37:g.27998974G>C	ENSP00000269033:p.Ser236Cys					SSH2_uc010wbh.1_Missense_Mutation_p.S263C|SSH2_uc002hep.1_Missense_Mutation_p.S236C	p.S236C	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			8	707	-			236					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.707C>G	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962270	0.74016	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.37411	1.2;1.2	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.63843	1.955	0.80722	D	1	B;B;B	0.26120	0.142;0.051;0.036	B;B;B	0.28916	0.096;0.094;0.066	T	0.37549	-0.9701	10	0.72032	D	0.01	-10.941	19.7592	0.96308	0.0:0.0:1.0:0.0	.	263;236;236	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	C	236;263;236	ENSP00000269033:S236C;ENSP00000444743:S263C	ENSP00000269033:S236C	S	-	2	0	SSH2	25023100	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.847000	0.99503	2.664000	0.90586	0.514000	0.50259	TCT		0.448	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389		8	201	0	0	0	0.00499	0	8	201		
SSH2	85464	broad.mit.edu	37	17	27998987	27998987	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27998987G>T	ENST00000269033.3	-	8	845	c.694C>A	c.(694-696)Cac>Aac	p.H232N	SSH2_ENST00000540801.1_Missense_Mutation_p.H259N|SSH2_ENST00000324677.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	232					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCGGGCCGGTGGGACTGTACA	0.448																																						uc002heo.1		NaN																	0				skin(2)	2						c.(694-696)CAC>AAC		slingshot 2							222.0	186.0	198.0					17																	27998987		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27998987G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.694C>A	17.37:g.27998987G>T	ENSP00000269033:p.His232Asn					SSH2_uc010wbh.1_Missense_Mutation_p.H259N|SSH2_uc002hep.1_Missense_Mutation_p.H232N	p.H232N	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			8	694	-			232					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.694C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.378998	0.61735	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.37915	1.17;1.17	5.67	5.67	0.87782	.	0.047971	0.85682	D	0.000000	T	0.40398	0.1115	L	0.51422	1.61	0.80722	D	1	B;B;B	0.26876	0.162;0.062;0.042	B;B;B	0.31614	0.091;0.133;0.042	T	0.15464	-1.0436	10	0.42905	T	0.14	-12.3294	19.7592	0.96308	0.0:0.0:1.0:0.0	.	259;232;232	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	N	232;259;232	ENSP00000269033:H232N;ENSP00000444743:H259N	ENSP00000269033:H232N	H	-	1	0	SSH2	25023113	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.629000	0.61290	2.664000	0.90586	0.514000	0.50259	CAC		0.448	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389		11	205	1	0	1.87028e-06	0.012319	2.46985e-06	11	205		
SSH2	85464	broad.mit.edu	37	17	27999021	27999021	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27999021G>A	ENST00000269033.3	-	8	811	c.660C>T	c.(658-660)gtC>gtT	p.V220V	SSH2_ENST00000540801.1_Silent_p.V247V|SSH2_ENST00000324677.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	220					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCATTCATTGACTGAGGATT	0.468																																						uc002heo.1		NaN																	0				skin(2)	2						c.(658-660)GTC>GTT		slingshot 2							241.0	200.0	213.0					17																	27999021		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27999021G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.660C>T	17.37:g.27999021G>A						SSH2_uc010wbh.1_Silent_p.V247V|SSH2_uc002hep.1_Silent_p.V220V	p.V220V	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			8	660	-			220					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.660C>T	CCDS11253.1																																																																																				0.468	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389		10	187	0	0	0	0.013537	0	10	187		
SSH2	85464	broad.mit.edu	37	17	27999025	27999025	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:27999025G>A	ENST00000269033.3	-	8	807	c.656C>T	c.(655-657)tCa>tTa	p.S219L	SSH2_ENST00000540801.1_Missense_Mutation_p.S246L|SSH2_ENST00000324677.7_5'Flank|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	219					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCATTGACTGAGGATTGATC	0.468																																						uc002heo.1		NaN																	0				skin(2)	2						c.(655-657)TCA>TTA		slingshot 2							238.0	198.0	211.0					17																	27999025		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27999025G>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.656C>T	17.37:g.27999025G>A	ENSP00000269033:p.Ser219Leu					SSH2_uc010wbh.1_Missense_Mutation_p.S246L|SSH2_uc002hep.1_Missense_Mutation_p.S219L	p.S219L	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			8	656	-			219					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.656C>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021748	0.75275	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.49720	0.77;0.77	5.67	5.67	0.87782	.	0.203424	0.44483	D	0.000445	T	0.44456	0.1294	L	0.29908	0.895	0.80722	D	1	B;B;B	0.22480	0.051;0.039;0.07	B;B;B	0.30251	0.113;0.062;0.082	T	0.35351	-0.9792	10	0.62326	D	0.03	-10.4856	19.7592	0.96308	0.0:0.0:1.0:0.0	.	246;219;219	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	L	219;246;219	ENSP00000269033:S219L;ENSP00000444743:S246L	ENSP00000269033:S219L	S	-	2	0	SSH2	25023151	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.013000	0.64023	2.664000	0.90586	0.514000	0.50259	TCA		0.468	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389		10	194	0	0	0	0.013537	0	10	194		
CDK5R1	8851	broad.mit.edu	37	17	30814982	30814982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:30814982C>A	ENST00000313401.3	+	2	1033	c.344C>A	c.(343-345)tCg>tAg	p.S115*		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	115					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGCCAGCTCTCGGGTTCCCAG	0.672																																						uc002hhn.2		NaN																	0				ovary(1)	1						c.(343-345)TCG>TAG		cyclin-dependent kinase 5, regulatory subunit 1							39.0	49.0	45.0					17																	30814982		2203	4300	6503	SO:0001587	stop_gained	8851				axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	g.chr17:30814982C>A	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.344C>A	17.37:g.30814982C>A	ENSP00000318486:p.Ser115*					CDK5R1_uc010wca.1_Nonsense_Mutation_p.S115*|CDK5R1_uc010ctc.2_5'UTR	p.S115*	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0938)		2	565	+		Breast(31;0.159)|Ovarian(249;0.182)	115					E1P664|Q5U0G3	Nonsense_Mutation	SNP	ENST00000313401.3	37	c.344C>A	CCDS11273.1	.	.	.	.	.	.	.	.	.	.	C	43	9.954345	0.99304	.	.	ENSG00000176749	ENST00000313401	.	.	.	5.02	5.02	0.67125	.	0.395311	0.23587	N	0.046600	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5592	15.8847	0.79238	0.0:1.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000318486:S115X	S	+	2	0	CDK5R1	27839095	0.994000	0.37717	0.996000	0.52242	0.982000	0.71751	4.139000	0.58024	2.609000	0.88269	0.557000	0.71058	TCG		0.672	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256264.1		NM_003885		76	164	1	0	4.75426e-39	0.01441	6.74062e-39	76	164		
TMEM132E	124842	broad.mit.edu	37	17	32954018	32954018	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:32954018T>G	ENST00000321639.5	+	3	998	c.670T>G	c.(670-672)Tat>Gat	p.Y224D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	224						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)		CATCCTCCTCTATCTGGCCCC	0.632																																						uc002hif.2		NaN																	0				central_nervous_system(1)	1						c.(670-672)TAT>GAT		transmembrane protein 132E precursor							68.0	66.0	67.0					17																	32954018		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32954018T>G	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.670T>G	17.37:g.32954018T>G	ENSP00000316532:p.Tyr224Asp						p.Y224D	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	3	998	+			224			Extracellular (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.670T>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.400214	0.42613	.	.	ENSG00000181291	ENST00000321639	T	0.20881	2.04	5.35	5.35	0.76521	.	0.247838	0.41712	D	0.000831	T	0.32376	0.0827	L	0.54323	1.7	0.45318	D	0.998311	D	0.60160	0.987	P	0.52217	0.693	T	0.03807	-1.1002	10	0.52906	T	0.07	-23.7388	14.5134	0.67804	0.0:0.0:0.0:1.0	.	224	Q6IEE7	T132E_HUMAN	D	224	ENSP00000316532:Y224D	ENSP00000316532:Y224D	Y	+	1	0	TMEM132E	29978131	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	3.990000	0.56965	2.010000	0.58986	0.363000	0.22086	TAT		0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2		NM_207313		20	134	0	0	0	0.014323	0	20	134		
DHRS11	79154	broad.mit.edu	37	17	34951498	34951498	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:34951498C>T	ENST00000251312.5	+	2	457	c.245C>T	c.(244-246)tCa>tTa	p.S82L	DHRS11_ENST00000590554.1_Missense_Mutation_p.S3L|DHRS11_ENST00000394445.1_3'UTR	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	82						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						TCCATGTTCTCAGCTATCCGT	0.542																																						uc002hnd.2		NaN																	0					0						c.(244-246)TCA>TTA		short-chain dehydrogenase/reductase precursor							151.0	129.0	136.0					17																	34951498		2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34951498C>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.245C>T	17.37:g.34951498C>T	ENSP00000251312:p.Ser82Leu						p.S82L	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN			2	459	+			82					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.245C>T	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	33	5.249150	0.95305	.	.	ENSG00000108272	ENST00000251312;ENST00000394445	D	0.87966	-2.32	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83243	0.5212	L	0.38953	1.18	0.58432	D	0.999992	B	0.32302	0.363	B	0.30495	0.116	T	0.80450	-0.1377	10	0.40728	T	0.16	-19.3728	19.412	0.94677	0.0:1.0:0.0:0.0	.	82	Q6UWP2	DHR11_HUMAN	L	82	ENSP00000251312:S82L	ENSP00000251312:S82L	S	+	2	0	DHRS11	32025611	1.000000	0.71417	0.910000	0.35882	0.993000	0.82548	5.583000	0.67484	2.828000	0.97474	0.655000	0.94253	TCA		0.542	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2		NM_024308		96	118	0	0	0	0.01441	0	96	118		
ORMDL3	94103	broad.mit.edu	37	17	38080454	38080454	+	Start_Codon_SNP	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:38080454C>T	ENST00000394169.1	-	4	1497	c.3G>A	c.(1-3)atG>atA	p.M1I	ORMDL3_ENST00000582052.1_5'Flank|ORMDL3_ENST00000584220.1_Start_Codon_SNP_p.M1I|ORMDL3_ENST00000304046.2_Start_Codon_SNP_p.M1I|ORMDL3_ENST00000579695.1_Start_Codon_SNP_p.M1I			Q8N138	ORML3_HUMAN	ORMDL sphingolipid biosynthesis regulator 3	1					ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|SPOTS complex (GO:0035339)				endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			TGCCCACATTCATCCTGCTGC	0.617																																						uc002htj.1		NaN																	0					0						c.(1-3)ATG>ATA		ORM1-like 3							172.0	136.0	148.0					17																	38080454		2203	4300	6503	SO:0001582	initiator_codon_variant	94103				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding	g.chr17:38080454C>T		CCDS11355.1	17q12	2014-06-16	2014-06-16		ENSG00000172057	ENSG00000172057			16038	protein-coding gene	gene with protein product		610075	"""ORM1 (S. cerevisiae)-like 3"", ""ORM1-like 3 (S. cerevisiae)"""			23066021	Standard	NM_139280		Approved		uc002htj.2	Q8N138	OTTHUMG00000133249	ENST00000394169.1:c.3G>A	17.37:g.38080454C>T	ENSP00000377724:p.Met1Ile					ORMDL3_uc002hti.1_RNA|ORMDL3_uc002htk.1_Missense_Mutation_p.M1I	p.M1I	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Lung(15;0.0234)		2	143	-	Colorectal(19;0.000442)		1			Cytoplasmic (Potential).		B3KS83|Q6UY83	Missense_Mutation	SNP	ENST00000394169.1	37	c.3G>A	CCDS11355.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610142	0.87258	.	.	ENSG00000172057	ENST00000304046;ENST00000394169	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	.	.	.	0.80722	D	1	B	0.23316	0.083	B	0.17979	0.02	T	0.56763	-0.7925	8	0.72032	D	0.01	-37.3498	20.428	0.99075	0.0:1.0:0.0:0.0	.	1	Q8N138	ORML3_HUMAN	I	1	.	ENSP00000304858:M1I	M	-	3	0	ORMDL3	35333980	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.818000	0.86416	2.837000	0.97791	0.655000	0.94253	ATG		0.617	ORMDL3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257003.1		NM_139280	Missense_Mutation	15	119	0	0	0	0.004007	0	15	119		
PSMD3	5709	broad.mit.edu	37	17	38151529	38151529	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:38151529G>A	ENST00000264639.4	+	8	1371	c.1197G>A	c.(1195-1197)cgG>cgA	p.R399R	PSMD3_ENST00000541736.1_Silent_p.R261R	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	399	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCGGCTGCGGCACAACGTGA	0.537																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1195-1197)CGG>CGA		proteasome 26S non-ATPase subunit 3							151.0	146.0	148.0					17																	38151529		2203	4300	6503	SO:0001819	synonymous_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38151529G>A	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1197G>A	17.37:g.38151529G>A						PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.R300R	p.R399R	NM_002809	NP_002800	O43242	PSMD3_HUMAN			8	1361	+	Colorectal(19;0.000442)		399			PCI.		B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	c.1197G>A	CCDS11356.1																																																																																				0.537	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1		NM_002809		42	259	0	0	0	0.011902	0	42	259		
KRT12	3859	broad.mit.edu	37	17	39019991	39019991	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39019991C>T	ENST00000251643.4	-	4	956	c.933G>A	c.(931-933)caG>caA	p.Q311Q	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	311	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CCTTCCGATTCTGCTCAGCGA	0.547																																						uc002hvk.2		NaN																	0				ovary(1)	1						c.(931-933)CAG>CAA		keratin 12							66.0	69.0	68.0					17																	39019991		2203	4300	6503	SO:0001819	synonymous_variant	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019991C>T		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.933G>A	17.37:g.39019991C>T							p.Q311Q	NM_000223	NP_000214	Q99456	K1C12_HUMAN			4	957	-		Breast(137;0.000301)	311			Rod.|Coil 2.		B2R9E0	Silent	SNP	ENST00000251643.4	37	c.933G>A	CCDS11378.1																																																																																				0.547	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2		NM_000223		63	33	0	0	0	0.01441	0	63	33		
KRT38	8687	broad.mit.edu	37	17	39594846	39594846	+	Missense_Mutation	SNP	T	T	G	rs143250758	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39594846T>G	ENST00000246646.3	-	5	916	c.917A>C	c.(916-918)gAc>gCc	p.D306A		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	306	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCAGGACATGTCCTGCAGGCT	0.632													T|||	8	0.00159744	0.0008	0.0	5008	,	,		18948	0.001		0.001	False		,,,				2504	0.0051					uc002hwq.1		NaN																	0				skin(2)	2						c.(916-918)GAC>GCC		keratin 38		T	ALA/ASP	8,4398		0,8,2195	125.0	99.0	108.0		917	-7.0	0.0	17	dbSNP_134	108	4,8596		0,4,4296	no	missense	KRT38	NM_006771.3	126	0,12,6491	GG,GT,TT		0.0465,0.1816,0.0923	benign	306/457	39594846	12,12994	2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39594846T>G	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.917A>C	17.37:g.39594846T>G	ENSP00000246646:p.Asp306Ala						p.D306A	NM_006771	NP_006762	O76015	KRT38_HUMAN			5	1340	-		Breast(137;0.000496)	306			Coil 2.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.917A>C	CCDS11392.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	.	14.67	2.603389	0.46423	0.001816	4.65E-4	ENSG00000171360	ENST00000246646	D	0.86497	-2.13	4.24	-7.01	0.01594	Filament (1);	0.714843	0.11979	N	0.510971	T	0.49575	0.1565	N	0.00150	-1.985	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.56438	-0.7979	10	0.46703	T	0.11	.	4.7028	0.12835	0.4199:0.0:0.2388:0.3413	.	306	O76015	KRT38_HUMAN	A	306	ENSP00000246646:D306A	ENSP00000246646:D306A	D	-	2	0	KRT38	36848372	0.002000	0.14202	0.018000	0.16275	0.928000	0.56348	0.084000	0.14891	-1.074000	0.03132	-0.995000	0.02519	GAC		0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2		NM_006771		20	136	0	0	0	0.014323	0	20	136		
KRT36	8689	broad.mit.edu	37	17	39645947	39645947	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:39645947G>C	ENST00000328119.6	-	1	169	c.170C>G	c.(169-171)tCt>tGt	p.S57C	KRT36_ENST00000393986.2_Missense_Mutation_p.S7C	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	57	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCCAAGGCCAGAGAGGCCCGA	0.637																																						uc002hwt.2		NaN																	0					0						c.(169-171)TCT>TGT		keratin 36							66.0	72.0	70.0					17																	39645947		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39645947G>C	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.170C>G	17.37:g.39645947G>C	ENSP00000329165:p.Ser57Cys						p.S57C	NM_003771	NP_003762	O76013	KRT36_HUMAN			1	170	-		Breast(137;0.000286)	57			Head.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.170C>G	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	G	0.051	-1.250704	0.01469	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.82984	-1.67;-1.54	4.9	2.77	0.32553	.	0.000000	0.36409	N	0.002620	T	0.65396	0.2687	N	0.12887	0.27	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.51631	-0.8681	10	0.23891	T	0.37	.	9.5807	0.39486	0.0842:0.3482:0.5675:0.0	.	57	O76013	KRT36_HUMAN	C	7;57	ENSP00000377555:S7C;ENSP00000329165:S57C	ENSP00000329165:S57C	S	-	2	0	KRT36	36899473	0.700000	0.27796	0.523000	0.27875	0.005000	0.04900	0.945000	0.29056	1.254000	0.44035	0.563000	0.77884	TCT		0.637	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1		NM_003771		104	53	0	0	0	0.01441	0	104	53		
UBTF	7343	broad.mit.edu	37	17	42290269	42290269	+	Nonsense_Mutation	SNP	G	G	T	rs532196673		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:42290269G>T	ENST00000302904.4	-	7	1070	c.578C>A	c.(577-579)tCg>tAg	p.S193*	UBTF_ENST00000436088.1_Nonsense_Mutation_p.S193*|UBTF_ENST00000529383.1_Nonsense_Mutation_p.S193*|UBTF_ENST00000526094.1_Nonsense_Mutation_p.S193*|UBTF_ENST00000393606.3_Nonsense_Mutation_p.S193*|UBTF_ENST00000343638.5_Nonsense_Mutation_p.S193*|UBTF_ENST00000537550.1_5'Flank|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Nonsense_Mutation_p.S193*|UBTF_ENST00000527034.1_Nonsense_Mutation_p.S193*			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	193					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGGATGTCCGATTTCTTGGC	0.587																																						uc002igb.2		NaN																	0					0						c.(577-579)TCG>TAG		upstream binding transcription factor, RNA							173.0	166.0	168.0					17																	42290269		2203	4300	6503	SO:0001587	stop_gained	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42290269G>T	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.578C>A	17.37:g.42290269G>T	ENSP00000302640:p.Ser193*					UBTF_uc002igc.2_Nonsense_Mutation_p.S193*|UBTF_uc010czs.2_Nonsense_Mutation_p.S193*|UBTF_uc002igd.2_Nonsense_Mutation_p.S193*|UBTF_uc010czt.2_Nonsense_Mutation_p.S193*|UBTF_uc002ige.2_Nonsense_Mutation_p.S193*	p.S193*	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	6	645	-		Breast(137;0.00765)|Prostate(33;0.0181)	193					A8K6R8	Nonsense_Mutation	SNP	ENST00000302904.4	37	c.578C>A	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	39	7.316560	0.98207	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0096	13.1426	0.59442	0.0:0.0:0.8394:0.1606	.	.	.	.	X	193	.	ENSP00000302640:S193X	S	-	2	0	UBTF	39645795	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.273000	0.72581	2.753000	0.94483	0.650000	0.86243	TCG		0.587	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1		NM_014233		13	346	1	0	1.3612e-06	0.003163	1.80044e-06	13	346		
NMT1	4836	broad.mit.edu	37	17	43138785	43138785	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:43138785T>C	ENST00000592782.1	+	2	219	c.88T>C	c.(88-90)Tgc>Cgc	p.C30R	DCAKD_ENST00000342350.5_5'Flank|NMT1_ENST00000258960.2_Missense_Mutation_p.C30R|DCAKD_ENST00000310604.4_5'Flank|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	30					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CCATGAGCACTGCAGCGATTG	0.602																																						uc002ihz.2		NaN																	0					0						c.(88-90)TGC>CGC		N-myristoyltransferase 1							80.0	65.0	70.0					17																	43138785		2203	4300	6503	SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43138785T>C		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.88T>C	17.37:g.43138785T>C	ENSP00000468424:p.Cys30Arg					DCAKD_uc010dab.1_5'Flank|NMT1_uc010dac.1_RNA|NMT1_uc002iia.2_RNA	p.C30R	NM_021079	NP_066565	P30419	NMT1_HUMAN			1	106	+		Prostate(33;0.155)	30					A8K7C1|Q9UE09	Missense_Mutation	SNP	ENST00000592782.1	37	c.88T>C	CCDS11494.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537066	0.65085	.	.	ENSG00000136448	ENST00000258960;ENST00000543908	T;T	0.56275	0.67;0.47	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.58101	1.795	0.80722	D	1	P	0.39665	0.682	B	0.30943	0.122	T	0.55736	-0.8094	10	0.72032	D	0.01	-16.8595	16.0678	0.80897	0.0:0.0:0.0:1.0	.	30	P30419	NMT1_HUMAN	R	30	ENSP00000258960:C30R;ENSP00000439263:C30R	ENSP00000258960:C30R	C	+	1	0	NMT1	40494311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.049000	0.64244	2.281000	0.76405	0.533000	0.62120	TGC		0.602	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1		NM_021079		58	16	0	0	0	0.01441	0	58	16		
TMEM100	55273	broad.mit.edu	37	17	53798395	53798395	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:53798395G>A	ENST00000575734.1	-	4	845	c.37C>T	c.(37-39)Cca>Tca	p.P13S	TMEM100_ENST00000570586.1_5'Flank|TMEM100_ENST00000424486.2_Missense_Mutation_p.P13S	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	13					angiogenesis (GO:0001525)|arterial endothelial cell differentiation (GO:0060842)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of vasculogenesis (GO:2001214)|protein kinase B signaling (GO:0043491)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TGAGCCTTTGGGGCTCCCAGG	0.507																																						uc002iuj.3		NaN																	0					0						c.(37-39)CCA>TCA		transmembrane protein 100							113.0	111.0	111.0					17																	53798395		2203	4300	6503	SO:0001583	missense	55273					integral to membrane		g.chr17:53798395G>A	AK001832	CCDS11587.1	17q23.1	2005-12-16				ENSG00000166292			25607	protein-coding gene	gene with protein product							Standard	NM_018286		Approved	FLJ10970, FLJ37856	uc002iuj.4	Q9NV29		ENST00000575734.1:c.37C>T	17.37:g.53798395G>A	ENSP00000465638:p.Pro13Ser					TMEM100_uc002iuk.3_Missense_Mutation_p.P13S	p.P13S	NM_018286	NP_060756	Q9NV29	TM100_HUMAN			2	348	-			13					D3DTY7|I3L214|Q96FZ0	Missense_Mutation	SNP	ENST00000575734.1	37	c.37C>T	CCDS11587.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266304	0.80358	.	.	ENSG00000166292	ENST00000299377;ENST00000424486	.	.	.	5.91	4.93	0.64822	.	0.100613	0.64402	D	0.000001	T	0.42177	0.1191	L	0.34521	1.04	0.58432	D	0.999997	P	0.42692	0.787	B	0.36666	0.23	T	0.41161	-0.9524	9	0.49607	T	0.09	.	15.6087	0.76696	0.0:0.0:0.8616:0.1384	.	13	Q9NV29	TM100_HUMAN	S	13	.	ENSP00000299377:P13S	P	-	1	0	TMEM100	51153394	1.000000	0.71417	0.966000	0.40874	0.878000	0.50629	4.834000	0.62774	1.483000	0.48342	0.655000	0.94253	CCA		0.507	TMEM100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439266.2		NM_018286		25	159	0	0	0	0.004656	0	25	159		
DDX42	11325	broad.mit.edu	37	17	61895172	61895172	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:61895172C>T	ENST00000578681.1	+	19	2832	c.2231C>T	c.(2230-2232)tCa>tTa	p.S744L	DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.S744L|DDX42_ENST00000359353.5_Missense_Mutation_p.S625L|DDX42_ENST00000457800.2_Missense_Mutation_p.S744L|DDX42_ENST00000389924.2_Missense_Mutation_p.S744L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	744	Necessary for interaction with TP53BP2.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCAACTAACTCAGCACAACAG	0.542																																						uc002jbu.2		NaN																	0				ovary(2)|skin(2)|large_intestine(1)	5						c.(2230-2232)TCA>TTA		DEAD box polypeptide 42 protein							106.0	94.0	98.0					17																	61895172		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61895172C>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.2231C>T	17.37:g.61895172C>T	ENSP00000464050:p.Ser744Leu					DDX42_uc002jbv.2_Missense_Mutation_p.S744L|DDX42_uc002jbx.2_Missense_Mutation_p.S480L|DDX42_uc002jby.2_Missense_Mutation_p.S290L|DDX42_uc010wps.1_Missense_Mutation_p.S112L	p.S744L	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN			19	2488	+			744			Necessary for interaction with TP53BP2.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2231C>T	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103571	0.56291	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.08984	3.03;3.03	5.17	4.18	0.49190	.	1.655680	0.02893	N	0.134466	T	0.07908	0.0198	L	0.29908	0.895	0.46317	D	0.998983	P;B	0.44734	0.842;0.001	B;B	0.34536	0.185;0.001	T	0.46843	-0.9162	10	0.20046	T	0.44	-8.6462	13.3913	0.60825	0.0:0.9223:0.0:0.0777	.	290;744	B3KV84;Q86XP3	.;DDX42_HUMAN	L	744;744;461	ENSP00000374574:S744L;ENSP00000390121:S744L	ENSP00000352308:S461L	S	+	2	0	DDX42	59248904	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.342000	0.52159	2.686000	0.91538	0.462000	0.41574	TCA		0.542	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1		NM_007372		86	43	0	0	0	0.01441	0	86	43		
GGA3	23163	broad.mit.edu	37	17	73242646	73242646	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:73242646G>T	ENST00000245541.6	-	3	361	c.145C>A	c.(145-147)Ctg>Atg	p.L49M	GGA3_ENST00000582717.1_De_novo_Start_InFrame|GGA3_ENST00000579743.1_5'UTR|GGA3_ENST00000537686.1_Missense_Mutation_p.L49M|GGA3_ENST00000582486.1_De_novo_Start_InFrame|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000578348.1_De_novo_Start_InFrame|GGA3_ENST00000351904.7_Missense_Mutation_p.L49M	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	49	Binds to ARF1 (in long isoform).|VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				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)			TGGGCCAGCAGTCGGACGGCG	0.637																																						uc002jni.1		NaN																	0				ovary(1)|breast(1)	2						c.(145-147)CTG>ATG		ADP-ribosylation factor binding protein 3							79.0	66.0	71.0					17																	73242646		2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73242646G>T	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.145C>A	17.37:g.73242646G>T	ENSP00000245541:p.Leu49Met					GGA3_uc002jnj.1_Missense_Mutation_p.L49M|GGA3_uc010wrw.1_Translation_Start_Site|GGA3_uc002jnk.1_Translation_Start_Site|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Translation_Start_Site|GGA3_uc010wrz.1_Missense_Mutation_p.L49M	p.L49M	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		3	154	-			49			VHS.|Binds to ARF1 (in long isoform).		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.145C>A	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	g	12.24	1.877446	0.33162	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537686	T;T;T	0.26660	1.72;1.72;1.72	5.71	4.74	0.60224	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.64402	D	0.000001	T	0.50120	0.1597	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;0.978;1.0	D;D;D	0.97110	1.0;0.953;1.0	T	0.50642	-0.8804	10	0.40728	T	0.16	-26.5806	10.8402	0.46710	0.1437:0.0:0.8563:0.0	.	49;49;49	B7Z9A2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	M	49	ENSP00000245541:L49M;ENSP00000326575:L49M;ENSP00000438085:L49M	ENSP00000245541:L49M	L	-	1	2	GGA3	70754241	0.999000	0.42202	0.999000	0.59377	0.792000	0.44763	2.998000	0.49465	1.438000	0.47492	-0.146000	0.13790	CTG		0.637	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1		NM_138619		15	77	1	0	6.94344e-10	0.006122	9.36347e-10	15	77		
APCDD1	147495	broad.mit.edu	37	18	10487667	10487667	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:10487667G>A	ENST00000355285.5	+	5	1531	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GTGCGGGGCCGAGGGCTCCTG	0.582																																						uc002kom.3		NaN																	0					0						c.(1177-1179)GAG>AAG		adenomatosis polyposis coli down-regulated 1							73.0	67.0	69.0					18																	10487667		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10487667G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1177G>A	18.37:g.10487667G>A	ENSP00000347433:p.Glu393Lys						p.E393K	NM_153000	NP_694545	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	5	1531	+			393			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355285.5	37	c.1177G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318094	0.40996	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.17054	2.3	5.19	4.31	0.51392	.	0.240310	0.43919	D	0.000513	T	0.17408	0.0418	L	0.54323	1.7	0.80722	D	1	B	0.26935	0.164	B	0.26094	0.066	T	0.03374	-1.1043	10	0.10902	T	0.67	-33.0213	15.4986	0.75677	0.0:0.2785:0.7215:0.0	.	393	Q8J025	APCD1_HUMAN	K	393;444	ENSP00000347433:E393K	ENSP00000347433:E393K	E	+	1	0	APCDD1	10477667	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	4.390000	0.59646	1.289000	0.44618	-0.175000	0.13238	GAG		0.582	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2		NM_153000		32	84	0	0	0	0.013726	0	32	84		
MYO5B	4645	broad.mit.edu	37	18	47369614	47369614	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:47369614C>T	ENST00000285039.7	-	34	4907	c.4608G>A	c.(4606-4608)ctG>ctA	p.L1536L	MYO5B_ENST00000324581.6_Silent_p.L651L|MYO5B_ENST00000592688.1_Silent_p.L106L|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1536	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGCTTACTTTCAGGACTTTCT	0.527																																						uc002leb.2		NaN																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(4606-4608)CTG>CTA		myosin VB							91.0	93.0	92.0					18																	47369614		2031	4200	6231	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47369614C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4608G>A	18.37:g.47369614C>T						MYO5B_uc002ldz.2_Silent_p.L106L|MYO5B_uc002lea.2_Silent_p.L651L	p.L1536L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	34	4896	-			1536			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4608G>A	CCDS42436.1																																																																																				0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2				9	30	0	0	0	0.006214	0	9	30		
CDH7	1005	broad.mit.edu	37	18	63526247	63526247	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:63526247G>A	ENST00000397968.2	+	9	1885	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	CDH7_ENST00000536984.2_Missense_Mutation_p.E487K|CDH7_ENST00000323011.3_Missense_Mutation_p.E487K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CATGGACTATGAGACCACCGT	0.428																																						uc002ljz.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1459-1461)GAG>AAG		cadherin 7, type 2 preproprotein							82.0	79.0	80.0					18																	63526247		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63526247G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1459G>A	18.37:g.63526247G>A	ENSP00000381058:p.Glu487Lys					CDH7_uc002lka.2_Missense_Mutation_p.E487K|CDH7_uc002lkb.2_Missense_Mutation_p.E487K	p.E487K	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			9	1784	+		Esophageal squamous(42;0.129)	487			Extracellular (Potential).|Cadherin 5.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1459G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549950	0.96501	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.52295	0.67;0.67;0.67	5.32	5.32	0.75619	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.90650	3.135	0.80722	D	1	D;P	0.67145	0.996;0.925	D;P	0.65874	0.939;0.572	T	0.80466	-0.1370	10	0.87932	D	0	.	19.347	0.94367	0.0:0.0:1.0:0.0	.	487;487	F5H5X9;Q9ULB5	.;CADH7_HUMAN	K	487	ENSP00000319166:E487K;ENSP00000443030:E487K;ENSP00000381058:E487K	ENSP00000319166:E487K	E	+	1	0	CDH7	61677227	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.666000	0.98612	2.648000	0.89879	0.467000	0.42956	GAG		0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		NM_033646		5	31	0	0	0	0.014758	0	5	31		
ZNF407	55628	broad.mit.edu	37	18	72343704	72343704	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr18:72343704C>G	ENST00000299687.5	+	1	729	c.729C>G	c.(727-729)gtC>gtG	p.V243V	ZNF407_ENST00000582337.1_Silent_p.V243V|ZNF407_ENST00000577538.1_Silent_p.V243V|ZNF407_ENST00000309902.6_Silent_p.V243V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CACAGAAGGTCTTTTCCTGTG	0.453																																						uc002llw.2		NaN																	0				ovary(2)	2						c.(727-729)GTC>GTG		zinc finger protein 407 isoform 1							134.0	137.0	136.0					18																	72343704		2049	4209	6258	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343704C>G	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.729C>G	18.37:g.72343704C>G						ZNF407_uc010xfc.1_Silent_p.V243V|ZNF407_uc010dqu.1_Silent_p.V243V|ZNF407_uc002llu.2_Silent_p.V242V	p.V243V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	786	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	243					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.729C>G	CCDS45885.1																																																																																				0.453	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1		NM_017757		27	93	0	0	0	0.004656	0	27	93		
MED16	10025	broad.mit.edu	37	19	875330	875330	+	Missense_Mutation	SNP	G	G	A	rs375657697		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:875330G>A	ENST00000589119.1	-	9	1684	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L	MED16_ENST00000606828.1_5'UTR|MED16_ENST00000269814.4_Missense_Mutation_p.S562L|MED16_ENST00000325464.1_Missense_Mutation_p.S562L|MED16_ENST00000395808.3_Missense_Mutation_p.S562L|MED16_ENST00000312090.6_Missense_Mutation_p.S562L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	562					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCAGCAGCGACTTCAGGGT	0.627																																						uc002lqd.1		NaN																	0					0						c.(1684-1686)TCG>TTG		mediator complex subunit 16		G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	73.0	74.0	73.0		1685	3.4	1.0	19		73	0,8598		0,0,4299	no	missense	MED16	NM_005481.2	145	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	562/878	875330	1,13003	2203	4299	6502	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:875330G>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1685C>T	19.37:g.875330G>A	ENSP00000464810:p.Ser562Leu					MED16_uc010drw.1_Missense_Mutation_p.S387L|MED16_uc002lqe.2_Missense_Mutation_p.S551L|MED16_uc002lqf.2_Missense_Mutation_p.S551L|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.S482L|MED16_uc010xfx.1_Missense_Mutation_p.S407L|MED16_uc010xfy.1_Missense_Mutation_p.S139L|MED16_uc010xfz.1_5'Flank	p.S562L	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1836	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	562					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1685C>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929133	0.92389	2.27E-4	0.0	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	4.5	3.44	0.39384	.	0.146083	0.47852	D	0.000215	T	0.51432	0.1674	M	0.67397	2.05	0.80722	D	1	D;B;B;B;B;B	0.64830	0.994;0.119;0.032;0.119;0.119;0.144	P;B;B;B;B;B	0.48089	0.566;0.016;0.013;0.016;0.016;0.028	T	0.60485	-0.7254	10	0.87932	D	0	-10.3762	11.9361	0.52874	0.0878:0.0:0.9122:0.0	.	150;562;562;562;562;562	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;.;MED16_HUMAN	L	562;562;562;562;493;418;323;321;280;562	ENSP00000325612:S562L;ENSP00000308528:S562L;ENSP00000379153:S562L;ENSP00000269814:S562L	ENSP00000269814:S562L	S	-	2	0	MED16	826330	1.000000	0.71417	0.960000	0.40013	0.937000	0.57800	7.097000	0.76967	2.047000	0.60756	0.561000	0.74099	TCG		0.627	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3		NM_005481		23	56	0	0	0	0.021523	0	23	56		
CIRBP	1153	broad.mit.edu	37	19	1271019	1271019	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:1271019C>T	ENST00000588030.1	+	2	347	c.87C>T	c.(85-87)taC>taT	p.Y29Y	CIRBP_ENST00000589660.1_Silent_p.Y29Y|CIRBP_ENST00000588090.1_Silent_p.Y29Y|CIRBP_ENST00000589235.1_Silent_p.Y29Y|CIRBP_ENST00000588230.1_Silent_p.Y29Y|CIRBP_ENST00000589686.1_Silent_p.Y29Y|CIRBP_ENST00000413636.2_Silent_p.Y29Y|CIRBP_ENST00000586773.1_Silent_p.Y29Y|CIRBP_ENST00000320936.5_Silent_p.Y29Y|CIRBP_ENST00000585630.1_Silent_p.Y29Y|CIRBP_ENST00000591935.1_Silent_p.Y29Y|CIRBP_ENST00000444172.2_Missense_Mutation_p.T12M|CIRBP_ENST00000587323.1_Silent_p.Y29Y|CIRBP_ENST00000586472.1_Silent_p.Y29Y|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000589710.1_Silent_p.Y29Y|CIRBP_ENST00000587896.1_Silent_p.Y29Y			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	29	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCAAAGTACGGACAGATCT	0.592																																						uc002lrr.3		NaN																	0					0						c.(85-87)TAC>TAT		cold inducible RNA binding protein							132.0	136.0	135.0					19																	1271019		2203	4300	6503	SO:0001819	synonymous_variant	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1271019C>T	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.87C>T	19.37:g.1271019C>T						C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Missense_Mutation_p.T12M|CIRBP_uc002lrt.2_Silent_p.Y29Y|CIRBP_uc010xgl.1_Silent_p.Y29Y|CIRBP_uc002lrv.3_Silent_p.Y29Y|CIRBP_uc002lru.2_RNA	p.Y29Y	NM_001280	NP_001271	Q14011	CIRBP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	236	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	29			RRM.		B3KT17|B4E2X2	Silent	SNP	ENST00000588030.1	37	c.87C>T	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	C	3.369	-0.128751	0.06753	.	.	ENSG00000099622	ENST00000444172	.	.	.	4.14	-2.8	0.05823	.	.	.	.	.	T	0.37128	0.0992	.	.	.	0.22926	N	0.998553	.	.	.	.	.	.	T	0.45818	-0.9235	5	0.87932	D	0	-11.4252	5.8737	0.18816	0.0:0.2886:0.1437:0.5676	.	.	.	.	M	12	.	ENSP00000407512:T12M	T	+	2	0	CIRBP	1222019	0.077000	0.21312	0.001000	0.08648	0.005000	0.04900	-0.723000	0.04952	-0.337000	0.08426	0.453000	0.30009	ACG		0.592	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1		NM_001280		41	159	0	0	0	0.00874	0	41	159		
SPPL2B	56928	broad.mit.edu	37	19	2339822	2339822	+	RNA	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:2339822G>A	ENST00000452401.2	+	0	679							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTCCCAAGAAGGTACATG	0.677																																						uc002lvs.2		NaN																	0					0						c.e6-1		signal peptide peptidase-like 2B isoform 2							89.0	101.0	97.0					19																	2339822		2180	4256	6436			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2339822G>A		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2339822G>A						SPPL2B_uc010dsw.1_Splice_Site_p.K172_splice|SPPL2B_uc010dsy.1_Splice_Site_p.K172_splice|SPPL2B_uc010dsz.1_Splice_Site_p.K200_splice|SPPL2B_uc002lvr.2_Splice_Site_p.K200_splice|SPPL2B_uc010dta.1_Intron|SPPL2B_uc002lvu.2_Silent_p.K5K	p.K200_splice	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	680	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	Splice_Site	SNP	ENST00000452401.2	37	c.600_splice		.	.	.	.	.	.	.	.	.	.	G	23.9	4.475645	0.84640	.	.	ENSG00000005206	ENST00000452401;ENST00000382189	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0275	0.71680	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC004410.1	2290822	1.000000	0.71417	0.902000	0.35471	0.935000	0.57460	7.059000	0.76684	2.107000	0.64212	0.561000	0.74099	.		0.677	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript			NM_020172		4	11	0	0	0	0.001168	0	4	11		
CELF5	60680	broad.mit.edu	37	19	3251037	3251037	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:3251037C>T	ENST00000292672.2	+	2	351	c.314C>T	c.(313-315)gCc>gTc	p.A105V	CELF5_ENST00000541430.2_Missense_Mutation_p.A105V	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	105	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						GCTCAGACTGCCCTGCACGAG	0.627																																						uc002lxm.2		NaN																	0				ovary(2)	2						c.(313-315)GCC>GTC		bruno-like 5, RNA binding protein							113.0	94.0	101.0					19																	3251037		2203	4300	6503	SO:0001583	missense	60680				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:3251037C>T	AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"""RNA binding motif (RRM) containing"""	14058	protein-coding gene	gene with protein product		612680	"""Bruno (Drosophila) -like 5, RNA binding protein"", ""bruno-like 5, RNA binding protein (Drosophila)"""	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.314C>T	19.37:g.3251037C>T	ENSP00000292672:p.Ala105Val					CELF5_uc002lxl.1_Missense_Mutation_p.A105V|CELF5_uc010dtj.1_Missense_Mutation_p.A105V|CELF5_uc010xhg.1_5'UTR	p.A105V	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN			2	351	+			105			RRM 1.		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	ENST00000292672.2	37	c.314C>T	CCDS12106.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130239	0.56721	.	.	ENSG00000161082	ENST00000292672;ENST00000541430	T;T	0.18810	2.19;2.19	2.81	2.81	0.32909	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.139308	0.45126	U	0.000398	T	0.24122	0.0584	M	0.75884	2.315	0.47905	D	0.999544	P;B	0.50528	0.936;0.381	B;B	0.40101	0.319;0.083	T	0.29731	-1.0002	10	0.72032	D	0.01	.	11.7992	0.52118	0.0:1.0:0.0:0.0	.	105;105	Q8N6W0-2;Q8N6W0	.;CELF5_HUMAN	V	105	ENSP00000292672:A105V;ENSP00000443498:A105V	ENSP00000292672:A105V	A	+	2	0	CELF5	3202037	1.000000	0.71417	0.992000	0.48379	0.566000	0.35808	6.820000	0.75267	1.894000	0.54839	0.416000	0.27883	GCC		0.627	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452574.1		NM_021938		23	80	0	0	0	0.012319	0	23	80		
ADAMTS10	81794	broad.mit.edu	37	19	8670587	8670587	+	Silent	SNP	G	G	T	rs533319131		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:8670587G>T	ENST00000597188.1	-	3	279	c.9C>A	c.(7-9)ccC>ccA	p.P3P	ADAMTS10_ENST00000596709.1_Intron|ADAMTS10_ENST00000270328.4_Silent_p.P3P	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	3						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCTGGCAGGCGGGAGCCATAG	0.682																																						uc002mkj.1		NaN																	0				pancreas(2)|skin(2)	4						c.(7-9)CCC>CCA		ADAM metallopeptidase with thrombospondin type 1							18.0	19.0	19.0					19																	8670587		2200	4299	6499	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670587G>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.9C>A	19.37:g.8670587G>T						ADAMTS10_uc002mkk.1_5'UTR	p.P3P	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			3	283	-			3					M0QZE4	Silent	SNP	ENST00000597188.1	37	c.9C>A	CCDS12206.1																																																																																				0.682	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3		NM_030957		11	22	1	0	0.000308642	0.003163	0.000392558	11	22		
MUC16	94025	broad.mit.edu	37	19	9063595	9063595	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:9063595T>A	ENST00000397910.4	-	3	24054	c.23851A>T	c.(23851-23853)Agg>Tgg	p.R7951W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7953	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACCCCTCCTCATAAGAGTG	0.463																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(23851-23853)AGG>TGG		mucin 16							137.0	128.0	131.0					19																	9063595		1977	4159	6136	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9063595T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23851A>T	19.37:g.9063595T>A	ENSP00000381008:p.Arg7951Trp						p.R7951W	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	24055	-			7953			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23851A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.258	0.233124	0.09969	.	.	ENSG00000181143	ENST00000397910	T	0.22539	1.95	2.12	1.08	0.20341	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	.	.	.	P	0.40909	0.732	B	0.33846	0.171	T	0.17440	-1.0369	8	0.87932	D	0	.	3.871	0.09036	0.0:0.1934:0.0:0.8066	.	7951	B5ME49	.	W	7951	ENSP00000381008:R7951W	ENSP00000381008:R7951W	R	-	1	2	MUC16	8924595	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.597000	0.36729	0.272000	0.22027	0.332000	0.21555	AGG		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		17	55	0	0	0	0.00499	0	17	55		
ICAM3	3385	broad.mit.edu	37	19	10444084	10444084	+	IGR	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:10444084C>T	ENST00000160262.5	-	0	1934				RAVER1_ENST00000293677.6_Missense_Mutation_p.E51K	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GGCAGCTCTTCTTCCGGCGCC	0.672																																						uc002moa.2		NaN																	0				ovary(1)	1						c.(151-153)GAA>AAA		RAVER1							38.0	47.0	44.0					19																	10444084		1840	4076	5916	SO:0001628	intergenic_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10444084C>T		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942			19.37:g.10444084C>T							p.E51K	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		1	231	-			34					Q6PD68	Missense_Mutation	SNP	ENST00000160262.5	37	c.151G>A	CCDS12235.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933971	0.52866	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.11277	2.79	4.64	2.38	0.29361	.	0.659676	0.15409	N	0.263865	T	0.06188	0.0160	N	0.14661	0.345	0.32746	N	0.507104	B	0.16603	0.018	B	0.19391	0.025	T	0.29274	-1.0017	10	0.07482	T	0.82	-4.4356	12.6268	0.56634	0.0:0.6673:0.3326:0.0	.	51	E9PAU2	.	K	51;34	ENSP00000293677:E51K	ENSP00000293677:E51K	E	-	1	0	RAVER1	10305084	1.000000	0.71417	0.992000	0.48379	0.423000	0.31445	3.732000	0.55021	0.461000	0.27071	0.549000	0.68633	GAA		0.672	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1				26	146	0	0	0	0.009535	0	26	146		
SLC44A2	57153	broad.mit.edu	37	19	10745710	10745710	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:10745710G>A	ENST00000335757.5	+	12	1392	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K	SLC44A2_ENST00000407327.4_Missense_Mutation_p.R337K|SLC44A2_ENST00000586078.1_Missense_Mutation_p.R339K			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	339					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTCCGGAAGAGAATTCTCATC	0.547																																						uc002mpf.2		NaN																	0				ovary(1)	1						c.(1015-1017)AGA>AAA		solute carrier family 44, member 2 isoform 1	Choline(DB00122)						154.0	169.0	164.0					19																	10745710		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10745710G>A	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1016G>A	19.37:g.10745710G>A	ENSP00000336888:p.Arg339Lys					SLC44A2_uc002mpe.3_Missense_Mutation_p.R337K|SLC44A2_uc002mpg.1_Missense_Mutation_p.R59K|SLC44A2_uc002mph.2_5'Flank	p.R339K	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		12	1155	+			339			Cytoplasmic (Potential).		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.1016G>A	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179118	0.94846	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.50813	0.73;0.73	4.8	4.8	0.61643	.	0.046056	0.85682	D	0.000000	T	0.68751	0.3035	M	0.77616	2.38	0.58432	D	0.999997	D;D;D	0.64830	0.969;0.975;0.994	D;D;D	0.67382	0.918;0.951;0.95	T	0.73404	-0.3993	10	0.72032	D	0.01	-32.4858	16.7738	0.85545	0.0:0.0:1.0:0.0	.	339;339;337	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	K	337;339;339	ENSP00000385135:R337K;ENSP00000336888:R339K	ENSP00000336888:R339K	R	+	2	0	SLC44A2	10606710	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	9.561000	0.98142	2.501000	0.84356	0.455000	0.32223	AGA		0.547	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1				64	234	0	0	0	0.01441	0	64	234		
RAB3D	9545	broad.mit.edu	37	19	11446394	11446394	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:11446394G>C	ENST00000222120.3	-	3	554	c.294C>G	c.(292-294)ttC>ttG	p.F98L	RAB3D_ENST00000589655.1_Missense_Mutation_p.F98L	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	98					exocytosis (GO:0006887)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)|zymogen granule (GO:0042588)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						ACATGAGCAGGAAGCCCATGG	0.587																																						uc002mqy.2		NaN																	0				ovary(2)	2						c.(292-294)TTC>TTG		RAB3D, member RAS oncogene family							168.0	151.0	157.0					19																	11446394		2203	4300	6503	SO:0001583	missense	9545				exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr19:11446394G>C	AF081353	CCDS12257.1	19p13.2	2012-10-02			ENSG00000105514	ENSG00000105514		"""RAB, member RAS oncogene"""	9779	protein-coding gene	gene with protein product	"""Rab3D upregulated with myeloid differentiation"", ""glioblastoma overexpressed"""	604350		GOV		10023084, 10072586	Standard	NM_004283		Approved	RAB16, D2-2, RAD3D	uc002mqx.3	O95716	OTTHUMG00000180835	ENST00000222120.3:c.294C>G	19.37:g.11446394G>C	ENSP00000222120:p.Phe98Leu						p.F98L	NM_004283	NP_004274	O95716	RAB3D_HUMAN			3	532	-			98						Missense_Mutation	SNP	ENST00000222120.3	37	c.294C>G	CCDS12257.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209582	0.95069	.	.	ENSG00000105514	ENST00000222120	T	0.79247	-1.25	4.78	4.78	0.61160	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	N	0.11364	0.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83324	-0.0016	10	0.87932	D	0	.	17.088	0.86616	0.0:0.0:1.0:0.0	.	98	O95716	RAB3D_HUMAN	L	98	ENSP00000222120:F98L	ENSP00000222120:F98L	F	-	3	2	RAB3D	11307394	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.325000	0.65869	2.653000	0.90120	0.563000	0.77884	TTC		0.587	RAB3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453211.1		NM_004283		36	155	0	0	0	0.009718	0	36	155		
IL27RA	9466	broad.mit.edu	37	19	14150615	14150615	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14150615G>A	ENST00000263379.2	+	4	552	c.427G>A	c.(427-429)Gac>Aac	p.D143N		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	143	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TTCCGAGGATGACCCCCTGGA	0.607																																					Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2		NaN																	0					0						c.(427-429)GAC>AAC		class I cytokine receptor precursor							66.0	68.0	67.0					19																	14150615		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150615G>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.427G>A	19.37:g.14150615G>A	ENSP00000263379:p.Asp143Asn						p.D143N	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			4	850	+			143			Extracellular (Potential).|Fibronectin type-III 1.		A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.427G>A	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	9.311	1.055467	0.19907	.	.	ENSG00000104998	ENST00000263379	T	0.52754	0.65	4.42	2.18	0.27775	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.501430	0.04510	N	0.382793	T	0.36608	0.0973	N	0.24115	0.695	0.09310	N	1	B	0.23058	0.079	B	0.26614	0.071	T	0.25328	-1.0135	10	0.15952	T	0.53	-13.6841	10.8062	0.46518	0.0:0.373:0.627:0.0	.	143	Q6UWB1	I27RA_HUMAN	N	143	ENSP00000263379:D143N	ENSP00000263379:D143N	D	+	1	0	IL27RA	14011615	0.075000	0.21258	0.005000	0.12908	0.189000	0.23516	2.956000	0.49129	0.571000	0.29365	0.555000	0.69702	GAC		0.607	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1		NM_004843		91	45	0	0	0	0.01441	0	91	45		
ASF1B	55723	broad.mit.edu	37	19	14231399	14231399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14231399C>A	ENST00000263382.3	-	4	980	c.481G>T	c.(481-483)Gag>Tag	p.E161*	ASF1B_ENST00000592798.1_Nonsense_Mutation_p.E102*|PRKACA_ENST00000308677.4_5'Flank|PRKACA_ENST00000590853.1_5'Flank|CTB-55O6.10_ENST00000590715.1_RNA	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	161					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TCTATGGCCTCCAGCCTGTCC	0.632																																						uc002mye.2		NaN																	0					0						c.(481-483)GAG>TAG		anti-silencing function 1B							71.0	62.0	65.0					19																	14231399		2203	4300	6503	SO:0001587	stop_gained	55723				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus		g.chr19:14231399C>A	AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"""ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"""			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.481G>T	19.37:g.14231399C>A	ENSP00000263382:p.Glu161*					PRKACA_uc002myc.2_5'Flank	p.E161*	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN			4	653	-			161					Q53G51|Q9NVZ0	Nonsense_Mutation	SNP	ENST00000263382.3	37	c.481G>T	CCDS12306.1	.	.	.	.	.	.	.	.	.	.	C	41	8.617485	0.98886	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	17.5569	0.87894	0.0:1.0:0.0:0.0	.	.	.	.	X	161	.	ENSP00000263382:E161X	E	-	1	0	ASF1B	14092399	1.000000	0.71417	0.959000	0.39883	0.804000	0.45430	7.468000	0.80943	2.735000	0.93741	0.655000	0.94253	GAG		0.632	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317946.1		NM_018154		15	39	1	0	0.000422831	0.004007	0.00053697	15	39		
TECR	9524	broad.mit.edu	37	19	14675655	14675655	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:14675655C>G	ENST00000215567.5	+	8	684	c.547C>G	c.(547-549)Ctc>Gtc	p.L183V	TECR_ENST00000600083.1_Missense_Mutation_p.L28V|TECR_ENST00000596073.1_Missense_Mutation_p.L28V|TECR_ENST00000436007.2_Missense_Mutation_p.L198V	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	183					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						CAATCACCCTCTCTACACTCC	0.632																																						uc002mza.2		NaN																	0					0						c.(547-549)CTC>GTC		glycoprotein, synaptic 2							116.0	108.0	111.0					19																	14675655		2203	4300	6503	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14675655C>G	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.547C>G	19.37:g.14675655C>G	ENSP00000215567:p.Leu183Val					TECR_uc002mzb.2_Missense_Mutation_p.L198V|TECR_uc010xns.1_Missense_Mutation_p.L28V|TECR_uc002mzc.2_Missense_Mutation_p.L28V|TECR_uc002mzd.2_Missense_Mutation_p.L183V|TECR_uc002mze.2_Missense_Mutation_p.L9V|TECR_uc002mzf.1_5'Flank	p.L183V	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN			8	674	+			183					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.547C>G	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654830	0.47467	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.29655	1.56;1.56	4.42	4.42	0.53409	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	M	0.92880	3.355	0.58432	D	0.999997	B;P;B	0.34639	0.205;0.461;0.205	B;B;B	0.34590	0.186;0.186;0.186	T	0.55062	-0.8199	10	0.66056	D	0.02	-10.1172	10.5964	0.45341	0.0:0.8039:0.1961:0.0	.	183;198;183	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	V	183;198	ENSP00000215567:L183V;ENSP00000397206:L198V	ENSP00000215567:L183V	L	+	1	0	TECR	14536655	0.995000	0.38212	1.000000	0.80357	0.782000	0.44232	3.214000	0.51161	2.010000	0.58986	0.555000	0.69702	CTC		0.632	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1		NM_138501		20	127	0	0	0	0.010504	0	20	127		
OCEL1	79629	broad.mit.edu	37	19	17337908	17337908	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17337908G>A	ENST00000215061.4	+	3	396	c.352G>A	c.(352-354)Gat>Aat	p.D118N	OCEL1_ENST00000601529.1_Missense_Mutation_p.D118N|OCEL1_ENST00000597836.1_Missense_Mutation_p.D62N|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	118										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TGTGTTTGAGGATGAGTTGCT	0.642																																						uc002nfp.2		NaN																	0				central_nervous_system(1)	1						c.(352-354)GAT>AAT		occludin/ELL domain containing 1							72.0	85.0	81.0					19																	17337908		2203	4300	6503	SO:0001583	missense	79629							g.chr19:17337908G>A	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.352G>A	19.37:g.17337908G>A	ENSP00000215061:p.Asp118Asn						p.D118N	NM_024578	NP_078854	Q9H607	OCEL1_HUMAN			3	354	+			118						Missense_Mutation	SNP	ENST00000215061.4	37	c.352G>A	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492979	0.84962	.	.	ENSG00000099330	ENST00000215061	T	0.38722	1.12	4.13	4.13	0.48395	.	0.496679	0.20341	N	0.094231	T	0.52289	0.1725	L	0.36672	1.1	0.31678	N	0.643463	D	0.89917	1.0	D	0.80764	0.994	T	0.59064	-0.7524	10	0.87932	D	0	-12.0382	11.7434	0.51807	0.0:0.0:1.0:0.0	.	118	Q9H607	OCEL1_HUMAN	N	118	ENSP00000215061:D118N	ENSP00000215061:D118N	D	+	1	0	OCEL1	17198908	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	5.001000	0.63946	2.137000	0.66172	0.491000	0.48974	GAT		0.642	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1		NM_024578		6	171	0	0	0	0.001984	0	6	171		
PLVAP	83483	broad.mit.edu	37	19	17476638	17476638	+	Missense_Mutation	SNP	C	C	G	rs377500653		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17476638C>G	ENST00000252590.4	-	3	697	c.636G>C	c.(634-636)caG>caC	p.Q212H		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	212					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTTGGCCAGCTGGCGCTCTT	0.562																																						uc002ngk.1		NaN																	0					0						c.(634-636)CAG>CAC		plasmalemma vesicle associated protein							79.0	72.0	74.0					19																	17476638		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17476638C>G	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.636G>C	19.37:g.17476638C>G	ENSP00000252590:p.Gln212His						p.Q212H	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			3	686	-			212			Potential.|Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.636G>C	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783183	0.49891	.	.	ENSG00000130300	ENST00000252590	.	.	.	5.04	0.285	0.15705	.	0.700382	0.14469	N	0.317739	T	0.40979	0.1139	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.15867	-1.0422	9	0.59425	D	0.04	-22.7185	4.7221	0.12924	0.0:0.4527:0.3517:0.1956	.	212	Q9BX97	PLVAP_HUMAN	H	212	.	ENSP00000252590:Q212H	Q	-	3	2	PLVAP	17337638	0.630000	0.27155	0.003000	0.11579	0.150000	0.21749	0.542000	0.23222	0.132000	0.18615	0.305000	0.20034	CAG		0.562	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1		NM_031310		24	92	0	0	0	0.004656	0	24	92		
UNC13A	23025	broad.mit.edu	37	19	17735691	17735691	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17735691C>T	ENST00000519716.2	-	35	4143	c.4144G>A	c.(4144-4146)Gtt>Att	p.V1382I	UNC13A_ENST00000428389.2_Missense_Mutation_p.V1470I|UNC13A_ENST00000552293.1_Missense_Mutation_p.V1382I|UNC13A_ENST00000252773.7_Missense_Mutation_p.V1382I|UNC13A_ENST00000551649.1_Missense_Mutation_p.V1382I|UNC13A_ENST00000550896.1_Missense_Mutation_p.V1380I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1382	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGTTCATAACCAGCTTCCAC	0.597																																						uc002nhd.2		NaN																	0				ovary(3)	3						c.(4408-4410)GTT>ATT		unc-13 homolog A							66.0	73.0	71.0					19																	17735691		2025	4197	6222	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17735691C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4144G>A	19.37:g.17735691C>T	ENSP00000429562:p.Val1382Ile						p.V1470I	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			35	4408	-			1382			MHD2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.4408G>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768364	0.69878	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	4.11	4.11	0.48088	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.241937	0.33631	U	0.004704	D	0.85822	0.5786	M	0.88181	2.935	0.46823	D	0.999215	B	0.22983	0.078	B	0.41946	0.371	D	0.87168	0.2219	10	0.72032	D	0.01	-27.8013	14.2538	0.66038	0.0:1.0:0.0:0.0	.	1382	Q9UPW8	UN13A_HUMAN	I	1382;1470;1382;1382;1382;1380	ENSP00000429562:V1382I;ENSP00000400409:V1470I;ENSP00000252773:V1382I;ENSP00000447236:V1382I;ENSP00000447572:V1382I;ENSP00000446831:V1380I	ENSP00000252773:V1382I	V	-	1	0	UNC13A	17596691	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.375000	0.79646	2.026000	0.59711	0.306000	0.20318	GTT		0.597	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2		XM_038604		9	44	0	0	0	0.006214	0	9	44		
UNC13A	23025	broad.mit.edu	37	19	17737462	17737462	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:17737462G>A	ENST00000519716.2	-	34	4052	c.4053C>T	c.(4051-4053)atC>atT	p.I1351I	UNC13A_ENST00000428389.2_Silent_p.I1439I|UNC13A_ENST00000552293.1_Silent_p.I1351I|UNC13A_ENST00000252773.7_Silent_p.I1351I|UNC13A_ENST00000551649.1_Silent_p.I1351I|UNC13A_ENST00000550896.1_Silent_p.I1349I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1351	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCAGGTCCATGATGGGCTGCA	0.647																																						uc002nhd.2		NaN																	0				ovary(3)	3						c.(4315-4317)ATC>ATT		unc-13 homolog A							24.0	24.0	24.0					19																	17737462		2125	4208	6333	SO:0001819	synonymous_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17737462G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4053C>T	19.37:g.17737462G>A							p.I1439I	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			34	4317	-			1351			MHD2.		E5RHY9	Silent	SNP	ENST00000519716.2	37	c.4317C>T	CCDS46013.2																																																																																				0.647	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2		XM_038604		3	6	0	0	0	0.004672	0	3	6		
ZNF536	9745	broad.mit.edu	37	19	31040280	31040280	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:31040280G>A	ENST00000355537.3	+	4	3901	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1252					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)					GCCAAAGCCGGAGCGGGGGCC	0.612																																						uc002nsu.1		NaN																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3754-3756)GAG>AAG		zinc finger protein 536							18.0	19.0	19.0					19																	31040280		2195	4290	6485	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040280G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3754G>A	19.37:g.31040280G>A	ENSP00000347730:p.Glu1252Lys					ZNF536_uc010edd.1_Missense_Mutation_p.E1252K	p.E1252K	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3892	+	Esophageal squamous(110;0.0834)		1252					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3754G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952805	0.53293	.	.	ENSG00000198597	ENST00000355537	T	0.13307	2.6	5.18	5.18	0.71444	.	0.156689	0.56097	D	0.000026	T	0.13670	0.0331	L	0.29908	0.895	0.54753	D	0.999982	P;P	0.46395	0.682;0.877	B;B	0.40741	0.129;0.339	T	0.02257	-1.1187	10	0.51188	T	0.08	-30.2034	18.7026	0.91626	0.0:0.0:1.0:0.0	.	1252;1252	A7E228;O15090	.;ZN536_HUMAN	K	1252	ENSP00000347730:E1252K	ENSP00000347730:E1252K	E	+	1	0	ZNF536	35732120	1.000000	0.71417	0.997000	0.53966	0.781000	0.44180	9.272000	0.95707	2.401000	0.81631	0.650000	0.86243	GAG		0.612	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		19	49	0	0	0	0.008871	0	19	49		
CEP89	84902	broad.mit.edu	37	19	33444536	33444536	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:33444536C>T	ENST00000305768.5	-	4	565	c.477G>A	c.(475-477)gtG>gtA	p.V159V	CEP89_ENST00000590597.2_Silent_p.V159V	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	159					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTCTGTGTGGCACAGCGTACA	0.468																																						uc002nty.2		NaN																	0					0						c.(475-477)GTG>GTA		coiled-coil domain containing 123							426.0	462.0	449.0					19																	33444536		2203	4300	6503	SO:0001819	synonymous_variant	84902					centrosome|spindle pole		g.chr19:33444536C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.477G>A	19.37:g.33444536C>T						CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Silent_p.V159V|CCDC123_uc002nua.2_Silent_p.V159V|CCDC123_uc002nub.1_Silent_p.V51V	p.V159V	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN			4	566	-	Esophageal squamous(110;0.137)		159					B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	c.477G>A	CCDS32987.1																																																																																				0.468	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2		NM_032816		17	741	0	0	0	0.007413	0	17	741		
CHST8	64377	broad.mit.edu	37	19	34263476	34263476	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:34263476C>G	ENST00000262622.4	+	4	1541	c.783C>G	c.(781-783)ttC>ttG	p.F261L	CHST8_ENST00000438847.3_Missense_Mutation_p.F261L|CHST8_ENST00000434302.1_Missense_Mutation_p.F261L	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	261					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCGAGCCCTTCGAGAGGCTGG	0.612																																						uc002nus.3		NaN																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(781-783)TTC>TTG		carbohydrate (N-acetylgalactosamine 4-0)							103.0	96.0	98.0					19																	34263476		2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263476C>G	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.783C>G	19.37:g.34263476C>G	ENSP00000262622:p.Phe261Leu					CHST8_uc002nut.3_Missense_Mutation_p.F261L|CHST8_uc002nuu.2_Missense_Mutation_p.F261L	p.F261L	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1288	+	Esophageal squamous(110;0.162)		261			PAPS (By similarity).|Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.783C>G	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.388975	0.42308	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74842	-0.88;-0.88;-0.88	4.87	1.21	0.21127	.	0.137901	0.49305	D	0.000143	T	0.51312	0.1667	N	0.12637	0.245	0.50039	D	0.999843	B	0.26512	0.151	B	0.31191	0.125	T	0.22730	-1.0208	10	0.27785	T	0.31	-4.9757	5.5637	0.17158	0.0:0.368:0.0:0.632	.	261	Q9H2A9	CHST8_HUMAN	L	261	ENSP00000392604:F261L;ENSP00000393879:F261L;ENSP00000262622:F261L	ENSP00000262622:F261L	F	+	3	2	CHST8	38955316	0.210000	0.23517	1.000000	0.80357	0.862000	0.49288	-0.471000	0.06631	0.445000	0.26639	0.297000	0.19635	TTC		0.612	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1		NM_022467		18	191	0	0	0	0.007413	0	18	191		
FFAR3	2865	broad.mit.edu	37	19	35850555	35850555	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:35850555C>G	ENST00000327809.4	+	2	964	c.763C>G	c.(763-765)Ccg>Gcg	p.P255A	FFAR3_ENST00000594310.1_Missense_Mutation_p.P255A	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	255					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGGTGAAAGCCCGGCGTGGAG	0.592																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2		NaN																	0					0						c.(763-765)CCG>GCG		free fatty acid receptor 3							314.0	227.0	256.0					19																	35850555		2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850555C>G	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.763C>G	19.37:g.35850555C>G	ENSP00000328230:p.Pro255Ala					FFAR3_uc010xsu.1_Intron	p.P255A	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	838	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		255			Extracellular (Potential).		B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.763C>G	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	8.385	0.838443	0.16891	.	.	ENSG00000185897	ENST00000327809	T	0.71934	-0.61	5.13	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.437153	0.23744	U	0.044993	T	0.80763	0.4685	M	0.81614	2.55	0.23416	N	0.99772	D	0.69078	0.997	D	0.68483	0.958	T	0.72154	-0.4376	10	0.08179	T	0.78	-32.4759	13.2376	0.59979	0.0:0.8388:0.1612:0.0	.	255	O14843	FFAR3_HUMAN	A	255	ENSP00000328230:P255A	ENSP00000328230:P255A	P	+	1	0	FFAR3	40542395	0.103000	0.21917	0.335000	0.25508	0.010000	0.07245	0.849000	0.27723	1.106000	0.41623	0.455000	0.32223	CCG		0.592	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2		NM_005304		34	583	0	0	0	0.019004	0	34	583		
IFNL2	282616	broad.mit.edu	37	19	39759824	39759824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:39759824C>A	ENST00000331982.5	+	3	280	c.225C>A	c.(223-225)tgC>tgA	p.C75*		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	75					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											ACTGCAGGTGCCACTCCCGCC	0.637																																						uc002oku.1		NaN																	0				ovary(1)|skin(1)	2						c.(223-225)TGC>TGA		interleukin 28A precursor							27.0	30.0	29.0					19																	39759824		2202	4299	6501	SO:0001587	stop_gained	282616				response to virus	extracellular space	cytokine activity	g.chr19:39759824C>A	AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.225C>A	19.37:g.39759824C>A	ENSP00000333639:p.Cys75*						p.C75*	NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		3	277	+	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		75					Q45KQ8|Q6VN55|Q8IWL7	Nonsense_Mutation	SNP	ENST00000331982.5	37	c.225C>A	CCDS42567.1	.	.	.	.	.	.	.	.	.	.	c	16.11	3.030124	0.54790	.	.	ENSG00000183709	ENST00000331982	.	.	.	3.13	3.13	0.36017	.	0.088794	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8415	9.9626	0.41706	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000333639:C75X	C	+	3	2	IL28A	44451664	0.057000	0.20700	0.076000	0.20297	0.176000	0.22953	1.012000	0.29924	1.779000	0.52309	0.298000	0.19748	TGC		0.637	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463833.1		NM_172138		6	26	1	0	8.12818e-05	0.001984	0.000104505	6	26		
CD3EAP	10849	broad.mit.edu	37	19	45910367	45910367	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:45910367C>T	ENST00000309424.3	+	2	526	c.38C>T	c.(37-39)tCt>tTt	p.S13F	ERCC1_ENST00000588738.1_5'Flank|CD3EAP_ENST00000589804.1_Missense_Mutation_p.S15F|PPP1R13L_ENST00000360957.5_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	13					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.S13C(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GCTCGGTTCTCTTGTCCCCCC	0.592																																						uc002pbq.1		NaN																	1	Substitution - Missense(1)		breast(1)	large_intestine(2)|ovary(2)	4						c.(37-39)TCT>TTT		CD3E antigen, epsilon polypeptide associated							117.0	109.0	111.0					19																	45910367		2203	4300	6503	SO:0001583	missense	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45910367C>T	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.38C>T	19.37:g.45910367C>T	ENSP00000310966:p.Ser13Phe					PPP1R13L_uc002pbn.2_5'Flank|PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.S15F	p.S13F	NM_012099	NP_036231	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	2	526	+		all_neural(266;0.224)|Ovarian(192;0.231)	13					Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	c.38C>T	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240059	0.79912	.	.	ENSG00000117877	ENST00000309424	T	0.13538	2.58	5.09	5.09	0.68999	.	0.640527	0.14908	N	0.291404	T	0.27594	0.0678	L	0.32530	0.975	0.38569	D	0.949907	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.97	T	0.02352	-1.1172	10	0.59425	D	0.04	-15.2223	14.339	0.66611	0.0:1.0:0.0:0.0	.	15;13	O15446-2;O15446	.;RPA34_HUMAN	F	13	ENSP00000310966:S13F	ENSP00000310966:S13F	S	+	2	0	CD3EAP	50602207	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.127000	0.31357	2.517000	0.84864	0.561000	0.74099	TCT		0.592	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1		NM_012099		27	221	0	0	0	0.005443	0	27	221		
ARHGAP35	2909	broad.mit.edu	37	19	47502569	47502569	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:47502569G>A	ENST00000404338.3	+	5	4045	c.4045G>A	c.(4045-4047)Gac>Aac	p.D1349N	ARHGAP35_ENST00000598548.1_3'UTR	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1349	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AGAAATCAACGACCGGGAGCA	0.493																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(4045-4047)GAC>AAC		glucocorticoid receptor DNA binding factor 1							42.0	42.0	42.0					19																	47502569		1883	4117	6000	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47502569G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4045G>A	19.37:g.47502569G>A	ENSP00000385720:p.Asp1349Asn						p.D1349N	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	5	4045	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1349			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.4045G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397889	0.96030	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.46451	0.87	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.58354	1.805	0.80722	D	1	P	0.37955	0.612	B	0.38500	0.275	T	0.51458	-0.8703	10	0.72032	D	0.01	-34.1738	17.2627	0.87075	0.0:0.0:1.0:0.0	.	1349	Q9NRY4-2	.	N	1349	ENSP00000385720:D1349N	ENSP00000324820:D1349N	D	+	1	0	ARHGAP35	52194409	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.604000	0.98317	2.389000	0.81357	0.491000	0.48974	GAC		0.493	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		7	15	0	0	0	0.00308	0	7	15		
PTOV1	53635	broad.mit.edu	37	19	50361229	50361229	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50361229G>C	ENST00000601675.1	+	8	977	c.873G>C	c.(871-873)gaG>gaC	p.E291D	AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000600603.1_Missense_Mutation_p.E259D|PTOV1_ENST00000599732.1_Missense_Mutation_p.E291D|AC018766.5_ENST00000599259.1_RNA|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000391842.1_Missense_Mutation_p.E291D|PTOV1_ENST00000221557.9_Missense_Mutation_p.E259D|PTOV1_ENST00000601638.1_Missense_Mutation_p.E259D			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	291	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACCAGGGGGAGATCCTGTGAG	0.652																																						uc002pqf.1		NaN																	0					0						c.(871-873)GAG>GAC		prostate tumor overexpressed 1							52.0	52.0	52.0					19																	50361229		2203	4300	6503	SO:0001583	missense	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50361229G>C	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.873G>C	19.37:g.50361229G>C	ENSP00000472816:p.Glu291Asp					PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Missense_Mutation_p.E259D|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	p.E291D	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	8	1043	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	291			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	ENST00000601675.1	37	c.873G>C	CCDS12782.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928208	0.52759	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.86	3.86	0.44501	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	L	0.47716	1.5	0.36839	D	0.887283	D;P	0.54047	0.964;0.915	D;P	0.75484	0.986;0.863	T	0.71182	-0.4668	9	0.45353	T	0.12	-38.4442	11.473	0.50280	0.0:0.0:1.0:0.0	.	291;259	Q86YD1;Q86YD1-2	PTOV1_HUMAN;.	D	259;291	.	ENSP00000221557:E259D	E	+	3	2	PTOV1	55053041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.566000	0.53805	2.139000	0.66308	0.563000	0.77884	GAG		0.652	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1		NM_017432		4	123	0	0	0	0.009096	0	4	123		
TBC1D17	79735	broad.mit.edu	37	19	50387551	50387551	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387551G>C	ENST00000221543.5	+	11	1467	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	TBC1D17_ENST00000535102.2_Missense_Mutation_p.E357Q	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	390	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CAAGTTCTACGAGGGTCCCGA	0.632																																						uc002pqo.2		NaN																	0					0						c.(1168-1170)GAG>CAG		TBC1 domain family, member 17							105.0	111.0	109.0					19																	50387551		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50387551G>C	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1168G>C	19.37:g.50387551G>C	ENSP00000221543:p.Glu390Gln					TBC1D17_uc010ybg.1_Missense_Mutation_p.E357Q|TBC1D17_uc002pqp.2_Missense_Mutation_p.E41Q|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.E41Q|TBC1D17_uc002pqs.2_RNA	p.E390Q	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	11	1320	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	390			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1168G>C	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830077	0.50845	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.11495	2.77;2.77	5.39	4.32	0.51571	Rab-GAP/TBC domain (4);	0.144576	0.49305	D	0.000146	T	0.10895	0.0266	N	0.21142	0.635	0.41152	D	0.986038	P;B	0.44659	0.84;0.032	P;B	0.46049	0.502;0.101	T	0.18967	-1.0320	10	0.31617	T	0.26	-18.0345	14.0349	0.64638	0.0:0.1654:0.8346:0.0	.	357;390	F5H1W7;Q9HA65	.;TBC17_HUMAN	Q	390;357	ENSP00000221543:E390Q;ENSP00000446323:E357Q	ENSP00000221543:E390Q	E	+	1	0	TBC1D17	55079363	0.997000	0.39634	0.937000	0.37676	0.980000	0.70556	2.767000	0.47637	1.216000	0.43427	0.561000	0.74099	GAG		0.632	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1		NM_024682		44	310	0	0	0	0.010771	0	44	310		
TBC1D17	79735	broad.mit.edu	37	19	50387587	50387587	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387587G>A	ENST00000221543.5	+	11	1503	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D369N	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	402	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCTGCTGAACGATATCCTCCT	0.662																																						uc002pqo.2		NaN																	0					0						c.(1204-1206)GAT>AAT		TBC1 domain family, member 17							141.0	140.0	140.0					19																	50387587		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50387587G>A	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1204G>A	19.37:g.50387587G>A	ENSP00000221543:p.Asp402Asn					TBC1D17_uc010ybg.1_Missense_Mutation_p.D369N|TBC1D17_uc002pqp.2_Missense_Mutation_p.D53N|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.D53N|TBC1D17_uc002pqs.2_RNA	p.D402N	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	11	1356	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	402			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1204G>A	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025713	0.75390	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.03801	3.8;3.8	5.33	5.33	0.75918	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.31420	0.93	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.81914	0.995;0.844	T	0.32079	-0.9920	10	0.24483	T	0.36	-38.3084	16.4993	0.84253	0.0:0.0:1.0:0.0	.	369;402	F5H1W7;Q9HA65	.;TBC17_HUMAN	N	402;369	ENSP00000221543:D402N;ENSP00000446323:D369N	ENSP00000221543:D402N	D	+	1	0	TBC1D17	55079399	1.000000	0.71417	0.996000	0.52242	0.106000	0.19336	9.102000	0.94226	2.496000	0.84212	0.561000	0.74099	GAT		0.662	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1		NM_024682		64	400	0	0	0	0.01441	0	64	400		
TBC1D17	79735	broad.mit.edu	37	19	50387778	50387778	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:50387778G>C	ENST00000221543.5	+	12	1605	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	TBC1D17_ENST00000535102.2_Missense_Mutation_p.D403H	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	436	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GAACGAGGTGGATGCTTTCTG	0.592																																						uc002pqo.2		NaN																	0					0						c.(1306-1308)GAT>CAT		TBC1 domain family, member 17							190.0	187.0	188.0					19																	50387778		2203	4300	6503	SO:0001583	missense	79735					intracellular	Rab GTPase activator activity	g.chr19:50387778G>C	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1306G>C	19.37:g.50387778G>C	ENSP00000221543:p.Asp436His					TBC1D17_uc010ybg.1_Missense_Mutation_p.D403H|TBC1D17_uc002pqp.2_Missense_Mutation_p.D87H|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.D87H|TBC1D17_uc002pqs.2_RNA	p.D436H	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	12	1458	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	436			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1306G>C	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732729	0.89482	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.06068	3.35;3.35	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.057777	0.64402	D	0.000002	T	0.28234	0.0697	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.976	T	0.01566	-1.1323	10	0.48119	T	0.1	-24.082	16.2481	0.82460	0.0:0.0:1.0:0.0	.	403;436	F5H1W7;Q9HA65	.;TBC17_HUMAN	H	436;403	ENSP00000221543:D436H;ENSP00000446323:D403H	ENSP00000221543:D436H	D	+	1	0	TBC1D17	55079590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.097000	0.94193	2.424000	0.82194	0.561000	0.74099	GAT		0.592	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1		NM_024682		35	237	0	0	0	0.019004	0	35	237		
FPR1	2357	broad.mit.edu	37	19	52249881	52249881	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52249881G>A	ENST00000595042.1	-	3	508	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	FPR1_ENST00000304748.4_Missense_Mutation_p.R123C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	123					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAAACACAGCGGTCCAGAGCA	0.552																																						uc002pxq.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(367-369)CGC>TGC		formyl peptide receptor 1	Nedocromil(DB00716)						106.0	82.0	90.0					19																	52249881		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249881G>A	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.367C>T	19.37:g.52249881G>A	ENSP00000471493:p.Arg123Cys						p.R123C	NM_002029	NP_002020	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	2	462	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	123			Cytoplasmic (Potential).		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.367C>T	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	12.71	2.019018	0.35606	.	.	ENSG00000171051	ENST00000304748	D	0.97186	-4.28	3.66	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	D	0.97955	0.9327	H	0.95712	3.71	0.50039	D	0.999841	P	0.47191	0.891	P	0.50352	0.638	D	0.97504	1.0062	10	0.66056	D	0.02	.	9.6786	0.40056	0.1106:0.0:0.8894:0.0	.	123	P21462	FPR1_HUMAN	C	123	ENSP00000302707:R123C	ENSP00000302707:R123C	R	-	1	0	FPR1	56941693	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	3.158000	0.50723	0.814000	0.34374	-0.137000	0.14449	CGC		0.552	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1		NM_002029		39	79	0	0	0	0.005524	0	39	79		
ZNF649	65251	broad.mit.edu	37	19	52393957	52393957	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52393957G>A	ENST00000354957.3	-	5	1716	c.1432C>T	c.(1432-1434)Cat>Tat	p.H478Y	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.H450Y|ZNF577_ENST00000420592.1_5'Flank|ZNF577_ENST00000451628.2_5'Flank|ZNF577_ENST00000301399.5_5'Flank|ZNF577_ENST00000485702.1_5'Flank|ZNF577_ENST00000412216.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	478					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CCCTGCACATGTTCACTAGGA	0.463																																						uc002pxy.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1432-1434)CAT>TAT		zinc finger protein 649							205.0	174.0	184.0					19																	52393957		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52393957G>A	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1432C>T	19.37:g.52393957G>A	ENSP00000347043:p.His478Tyr					ZNF577_uc010ydd.1_5'Flank|ZNF577_uc002pxx.3_5'Flank|ZNF577_uc002pxv.2_5'Flank|ZNF577_uc002pxw.2_5'Flank|ZNF577_uc010yde.1_5'Flank|ZNF577_uc010ydf.1_Intron	p.H478Y	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1700	-		all_neural(266;0.0602)	478					A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.1432C>T	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.015976	0.00418	.	.	ENSG00000198093	ENST00000354957	T	0.05786	3.39	2.27	-3.09	0.05331	.	.	.	.	.	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.20384	0.029	T	0.43360	-0.9396	9	0.72032	D	0.01	.	1.0712	0.01622	0.2523:0.1732:0.3992:0.1753	.	478	Q9BS31	ZN649_HUMAN	Y	478	ENSP00000347043:H478Y	ENSP00000347043:H478Y	H	-	1	0	ZNF649	57085769	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.231000	0.02939	-0.499000	0.06623	0.404000	0.27445	CAT		0.463	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1		NM_023074		15	319	0	0	0	0.003163	0	15	319		
ZNF615	284370	broad.mit.edu	37	19	52507119	52507119	+	De_novo_Start_InFrame	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:52507119T>A	ENST00000602063.1	-	0	195				ZNF615_ENST00000597747.1_De_novo_Start_InFrame|ZNF615_ENST00000595114.1_5'UTR|ZNF615_ENST00000594083.1_De_novo_Start_InFrame|ZNF615_ENST00000391795.3_Intron|ZNF615_ENST00000376716.5_De_novo_Start_InFrame|ZNF615_ENST00000598071.1_De_novo_Start_InFrame			Q8N8J6	ZN615_HUMAN	zinc finger protein 615						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCCTCCTTCCTTCACTTGATT	0.428																																						uc002pye.1		NaN																	0				ovary(4)|skin(1)	5						c.(-156--152)GAAGG>GATGG		zinc finger protein 615																																						284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52507119T>A	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6			19.37:g.52507119T>A						ZNF615_uc002pyf.1_Translation_Start_Site|ZNF615_uc002pyg.1_Translation_Start_Site|ZNF615_uc002pyh.1_Translation_Start_Site|ZNF615_uc010epi.1_Intron|ZNF615_uc010ydg.1_Intron		NM_198480	NP_940882	Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	3	138	-		all_neural(266;0.117)						B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Translation_Start_Site	SNP	ENST00000602063.1	37	c.-154A>T	CCDS12846.1																																																																																				0.428	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1		NM_198480		4	14	0	0	0	0.009096	0	4	14		
ZNF816	125893	broad.mit.edu	37	19	53453850	53453850	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:53453850C>G	ENST00000357666.4	-	5	1478	c.1178G>C	c.(1177-1179)gGa>gCa	p.G393A	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.G393A	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	393					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)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						AGGTTTCTCTCCAGTGTGAAG	0.393																																						uc002qal.1		NaN																	0					0						c.(1177-1179)GGA>GCA		zinc finger protein 816A							134.0	134.0	134.0					19																	53453850		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53453850C>G	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.1178G>C	19.37:g.53453850C>G	ENSP00000350295:p.Gly393Ala					ZNF321_uc010eqj.2_Intron|ZNF321_uc002qak.1_Intron|ZNF816A_uc002qam.1_Missense_Mutation_p.G377A	p.G393A	NM_001031665	NP_001026835	Q0VGE8	ZN816_HUMAN		GBM - Glioblastoma multiforme(134;0.0313)	5	1479	-			393					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.1178G>C	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	14.05	2.419301	0.42918	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.01505	4.82;4.82	1.85	0.716	0.18191	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03477	0.0100	M	0.65320	2	0.80722	D	1	B	0.31989	0.35	B	0.41088	0.347	T	0.44097	-0.9350	9	0.66056	D	0.02	.	7.2197	0.25979	0.0:0.8438:0.0:0.1562	.	393	Q0VGE8	ZN816_HUMAN	A	393	ENSP00000350295:G393A;ENSP00000403266:G393A	ENSP00000350295:G393A	G	-	2	0	ZNF816	58145662	0.002000	0.14202	0.310000	0.25168	0.056000	0.15407	1.725000	0.38074	0.106000	0.17784	0.313000	0.20887	GGA		0.393	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1		NM_001031665		86	130	0	0	0	0.01441	0	86	130		
RPL28	6158	broad.mit.edu	37	19	55897738	55897738	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:55897738C>G	ENST00000344063.2	+	2	642	c.13C>G	c.(13-15)Ctg>Gtg	p.L5V	RPL28_ENST00000558131.1_Missense_Mutation_p.L5V|RPL28_ENST00000560583.1_Missense_Mutation_p.L5V|RPL28_ENST00000428193.2_Missense_Mutation_p.L5V|RPL28_ENST00000560055.1_Missense_Mutation_p.L5V|RPL28_ENST00000431533.2_Missense_Mutation_p.L5V|RPL28_ENST00000559463.1_Missense_Mutation_p.L5V|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000558752.1_Missense_Mutation_p.L5V|RPL28_ENST00000458349.2_Missense_Mutation_p.L5V|RPL28_ENST00000558815.1_Missense_Mutation_p.L5V			P46779	RL28_HUMAN	ribosomal protein L28	5					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTCTGCGCATCTGCAATGGAT	0.607																																						uc002qkv.2		NaN																	0					0						c.(13-15)CTG>GTG		ribosomal protein L28 isoform 2							35.0	34.0	34.0					19																	55897738		2203	4299	6502	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55897738C>G	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.13C>G	19.37:g.55897738C>G	ENSP00000342787:p.Leu5Val					uc002qku.2_5'Flank|RPL28_uc010yfz.1_Missense_Mutation_p.L5V|RPL28_uc010yfy.1_Missense_Mutation_p.L5V|RPL28_uc010yga.1_Missense_Mutation_p.L5V|RPL28_uc010ygb.1_Missense_Mutation_p.L5V|RPL28_uc002qkw.1_Missense_Mutation_p.L5V	p.L5V	NM_000991	NP_000982	P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	2	55	+	Breast(117;0.191)	Renal(1328;0.245)	5					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.13C>G	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869384	0.72065	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000428193;ENST00000431533;ENST00000458349	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	4.43	4.43	0.53597	.	0.089964	0.46145	D	0.000304	T	0.70753	0.3260	M	0.79258	2.445	0.51767	D	0.999937	D;D;P;D;P	0.69078	0.972;0.997;0.474;0.982;0.926	P;D;B;P;P	0.65573	0.841;0.936;0.296;0.662;0.754	T	0.73902	-0.3836	10	0.51188	T	0.08	.	15.3346	0.74241	0.0:1.0:0.0:0.0	.	5;5;5;5;5	B4DEP9;E9PB24;C9JB50;G5E9L2;P46779	.;.;.;.;RL28_HUMAN	V	5	ENSP00000342787:L5V;ENSP00000391665:L5V;ENSP00000400596:L5V;ENSP00000401450:L5V	ENSP00000342787:L5V	L	+	1	2	RPL28	60589550	0.849000	0.29639	0.985000	0.45067	0.981000	0.71138	1.455000	0.35190	2.406000	0.81754	0.655000	0.94253	CTG		0.607	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2		NM_000991		17	50	0	0	0	0.00499	0	17	50		
UBE2S	27338	broad.mit.edu	37	19	55918274	55918274	+	Silent	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:55918274C>A	ENST00000264552.9	-	2	247	c.60G>T	c.(58-60)gtG>gtT	p.V20V	UBE2S_ENST00000592570.1_5'Flank|UBE2S_ENST00000589978.1_Silent_p.V20V	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	20					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		TCAGTGTCGTCACCTCCTTGT	0.602																																						uc002qkx.1		NaN																	0					0						c.(58-60)GTG>GTT		ubiquitin-conjugating enzyme E2S							123.0	105.0	111.0					19																	55918274		2203	4300	6503	SO:0001819	synonymous_variant	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55918274C>A	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.60G>T	19.37:g.55918274C>A						uc002qky.2_5'Flank	p.V20V	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	2	428	-	Breast(117;0.155)		20					Q9BTC1	Silent	SNP	ENST00000264552.9	37	c.60G>T	CCDS33114.1																																																																																				0.602	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1		NM_014501		25	159	1	0	2.27525e-19	0.021523	3.18228e-19	25	159		
ZNF581	51545	broad.mit.edu	37	19	56156283	56156283	+	Nonsense_Mutation	SNP	G	G	T	rs373903483		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:56156283G>T	ENST00000587252.1	+	2	619	c.346G>T	c.(346-348)Gag>Tag	p.E116*	ZNF581_ENST00000588537.1_Nonsense_Mutation_p.E116*|ZNF581_ENST00000270451.5_Nonsense_Mutation_p.E116*			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AAAGCCCTTCGAGTGTGACAT	0.607																																						uc002qln.2		NaN																	0					0						c.(346-348)GAG>TAG		zinc finger protein 581							65.0	60.0	62.0					19																	56156283		2203	4300	6503	SO:0001587	stop_gained	51545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56156283G>T	AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"""Zinc fingers, C2H2-type"""	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.346G>T	19.37:g.56156283G>T	ENSP00000466047:p.Glu116*					ZNF581_uc002qlq.2_Nonsense_Mutation_p.E116*|CCDC106_uc002qlr.2_5'Flank	p.E116*	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	1062	+		Ovarian(87;0.133)	116			C2H2-type 2.		B2RDM6	Nonsense_Mutation	SNP	ENST00000587252.1	37	c.346G>T	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247064	0.95305	.	.	ENSG00000171425	ENST00000270451	.	.	.	4.01	0.538	0.17150	.	.	.	.	.	.	.	.	.	.	.	0.20563	N	0.999887	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	4.8948	0.13744	0.1975:0.0:0.633:0.1696	.	.	.	.	X	116	.	ENSP00000270451:E116X	E	+	1	0	ZNF581	60848095	0.000000	0.05858	0.001000	0.08648	0.936000	0.57629	0.156000	0.16382	0.089000	0.17243	0.407000	0.27541	GAG		0.607	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1		NM_016535		7	223	1	0	0.00307968	0.00308	0.00387534	7	223		
U2AF2	11338	broad.mit.edu	37	19	56175100	56175100	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:56175100C>G	ENST00000308924.4	+	7	772	c.732C>G	c.(730-732)gtC>gtG	p.V244V	CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Silent_p.V80V|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Silent_p.V244V			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	244					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ACCCCTCCGTCTATGTGCCTG	0.587																																						uc002qlu.2		NaN																	0				ovary(1)	1						c.(730-732)GTC>GTG		U2 (RNU2) small nuclear RNA auxiliary factor 2							110.0	97.0	102.0					19																	56175100		2203	4300	6503	SO:0001819	synonymous_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56175100C>G	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.732C>G	19.37:g.56175100C>G						U2AF2_uc002qlt.2_Silent_p.V244V	p.V244V	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	7	1787	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	244					Q96HC5	Silent	SNP	ENST00000308924.4	37	c.732C>G	CCDS12933.1																																																																																				0.587	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1		NM_007279		86	196	0	0	0	0.01441	0	86	196		
ZFP28	140612	broad.mit.edu	37	19	57058946	57058946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:57058946C>T	ENST00000301318.3	+	3	441	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	ZFP28_ENST00000591844.1_Nonsense_Mutation_p.Q124*|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	124	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GAACCCCATTCAGAGGAACTT	0.527																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2		NaN																	0				ovary(1)	1						c.(370-372)CAG>TAG		zinc finger protein 28							138.0	123.0	128.0					19																	57058946		2203	4300	6503	SO:0001587	stop_gained	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57058946C>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.370C>T	19.37:g.57058946C>T	ENSP00000301318:p.Gln124*					ZFP28_uc002qni.2_Nonsense_Mutation_p.Q124*|uc002qnk.1_Intron	p.Q124*	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	3	441	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	124			KRAB 1.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Nonsense_Mutation	SNP	ENST00000301318.3	37	c.370C>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149083	0.57151	.	.	ENSG00000196867	ENST00000301318	.	.	.	3.58	3.58	0.41010	.	0.000000	0.34555	N	0.003864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9527	0.41649	0.2034:0.7966:0.0:0.0	.	.	.	.	X	124	.	ENSP00000301318:Q124X	Q	+	1	0	ZFP28	61750758	0.987000	0.35691	0.032000	0.17829	0.002000	0.02628	2.990000	0.49401	1.994000	0.58287	0.563000	0.77884	CAG		0.527	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1		NM_020828		19	94	0	0	0	0.006122	0	19	94		
AURKC	6795	broad.mit.edu	37	19	57744973	57744973	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr19:57744973T>A	ENST00000302804.7	+	5	767	c.581T>A	c.(580-582)cTg>cAg	p.L194Q	AURKC_ENST00000598785.1_Missense_Mutation_p.L160Q|AURKC_ENST00000448930.1_Missense_Mutation_p.L160Q|AURKC_ENST00000415300.2_Missense_Mutation_p.L175Q|AURKC_ENST00000599062.1_Missense_Mutation_p.L191Q	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			SLR -> LPE (in Ref. 2; AAC77369). {ECO:0000305}.	attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACCCCCTCCCTGAGGTAGGTC	0.483																																						uc002qoe.2		NaN																	0				lung(4)|ovary(2)	6						c.(580-582)CTG>CAG		aurora kinase C isoform 1							103.0	90.0	94.0					19																	57744973		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57744973T>A		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.581T>A	19.37:g.57744973T>A	ENSP00000302898:p.Leu194Gln					AURKC_uc002qoc.2_Missense_Mutation_p.L175Q|AURKC_uc002qod.2_Missense_Mutation_p.L160Q|AURKC_uc010etv.2_Missense_Mutation_p.L191Q	p.L194Q	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	5	770	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	194	SLR -> LPE (in Ref. 2; AAC77369).		Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.581T>A	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	T	9.156	1.017552	0.19355	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.63913	-0.07;-0.07;-0.07	4.0	2.96	0.34315	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	N	0.11364	0.135	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.15484	0.013;0.006;0.012	T	0.24799	-1.0150	10	0.54805	T	0.06	-7.2185	9.0779	0.36534	0.0:0.0:0.1854:0.8146	.	191;194;175	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	Q	175;160;194	ENSP00000407162:L175Q;ENSP00000406798:L160Q;ENSP00000302898:L194Q	ENSP00000302898:L194Q	L	+	2	0	AURKC	62436785	0.022000	0.18835	0.654000	0.29608	0.615000	0.37417	1.876000	0.39588	0.856000	0.35383	0.454000	0.30748	CTG		0.483	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1		NM_003160		27	144	0	0	0	0.005443	0	27	144		
TPO	7173	broad.mit.edu	37	2	1481320	1481320	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:1481320T>A	ENST00000345913.4	+	8	1373	c.1282T>A	c.(1282-1284)Tgg>Agg	p.W428R	TPO_ENST00000329066.4_Missense_Mutation_p.W428R|TPO_ENST00000349624.3_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.W428R|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.W428R|TPO_ENST00000337415.3_Missense_Mutation_p.W428R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	428					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAATGCGCACTGGAGCGCGGA	0.741																																						uc002qww.2		NaN																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(1282-1284)TGG>AGG		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						3.0	3.0	3.0					2																	1481320		1780	3601	5381	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1481320T>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1282T>A	2.37:g.1481320T>A	ENSP00000318820:p.Trp428Arg					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.W428R|TPO_uc002qwr.2_Missense_Mutation_p.W428R|TPO_uc002qwx.2_Missense_Mutation_p.W428R|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.W428R	p.W428R	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	1373	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	428			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.1282T>A	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.7|24.7	4.556803|4.556803	0.86231|0.86231	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000536482|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	.|T;T;T;T;T;T	.|0.77877	.|-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.123185	.|0.64402	.|D	.|0.000011	D|D	0.90424|0.90424	0.7002|0.7002	M|M	0.93978|0.93978	3.48|3.48	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.997;0.999;0.998	.|D;D;D	.|0.72625	.|0.963;0.973;0.978	D|D	0.92912|0.92912	0.6348|0.6348	6|10	0.87932|0.87932	D|D	0|0	-9.5955|-9.5955	14.2977|14.2977	0.66325|0.66325	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|428;428;428	.|P07202-4;P07202-2;P07202	.|.;.;PERT_HUMAN	Q|R	111|428;428;428;428;428;357	.|ENSP00000337263:W428R;ENSP00000318820:W428R;ENSP00000263886:W428R;ENSP00000329869:W428R;ENSP00000371636:W428R;ENSP00000405788:W357R	ENSP00000439133:L111Q|ENSP00000329869:W428R	L|W	+|+	2|1	0|0	TPO|TPO	1460327|1460327	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.941000|0.941000	0.58515|0.58515	7.689000|7.689000	0.84165|0.84165	1.786000|1.786000	0.52430|0.52430	0.377000|0.377000	0.23210|0.23210	CTG|TGG		0.741	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2		NM_000547		7	9	0	0	0	0.00308	0	7	9		
C2orf44	80304	broad.mit.edu	37	2	24261333	24261333	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:24261333C>G	ENST00000295148.4	-	2	1089	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	C2orf44_ENST00000406895.3_Silent_p.L344L	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	344									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATGCTATCAGATCAGGAA	0.418			T	ALK	NSCLC																																	uc002rep.2		NaN		Dom	yes		2	2p23.3	80304		chromosome 2 open reading frame 44			E					0				ovary(1)|breast(1)	2						c.(1030-1032)CTG>CTC		hypothetical protein LOC80304 isoform 1							57.0	56.0	56.0					2																	24261333		2203	4298	6501	SO:0001819	synonymous_variant	80304						protein binding	g.chr2:24261333C>G	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1032G>C	2.37:g.24261333C>G						C2orf44_uc010eya.2_Silent_p.L344L	p.L344L	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN			2	1163	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		344					D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	c.1032G>C	CCDS1705.1																																																																																				0.418	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1		NM_025203		4	93	0	0	0	0.009096	0	4	93		
ADCY3	109	broad.mit.edu	37	2	25141819	25141819	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:25141819G>A	ENST00000260600.5	-	1	889	c.38C>T	c.(37-39)tCg>tTg	p.S13L		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	13					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					gtactcggccgagtattcggG	0.642																																						uc002rfs.3		NaN																	0				breast(3)|ovary(1)	4						c.(37-39)TCG>TTG		adenylate cyclase 3							8.0	11.0	10.0					2																	25141819		2174	4255	6429	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141819G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.38C>T	2.37:g.25141819G>A	ENSP00000260600:p.Ser13Leu					ADCY3_uc010ykm.1_Missense_Mutation_p.S13L	p.S13L	NM_004036	NP_004027	O60266	ADCY3_HUMAN			1	237	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		13			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.38C>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945024	0.92593	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	D;T;T	0.81499	-1.5;-1.26;0.43	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000002	D	0.85375	0.5682	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	D	0.87284	0.2294	10	0.87932	D	0	.	15.1788	0.72938	0.0:0.0:1.0:0.0	.	13;13	B7ZLX9;O60266	.;ADCY3_HUMAN	L	13	ENSP00000260600:S13L;ENSP00000389799:S13L;ENSP00000406153:S13L	ENSP00000260600:S13L	S	-	2	0	ADCY3	24995323	1.000000	0.71417	0.984000	0.44739	0.875000	0.50365	7.267000	0.78462	2.145000	0.66743	0.467000	0.42956	TCG		0.642	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2				4	21	0	0	0	0.014758	0	4	21		
OTOF	9381	broad.mit.edu	37	2	26706369	26706369	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:26706369G>C	ENST00000272371.2	-	13	1479	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L	OTOF_ENST00000403946.3_Silent_p.L451L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	451	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGGTCCACGAGGTCCTTGT	0.537																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2		NaN																	0				ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1351-1353)CTC>CTG		otoferlin isoform a							92.0	80.0	84.0					2																	26706369		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706369G>C	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1353C>G	2.37:g.26706369G>C							p.L451L	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1480	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		451			Cytoplasmic (Potential).|C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1353C>G	CCDS1725.1																																																																																				0.537	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3				15	92	0	0	0	0.003163	0	15	92		
C2orf16	84226	broad.mit.edu	37	2	27804486	27804486	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:27804486G>C	ENST00000408964.2	+	1	5098	c.5047G>C	c.(5047-5049)Gag>Cag	p.E1683Q	ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1683	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CGGTCCCTCAGAGAGAAGCCA	0.567																																						uc002rkz.3		NaN																	0				large_intestine(1)	1						c.(5047-5049)GAG>CAG		hypothetical protein LOC84226							147.0	151.0	150.0					2																	27804486		1910	4123	6033	SO:0001583	missense	84226							g.chr2:27804486G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5047G>C	2.37:g.27804486G>C	ENSP00000386190:p.Glu1683Gln					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.E1683Q	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5098	+	Acute lymphoblastic leukemia(172;0.155)		1683			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|7.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5047G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	g	2.934	-0.220306	0.06061	.	.	ENSG00000221843	ENST00000408964	T	0.05717	3.4	3.19	-2.42	0.06542	.	.	.	.	.	T	0.05044	0.0135	L	0.49350	1.555	0.09310	N	1	B	0.29432	0.244	B	0.22880	0.042	T	0.40701	-0.9549	9	0.23891	T	0.37	.	4.8207	0.13389	0.2987:0.2792:0.4221:0.0	.	1683	Q68DN1	CB016_HUMAN	Q	1683	ENSP00000386190:E1683Q	ENSP00000386190:E1683Q	E	+	1	0	C2orf16	27657990	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.065000	0.03458	-0.583000	0.05921	-0.355000	0.07637	GAG		0.567	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1		NM_032266		11	342	0	0	0	0.010729	0	11	342		
BIRC6	57448	broad.mit.edu	37	2	32743962	32743962	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743962C>T	ENST00000421745.2	+	57	11706	c.11572C>T	c.(11572-11574)Ctt>Ttt	p.L3858F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3858					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.L3830I(1)|p.L3858I(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATTCCGTACTCTTCATTTGCC	0.368																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11572-11574)CTT>TTT		baculoviral IAP repeat-containing 6							91.0	85.0	87.0					2																	32743962		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32743962C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11572C>T	2.37:g.32743962C>T	ENSP00000393596:p.Leu3858Phe						p.L3858F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			57	11706	+	Acute lymphoblastic leukemia(172;0.155)		3858					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11572C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385503	0.82792	.	.	ENSG00000115760	ENST00000421745	D	0.81821	-1.54	5.44	5.44	0.79542	.	0.070237	0.64402	D	0.000019	D	0.84447	0.5474	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.82806	-0.0275	10	0.32370	T	0.25	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	3858	Q9NR09	BIRC6_HUMAN	F	3858	ENSP00000393596:L3858F	ENSP00000393596:L3858F	L	+	1	0	BIRC6	32597466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.537000	0.85549	0.655000	0.94253	CTT		0.368	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		7	36	0	0	0	0.004482	0	7	36		
BIRC6	57448	broad.mit.edu	37	2	32743965	32743965	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743965C>T	ENST00000421745.2	+	57	11709	c.11575C>T	c.(11575-11577)Cat>Tat	p.H3859Y		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3859					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCGTACTCTTCATTTGCCAGT	0.363																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11575-11577)CAT>TAT		baculoviral IAP repeat-containing 6							90.0	84.0	86.0					2																	32743965		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32743965C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11575C>T	2.37:g.32743965C>T	ENSP00000393596:p.His3859Tyr						p.H3859Y	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			57	11709	+	Acute lymphoblastic leukemia(172;0.155)		3859					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11575C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970397	0.34754	.	.	ENSG00000115760	ENST00000421745	T	0.72167	-0.63	5.44	5.44	0.79542	.	0.059885	0.64402	D	0.000005	T	0.57932	0.2087	L	0.29908	0.895	0.80722	D	1	B	0.26445	0.149	B	0.25884	0.064	T	0.56798	-0.7919	10	0.02654	T	1	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	3859	Q9NR09	BIRC6_HUMAN	Y	3859	ENSP00000393596:H3859Y	ENSP00000393596:H3859Y	H	+	1	0	BIRC6	32597469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.656000	0.67988	2.537000	0.85549	0.655000	0.94253	CAT		0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		7	36	0	0	0	0.004482	0	7	36		
BIRC6	57448	broad.mit.edu	37	2	32743998	32743998	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:32743998C>G	ENST00000421745.2	+	57	11742	c.11608C>G	c.(11608-11610)Ctt>Gtt	p.L3870V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3870					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCAGATGTTCTTGACAGAGT	0.348																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(11608-11610)CTT>GTT		baculoviral IAP repeat-containing 6							78.0	72.0	74.0					2																	32743998		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32743998C>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11608C>G	2.37:g.32743998C>G	ENSP00000393596:p.Leu3870Val						p.L3870V	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			57	11742	+	Acute lymphoblastic leukemia(172;0.155)		3870					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.11608C>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177621	0.78564	.	.	ENSG00000115760	ENST00000421745	T	0.81163	-1.46	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	D	0.85071	0.5613	L	0.32530	0.975	0.58432	D	0.999999	P	0.52842	0.956	D	0.65010	0.931	D	0.86612	0.1873	10	0.87932	D	0	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	3870	Q9NR09	BIRC6_HUMAN	V	3870	ENSP00000393596:L3870V	ENSP00000393596:L3870V	L	+	1	0	BIRC6	32597502	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	4.653000	0.61462	2.537000	0.85549	0.655000	0.94253	CTT		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		5	27	0	0	0	0.014758	0	5	27		
PRKD3	23683	broad.mit.edu	37	2	37505009	37505009	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:37505009C>G	ENST00000379066.1	-	9	2058	c.1296G>C	c.(1294-1296)ctG>ctC	p.L432L	PRKD3_ENST00000234179.2_Splice_Site_p.L432L			O94806	KPCD3_HUMAN	protein kinase D3	432	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GATTACTGACCAGGTTATCCC	0.378																																					Melanoma(80;621 1355 8613 11814 51767)	uc002rqd.2		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1294-1296)CTG>CTC		protein kinase D3							261.0	219.0	233.0					2																	37505009		2203	4300	6503	SO:0001630	splice_region_variant	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37505009C>G	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.1296+1G>C	2.37:g.37505009C>G						PRKD3_uc002rqe.1_Silent_p.L32L|PRKD3_uc002rqf.1_Silent_p.L432L	p.L432L	NM_005813	NP_005804	O94806	KPCD3_HUMAN			8	1851	-		all_hematologic(82;0.21)	432			PH.		D6W587|Q53TR7|Q8NEL8	Silent	SNP	ENST00000379066.1	37	c.1296G>C	CCDS1789.1																																																																																				0.378	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3		NM_005813	Silent	36	83	0	0	0	0.005524	0	36	83		
PLEKHH2	130271	broad.mit.edu	37	2	43953483	43953483	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:43953483G>C	ENST00000282406.4	+	17	2724	c.2614G>C	c.(2614-2616)Gat>Cat	p.D872H		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	872	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTCAGATGAAGATTATGAAGC	0.398																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(2614-2616)GAT>CAT		pleckstrin homology domain containing, family H							111.0	105.0	107.0					2																	43953483		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43953483G>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2614G>C	2.37:g.43953483G>C	ENSP00000282406:p.Asp872His					PLEKHH2_uc002rtf.3_Missense_Mutation_p.D871H	p.D872H	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			17	2697	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	872			PH 2.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2614G>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224762	0.79576	.	.	ENSG00000152527	ENST00000282406	T	0.74842	-0.88	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.101143	0.64402	D	0.000004	D	0.85066	0.5612	L	0.56769	1.78	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.85916	0.1443	10	0.87932	D	0	-22.2231	19.5645	0.95388	0.0:0.0:1.0:0.0	.	872;309	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	H	872	ENSP00000282406:D872H	ENSP00000282406:D872H	D	+	1	0	PLEKHH2	43806987	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.071000	0.71229	2.599000	0.87857	0.650000	0.86243	GAT		0.398	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		3	51	0	0	0	0.004672	0	3	51		
SIX3	6496	broad.mit.edu	37	2	45171878	45171878	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:45171878C>G	ENST00000260653.3	+	2	1320	c.978C>G	c.(976-978)agC>agG	p.S326R	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	326					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAACCTCCAGCGACTCGGAAT	0.672																																						uc002run.1		NaN																	0					0						c.(976-978)AGC>AGG		SIX homeobox 3							21.0	22.0	21.0					2																	45171878		2080	4076	6156	SO:0001583	missense	6496				visual perception	nucleus		g.chr2:45171878C>G	AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.978C>G	2.37:g.45171878C>G	ENSP00000260653:p.Ser326Arg						p.S326R	NM_005413	NP_005404	O95343	SIX3_HUMAN			2	1185	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	326					D6W5A5|Q53T42	Missense_Mutation	SNP	ENST00000260653.3	37	c.978C>G	CCDS1821.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208668	0.58343	.	.	ENSG00000138083	ENST00000260653	D	0.92965	-3.14	3.37	3.37	0.38596	.	0.371203	0.26089	U	0.026418	D	0.94535	0.8240	L	0.59436	1.845	0.51233	D	0.999915	D	0.89917	1.0	D	0.91635	0.999	D	0.94866	0.8026	10	0.87932	D	0	.	13.5119	0.61517	0.0:1.0:0.0:0.0	.	326	O95343	SIX3_HUMAN	R	326	ENSP00000260653:S326R	ENSP00000260653:S326R	S	+	3	2	SIX3	45025382	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	2.776000	0.47709	1.417000	0.47077	0.163000	0.16589	AGC		0.672	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326192.1		NM_005413		3	9	0	0	0	0.009096	0	3	9		
PAIP2B	400961	broad.mit.edu	37	2	71415650	71415650	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:71415650T>C	ENST00000244221.8	-	4	497	c.331A>G	c.(331-333)Aac>Gac	p.N111D		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	111					negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)	translation repressor activity, nucleic acid binding (GO:0000900)			large_intestine(1)|lung(1)	2						GCATCTGGGTTCAGGTTACTT	0.433																																						uc002shu.2		NaN																	0					0						c.(331-333)AAC>GAC		poly(A) binding protein interacting protein 2B							76.0	70.0	72.0					2																	71415650		1848	4115	5963	SO:0001583	missense	400961				negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding	g.chr2:71415650T>C		CCDS46322.1	2p13.3	2007-07-16			ENSG00000124374	ENSG00000124374			29200	protein-coding gene	gene with protein product		611018				16804161	Standard	NM_020459		Approved	KIAA1155	uc002shu.2	Q9ULR5	OTTHUMG00000153284	ENST00000244221.8:c.331A>G	2.37:g.71415650T>C	ENSP00000244221:p.Asn111Asp						p.N111D	NM_020459	NP_065192	Q9ULR5	PAI2B_HUMAN			4	518	-			111						Missense_Mutation	SNP	ENST00000244221.8	37	c.331A>G	CCDS46322.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479083	0.84747	.	.	ENSG00000124374	ENST00000244221	.	.	.	5.4	5.4	0.78164	Ataxin-2, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	M	0.65975	2.015	0.80722	D	1	P	0.50819	0.939	P	0.48770	0.589	T	0.68977	-0.5267	9	0.72032	D	0.01	-16.3078	13.3862	0.60797	0.0:0.0:0.0:1.0	.	111	Q9ULR5	PAI2B_HUMAN	D	111	.	ENSP00000244221:N111D	N	-	1	0	PAIP2B	71269158	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.321000	0.79088	2.039000	0.60335	0.377000	0.23210	AAC		0.433	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330547.2		XM_376062		3	21	0	0	0	0.004672	0	3	21		
RAB11FIP5	26056	broad.mit.edu	37	2	73316194	73316194	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:73316194C>G	ENST00000258098.6	-	2	921	c.681G>C	c.(679-681)aaG>aaC	p.K227N	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	227					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTGCCCATCTTGCCCAGGC	0.587																																						uc002siu.3		NaN																	0					0						c.(679-681)AAG>AAC		RAB11 family interacting protein 5 (class I)							149.0	134.0	139.0					2																	73316194		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73316194C>G	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.681G>C	2.37:g.73316194C>G	ENSP00000258098:p.Lys227Asn					RAB11FIP5_uc002sit.3_Missense_Mutation_p.K149N	p.K227N	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			2	922	-			227					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.681G>C	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.862130	0.51482	.	.	ENSG00000135631	ENST00000258098	T	0.60040	0.22	4.84	3.85	0.44370	.	0.118979	0.56097	D	0.000035	T	0.49029	0.1533	L	0.41492	1.28	0.42295	D	0.992159	B;P	0.43477	0.361;0.808	B;B	0.41135	0.136;0.348	T	0.52771	-0.8531	10	0.52906	T	0.07	-13.6091	11.907	0.52717	0.0:0.9068:0.0:0.0932	.	227;227	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	N	227	ENSP00000258098:K227N	ENSP00000258098:K227N	K	-	3	2	RAB11FIP5	73169702	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.188000	0.42612	1.247000	0.43917	0.561000	0.74099	AAG		0.587	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1		NM_015470		31	134	0	0	0	0.009535	0	31	134		
SEMA4F	10505	broad.mit.edu	37	2	74900804	74900804	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:74900804C>T	ENST00000357877.2	+	7	820	c.671C>T	c.(670-672)gCc>gTc	p.A224V	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	224	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTATTCCCAGCCCCAGCCTTT	0.592																																						uc002sna.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(670-672)GCC>GTC		semaphorin W precursor							59.0	58.0	58.0					2																	74900804		2203	4300	6503	SO:0001630	splice_region_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74900804C>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.671-1C>T	2.37:g.74900804C>T						SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc010ffq.1_Missense_Mutation_p.A191V|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	p.A224V	NM_004263	NP_004254	O95754	SEM4F_HUMAN			7	782	+			224			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	c.671C>T	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.182373	0.57800	.	.	ENSG00000135622	ENST00000357877	T	0.32753	1.44	4.79	4.79	0.61399	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.071383	0.56097	D	0.000033	T	0.29556	0.0737	L	0.55213	1.73	0.80722	D	1	B	0.17465	0.022	B	0.18263	0.021	T	0.05468	-1.0883	9	.	.	.	.	13.6891	0.62535	0.0:1.0:0.0:0.0	.	224	O95754	SEM4F_HUMAN	V	224	ENSP00000350547:A224V	.	A	+	2	0	SEMA4F	74754312	0.895000	0.30542	1.000000	0.80357	0.802000	0.45316	1.628000	0.37060	2.371000	0.80710	0.462000	0.41574	GCC		0.592	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2		NM_004263	Missense_Mutation	28	57	0	0	0	0.005443	0	28	57		
TACR1	6869	broad.mit.edu	37	2	75425676	75425676	+	Missense_Mutation	SNP	C	C	G	rs77755890		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:75425676C>G	ENST00000305249.5	-	1	1150	c.385G>C	c.(385-387)Gat>Cat	p.D129H	TACR1_ENST00000409848.3_Missense_Mutation_p.D129H	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	129					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCTCACCTATCAAAGGCCACA	0.512																																					Pancreas(64;62 1268 3653 14826 43765)	uc002sng.2		NaN																	0				ovary(1)	1						c.(385-387)GAT>CAT		tachykinin receptor 1 isoform long	Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)						87.0	86.0	86.0					2																	75425676		2203	4300	6503	SO:0001583	missense	6869				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding	g.chr2:75425676C>G	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.385G>C	2.37:g.75425676C>G	ENSP00000303522:p.Asp129His					TACR1_uc002snh.2_Missense_Mutation_p.D129H	p.D129H	NM_001058	NP_001049	P25103	NK1R_HUMAN			1	970	-			129			Cytoplasmic (Potential).		A8K150	Missense_Mutation	SNP	ENST00000305249.5	37	c.385G>C	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193320	0.78902	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	D;D	0.85861	-2.04;-2.04	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	M	0.93594	3.435	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	D	0.95125	0.8250	10	0.87932	D	0	.	16.7297	0.85431	0.0:1.0:0.0:0.0	.	129	P25103	NK1R_HUMAN	H	129	ENSP00000303522:D129H;ENSP00000386448:D129H	ENSP00000303522:D129H	D	-	1	0	TACR1	75279184	1.000000	0.71417	0.923000	0.36655	0.814000	0.46013	7.604000	0.82830	2.798000	0.96311	0.655000	0.94253	GAT		0.512	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3		NM_001058		7	103	0	0	0	0.001984	0	7	103		
REG1A	5967	broad.mit.edu	37	2	79347991	79347991	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:79347991G>T	ENST00000233735.1	+	2	107	c.4G>T	c.(4-6)Gct>Tct	p.A2S		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	2					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GCTCAGCATGGCTCAGACCAG	0.473																																						uc002snz.2		NaN																	0					0						c.(4-6)GCT>TCT		regenerating islet-derived 1 alpha precursor							113.0	94.0	100.0					2																	79347991		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79347991G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.4G>T	2.37:g.79347991G>T	ENSP00000233735:p.Ala2Ser					REG1A_uc010ffx.1_Missense_Mutation_p.A2S|REG1A_uc010ysd.1_Missense_Mutation_p.A2S	p.A2S	NM_002909	NP_002900	P05451	REG1A_HUMAN			2	107	+			2					P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.4G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	13.59	2.281222	0.40394	.	.	ENSG00000115386	ENST00000233735	T	0.05139	3.49	3.08	1.18	0.20946	.	1.111280	0.07108	N	0.841683	T	0.07999	0.0200	L	0.54323	1.7	0.09310	N	1	P;P	0.48294	0.908;0.793	B;B	0.41860	0.368;0.283	T	0.35425	-0.9789	10	0.44086	T	0.13	.	5.4393	0.16498	0.2782:0.0:0.7218:0.0	.	2;2	A8K7G6;P05451	.;REG1A_HUMAN	S	2	ENSP00000233735:A2S	ENSP00000233735:A2S	A	+	1	0	REG1A	79201499	0.023000	0.18921	0.004000	0.12327	0.070000	0.16714	0.732000	0.26072	0.297000	0.22615	0.557000	0.71058	GCT		0.473	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1		NM_002909		5	48	1	0	5.9392e-07	0.001168	7.88086e-07	5	48		
POLR1A	25885	broad.mit.edu	37	2	86280076	86280076	+	Silent	SNP	C	C	T	rs372234146		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:86280076C>T	ENST00000263857.6	-	16	2634	c.2256G>A	c.(2254-2256)gcG>gcA	p.A752A	POLR1A_ENST00000483538.1_5'Flank|POLR1A_ENST00000409681.1_Silent_p.A752A			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	752					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCCATAGTGCGCCTTGTCCA	0.632																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(2254-2256)GCG>GCA		DNA-directed RNA polymerase I A		C		0,4138		0,0,2069	31.0	35.0	34.0		2256	-9.9	0.1	2		34	1,8429		0,1,4214	no	coding-synonymous	POLR1A	NM_015425.3		0,1,6283	TT,TC,CC		0.0119,0.0,0.0080		752/1721	86280076	1,12567	2069	4215	6284	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86280076C>T	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2256G>A	2.37:g.86280076C>T						POLR1A_uc010ytb.1_Silent_p.A118A	p.A752A	NM_015425	NP_056240	O95602	RPA1_HUMAN			16	2635	-			752					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.2256G>A	CCDS42706.1																																																																																				0.632	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		28	39	0	0	0	0.007291	0	28	39		
RPIA	22934	broad.mit.edu	37	2	89034118	89034118	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:89034118T>C	ENST00000283646.4	+	5	567	c.512T>C	c.(511-513)cTc>cCc	p.L171P		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	171					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GATCTCAATCTCATCAAGGGT	0.463																																						uc002ste.2		NaN																	0				ovary(1)	1						c.(511-513)CTC>CCC		ribose 5-phosphate isomerase A							134.0	130.0	131.0					2																	89034118		1958	4149	6107	SO:0001583	missense	22934				pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity	g.chr2:89034118T>C	L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.512T>C	2.37:g.89034118T>C	ENSP00000283646:p.Leu171Pro						p.L171P	NM_144563	NP_653164	P49247	RPIA_HUMAN			5	553	+		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)	171					Q541P9|Q96BJ6	Missense_Mutation	SNP	ENST00000283646.4	37	c.512T>C	CCDS2004.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038701	0.75617	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.80214	-1.35	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	H	0.96691	3.865	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.95218	0.8331	10	0.72032	D	0.01	-19.8597	16.0774	0.80976	0.0:0.0:0.0:1.0	.	171	P49247	RPIA_HUMAN	P	171;37	ENSP00000283646:L171P	ENSP00000283646:L171P	L	+	2	0	RPIA	88815233	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.020000	0.76419	2.279000	0.76181	0.533000	0.62120	CTC		0.463	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252683.2				31	62	0	0	0	0.009535	0	31	62		
GPAT2	150763	broad.mit.edu	37	2	96687951	96687951	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:96687951G>C	ENST00000434632.1	-	23	2803	c.2344C>G	c.(2344-2346)Cag>Gag	p.Q782E	GPAT2_ENST00000453542.1_Missense_Mutation_p.Q711E|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_3'UTR|GPAT2_ENST00000359548.4_Missense_Mutation_p.Q782E			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	782					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AGTTTTTCCTGATTGTCCAGG	0.562																																						uc002svf.2		NaN																	0					0						c.(2344-2346)CAG>GAG		glycerol-3-phosphate acyltransferase 2,							33.0	31.0	32.0					2																	96687951		1838	4099	5937	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96687951G>C	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2344C>G	2.37:g.96687951G>C	ENSP00000389395:p.Gln782Glu					LOC729234_uc010fht.2_Intron|GPAT2_uc002svd.2_Missense_Mutation_p.Q601E|GPAT2_uc002sve.2_Missense_Mutation_p.Q584E|GPAT2_uc002svg.2_Missense_Mutation_p.Q661E|GPAT2_uc010yuh.1_Missense_Mutation_p.Q711E|GPAT2_uc002svh.2_3'UTR	p.Q782E	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN			22	2567	-			782					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2344C>G	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	14.04	2.418166	0.42918	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542	T;T;T	0.76968	-1.06;-1.06;-0.07	4.97	4.97	0.65823	.	.	.	.	.	T	0.81833	0.4906	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.50943	0.917;0.874;0.94;0.811	P;B;P;P	0.60682	0.878;0.443;0.546;0.83	T	0.82333	-0.0509	9	0.52906	T	0.07	-23.0111	14.0876	0.64968	0.0:0.0:1.0:0.0	.	711;788;782;711	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;GPAT2_HUMAN;.	E	782;782;711	ENSP00000352547:Q782E;ENSP00000389395:Q782E;ENSP00000393770:Q711E	ENSP00000352547:Q782E	Q	-	1	0	GPAT2	96051678	0.966000	0.33281	0.985000	0.45067	0.107000	0.19398	3.479000	0.53165	2.476000	0.83614	0.637000	0.83480	CAG		0.562	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1		NM_207328		16	25	0	0	0	0.008871	0	16	25		
REV1	51455	broad.mit.edu	37	2	100020219	100020219	+	Silent	SNP	C	C	T	rs183307465	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:100020219C>T	ENST00000258428.3	-	19	3333	c.3105G>A	c.(3103-3105)gcG>gcA	p.A1035A	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Silent_p.A1034A|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1035					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.A1035A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTGATCATACGCTGCTTTCA	0.498								Direct reversal of damage																														uc002tad.2		NaN																	1	Substitution - coding silent(1)	p.A1035A(1)	ovary(1)	ovary(2)	2						c.(3103-3105)GCG>GCA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							114.0	104.0	107.0					2																	100020219		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100020219C>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3105G>A	2.37:g.100020219C>T						REV1_uc002tac.2_Silent_p.A1034A	p.A1035A	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			19	3317	-			1035					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.3105G>A	CCDS2045.1																																																																																				0.498	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2		NM_016316		54	70	0	0	0	0.01441	0	54	70		
IL18R1	8809	broad.mit.edu	37	2	102984374	102984374	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:102984374G>A	ENST00000409599.1	+	4	504	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	IL18R1_ENST00000334376.3_Missense_Mutation_p.E50K|IL18R1_ENST00000233957.1_Missense_Mutation_p.E50K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	50	Ig-like C2-type 1.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.E50K(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACATGAGATTGAAACAACCAC	0.428																																						uc002tbw.3		NaN																	1	Substitution - Missense(1)	p.E50K(1)	ovary(1)	ovary(2)|pancreas(1)	3						c.(148-150)GAA>AAA		interleukin 18 receptor 1 precursor							127.0	119.0	122.0					2																	102984374		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102984374G>A	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.148G>A	2.37:g.102984374G>A	ENSP00000387211:p.Glu50Lys					IL18R1_uc010ywb.1_Missense_Mutation_p.E50K|IL18R1_uc010ywc.1_Missense_Mutation_p.E50K|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.E50K	p.E50K	NM_003855	NP_003846	Q13478	IL18R_HUMAN			3	298	+			50			Ig-like C2-type 1.|Extracellular (Potential).		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.148G>A	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	6.300	0.423449	0.11928	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.23	-2.35	0.06684	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.535540	0.03512	N	0.219759	T	0.24851	0.0603	L	0.36672	1.1	0.09310	N	1	B;B;B	0.17038	0.002;0.02;0.002	B;B;B	0.15484	0.004;0.013;0.004	T	0.08086	-1.0739	10	0.06494	T	0.89	.	1.1998	0.01882	0.4375:0.1533:0.2534:0.1558	.	50;50;50	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	K	50	ENSP00000386663:E50K;ENSP00000387211:E50K;ENSP00000233957:E50K;ENSP00000334030:E50K	ENSP00000233957:E50K	E	+	1	0	IL18R1	102350806	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.520000	0.06252	-0.265000	0.09352	0.563000	0.77884	GAA		0.428	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2		NM_003855		4	45	0	0	0	0.009096	0	4	45		
SLC9A4	389015	broad.mit.edu	37	2	103119941	103119941	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:103119941T>G	ENST00000295269.4	+	3	1212	c.755T>G	c.(754-756)aTg>aGg	p.M252R		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	252					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTTACAAAGATGCATAAATTT	0.373																																						uc002tbz.3		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(754-756)ATG>AGG		solute carrier family 9 (sodium/hydrogen							202.0	186.0	191.0					2																	103119941		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103119941T>G		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.755T>G	2.37:g.103119941T>G	ENSP00000295269:p.Met252Arg						p.M252R	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			3	1212	+			252			Extracellular (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.755T>G	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.397578	0.83120	.	.	ENSG00000180251	ENST00000295269	T	0.45668	0.89	5.61	5.61	0.85477	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.40791	0.1131	L	0.57130	1.785	0.58432	D	0.999999	P	0.43314	0.803	B	0.37304	0.246	T	0.35276	-0.9795	10	0.39692	T	0.17	.	16.1025	0.81194	0.0:0.0:0.0:1.0	.	252	Q6AI14	SL9A4_HUMAN	R	252	ENSP00000295269:M252R	ENSP00000295269:M252R	M	+	2	0	SLC9A4	102486373	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.965000	0.87945	2.254000	0.74563	0.533000	0.62120	ATG		0.373	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1		NM_001011552.3		5	31	0	0	0	0.014758	0	5	31		
GCC2	9648	broad.mit.edu	37	2	109087478	109087478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:109087478C>T	ENST00000309863.6	+	6	2407	c.1693C>T	c.(1693-1695)Caa>Taa	p.Q565*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	565					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGAACCTTCAAGAAAAGAA	0.348																																						uc002tec.2		NaN																	0				ovary(1)	1						c.(1693-1695)CAA>TAA		GRIP and coiled-coil domain-containing 2							28.0	30.0	29.0					2																	109087478		2082	4240	6322	SO:0001587	stop_gained	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087478C>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1693C>T	2.37:g.109087478C>T	ENSP00000307939:p.Gln565*					GCC2_uc002ted.2_Nonsense_Mutation_p.Q464*	p.Q565*	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	1847	+			565			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	ENST00000309863.6	37	c.1693C>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898731	0.52227	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.62	2.82	0.32997	.	0.462508	0.23616	N	0.046285	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	13.5007	0.61454	0.3054:0.5946:0.1:0.0	.	.	.	.	X	565;528;310	.	ENSP00000307939:Q565X	Q	+	1	0	GCC2	108453910	0.972000	0.33761	0.972000	0.41901	0.293000	0.27360	0.381000	0.20619	0.102000	0.17638	-0.810000	0.03169	CAA		0.348	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		7	29	0	0	0	0.001984	0	7	29		
UGGT1	56886	broad.mit.edu	37	2	128913070	128913070	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:128913070C>T	ENST00000259253.6	+	20	2192	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	UGGT1_ENST00000375990.3_Silent_p.F691F	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	715					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGATAACTTCTTTGTGGATG	0.323																																						uc002tps.2		NaN																	0				ovary(1)	1						c.(2143-2145)TTC>TTT		UDP-glucose ceramide glucosyltransferase-like 1							103.0	101.0	102.0					2																	128913070		2203	4298	6501	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128913070C>T	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2145C>T	2.37:g.128913070C>T						UGGT1_uc010fme.1_Silent_p.F590F|UGGT1_uc002tpr.2_Silent_p.F691F	p.F715F	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			20	2323	+			715					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.2145C>T	CCDS2154.1																																																																																				0.323	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2		NM_020120		6	42	0	0	0	0.001168	0	6	42		
NXPH2	11249	broad.mit.edu	37	2	139428601	139428601	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:139428601T>C	ENST00000272641.3	-	2	792	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	229	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCAAATGACCTTGAAGGGCTT	0.468																																						uc002tvi.2		NaN																	0				ovary(3)|skin(1)	4						c.(685-687)AAG>AGG		neurexophilin 2 precursor							91.0	87.0	88.0					2																	139428601		1927	4138	6065	SO:0001583	missense	11249				neuropeptide signaling pathway	extracellular region		g.chr2:139428601T>C	AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.686A>G	2.37:g.139428601T>C	ENSP00000272641:p.Lys229Arg						p.K229R	NM_007226	NP_009157	O95156	NXPH2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.101)	2	686	-			229			V (Cys-rich).		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	ENST00000272641.3	37	c.686A>G	CCDS46421.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234752	0.79800	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.80712	-0.1260	8	.	.	.	-17.5341	15.925	0.79609	0.0:0.0:0.0:1.0	.	229	O95156	NXPH2_HUMAN	R	229	.	.	K	-	2	0	NXPH2	139145071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.225000	0.72522	0.533000	0.62120	AAG		0.468	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331901.1				21	16	0	0	0	0.010504	0	21	16		
LRP1B	53353	broad.mit.edu	37	2	141806780	141806780	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:141806780C>G	ENST00000389484.3	-	11	2535	c.1564G>C	c.(1564-1566)Gag>Cag	p.E522Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	522					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E522K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGAACAACTCATTCTTTGGT	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NaN																	1	Substitution - Missense(1)		central_nervous_system(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1564-1566)GAG>CAG		low density lipoprotein-related protein 1B							87.0	89.0	88.0					2																	141806780		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141806780C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1564G>C	2.37:g.141806780C>G	ENSP00000374135:p.Glu522Gln	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.E522Q	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	11	2536	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	522			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1564G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048200	0.55110	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90385	-2.66	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.069047	0.56097	U	0.000027	D	0.90174	0.6929	M	0.68593	2.085	0.45452	D	0.99842	P	0.47106	0.89	B	0.43413	0.419	D	0.87986	0.2746	10	0.15066	T	0.55	.	19.3798	0.94527	0.0:1.0:0.0:0.0	.	522	Q9NZR2	LRP1B_HUMAN	Q	522;460	ENSP00000374135:E522Q	ENSP00000374135:E522Q	E	-	1	0	LRP1B	141523250	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	5.624000	0.67764	2.565000	0.86533	0.563000	0.77884	GAG		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557		10	21	0	0	0	0.008291	0	10	21		
BAZ2B	29994	broad.mit.edu	37	2	160194090	160194090	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:160194090T>A	ENST00000392783.2	-	32	6143	c.5648A>T	c.(5647-5649)aAc>aTc	p.N1883I	BAZ2B_ENST00000355831.2_Missense_Mutation_p.N1849I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.N1783I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.N1847I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1883					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCTTTCAATGTTCCGCTCCAA	0.483																																						uc002uao.2		NaN																	0				ovary(3)|skin(1)	4						c.(5647-5649)AAC>ATC		bromodomain adjacent to zinc finger domain, 2B							153.0	150.0	151.0					2																	160194090		1942	4140	6082	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160194090T>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5648A>T	2.37:g.160194090T>A	ENSP00000376534:p.Asn1883Ile					BAZ2B_uc002uap.2_Missense_Mutation_p.N1847I	p.N1883I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			32	6000	-			1883					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5648A>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999408	0.35226	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.61859	0.11;0.13;0.11;0.07	5.78	5.78	0.91487	.	0.000000	0.40302	U	0.001133	T	0.76090	0.3939	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.974;0.996	T	0.77897	-0.2416	10	0.54805	T	0.06	-12.3586	16.1021	0.81178	0.0:0.0:0.0:1.0	.	1847;1883	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	I	1847;1883;1849;1783;101	ENSP00000376533:N1847I;ENSP00000376534:N1883I;ENSP00000348087:N1849I;ENSP00000339670:N1783I	ENSP00000339670:N1783I	N	-	2	0	BAZ2B	159902336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.210000	0.71456	0.533000	0.62120	AAC		0.483	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				35	89	0	0	0	0.015359	0	35	89		
BAZ2B	29994	broad.mit.edu	37	2	160206576	160206576	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:160206576G>C	ENST00000392783.2	-	28	5001	c.4506C>G	c.(4504-4506)aaC>aaG	p.N1502K	BAZ2B_ENST00000355831.2_Missense_Mutation_p.N1468K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.N1402K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.N1466K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTTTTCCACTGTTCTGATAAG	0.448																																						uc002uao.2		NaN																	0				ovary(3)|skin(1)	4						c.(4504-4506)AAC>AAG		bromodomain adjacent to zinc finger domain, 2B							87.0	83.0	84.0					2																	160206576		2014	4187	6201	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160206576G>C	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4506C>G	2.37:g.160206576G>C	ENSP00000376534:p.Asn1502Lys					BAZ2B_uc002uap.2_Missense_Mutation_p.N1466K	p.N1502K	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			28	4858	-			1502					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4506C>G	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	7.168	0.587067	0.13812	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	5.87	-0.108	0.13588	.	0.000000	0.39909	U	0.001228	T	0.06645	0.0170	L	0.57536	1.79	0.33406	D	0.577935	B;P	0.40431	0.05;0.717	B;B	0.35607	0.049;0.206	T	0.26155	-1.0111	10	0.40728	T	0.16	-4.9583	10.5857	0.45282	0.6064:0.0:0.3936:0.0	.	1466;1502	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1466;1502;1468;1402	ENSP00000376533:N1466K;ENSP00000376534:N1502K;ENSP00000348087:N1468K;ENSP00000339670:N1402K	ENSP00000339670:N1402K	N	-	3	2	BAZ2B	159914822	0.851000	0.29673	0.987000	0.45799	0.544000	0.35116	-0.032000	0.12266	-0.013000	0.14199	0.655000	0.94253	AAC		0.448	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				17	43	0	0	0	0.004007	0	17	43		
SCN1A	6323	broad.mit.edu	37	2	166850897	166850897	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:166850897G>T	ENST00000303395.4	-	25	4610	c.4611C>A	c.(4609-4611)ttC>ttA	p.F1537L	SCN1A_ENST00000409050.1_Missense_Mutation_p.F1509L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1526L|SCN1A_ENST00000423058.2_Missense_Mutation_p.F1537L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1537				F -> L (in Ref. 7; CAA46439/M91803). {ECO:0000305}.	adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTGGTTACGAAGTCAAAGA	0.353																																						uc010zcz.1		NaN																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(4576-4578)TTC>TTA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						107.0	96.0	100.0					2																	166850897		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166850897G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4611C>A	2.37:g.166850897G>T	ENSP00000303540:p.Phe1537Leu						p.F1526L	NM_006920	NP_008851	P35498	SCN1A_HUMAN			25	4596	-			1537	F -> L (in Ref. 7; CAA46439/M91803).		Helical; Name=S1 of repeat IV; (By similarity).|IV.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.4578C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301617	0.23736	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.95656	-3.77;-3.77;-3.72;-3.7	5.76	-0.0569	0.13803	.	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	N	0.04335	-0.225	0.35121	D	0.76709	B	0.31040	0.305	B	0.33799	0.17	T	0.80132	-0.1510	10	0.33141	T	0.24	.	9.9987	0.41916	0.7255:0.0:0.2745:0.0	.	1526	P35498-2	.	L	1537;1537;1526;1509	ENSP00000407030:F1537L;ENSP00000303540:F1537L;ENSP00000364554:F1526L;ENSP00000386312:F1509L	ENSP00000303540:F1537L	F	-	3	2	SCN1A	166559143	0.848000	0.29623	0.997000	0.53966	0.984000	0.73092	0.120000	0.15647	-0.174000	0.10743	-0.474000	0.04947	TTC		0.353	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920		4	10	1	0	1.23904e-05	0.014758	1.61056e-05	4	10		
XIRP2	129446	broad.mit.edu	37	2	168105339	168105339	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:168105339G>A	ENST00000409195.1	+	9	7526	c.7437G>A	c.(7435-7437)caG>caA	p.Q2479Q	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.Q2257Q|XIRP2_ENST00000295237.9_Silent_p.Q2479Q|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2304					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGACAAAGCAGAACGTTATTA	0.403																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(7435-7437)CAG>CAA		xin actin-binding repeat containing 2 isoform 1							81.0	77.0	78.0					2																	168105339		1911	4141	6052	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105339G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7437G>A	2.37:g.168105339G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.Q2304Q|XIRP2_uc010fpq.2_Silent_p.Q2257Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.Q2479Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7455	+			2304					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.7437G>A	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		13	15	0	0	0	0.013537	0	13	15		
LRP2	4036	broad.mit.edu	37	2	170019001	170019001	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:170019001C>A	ENST00000263816.3	-	63	12153	c.11868G>T	c.(11866-11868)tgG>tgT	p.W3956C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3956	LDL-receptor class A 36. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTTCATCGGACCAGTCACCAC	0.388																																						uc002ues.2		NaN																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(11866-11868)TGG>TGT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						164.0	147.0	153.0					2																	170019001		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170019001C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11868G>T	2.37:g.170019001C>A	ENSP00000263816:p.Trp3956Cys						p.W3956C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	63	12081	-			3956			LDL-receptor class A 36.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11868G>T	CCDS2232.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.029|3.029	-0.199956|-0.199956	0.06219|0.06219	.|.	.|.	ENSG00000081479|ENSG00000081479	ENST00000536293|ENST00000263816	.|D	.|0.95447	.|-3.71	5.99|5.99	-2.06|-2.06	0.07298|0.07298	.|Low-density lipoprotein (LDL) receptor class A, conserved site (1);Growth factor, receptor (1);	.|0.744180	.|0.13940	.|N	.|0.352225	D|D	0.90926|0.90926	0.7148|0.7148	L|L	0.52126|0.52126	1.63|1.63	0.33070|0.33070	D|D	0.535204|0.535204	.|B	.|0.10296	.|0.003	.|B	.|0.09377	.|0.004	T|T	0.81215|0.81215	-0.1034|-0.1034	6|10	0.87932|0.38643	D|T	0|0.18	.|.	6.775|6.775	0.23615|0.23615	0.446:0.245:0.309:0.0|0.446:0.245:0.309:0.0	.|.	.|3956	.|P98164	.|LRP2_HUMAN	V|C	621|3956	.|ENSP00000263816:W3956C	ENSP00000438157:G621V|ENSP00000263816:W3956C	G|W	-|-	2|3	0|0	LRP2|LRP2	169727247|169727247	0.998000|0.998000	0.40836|0.40836	0.002000|0.002000	0.10522|0.10522	0.033000|0.033000	0.12548|0.12548	0.840000|0.840000	0.27600|0.27600	-0.612000|-0.612000	0.05701|0.05701	-0.262000|-0.262000	0.10625|0.10625	GGT|TGG		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		27	47	1	0	3.65163e-15	0.00632	5.03086e-15	27	47		
SLC25A12	8604	broad.mit.edu	37	2	172749752	172749752	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:172749752C>T	ENST00000422440.2	-	2	66	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	SLC25A12_ENST00000392592.4_5'UTR|SLC25A12_ENST00000472748.1_5'UTR	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	10					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGGATCCCCTCGCTTAGTTGT	0.393																																						uc002uhh.2		NaN																	0					0						c.(28-30)CGA>CAA		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						127.0	125.0	126.0					2																	172749752		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172749752C>T	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.29G>A	2.37:g.172749752C>T	ENSP00000388658:p.Arg10Gln					SLC25A12_uc010fqh.2_5'UTR|SLC25A12_uc010zdv.1_RNA	p.R10Q	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		2	118	-			10					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.29G>A	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198328	0.79015	.	.	ENSG00000115840	ENST00000422440	D	0.87103	-2.21	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.81682	2.555	0.80722	D	1	D	0.63046	0.992	P	0.55785	0.784	D	0.92506	0.6012	10	0.66056	D	0.02	-5.8566	14.871	0.70456	0.0:1.0:0.0:0.0	.	10	O75746	CMC1_HUMAN	Q	10	ENSP00000388658:R10Q	ENSP00000263812:R10Q	R	-	2	0	SLC25A12	172457998	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.949000	0.56668	2.576000	0.86940	0.655000	0.94253	CGA		0.393	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2		NM_003705		27	133	0	0	0	0.008361	0	27	133		
TTN	7273	broad.mit.edu	37	2	179399173	179399173	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179399173C>A	ENST00000591111.1	-	308	97470	c.97246G>T	c.(97246-97248)Gag>Tag	p.E32416*	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E25117*|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E34057*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E25184*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E24992*|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E31489*|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32416	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			GATTTCCTCTCTTTCACTAAC	0.398																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(94465-94467)GAG>TAG		titin isoform N2-A							132.0	133.0	133.0					2																	179399173		1933	4126	6059	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179399173C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97246G>T	2.37:g.179399173C>A	ENSP00000465570:p.Glu32416*					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.E25184*|TTN_uc010zfi.1_Nonsense_Mutation_p.E25117*|TTN_uc010zfj.1_Nonsense_Mutation_p.E24992*	p.E31489*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	94689	-			32416					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.94465G>T		.	.	.	.	.	.	.	.	.	.	C	71	112.929584	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3087	0.94175	0.0:1.0:0.0:0.0	.	.	.	.	X	31489;24992;25184;25117;24989	.	ENSP00000340554:E25184X	E	-	1	0	TTN	179107419	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.794000	0.85869	2.857000	0.98124	0.650000	0.86243	GAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		25	98	1	0	1.26454e-06	0.005443	1.67527e-06	25	98		
TTN	7273	broad.mit.edu	37	2	179444828	179444828	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179444828C>G	ENST00000591111.1	-	268	62487	c.62263G>C	c.(62263-62265)Gca>Cca	p.A20755P	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A13456P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A22396P|TTN_ENST00000342175.6_Missense_Mutation_p.A13523P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A13331P|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A19828P			Q8WZ42	TITIN_HUMAN	titin	20755	Fibronectin type-III 50. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTCCTCTCTGCATCACGTTTT	0.438																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(59482-59484)GCA>CCA		titin isoform N2-A							180.0	172.0	175.0					2																	179444828		1894	4126	6020	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444828C>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.62263G>C	2.37:g.179444828C>G	ENSP00000465570:p.Ala20755Pro					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A13523P|TTN_uc010zfi.1_Missense_Mutation_p.A13456P|TTN_uc010zfj.1_Missense_Mutation_p.A13331P|uc002umv.1_3'UTR	p.A19828P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		267	59706	-			20755					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.59482G>C		.	.	.	.	.	.	.	.	.	.	C	15.47	2.844105	0.51164	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69860	0.3158	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.71104	-0.4689	9	0.87932	D	0	.	19.7274	0.96170	0.0:1.0:0.0:0.0	.	13331;13456;13523;20755	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	19828;13331;13523;13456;13329	ENSP00000343764:A19828P;ENSP00000434586:A13331P;ENSP00000340554:A13523P;ENSP00000352154:A13456P	ENSP00000340554:A13523P	A	-	1	0	TTN	179153074	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.023000	0.70848	2.663000	0.90544	0.563000	0.77884	GCA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		15	106	0	0	0	0.003163	0	15	106		
TTN	7273	broad.mit.edu	37	2	179578817	179578817	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179578817G>C	ENST00000591111.1	-	90	25841	c.25617C>G	c.(25615-25617)acC>acG	p.T8539T	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.T8856T|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.T7612T			Q8WZ42	TITIN_HUMAN	titin	12703	Ig-like 68.				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)			TGAGTTCAGGGGTGCCAGCTA	0.413																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(22834-22836)ACC>ACG		titin isoform N2-A							103.0	93.0	96.0					2																	179578817		1865	4100	5965	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578817G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25617C>G	2.37:g.179578817G>C						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.T4273T	p.T7612T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		89	23060	-			8539					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.22836C>G																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		13	17	0	0	0	0.013537	0	13	17		
TTN	7273	broad.mit.edu	37	2	179579153	179579153	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179579153A>G	ENST00000591111.1	-	89	25621	c.25397T>C	c.(25396-25398)aTa>aCa	p.I8466T	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I8783T|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I7539T			Q8WZ42	TITIN_HUMAN	titin	12634	Ig-like 67.				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)			AGAAATCCATATGTTGTCACT	0.413																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(22615-22617)ATA>ACA		titin isoform N2-A							89.0	83.0	85.0					2																	179579153		1860	4092	5952	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579153A>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.25397T>C	2.37:g.179579153A>G	ENSP00000465570:p.Ile8466Thr					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I4200T	p.I7539T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		88	22840	-			8466					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.22616T>C		.	.	.	.	.	.	.	.	.	.	A	13.19	2.162607	0.38217	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70544	0.3236	M	0.73372	2.23	0.80722	D	1	B	0.15719	0.014	B	0.29353	0.101	T	0.68934	-0.5278	9	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	8466	Q8WZ42	TITIN_HUMAN	T	7539	ENSP00000343764:I7539T	ENSP00000343764:I7539T	I	-	2	0	TTN	179287398	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.026000	0.57232	2.285000	0.76669	0.533000	0.62120	ATA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		17	23	0	0	0	0.004007	0	17	23		
TTN	7273	broad.mit.edu	37	2	179642507	179642507	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:179642507A>C	ENST00000591111.1	-	25	4628	c.4404T>G	c.(4402-4404)tgT>tgG	p.C1468W	TTN_ENST00000359218.5_Missense_Mutation_p.C1422W|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.C1468W|TTN_ENST00000360870.5_Missense_Mutation_p.C1468W|TTN_ENST00000342175.6_Missense_Mutation_p.C1422W|TTN_ENST00000460472.2_Missense_Mutation_p.C1422W|TTN_ENST00000342992.6_Missense_Mutation_p.C1468W			Q8WZ42	TITIN_HUMAN	titin	12335	Ig-like 6.				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)			GCCCTTCTAAACATTTGAAAG	0.418																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(4402-4404)TGT>TGG		titin isoform N2-A							84.0	82.0	82.0					2																	179642507		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179642507A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4404T>G	2.37:g.179642507A>C	ENSP00000465570:p.Cys1468Trp					TTN_uc010zfh.1_Missense_Mutation_p.C1422W|TTN_uc010zfi.1_Missense_Mutation_p.C1422W|TTN_uc010zfj.1_Missense_Mutation_p.C1422W|TTN_uc002unb.2_Missense_Mutation_p.C1468W|uc002unc.1_RNA	p.C1468W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		25	4628	-			1468					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.4404T>G		.	.	.	.	.	.	.	.	.	.	A	14.61	2.585936	0.46110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.96	2.41	0.29592	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78947	0.4364	M	0.78456	2.415	0.42105	D	0.991353	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.985;0.985;0.985;0.992;0.998	T	0.78505	-0.2178	9	0.87932	D	0	.	9.0077	0.36122	0.7936:0.0:0.2064:0.0	.	1422;1422;1422;1468;1468	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	W	1468;1422;1422;1422;1422;1468	ENSP00000343764:C1468W;ENSP00000434586:C1422W;ENSP00000340554:C1422W;ENSP00000352154:C1422W;ENSP00000354117:C1468W	ENSP00000340554:C1422W	C	-	3	2	TTN	179350752	0.983000	0.35010	0.998000	0.56505	0.997000	0.91878	1.214000	0.32419	0.525000	0.28522	0.528000	0.53228	TGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		12	59	0	0	0	0.013537	0	12	59		
DNAH7	56171	broad.mit.edu	37	2	196602713	196602713	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:196602713G>A	ENST00000312428.6	-	65	12107	c.12007C>T	c.(12007-12009)Ccc>Tcc	p.P4003S	DNAH7_ENST00000409063.1_Missense_Mutation_p.P486S|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4003					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTCAGAGGGAAGAGTCATG	0.438																																						uc002utj.3		NaN																	0				skin(10)|ovary(2)	12						c.(12007-12009)CCC>TCC		dynein, axonemal, heavy chain 7							84.0	85.0	85.0					2																	196602713		1946	4140	6086	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196602713G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.12007C>T	2.37:g.196602713G>A	ENSP00000311273:p.Pro4003Ser					DNAH7_uc002uti.3_Missense_Mutation_p.P486S	p.P4003S	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			65	12108	-			4003					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.12007C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872408	0.72180	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.72615	-0.67;-0.67	4.51	4.51	0.55191	Dynein heavy chain (1);	0.138602	0.46758	D	0.000261	D	0.82384	0.5025	M	0.85373	2.75	0.80722	D	1	P	0.42649	0.786	P	0.52343	0.696	D	0.85146	0.0983	10	0.56958	D	0.05	.	17.3428	0.87301	0.0:0.0:1.0:0.0	.	4003	Q8WXX0	DYH7_HUMAN	S	4003;486	ENSP00000311273:P4003S;ENSP00000386912:P486S	ENSP00000311273:P4003S	P	-	1	0	DNAH7	196310958	0.918000	0.31147	1.000000	0.80357	0.978000	0.69477	1.350000	0.34010	2.480000	0.83734	0.585000	0.79938	CCC		0.438	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		7	41	0	0	0	0.00308	0	7	41		
CFLAR	8837	broad.mit.edu	37	2	202000716	202000716	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:202000716G>A	ENST00000309955.3	+	4	924	c.409G>A	c.(409-411)Gag>Aag	p.E137K	CFLAR_ENST00000479953.2_Missense_Mutation_p.E41K|CFLAR_ENST00000340870.5_Missense_Mutation_p.E137K|CFLAR_ENST00000440180.1_Missense_Mutation_p.E137K|CFLAR_ENST00000457277.1_Missense_Mutation_p.E137K|CFLAR_ENST00000494258.1_Missense_Mutation_p.E41K|CFLAR_ENST00000423241.2_Missense_Mutation_p.E137K|CFLAR_ENST00000341222.6_Missense_Mutation_p.E137K|CFLAR_ENST00000443227.1_Missense_Mutation_p.E41K|CFLAR_ENST00000355558.4_Missense_Mutation_p.E137K|CFLAR_ENST00000395148.2_Missense_Mutation_p.E137K|CFLAR_ENST00000341582.6_Missense_Mutation_p.E137K|CFLAR_ENST00000342795.5_Missense_Mutation_p.E137K	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	137	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CCTTGTGGTTGAGTTGGAGAA	0.403																																					Pancreas(16;548 657 22190 32864 42338)	uc002uxb.3		NaN																	0					0						c.(409-411)GAG>AAG		CASP8 and FADD-like apoptosis regulator isoform							152.0	145.0	148.0					2																	202000716		2203	4300	6503	SO:0001583	missense	8837				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	g.chr2:202000716G>A	AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"""Endogenous ligands"""	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.409G>A	2.37:g.202000716G>A	ENSP00000312455:p.Glu137Lys					CFLAR_uc002uwy.2_Missense_Mutation_p.E137K|CFLAR_uc002uwz.2_Missense_Mutation_p.E137K|CFLAR_uc002uxa.3_Missense_Mutation_p.E137K|CFLAR_uc010zhk.1_Missense_Mutation_p.E41K|CFLAR_uc002uxc.3_Missense_Mutation_p.E137K|CFLAR_uc010zhl.1_Missense_Mutation_p.E41K|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.E137K|CFLAR_uc002uxe.2_Missense_Mutation_p.E137K|CFLAR_uc002uxf.2_Missense_Mutation_p.E137K|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Missense_Mutation_p.E137K|CFLAR_uc010zhm.1_Missense_Mutation_p.E41K|CFLAR_uc010fsz.2_5'UTR	p.E137K	NM_003879	NP_003870	O15519	CFLAR_HUMAN			4	861	+			137			Interaction with FADD.|Interaction with caspase-8.|DED 2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 propeptide.		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	ENST00000309955.3	37	c.409G>A	CCDS2337.1	.	.	.	.	.	.	.	.	.	.	G	34	5.325154	0.95708	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000423241;ENST00000440180;ENST00000457277	D;D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.52	5.52	0.82312	DEATH-like (2);Death effector (3);	0.154247	0.64402	D	0.000019	D	0.91872	0.7427	M	0.86028	2.79	0.80722	D	1	D;P;D;D;D;P;B;P	0.76494	0.998;0.891;0.991;0.991;0.999;0.925;0.39;0.939	D;P;D;D;D;P;B;P	0.74023	0.982;0.688;0.94;0.913;0.978;0.661;0.439;0.688	D	0.92101	0.5688	10	0.59425	D	0.04	-6.8434	17.805	0.88599	0.0:0.0:1.0:0.0	.	41;137;137;137;137;137;137;137	O15519-3;C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;.;CFLAR_HUMAN;.;.;.	K	137;41;137;137;137;41;137;137;137;137;137;137	ENSP00000312455:E137K;ENSP00000413270:E41K;ENSP00000339335:E137K;ENSP00000347757:E137K;ENSP00000339326:E137K;ENSP00000345807:E137K;ENSP00000342809:E137K;ENSP00000399420:E137K;ENSP00000406775:E137K;ENSP00000411535:E137K	ENSP00000312455:E137K	E	+	1	0	CFLAR	201708961	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.918000	0.63376	2.878000	0.98634	0.650000	0.86243	GAG		0.403	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256276.3		NM_003879		28	139	0	0	0	0.008361	0	28	139		
BMPR2	659	broad.mit.edu	37	2	203420499	203420499	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:203420499C>G	ENST00000374580.4	+	12	2650	c.2111C>G	c.(2110-2112)tCt>tGt	p.S704C	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	704					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGTACTAGTTCTAGCTTGCTT	0.443																																						uc002uzf.3		NaN																	0				ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1)	9						c.(2110-2112)TCT>TGT		bone morphogenetic protein receptor type II							82.0	79.0	80.0					2																	203420499		2203	4300	6503	SO:0001583	missense	659				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity	g.chr2:203420499C>G	Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2111C>G	2.37:g.203420499C>G	ENSP00000363708:p.Ser704Cys					BMPR2_uc010ftr.2_Intron	p.S704C	NM_001204	NP_001195	Q13873	BMPR2_HUMAN			12	3259	+			704			Cytoplasmic (Potential).		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	c.2111C>G	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316859	0.81469	.	.	ENSG00000204217	ENST00000374580	D	0.89939	-2.59	5.96	5.96	0.96718	.	0.048760	0.85682	D	0.000000	D	0.89656	0.6778	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.55667	0.781	D	0.90377	0.4385	10	0.72032	D	0.01	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	704	Q13873	BMPR2_HUMAN	C	704	ENSP00000363708:S704C	ENSP00000363708:S704C	S	+	2	0	BMPR2	203128744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	TCT		0.443	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1		NM_001204		4	102	0	0	0	0.009096	0	4	102		
ABCA12	26154	broad.mit.edu	37	2	215851389	215851389	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:215851389G>A	ENST00000272895.7	-	28	4259	c.4040C>T	c.(4039-4041)gCc>gTc	p.A1347V	ABCA12_ENST00000389661.4_Missense_Mutation_p.A1029V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1347	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCATGCAGGGCAACCCCGAC	0.438																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NaN																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(4039-4041)GCC>GTC		ATP-binding cassette, sub-family A, member 12							88.0	84.0	85.0					2																	215851389		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215851389G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4040C>T	2.37:g.215851389G>A	ENSP00000272895:p.Ala1347Val					ABCA12_uc002vev.2_Missense_Mutation_p.A1029V|ABCA12_uc010zjn.1_Missense_Mutation_p.A274V	p.A1347V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	28	4260	-		Renal(323;0.127)	1347			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4040C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003570	0.74932	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93247	-3.19;-3.19	5.61	5.61	0.85477	ABC transporter-like (1);	0.097480	0.44902	D	0.000406	D	0.84638	0.5516	N	0.03253	-0.375	0.80722	D	1	P;B	0.41313	0.745;0.187	B;B	0.36378	0.223;0.119	D	0.85549	0.1220	10	0.32370	T	0.25	.	19.6299	0.95698	0.0:0.0:1.0:0.0	.	1347;1029	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	V	1347;1029	ENSP00000272895:A1347V;ENSP00000374312:A1029V	ENSP00000272895:A1347V	A	-	2	0	ABCA12	215559634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.750000	0.98875	2.640000	0.89533	0.563000	0.77884	GCC		0.438	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076		4	64	0	0	0	0.014758	0	4	64		
STK36	27148	broad.mit.edu	37	2	219559043	219559043	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:219559043C>T	ENST00000295709.3	+	20	2672	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F	STK36_ENST00000392105.3_Missense_Mutation_p.S798F|STK36_ENST00000392106.2_Missense_Mutation_p.S798F|STK36_ENST00000440309.1_Missense_Mutation_p.S798F	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATGTCGTCTCTCTTGTGGTA	0.458																																						uc002viu.2		NaN																	0				ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(2392-2394)TCT>TTT		serine/threonine kinase 36							397.0	342.0	361.0					2																	219559043		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219559043C>T	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2393C>T	2.37:g.219559043C>T	ENSP00000295709:p.Ser798Phe					STK36_uc002viv.2_Missense_Mutation_p.S798F|STK36_uc002viw.2_5'Flank|STK36_uc002vix.2_5'Flank	p.S798F	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	20	2659	+		Renal(207;0.0915)	798						Missense_Mutation	SNP	ENST00000295709.3	37	c.2393C>T	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207041	0.79127	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.76316	-0.99;-1.0;-1.01;-0.99	4.71	4.71	0.59529	.	0.000000	0.44902	D	0.000402	T	0.81484	0.4832	L	0.29908	0.895	0.44956	D	0.997974	D;D	0.76494	0.999;0.998	D;D	0.74023	0.982;0.915	D	0.83656	0.0158	10	0.87932	D	0	-13.9672	15.342	0.74306	0.0:1.0:0.0:0.0	.	798;798	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	F	798	ENSP00000295709:S798F;ENSP00000375955:S798F;ENSP00000375954:S798F;ENSP00000394095:S798F	ENSP00000295709:S798F	S	+	2	0	STK36	219267287	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.245000	0.58734	2.605000	0.88082	0.655000	0.94253	TCT		0.458	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2				8	195	0	0	0	0.008291	0	8	195		
COL4A3	1285	broad.mit.edu	37	2	228148486	228148486	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228148486A>T	ENST00000396578.3	+	33	2822	c.2660A>T	c.(2659-2661)gAa>gTa	p.E887V	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	887	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TCCATAGGTGAAGATGGAGTG	0.458																																						uc002vom.1		NaN																	0				skin(2)|ovary(1)	3						c.(2659-2661)GAA>GTA		alpha 3 type IV collagen isoform 1 precursor							110.0	114.0	113.0					2																	228148486		1868	4104	5972	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228148486A>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.2660A>T	2.37:g.228148486A>T	ENSP00000379823:p.Glu887Val					COL4A3_uc002von.1_Missense_Mutation_p.E887V|COL4A3_uc002voo.1_Missense_Mutation_p.E887V|COL4A3_uc002vop.1_Missense_Mutation_p.E887V|uc002voq.1_Intron|uc002vor.1_Intron	p.E887V	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	33	2822	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	887			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.2660A>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	A	9.782	1.175594	0.21704	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93712	-3.27	5.49	3.05	0.35203	.	0.701877	0.12988	N	0.422713	D	0.89522	0.6739	L	0.51422	1.61	0.09310	N	0.999999	P;P;B;B	0.34724	0.465;0.465;0.279;0.326	B;B;B;B	0.35182	0.124;0.124;0.124;0.197	T	0.79671	-0.1706	10	0.38643	T	0.18	.	6.7308	0.23383	0.5388:0.3207:0.0:0.1406	.	887;887;887;887	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	V	887	ENSP00000379823:E887V	ENSP00000323334:E887V	E	+	2	0	COL4A3	227856730	0.013000	0.17824	0.024000	0.17045	0.021000	0.10359	1.033000	0.30191	0.425000	0.26087	0.533000	0.62120	GAA		0.458	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091		40	111	0	0	0	0.009718	0	40	111		
SPHKAP	80309	broad.mit.edu	37	2	228881823	228881823	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228881823C>T	ENST00000392056.3	-	7	3793	c.3747G>A	c.(3745-3747)ctG>ctA	p.L1249L	SPHKAP_ENST00000344657.5_Silent_p.L1249L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1249						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTCACTGTCAGCCTGGAGC	0.567																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(3745-3747)CTG>CTA		sphingosine kinase type 1-interacting protein							65.0	62.0	63.0					2																	228881823		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228881823C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3747G>A	2.37:g.228881823C>T						SPHKAP_uc002vpp.2_Silent_p.L1249L|SPHKAP_uc010zlx.1_Silent_p.L1249L	p.L1249L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3794	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1249					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.3747G>A	CCDS46537.1																																																																																				0.567	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		13	91	0	0	0	0.016723	0	13	91		
SPHKAP	80309	broad.mit.edu	37	2	228882099	228882099	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr2:228882099G>C	ENST00000392056.3	-	7	3517	c.3471C>G	c.(3469-3471)agC>agG	p.S1157R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1157R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1157						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGAATGCTGCTGGCGTTCT	0.512																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(3469-3471)AGC>AGG		sphingosine kinase type 1-interacting protein							73.0	65.0	68.0					2																	228882099		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882099G>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3471C>G	2.37:g.228882099G>C	ENSP00000375909:p.Ser1157Arg					SPHKAP_uc002vpp.2_Missense_Mutation_p.S1157R|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1157R	p.S1157R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3518	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1157					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3471C>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679336	0.47886	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.41758	0.99;0.99	5.57	3.75	0.43078	.	0.238758	0.56097	D	0.000031	T	0.42899	0.1223	N	0.24115	0.695	0.44587	D	0.997559	D;P;D	0.69078	0.991;0.933;0.997	P;P;P	0.60949	0.764;0.618;0.881	T	0.33904	-0.9850	10	0.49607	T	0.09	.	9.6287	0.39765	0.2235:0.0:0.7765:0.0	.	188;1157;1157	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	R	1157	ENSP00000375909:S1157R;ENSP00000339886:S1157R	ENSP00000339886:S1157R	S	-	3	2	SPHKAP	228590343	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.994000	0.49433	1.501000	0.48654	-0.136000	0.14681	AGC		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		11	79	0	0	0	0.008291	0	11	79		
DEFB128	245939	broad.mit.edu	37	20	168750	168750	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:168750C>T	ENST00000334391.4	-	2	116	c.59G>A	c.(58-60)aGa>aAa	p.R20K		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	20					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R20fs*4(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TTTTTTGAGTCTTGCCCCGTC	0.423																																						uc002wcz.1		NaN																	1	Deletion - Frameshift(1)	p.R20fs*4(1)	breast(1)	breast(1)	1						c.(58-60)AGA>AAA		beta-defensin 128 precursor							186.0	178.0	180.0					20																	168750		2203	4300	6503	SO:0001583	missense	245939				defense response to bacterium	extracellular region		g.chr20:168750C>T	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"""Defensins, beta"""	18106	protein-coding gene	gene with protein product	"""defensin, beta 28"""					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.59G>A	20.37:g.168750C>T	ENSP00000335382:p.Arg20Lys						p.R20K	NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	59	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	20					B2RU29	Missense_Mutation	SNP	ENST00000334391.4	37	c.59G>A	CCDS33430.1	.	.	.	.	.	.	.	.	.	.	c	10.92	1.485857	0.26686	.	.	ENSG00000185982	ENST00000334391	T	0.16457	2.34	4.23	3.07	0.35406	.	0.831283	0.10108	N	0.715024	T	0.09423	0.0232	.	.	.	0.09310	N	1	B	0.34290	0.447	B	0.25759	0.063	T	0.25779	-1.0122	9	0.33141	T	0.24	-0.6645	5.5514	0.17093	0.0:0.7935:0.0:0.2065	.	20	Q7Z7B8	DB128_HUMAN	K	20	ENSP00000335382:R20K	ENSP00000335382:R20K	R	-	2	0	DEFB128	116750	0.002000	0.14202	0.001000	0.08648	0.033000	0.12548	0.853000	0.27777	1.006000	0.39211	0.651000	0.88453	AGA		0.423	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2		NM_001037732		7	95	0	0	0	0.00308	0	7	95		
TMC2	117532	broad.mit.edu	37	20	2573052	2573052	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:2573052G>C	ENST00000358864.1	+	8	946	c.931G>C	c.(931-933)Gag>Cag	p.E311Q		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	311					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGGATTTTGAGGTACTATT	0.403																																						uc002wgf.1		NaN																	0				ovary(3)	3						c.(931-933)GAG>CAG		transmembrane cochlear-expressed protein 2							133.0	124.0	127.0					20																	2573052		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2573052G>C	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.931G>C	20.37:g.2573052G>C	ENSP00000351732:p.Glu311Gln					TMC2_uc002wgg.1_Missense_Mutation_p.E295Q|TMC2_uc010zpw.1_Missense_Mutation_p.E143Q|TMC2_uc010zpx.1_Missense_Mutation_p.E142Q	p.E311Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			8	946	+			311			Extracellular (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.931G>C	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241545	0.58995	.	.	ENSG00000149488	ENST00000358864	T	0.50277	0.75	4.9	4.9	0.64082	.	0.211021	0.49916	D	0.000129	T	0.55210	0.1906	L	0.46885	1.475	0.38393	D	0.945465	P;P;D;P	0.54047	0.729;0.913;0.964;0.94	B;B;P;P	0.58454	0.315;0.345;0.839;0.76	T	0.50197	-0.8856	10	0.15499	T	0.54	-23.2546	15.9487	0.79813	0.0:0.0:1.0:0.0	.	142;143;311;311	B4DFB3;B7ZAE6;Q8TDI7-3;Q8TDI7	.;.;.;TMC2_HUMAN	Q	311	ENSP00000351732:E311Q	ENSP00000351732:E311Q	E	+	1	0	TMC2	2521052	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.535000	0.53575	2.454000	0.82982	0.563000	0.77884	GAG		0.403	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2				70	113	0	0	0	0.01441	0	70	113		
CDC25B	994	broad.mit.edu	37	20	3783805	3783805	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:3783805G>A	ENST00000245960.5	+	13	2005	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	CDC25B_ENST00000379598.5_Silent_p.V345V|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000439880.2_Silent_p.V422V|CDC25B_ENST00000344256.6_Silent_p.V372V|CDC25B_ENST00000340833.4_Silent_p.V395V	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	436	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						ATAAGTTTGTGATTGTAGACT	0.547																																						uc002wjn.2		NaN																	0				lung(3)|ovary(2)	5						c.(1306-1308)GTG>GTA		cell division cycle 25B isoform 1							91.0	80.0	84.0					20																	3783805		2203	4300	6503	SO:0001819	synonymous_variant	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3783805G>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1308G>A	20.37:g.3783805G>A						CDC25B_uc010zqk.1_Silent_p.V372V|CDC25B_uc010zql.1_Silent_p.V358V|CDC25B_uc010zqm.1_Silent_p.V345V|CDC25B_uc002wjl.2_Silent_p.V324V|CDC25B_uc002wjm.2_Silent_p.V324V|CDC25B_uc002wjo.2_Silent_p.V422V|CDC25B_uc002wjp.2_Silent_p.V395V|CDC25B_uc002wjq.2_Silent_p.V236V|CDC25B_uc010gbc.2_Silent_p.V17V	p.V436V	NM_021873	NP_068659	P30305	MPIP2_HUMAN			13	2086	+			436			Rhodanese.		D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	37	c.1308G>A	CCDS13067.1																																																																																				0.547	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2		NM_021874		29	55	0	0	0	0.010818	0	29	55		
RIN2	54453	broad.mit.edu	37	20	19956386	19956386	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:19956386G>C	ENST00000255006.6	+	8	2013	c.1864G>C	c.(1864-1866)Gag>Cag	p.E622Q	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	573	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCAGAGCTCGGAGCTGGACCC	0.507																																						uc002wro.1		NaN																	0				lung(4)|ovary(1)	5						c.(1717-1719)GAG>CAG		Ras and Rab interactor 2							18.0	19.0	18.0					20																	19956386		1992	4162	6154	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19956386G>C	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1864G>C	20.37:g.19956386G>C	ENSP00000255006:p.Glu622Gln					RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.E367Q	p.E573Q	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			7	1753	+			573					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1717G>C	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820474	0.90873	.	.	ENSG00000132669	ENST00000255006	T	0.34859	1.34	5.95	5.95	0.96441	.	0.098166	0.64402	D	0.000002	T	0.57548	0.2061	M	0.82823	2.61	0.80722	D	1	D	0.61697	0.99	P	0.52386	0.697	T	0.59685	-0.7408	9	.	.	.	-19.6374	19.9663	0.97271	0.0:0.0:1.0:0.0	.	573	Q8WYP3	RIN2_HUMAN	Q	622	ENSP00000255006:E622Q	.	E	+	1	0	RIN2	19904386	1.000000	0.71417	0.965000	0.40720	0.909000	0.53808	9.834000	0.99428	2.822000	0.97130	0.655000	0.94253	GAG		0.507	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1				12	41	0	0	0	0.013537	0	12	41		
ZNF337	26152	broad.mit.edu	37	20	25656356	25656356	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:25656356C>T	ENST00000376436.1	-	4	2107	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R523Q|ZNF337_ENST00000538750.1_Missense_Mutation_p.R491Q			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	523					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAAAGCCTCGCCCACAATC	0.488																																						uc002wva.2		NaN																	0					0						c.(1567-1569)CGA>CAA		zinc finger protein 337							91.0	84.0	86.0					20																	25656356		2203	4300	6503	SO:0001583	missense	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25656356C>T		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1568G>A	20.37:g.25656356C>T	ENSP00000365619:p.Arg523Gln					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R491Q|ZNF337_uc002wvb.2_Missense_Mutation_p.R523Q|ZNF337_uc002wvc.2_Missense_Mutation_p.R523Q	p.R523Q	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	2090	-			523			C2H2-type 13.		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1568G>A	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	19.69	3.874900	0.72180	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.06218	3.42;3.42;3.33	1.29	-1.02	0.10135	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	L	0.43152	1.355	0.20489	N	0.999893	B;B	0.24823	0.112;0.112	B;B	0.08055	0.003;0.003	T	0.34825	-0.9813	9	0.87932	D	0	.	5.0544	0.14525	0.0:0.4041:0.0:0.5958	.	491;523	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	Q	523;523;523;491	ENSP00000365619:R523Q;ENSP00000252979:R523Q;ENSP00000442181:R491Q	ENSP00000252979:R523Q	R	-	2	0	ZNF337	25604356	0.052000	0.20516	0.020000	0.16555	0.858000	0.48976	1.047000	0.30367	-0.298000	0.08921	0.298000	0.19748	CGA		0.488	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1				12	156	0	0	0	0.010729	0	12	156		
MYLK2	85366	broad.mit.edu	37	20	30408240	30408240	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:30408240G>A	ENST00000375994.2	+	2	637	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MYLK2_ENST00000375985.4_Missense_Mutation_p.D122N			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	122					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCAGCCAGGATCCTGGAAA	0.667																																						uc002wwq.2		NaN																	0				lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6						c.(364-366)GAT>AAT		skeletal myosin light chain kinase							32.0	36.0	35.0					20																	30408240		2201	4298	6499	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30408240G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.364G>A	20.37:g.30408240G>A	ENSP00000365162:p.Asp122Asn						p.D122N	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	466	+			122					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.364G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043998	0.36085	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67171	-0.25;-0.25	4.7	3.75	0.43078	.	.	.	.	.	T	0.45337	0.1337	N	0.14661	0.345	0.19300	N	0.999978	B	0.06786	0.001	B	0.04013	0.001	T	0.23797	-1.0178	9	0.15499	T	0.54	.	8.6781	0.34191	0.1027:0.0:0.8973:0.0	.	122	Q9H1R3	MYLK2_HUMAN	N	122	ENSP00000365162:D122N;ENSP00000365152:D122N	ENSP00000365152:D122N	D	+	1	0	MYLK2	29871901	0.076000	0.21285	0.615000	0.29064	0.393000	0.30537	2.561000	0.45905	1.208000	0.43306	0.561000	0.74099	GAT		0.667	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2		NM_033118		31	109	0	0	0	0.015359	0	31	109		
CBFA2T2	9139	broad.mit.edu	37	20	32199130	32199130	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:32199130C>T	ENST00000346541.3	+	4	973	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F	CBFA2T2_ENST00000492345.1_Missense_Mutation_p.L117F|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.L117F|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.L146F|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.L137F|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.L117F|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.L117F|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.L156F	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	146	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GACTCTTGTTCTTGCACTGGT	0.478																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NaN																	0				pancreas(1)|skin(1)	2						c.(436-438)CTT>TTT		core-binding factor, runt domain, alpha subunit							90.0	90.0	90.0					20																	32199130		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32199130C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.436C>T	20.37:g.32199130C>T	ENSP00000262653:p.Leu146Phe					CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Missense_Mutation_p.L137F|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L117F|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	p.L146F	NM_005093	NP_005084	O43439	MTG8R_HUMAN			4	973	+			146			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.436C>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918072	0.52546	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.69	5.69	0.88448	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.42245	1.32	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.995	T	0.57033	-0.7880	10	0.48119	T	0.1	-0.7554	10.2676	0.43464	0.0:0.8537:0.0:0.1463	.	146;137	O43439;F8W6D7	MTG8R_HUMAN;.	F	146;137;137;117;146;117;117;156	ENSP00000364428:L146F;ENSP00000345810:L137F;ENSP00000408352:L137F;ENSP00000341865:L117F;ENSP00000262653:L146F;ENSP00000380902:L117F;ENSP00000380900:L117F;ENSP00000352622:L156F	ENSP00000345810:L137F	L	+	1	0	CBFA2T2	31662791	0.998000	0.40836	1.000000	0.80357	0.970000	0.65996	3.362000	0.52314	2.685000	0.91497	0.655000	0.94253	CTT		0.478	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2		NM_001032999		15	134	0	0	0	0.020292	0	15	134		
TRPC4AP	26133	broad.mit.edu	37	20	33596493	33596493	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:33596493C>T	ENST00000252015.2	-	13	1658	c.1569G>A	c.(1567-1569)aaG>aaA	p.K523K	TRPC4AP_ENST00000451813.2_Silent_p.K515K|TRPC4AP_ENST00000539834.1_Silent_p.K125K|TRPC4AP_ENST00000432634.2_Silent_p.K484K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	523					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGGCTCCTTCTTCATGACCT	0.507																																						uc002xbk.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1567-1569)AAG>AAA		TRPC4-associated protein isoform a							115.0	112.0	113.0					20																	33596493		2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33596493C>T	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1569G>A	20.37:g.33596493C>T						TRPC4AP_uc002xbj.2_5'Flank|TRPC4AP_uc010zuq.1_Silent_p.K114K|TRPC4AP_uc002xbl.2_Silent_p.K515K|TRPC4AP_uc010zur.1_Silent_p.K484K|TRPC4AP_uc002xbm.1_Silent_p.K523K	p.K523K	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		13	1603	-			523					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.1569G>A	CCDS13246.1																																																																																				0.507	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2		NM_015638		82	281	0	0	0	0.01441	0	82	281		
CPNE1	8904	broad.mit.edu	37	20	34219936	34219936	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:34219936T>A	ENST00000317619.3	-	8	862	c.468A>T	c.(466-468)ggA>ggT	p.G156G	CPNE1_ENST00000352393.4_Silent_p.G156G|CPNE1_ENST00000397446.1_Silent_p.G156G|CPNE1_ENST00000317677.5_Silent_p.G161G|CPNE1_ENST00000397442.1_Silent_p.G156G|CPNE1_ENST00000397445.1_Silent_p.G156G|CPNE1_ENST00000397443.1_Silent_p.G156G			Q99829	CPNE1_HUMAN	copine I	156	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GATCTGATTTTCCCAGGAAGT	0.537																																						uc002xdf.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(466-468)GGA>GGT		copine I isoform a							79.0	74.0	76.0					20																	34219936		2203	4300	6503	SO:0001819	synonymous_variant	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34219936T>A	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.468A>T	20.37:g.34219936T>A						CPNE1_uc002xdc.2_5'Flank|CPNE1_uc010zvj.1_Silent_p.G161G|CPNE1_uc002xde.2_Silent_p.G132G|CPNE1_uc002xdg.2_Silent_p.G156G|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Silent_p.G156G|CPNE1_uc002xdi.2_Silent_p.G156G|CPNE1_uc002xdj.2_Silent_p.G156G|CPNE1_uc002xdk.2_Silent_p.G156G|CPNE1_uc002xdl.2_Silent_p.G156G|CPNE1_uc002xdm.2_Silent_p.G156G|CPNE1_uc010gfk.1_Silent_p.G156G	p.G156G	NM_152931	NP_690908	Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		8	831	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		156			C2 2.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Silent	SNP	ENST00000317619.3	37	c.468A>T	CCDS13260.1																																																																																				0.537	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3		NM_152930		25	162	0	0	0	0.021523	0	25	162		
CNBD2	140894	broad.mit.edu	37	20	34596337	34596337	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:34596337C>T	ENST00000373973.3	+	9	1262	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	CNBD2_ENST00000538900.1_Silent_p.F363F|CNBD2_ENST00000349339.1_Silent_p.F363F			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	363																	GGACAAGCTTCAGCAGGAAGA	0.502																																						uc002xes.1		NaN																	0					0						c.(1087-1089)TTC>TTT		SubName: Full=C20orf152 protein;							65.0	70.0	68.0					20																	34596337		2203	4300	6503	SO:0001819	synonymous_variant	140894							g.chr20:34596337C>T	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1089C>T	20.37:g.34596337C>T						C20orf152_uc002xer.1_Silent_p.F363F|C20orf152_uc010gfp.1_RNA	p.F363F			Q96M20	CT152_HUMAN			9	1245	+	Breast(12;0.00631)		363					Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37	c.1089C>T																																																																																					0.502	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2		NM_080834		13	147	0	0	0	0.016723	0	13	147		
SRC	6714	broad.mit.edu	37	20	36030892	36030892	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:36030892C>T	ENST00000373578.2	+	12	1520	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	SRC_ENST00000373567.2_Missense_Mutation_p.R391C|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000358208.4_Missense_Mutation_p.R391C|SRC_ENST00000373558.2_Missense_Mutation_p.R397C|SRC_ENST00000360723.4_Missense_Mutation_p.R397C|SRC_ENST00000445403.1_Missense_Mutation_p.R391C	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CCGGGACCTTCGTGCAGCCAA	0.627																																						uc002xgx.2		NaN																	0				large_intestine(10)|lung(1)|central_nervous_system(1)|endometrium(1)	13						c.(1171-1173)CGT>TGT		proto-oncogene tyrosine-protein kinase SRC	Dasatinib(DB01254)						73.0	64.0	67.0					20																	36030892		2203	4300	6503	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36030892C>T	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1171C>T	20.37:g.36030892C>T	ENSP00000362680:p.Arg391Cys					SRC_uc002xgy.2_Missense_Mutation_p.R391C	p.R391C	NM_005417	NP_005408	P12931	SRC_HUMAN			12	1620	+		Myeloproliferative disorder(115;0.00878)	391			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.1171C>T	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997127	0.54147	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7	5.1	4.16	0.48862	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	T	0.19087	0.0458	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03587	-1.1022	10	0.72032	D	0.01	.	6.4821	0.22069	0.1785:0.7313:0.0:0.0902	.	391	P12931	SRC_HUMAN	C	391;391;397;391;391;397	ENSP00000408503:R391C;ENSP00000362680:R391C;ENSP00000353950:R397C;ENSP00000350941:R391C;ENSP00000362668:R391C;ENSP00000362659:R397C	ENSP00000350941:R391C	R	+	1	0	SRC	35464306	0.984000	0.35163	0.371000	0.25978	0.428000	0.31595	2.575000	0.46025	1.382000	0.46385	0.561000	0.74099	CGT		0.627	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1		NM_005417		6	112	0	0	0	0.001168	0	6	112		
TTI1	9675	broad.mit.edu	37	20	36625251	36625251	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:36625251G>A	ENST00000373448.2	-	7	3136	c.2898C>T	c.(2896-2898)atC>atT	p.I966I	TTI1_ENST00000449821.1_Silent_p.I966I|TTI1_ENST00000373447.3_Silent_p.I966I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	966					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCCTGGCACTGATGGGGGCCT	0.597																																						uc002xhl.2		NaN																	0					0						c.(2896-2898)ATC>ATT		hypothetical protein LOC9675							94.0	99.0	97.0					20																	36625251		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36625251G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2898C>T	20.37:g.36625251G>A						KIAA0406_uc002xhm.2_Silent_p.I966I	p.I966I	NM_014657	NP_055472	O43156	TTI1_HUMAN			7	3107	-		Myeloproliferative disorder(115;0.00874)	966					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.2898C>T	CCDS13300.1																																																																																				0.597	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2		NM_014657		49	335	0	0	0	0.01441	0	49	335		
MAFB	9935	broad.mit.edu	37	20	39316774	39316774	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:39316774C>T	ENST00000373313.2	-	1	1106	c.717G>A	c.(715-717)ctG>ctA	p.L239L	MAFB_ENST00000396967.1_Silent_p.L239L	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	239	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GCTTCTGCTTCAGGCGGATCA	0.632			T	IGH@	MM																																	uc002xji.2		NaN		Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0					0						c.(715-717)CTG>CTA		transcription factor MAFB							22.0	22.0	22.0					20																	39316774		2203	4300	6503	SO:0001819	synonymous_variant	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39316774C>T	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.717G>A	20.37:g.39316774C>T							p.L239L	NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN			1	1103	-		Myeloproliferative disorder(115;0.00878)	239			Basic motif.		B3KNE1|Q9H1F1	Silent	SNP	ENST00000373313.2	37	c.717G>A	CCDS13311.1																																																																																				0.632	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2				7	60	0	0	0	0.00308	0	7	60		
SRSF6	6431	broad.mit.edu	37	20	42086760	42086760	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:42086760C>G	ENST00000244020.3	+	1	193	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	29	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GCCGCCTCCTCGAAGTAGACC	0.647																																						uc010zwg.1		NaN																	0					0						c.(85-87)CTC>CTG		arginine/serine-rich splicing factor 6							37.0	40.0	39.0					20																	42086760		2203	4299	6502	SO:0001819	synonymous_variant	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42086760C>G	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.87C>G	20.37:g.42086760C>G						SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Silent_p.L29L	p.L29L	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		1	257	+		Myeloproliferative disorder(115;0.00452)	29			RRM 1.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Silent	SNP	ENST00000244020.3	37	c.87C>G	CCDS13318.1																																																																																				0.647	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1		NM_006275		17	87	0	0	0	0.007413	0	17	87		
TOX2	84969	broad.mit.edu	37	20	42635186	42635186	+	Splice_Site	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:42635186G>A	ENST00000358131.5	+	3	400		c.e3-1		TOX2_ENST00000341197.4_Splice_Site|TOX2_ENST00000423191.2_Splice_Site|RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000372999.1_Splice_Site	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2						female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGATGTTTTAGACCTACAACG	0.527																																						uc002xlf.3		NaN																	0				ovary(1)	1						c.e3-1		TOX high mobility group box family member 2							138.0	120.0	126.0					20																	42635186		2203	4300	6503	SO:0001630	splice_region_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42635186G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.193-1G>A	20.37:g.42635186G>A						TOX2_uc010ggo.2_Splice_Site_p.T56_splice|TOX2_uc002xle.3_Splice_Site_p.T14_splice|TOX2_uc010ggp.2_Splice_Site_p.T14_splice|TOX2_uc002xlg.2_Splice_Site_p.T14_splice	p.T65_splice	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	210	+		Myeloproliferative disorder(115;0.00452)						A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Splice_Site	SNP	ENST00000358131.5	37	c.193_splice	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708296	0.48412	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3939	0.87439	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TOX2	42068600	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	7.821000	0.86641	2.444000	0.82710	0.655000	0.94253	.		0.527	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			Intron	30	241	0	0	0	0.010818	0	30	241		
WISP2	8839	broad.mit.edu	37	20	43355830	43355830	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43355830T>A	ENST00000372868.2	+	5	978	c.635T>A	c.(634-636)aTg>aAg	p.M212K	WISP2_ENST00000372865.4_Missense_Mutation_p.W130R|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.M212K|RP11-445H22.4_ENST00000427303.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	212	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGGCTGGGCATGGCCACCCGG	0.687																																						uc002xmn.2		NaN																	0				skin(1)	1						c.(634-636)ATG>AAG		WNT1 inducible signaling pathway protein 2							49.0	49.0	49.0					20																	43355830		2202	4297	6499	SO:0001583	missense	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355830T>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.635T>A	20.37:g.43355830T>A	ENSP00000361959:p.Met212Lys					uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmp.2_Missense_Mutation_p.M212K|WISP2_uc002xmq.2_Missense_Mutation_p.W130R	p.M212K	NM_003881	NP_003872	O76076	WISP2_HUMAN			5	988	+		Myeloproliferative disorder(115;0.0122)	212			TSP type-1.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.635T>A	CCDS13336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.79|13.79	2.341384|2.341384	0.41498|0.41498	.|.	.|.	ENSG00000064205|ENSG00000064205	ENST00000372868;ENST00000190983|ENST00000372865	T;T|T	0.53206|0.63580	0.63;0.63|-0.05	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	0.969624|.	0.08484|.	N|.	0.938984|.	T|T	0.42854|0.42854	0.1221|0.1221	N|N	0.04746|0.04746	-0.17|-0.17	0.09310|0.09310	N|N	1|1	B|P	0.32939|0.45902	0.391|0.868	B|B	0.28991|0.40329	0.097|0.326	T|T	0.37150|0.37150	-0.9718|-0.9718	10|9	0.87932|0.72032	D|D	0|0.01	-17.7949|-17.7949	13.1748|13.1748	0.59619|0.59619	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	212|130	O76076|Q6PEG3	WISP2_HUMAN|.	K|R	212|130	ENSP00000361959:M212K;ENSP00000190983:M212K|ENSP00000361956:W130R	ENSP00000190983:M212K|ENSP00000361956:W130R	M|W	+|+	2|1	0|0	WISP2|WISP2	42789244|42789244	1.000000|1.000000	0.71417|0.71417	0.114000|0.114000	0.21550|0.21550	0.457000|0.457000	0.32468|0.32468	6.000000|6.000000	0.70678|0.70678	1.700000|1.700000	0.51204|0.51204	0.459000|0.459000	0.35465|0.35465	ATG|TGG		0.687	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1		NM_003881		43	128	0	0	0	0.00874	0	43	128		
RIMS4	140730	broad.mit.edu	37	20	43379189	43379189	+	IGR	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43379189A>C	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.I235L	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GCTCACGGTCATTGGCGCCTT	0.706																																						uc002xmr.2		NaN																	0					0						c.(703-705)ATT>CTT		potassium family, subfamily K, member 15							89.0	78.0	82.0					20																	43379189		2203	4300	6503	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43379189A>C		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379189A>C							p.I235L	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			2	767	+		Myeloproliferative disorder(115;0.0122)	235			Helical; (Potential).		A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.703A>C	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891429	0.33442	.	.	ENSG00000124249	ENST00000372861	T	0.29142	1.58	4.65	4.65	0.58169	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	L	0.28649	0.875	0.52501	D	0.999954	B	0.12630	0.006	B	0.18871	0.023	T	0.04140	-1.0974	10	0.45353	T	0.12	.	14.2456	0.65986	1.0:0.0:0.0:0.0	.	235	Q9H427	KCNKF_HUMAN	L	235	ENSP00000361952:I235L	ENSP00000361952:I235L	I	+	1	0	KCNK15	42812603	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	8.608000	0.90895	1.952000	0.56665	0.533000	0.62120	ATT		0.706	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2		NM_182970		46	193	0	0	0	0.01441	0	46	193		
PI3	5266	broad.mit.edu	37	20	43804728	43804728	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:43804728G>A	ENST00000243924.3	+	2	353	c.306G>A	c.(304-306)aaG>aaA	p.K102K		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	102	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				copulation (GO:0007620)|negative regulation of endopeptidase activity (GO:0010951)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CAGGAATCAAGAAGTGCTGTG	0.542																																						uc002xng.2		NaN																	0					0						c.(304-306)AAG>AAA		elafin preproprotein							111.0	101.0	104.0					20																	43804728		2203	4300	6503	SO:0001819	synonymous_variant	5266				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	g.chr20:43804728G>A	D13156	CCDS13344.1	20q13.12	2013-01-21	2008-10-03		ENSG00000124102	ENSG00000124102		"""WAP four-disulfide core domain containing"""	8947	protein-coding gene	gene with protein product	"""skin-derived antileukoproteinase"", ""trappin-2"""	182257	"""protease inhibitor 3, skin-derived (SKALP)"""			8287685, 12206714	Standard	NM_002638		Approved	ESI, SKALP, ELAFIN, WAP3, WFDC14, cementoin	uc002xng.3	P19957	OTTHUMG00000032567	ENST00000243924.3:c.306G>A	20.37:g.43804728G>A							p.K102K	NM_002638	NP_002629	P19957	ELAF_HUMAN			2	330	+		Myeloproliferative disorder(115;0.0122)	102			WAP.		E1P618|Q6FG74	Silent	SNP	ENST00000243924.3	37	c.306G>A	CCDS13344.1																																																																																				0.542	PI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079418.3		NM_002638		16	134	0	0	0	0.00499	0	16	134		
NCOA3	8202	broad.mit.edu	37	20	46279914	46279914	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:46279914C>T	ENST00000371998.3	+	20	4031	c.3840C>T	c.(3838-3840)ttC>ttT	p.F1280F	NCOA3_ENST00000372004.3_Silent_p.F1276F|NCOA3_ENST00000371997.3_Silent_p.F1271F|NCOA3_ENST00000341724.6_Silent_p.F1206F			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1280	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|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)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCAGGCCTTCAGCCCACCTC	0.567																																						uc002xtk.2		NaN																	0				ovary(3)|lung(1)|skin(1)	5						c.(3838-3840)TTC>TTT		nuclear receptor coactivator 3 isoform a							111.0	108.0	109.0					20																	46279914		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279914C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3840C>T	20.37:g.46279914C>T						NCOA3_uc010ght.1_Silent_p.F1271F|NCOA3_uc002xtl.2_Silent_p.F1276F|NCOA3_uc002xtm.2_Silent_p.F1275F|NCOA3_uc002xtn.2_Silent_p.F1279F|NCOA3_uc010zyc.1_Silent_p.F1075F	p.F1280F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			20	4045	+			1280			Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3840C>T	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		25	100	0	0	0	0.01892	0	25	100		
PREX1	57580	broad.mit.edu	37	20	47274684	47274684	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:47274684G>A	ENST00000371941.3	-	17	1986	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	PREX1_ENST00000396220.1_Missense_Mutation_p.S655L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	655	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCAGCCAGCGAGCCCCTCTG	0.657											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xtw.1		NaN																	0				lung(3)|ovary(2)|pancreas(1)	6						c.(1963-1965)TCG>TTG		phosphatidylinositol-3,4,							264.0	251.0	255.0					20																	47274684		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47274684G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1964C>T	20.37:g.47274684G>A	ENSP00000361009:p.Ser655Leu		OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PREX1_uc002xtv.1_5'Flank	p.S655L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		17	1987	-			655			PDZ.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1964C>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190555	0.78789	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.25912	1.77;1.77	4.98	4.98	0.66077	PDZ/DHR/GLGF (3);	0.264388	0.25994	U	0.026982	T	0.26557	0.0649	L	0.36672	1.1	0.80722	D	1	D	0.53462	0.96	B	0.43103	0.408	T	0.07849	-1.0751	10	0.87932	D	0	.	18.2743	0.90078	0.0:0.0:1.0:0.0	.	655	Q8TCU6	PREX1_HUMAN	L	655	ENSP00000361009:S655L;ENSP00000379522:S655L	ENSP00000361009:S655L	S	-	2	0	PREX1	46708091	1.000000	0.71417	0.895000	0.35142	0.235000	0.25334	9.230000	0.95299	2.284000	0.76573	0.655000	0.94253	TCG		0.657	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1		NM_020820		285	545	0	0	0	0.01441	0	285	545		
SLC9A8	23315	broad.mit.edu	37	20	48503325	48503325	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:48503325A>G	ENST00000361573.2	+	15	1570	c.1528A>G	c.(1528-1530)Acg>Gcg	p.T510A	SLC9A8_ENST00000490250.1_3'UTR|SLC9A8_ENST00000541138.1_Missense_Mutation_p.T210A|SLC9A8_ENST00000417961.1_Missense_Mutation_p.T526A|SLC9A8_ENST00000539601.1_Missense_Mutation_p.T291A			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	510					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTCGGAGCTCACGGAGGAGGA	0.647																																						uc002xuv.1		NaN																	0				ovary(1)	1						c.(1528-1530)ACG>GCG		sodium/hydrogen exchanger 8							115.0	91.0	99.0					20																	48503325		2203	4300	6503	SO:0001583	missense	23315					Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr20:48503325A>G	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1528A>G	20.37:g.48503325A>G	ENSP00000354966:p.Thr510Ala					SLC9A8_uc010zym.1_Missense_Mutation_p.T210A|SLC9A8_uc010gid.2_Missense_Mutation_p.T134A	p.T510A	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	BRCA - Breast invasive adenocarcinoma(9;3.91e-07)		15	1738	+			510					B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	ENST00000361573.2	37	c.1528A>G	CCDS13421.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626007	0.87560	.	.	ENSG00000197818	ENST00000417961;ENST00000361573;ENST00000541138;ENST00000539601	T;T	0.64260	-0.09;-0.09	4.82	4.82	0.62117	.	0.095747	0.64402	D	0.000001	T	0.70850	0.3271	M	0.69823	2.125	0.80722	D	1	D;D	0.64830	0.994;0.97	P;P	0.56700	0.804;0.718	T	0.68614	-0.5362	10	0.15499	T	0.54	.	14.683	0.69031	1.0:0.0:0.0:0.0	.	210;510	B4DIV9;Q9Y2E8	.;SL9A8_HUMAN	A	526;510;210;291	ENSP00000416418:T526A;ENSP00000354966:T510A	ENSP00000354966:T510A	T	+	1	0	SLC9A8	47936732	1.000000	0.71417	0.990000	0.47175	0.768000	0.43524	9.078000	0.94023	1.939000	0.56221	0.459000	0.35465	ACG		0.647	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3		XM_030524		100	100	0	0	0	0.01441	0	100	100		
PCK1	5105	broad.mit.edu	37	20	56136482	56136482	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:56136482G>A	ENST00000319441.4	+	2	179	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PCK1_ENST00000535860.1_5'Flank|PCK1_ENST00000543666.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	5					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTCCTCAGCTGCAAAACGGCC	0.527																																						uc002xyn.3		NaN																	0				skin(1)	1						c.(13-15)CTG>CTA		cytosolic phosphoenolpyruvate carboxykinase 1							93.0	91.0	92.0					20																	56136482		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56136482G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.15G>A	20.37:g.56136482G>A						PCK1_uc010zzm.1_5'UTR	p.L5L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		2	178	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		5					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.15G>A	CCDS13460.1																																																																																				0.527	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2				38	227	0	0	0	0.010771	0	38	227		
GNAS	2778	broad.mit.edu	37	20	57429712	57429712	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:57429712T>A	ENST00000371100.4	+	1	1944	c.1392T>A	c.(1390-1392)gaT>gaA	p.D464E	GNAS_ENST00000371102.4_Missense_Mutation_p.D464E|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.D464E|GNAS_ENST00000306120.3_Missense_Mutation_p.I401N|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCCAGCCGATCCAGATGCCG	0.796			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NaN		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(1390-1392)GAT>GAA		GNAS complex locus XLas							1.0	2.0	1.0					20																	57429712		595	1684	2279	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429712T>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1392T>A	20.37:g.57429712T>A	ENSP00000360141:p.Asp464Glu	TSP Lung(22;0.16)				GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.D464E	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1677	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1392T>A	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.55|12.55	1.972916|1.972916	0.34848|0.34848	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.87650|.	-2.28;-2.24|.	4.72|4.72	-2.41|-2.41	0.06562|0.06562	.|.	34.188800|.	0.00710|.	N|.	0.000825|.	T|T	0.25121|0.25121	0.0610|0.0610	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.28459|0.28459	-1.0043|-1.0043	10|6	0.02654|0.37606	T|T	1|0.19	.|.	4.8296|4.8296	0.13434|0.13434	0.0:0.2537:0.2833:0.463|0.0:0.2537:0.2833:0.463	.|.	464|.	Q5JWF2|.	GNAS1_HUMAN|.	E|N	464|401	ENSP00000360141:D464E;ENSP00000360143:D464E|.	ENSP00000360140:D464E|ENSP00000302237:I401N	D|I	+|+	3|2	2|0	GNAS|GNAS	56863107|56863107	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.193000|0.193000	0.23685|0.23685	-0.949000|-0.949000	0.03893|0.03893	-0.699000|-0.699000	0.05077|0.05077	0.379000|0.379000	0.24179|0.24179	GAT|ATC		0.796	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3		NM_000516		7	3	0	0	0	0.001984	0	7	3		
HELZ2	85441	broad.mit.edu	37	20	62196310	62196310	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62196310C>G	ENST00000467148.1	-	8	3934	c.3865G>C	c.(3865-3867)Gag>Cag	p.E1289Q	HELZ2_ENST00000427522.2_Missense_Mutation_p.E720Q	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1289					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGCTGGCCTCAGGCAGCACC	0.672																																						uc002yfm.2		NaN																	0				central_nervous_system(2)	2						c.(3865-3867)GAG>CAG		PPAR-alpha interacting complex protein 285							18.0	20.0	19.0					20																	62196310		2183	4292	6475	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62196310C>G	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3865G>C	20.37:g.62196310C>G	ENSP00000417401:p.Glu1289Gln					PRIC285_uc002yfl.1_Missense_Mutation_p.E720Q	p.E1289Q	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		9	4757	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1289					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3865G>C	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	4.094	0.015483	0.07959	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.29917	1.55;1.55	4.54	-0.162	0.13367	.	1.070250	0.07197	N	0.856723	T	0.17959	0.0431	L	0.27053	0.805	0.09310	N	1	B;B	0.18741	0.018;0.03	B;B	0.13407	0.004;0.009	T	0.31447	-0.9943	10	0.15952	T	0.53	-16.4366	5.2421	0.15477	0.1275:0.454:0.3334:0.0851	.	1289;720	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	Q	720;1289	ENSP00000393257:E720Q;ENSP00000417401:E1289Q	ENSP00000393257:E720Q	E	-	1	0	RP4-697K14.7	61666754	0.000000	0.05858	0.333000	0.25482	0.779000	0.44077	0.895000	0.28363	0.337000	0.23665	0.491000	0.48974	GAG		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335		9	51	0	0	0	0.004482	0	9	51		
UCKL1	54963	broad.mit.edu	37	20	62571633	62571633	+	Silent	SNP	G	G	A	rs576751215		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62571633G>A	ENST00000354216.6	-	14	1479	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.I479I|UCKL1_ENST00000369908.5_Silent_p.I464I|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	479					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACAGCAAAAAGATCTTGTCCT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		19807	0.0		0.0	False		,,,				2504	0.001					uc010gkn.2		NaN																	0					0						c.(1435-1437)ATC>ATT		uridine-cytidine kinase 1-like 1							116.0	90.0	99.0					20																	62571633		2199	4295	6494	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571633G>A	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1437C>T	20.37:g.62571633G>A						UCKL1_uc002yhj.2_Silent_p.I122I|UCKL1_uc011abm.1_Silent_p.I464I|UCKL1_uc011abn.1_RNA	p.I479I	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			14	1480	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		479					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1437C>T	CCDS13547.1																																																																																				0.587	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1		NM_017859		34	53	0	0	0	0.021022	0	34	53		
ZNF512B	57473	broad.mit.edu	37	20	62624835	62624835	+	Intron	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr20:62624835C>G	ENST00000450537.1	-	2	56				PRPF6_ENST00000535781.1_Silent_p.L145L|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCTCAGACCTCAAGGTGAGCC	0.463																																						uc002yho.2		NaN																	0				ovary(2)	2						c.(433-435)CTC>CTG		PRP6 pre-mRNA processing factor 6 homolog							113.0	89.0	97.0					20																	62624835		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62624835C>G	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-25527G>C	20.37:g.62624835C>G						PRPF6_uc002yhp.2_Silent_p.L145L	p.L145L	NM_012469	NP_036601	O94906	PRP6_HUMAN			4	603	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		145					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.435C>G	CCDS13548.1																																																																																				0.463	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713		23	38	0	0	0	0.004656	0	23	38		
HSPA13	6782	broad.mit.edu	37	21	15746243	15746243	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:15746243C>G	ENST00000285667.3	-	5	1178	c.1111G>C	c.(1111-1113)Gat>Cat	p.D371H	HSPA13_ENST00000544452.1_Missense_Mutation_p.D163H	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	371						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTAAGGGTATCAAAGAGTTTC	0.408																																						uc002yjt.2		NaN																	0				kidney(1)	1						c.(1111-1113)GAT>CAT		heat shock protein 70kDa family member 13							139.0	150.0	147.0					21																	15746243		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15746243C>G		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1111G>C	21.37:g.15746243C>G	ENSP00000285667:p.Asp371His					HSPA13_uc011abx.1_Missense_Mutation_p.D163H	p.D371H	NM_006948	NP_008879	P48723	HSP13_HUMAN			5	1180	-			371					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.1111G>C	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642256	0.47153	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.01043	5.41;5.41	5.66	4.77	0.60923	.	0.088255	0.85682	D	0.000000	T	0.04048	0.0113	L	0.56199	1.76	0.49915	D	0.999833	P	0.42518	0.782	P	0.53988	0.739	T	0.44190	-0.9344	10	0.87932	D	0	-17.8079	15.3148	0.74065	0.0:0.9319:0.0:0.0681	.	371	P48723	HSP13_HUMAN	H	371;163	ENSP00000285667:D371H;ENSP00000441986:D163H	ENSP00000285667:D371H	D	-	1	0	HSPA13	14668114	1.000000	0.71417	0.985000	0.45067	0.144000	0.21451	5.861000	0.69553	1.504000	0.48704	0.650000	0.86243	GAT		0.408	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1				40	115	0	0	0	0.007835	0	40	115		
KRTAP13-3	337960	broad.mit.edu	37	21	31798111	31798111	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:31798111G>A	ENST00000390690.2	-	1	175	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	40						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TGGGAGAGCAGAGGTCAGTGC	0.582																																						uc002yob.1		NaN																	0				ovary(1)|lung(1)	2						c.(118-120)CTC>CTT		keratin associated protein 13-3							68.0	75.0	72.0					21																	31798111		2203	4300	6503	SO:0001819	synonymous_variant	337960					intermediate filament		g.chr21:31798111G>A	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.120C>T	21.37:g.31798111G>A							p.L40L	NM_181622	NP_853653	Q3SY46	KR133_HUMAN			1	120	-			40					Q3LI78	Silent	SNP	ENST00000390690.2	37	c.120C>T	CCDS13591.1																																																																																				0.582	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2				8	82	0	0	0	0.004482	0	8	82		
SON	6651	broad.mit.edu	37	21	34927545	34927545	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:34927545C>T	ENST00000356577.4	+	3	6483	c.6008C>T	c.(6007-6009)tCt>tTt	p.S2003F	SON_ENST00000290239.6_Missense_Mutation_p.S2003F|SON_ENST00000381679.4_Missense_Mutation_p.S2003F|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S2003F	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2003	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				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						AGATCAAGGTCTGTGGTAAGA	0.607																																						uc002yse.1		NaN																	0				ovary(4)|skin(2)	6						c.(6007-6009)TCT>TTT		SON DNA-binding protein isoform F							74.0	71.0	72.0					21																	34927545		2203	4300	6503	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.chr21:34927545C>T	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.6008C>T	21.37:g.34927545C>T	ENSP00000348984:p.Ser2003Phe					SON_uc002ysb.1_Missense_Mutation_p.S2003F|SON_uc002ysc.2_Missense_Mutation_p.S2003F|SON_uc002ysd.2_Missense_Mutation_p.S994F|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S994F	p.S2003F	NM_138927	NP_620305	P18583	SON_HUMAN			3	6057	+			2003			2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|3-2.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6008C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928512	0.34002	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679;ENST00000421541	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.52	3.69	0.42338	.	0.128661	0.36167	N	0.002754	T	0.11196	0.0273	N	0.08118	0	0.39771	D	0.972168	B;B;B;B;B	0.15930	0.015;0.003;0.015;0.015;0.015	B;B;B;B;B	0.16289	0.015;0.004;0.009;0.009;0.009	T	0.07927	-1.0747	10	0.87932	D	0	.	9.7459	0.40446	0.0:0.7812:0.1421:0.0767	.	2003;2003;1684;2003;2003	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	F	2003;2003;2003;2003;64	ENSP00000348984:S2003F;ENSP00000290239:S2003F;ENSP00000300278:S2003F;ENSP00000371095:S2003F	ENSP00000290239:S2003F	S	+	2	0	SON	33849415	1.000000	0.71417	0.999000	0.59377	0.873000	0.50193	3.684000	0.54671	0.707000	0.31934	0.650000	0.86243	TCT		0.607	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2		NM_138927		25	126	0	0	0	0.004656	0	25	126		
DOPEY2	9980	broad.mit.edu	37	21	37602841	37602841	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:37602841G>C	ENST00000399151.3	+	14	1844	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	587					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCTGAAGTCTGAGGACAGTGG	0.507																																						uc002yvg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1759-1761)GAG>CAG		pad-1-like							91.0	85.0	87.0					21																	37602841		2203	4300	6503	SO:0001583	missense	9980				endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		g.chr21:37602841G>C	AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1759G>C	21.37:g.37602841G>C	ENSP00000382104:p.Glu587Gln					DOPEY2_uc011aeb.1_Missense_Mutation_p.E587Q	p.E587Q	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN			14	1838	+			587					D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	ENST00000399151.3	37	c.1759G>C	CCDS13643.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526506	0.85600	.	.	ENSG00000142197	ENST00000399151	T	0.14640	2.49	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	M	0.65498	2.005	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.974	T	0.01786	-1.1274	10	0.20519	T	0.43	.	19.589	0.95499	0.0:0.0:1.0:0.0	.	587;587	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	Q	587	ENSP00000382104:E587Q	ENSP00000382104:E587Q	E	+	1	0	DOPEY2	36524711	1.000000	0.71417	0.969000	0.41365	0.916000	0.54674	9.285000	0.95894	2.709000	0.92574	0.491000	0.48974	GAG		0.507	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194636.1		NM_005128		29	137	0	0	0	0.007291	0	29	137		
DSCR3	10311	broad.mit.edu	37	21	38612875	38612875	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:38612875C>G	ENST00000309117.6	-	2	360	c.123G>C	c.(121-123)ttG>ttC	p.L41F	DSCR3_ENST00000476950.1_Missense_Mutation_p.L41F|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000288304.5_5'UTR|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000539844.1_Missense_Mutation_p.L41F|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000398998.1_Intron	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	41						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						CTTCCATGGTCAAAGACACTC	0.443																																						uc002ywf.1		NaN																	0					0						c.(121-123)TTG>TTC		Down syndrome critical region protein 3							76.0	71.0	73.0					21																	38612875		2203	4300	6503	SO:0001583	missense	10311				vacuolar transport	nucleus|retromer complex		g.chr21:38612875C>G	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.123G>C	21.37:g.38612875C>G	ENSP00000311399:p.Leu41Phe					DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_5'UTR|DSCR3_uc010gnl.2_Missense_Mutation_p.L41F|DSCR3_uc011aeg.1_Missense_Mutation_p.L41F|DSCR3_uc011aeh.1_Intron	p.L41F	NM_006052	NP_006043	O14972	DSCR3_HUMAN			3	362	-			41					B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	ENST00000309117.6	37	c.123G>C	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.326915	0.10900	.	.	ENSG00000157538	ENST00000309117;ENST00000539844;ENST00000476950	T	0.09163	3.01	5.25	3.42	0.39159	.	0.000000	0.64402	D	0.000001	T	0.33614	0.0869	M	0.90369	3.11	0.80722	D	1	B;D;D	0.76494	0.007;0.997;0.999	B;D;D	0.78314	0.001;0.991;0.987	T	0.10776	-1.0615	10	0.87932	D	0	-7.2027	5.6776	0.17757	0.0:0.5932:0.1478:0.2589	.	41;41;41	B7Z606;B7Z6B1;O14972	.;.;DSCR3_HUMAN	F	41	ENSP00000311399:L41F	ENSP00000311399:L41F	L	-	3	2	DSCR3	37534745	0.994000	0.37717	0.615000	0.29064	0.002000	0.02628	0.221000	0.17680	1.358000	0.45922	-0.137000	0.14449	TTG		0.443	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1				4	96	0	0	0	0.014758	0	4	96		
LCA5L	150082	broad.mit.edu	37	21	40800153	40800153	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:40800153C>T	ENST00000358268.2	-	4	795	c.267G>A	c.(265-267)gtG>gtA	p.V89V	LCA5L_ENST00000485895.2_Silent_p.V89V|LCA5L_ENST00000380671.2_Silent_p.V89V|LCA5L_ENST00000288350.3_Silent_p.V89V			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	89										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTCTTTTACCACAGGCTGCT	0.323																																						uc002yxu.2		NaN																	0					0						c.(265-267)GTG>GTA		Leber congenital amaurosis 5-like							54.0	60.0	58.0					21																	40800153		2201	4300	6501	SO:0001819	synonymous_variant	150082							g.chr21:40800153C>T	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.267G>A	21.37:g.40800153C>T						LCA5L_uc002yxv.2_Silent_p.V89V|LCA5L_uc002yxw.1_Silent_p.V89V|LCA5L_uc002yxx.1_Intron|LCA5L_uc002yxy.2_RNA	p.V89V	NM_152505	NP_689718	O95447	LCA5L_HUMAN			4	580	-		Prostate(19;1.2e-06)	89					D3DSI0|Q3ZCT0	Silent	SNP	ENST00000358268.2	37	c.267G>A	CCDS13665.1																																																																																				0.323	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141807.2		NM_152505		54	107	0	0	0	0.01441	0	54	107		
UBASH3A	53347	broad.mit.edu	37	21	43833287	43833287	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:43833287G>A	ENST00000319294.6	+	4	540	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	UBASH3A_ENST00000398367.1_Missense_Mutation_p.R170Q|UBASH3A_ENST00000291535.6_Missense_Mutation_p.R170Q	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	170					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GACGTCATCCGGGAATTCGCC	0.622																																						uc002zbe.2		NaN																	0				ovary(3)	3						c.(508-510)CGG>CAG		ubiquitin associated and SH3 domain containing,							65.0	61.0	63.0					21																	43833287		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43833287G>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.509G>A	21.37:g.43833287G>A	ENSP00000317327:p.Arg170Gln					UBASH3A_uc002zbf.2_Missense_Mutation_p.R170Q|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.R170Q	p.R170Q	NM_018961	NP_061834	P57075	UBS3A_HUMAN			4	545	+			170					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.509G>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835986	0.50951	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.43294	0.95;0.95;0.95	5.35	4.47	0.54385	.	0.123990	0.36703	N	0.002457	T	0.43277	0.1240	M	0.71581	2.175	0.80722	D	1	D;D;P	0.56287	0.975;0.975;0.931	P;B;B	0.45474	0.482;0.396;0.24	T	0.46541	-0.9184	10	0.72032	D	0.01	-44.6483	6.4676	0.21990	0.3114:0.0:0.6886:0.0	.	170;170;170	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	Q	170	ENSP00000291535:R170Q;ENSP00000317327:R170Q;ENSP00000381408:R170Q	ENSP00000291535:R170Q	R	+	2	0	UBASH3A	42706356	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	4.187000	0.58344	1.254000	0.44035	0.609000	0.83330	CGG		0.622	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1		NM_001001895		20	139	0	0	0	0.016522	0	20	139		
LRRC3	81543	broad.mit.edu	37	21	45876889	45876889	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:45876889C>G	ENST00000291592.4	+	2	679	c.362C>G	c.(361-363)tCt>tGt	p.S121C	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	121						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CTGGACCTGTCTTACAACCGC	0.672																																						uc002zfa.2		NaN																	0					0						c.(361-363)TCT>TGT		leucine-rich repeat-containing 3 precursor							30.0	33.0	32.0					21																	45876889		2199	4294	6493	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45876889C>G	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.362C>G	21.37:g.45876889C>G	ENSP00000291592:p.Ser121Cys						p.S121C	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	655	+		Breast(209;0.00908)	121			LRR 3.		Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.362C>G	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705033	0.68615	.	.	ENSG00000160233	ENST00000291592;ENST00000471776	D	0.92446	-3.04	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.97142	0.9066	M	0.93150	3.385	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98081	1.0404	10	0.66056	D	0.02	-36.0934	17.9134	0.88942	0.0:1.0:0.0:0.0	.	121	Q9BY71	LRRC3_HUMAN	C	121	ENSP00000291592:S121C	ENSP00000291592:S121C	S	+	2	0	LRRC3	44701317	1.000000	0.71417	0.988000	0.46212	0.465000	0.32709	5.781000	0.68964	2.397000	0.81536	0.561000	0.74099	TCT		0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3				19	60	0	0	0	0.014323	0	19	60		
KRTAP10-10	353333	broad.mit.edu	37	21	46058039	46058039	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr21:46058039C>T	ENST00000380095.1	+	1	767	c.705C>T	c.(703-705)tgC>tgT	p.C235C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	235						keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCCCCGTGTGCTCCCGCCCTG	0.697																																						uc002zfq.2		NaN																	0					0						c.(703-705)TGC>TGT		keratin associated protein 10-10							51.0	55.0	54.0					21																	46058039		2203	4297	6500	SO:0001819	synonymous_variant	353333					keratin filament		g.chr21:46058039C>T	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.705C>T	21.37:g.46058039C>T						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C235C	NM_181688	NP_859016	P60014	KR10A_HUMAN			1	767	+			235						Silent	SNP	ENST00000380095.1	37	c.705C>T	CCDS33585.1																																																																																				0.697	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1		NM_181688		61	178	0	0	0	0.01441	0	61	178		
HIRA	7290	broad.mit.edu	37	22	19384471	19384471	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:19384471C>T	ENST00000263208.5	-	7	750		c.e7-1		HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTAGAATTTCTGTGAAGAAA	0.483																																						uc002zpf.1		NaN																	0				ovary(1)	1						c.e7-1		HIR histone cell cycle regulation defective							55.0	55.0	55.0					22																	19384471		2203	4300	6503	SO:0001630	splice_region_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19384471C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.494-1G>A	22.37:g.19384471C>T						HIRA_uc011agx.1_Splice_Site_p.E31_splice|HIRA_uc010grn.1_Splice_Site_p.E165_splice|HIRA_uc010gro.1_Splice_Site_p.E121_splice|HIRA_uc010grp.2_Splice_Site	p.E165_splice	NM_003325	NP_003316	P54198	HIRA_HUMAN			7	714	-	Colorectal(54;0.0993)							Q05BU9|Q8IXN2	Splice_Site	SNP	ENST00000263208.5	37	c.494_splice	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845940	0.91277	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3562	0.94414	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HIRA	17764471	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.119000	0.77145	2.804000	0.96469	0.655000	0.94253	.		0.483	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2		NM_003325	Intron	13	64	0	0	0	0.016723	0	13	64		
ARVCF	421	broad.mit.edu	37	22	19967410	19967410	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:19967410G>A	ENST00000263207.3	-	6	1543	c.1252C>T	c.(1252-1254)Cgc>Tgc	p.R418C	ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406522.1_Missense_Mutation_p.R355C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R355C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R418C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R355C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	418					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGGCCCGGCGCCGCACCTCA	0.687																																						uc002zqz.2		NaN																	0				liver(1)	1						c.(1252-1254)CGC>TGC		armadillo repeat protein							22.0	21.0	22.0					22																	19967410		2182	4282	6464	SO:0001583	missense	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19967410G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1252C>T	22.37:g.19967410G>A	ENSP00000263207:p.Arg418Cys					ARVCF_uc002zqy.2_5'Flank	p.R418C	NM_001670	NP_001661	O00192	ARVC_HUMAN			6	1523	-	Colorectal(54;0.0993)		418			ARM 2.		B7WNV2	Missense_Mutation	SNP	ENST00000263207.3	37	c.1252C>T	CCDS13771.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664725	0.88251	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.85596	0.1249	9	.	.	.	-20.0163	17.8527	0.88752	0.0:0.0:1.0:0.0	.	418	O00192	ARVC_HUMAN	C	418;355;355;355;418	ENSP00000263207:R418C;ENSP00000342042:R355C;ENSP00000384341:R355C;ENSP00000384732:R355C;ENSP00000385444:R418C	.	R	-	1	0	ARVCF	18347410	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.146000	0.50631	2.531000	0.85337	0.650000	0.86243	CGC		0.687	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5		NM_001670		5	14	0	0	0	0.001168	0	5	14		
CABIN1	23523	broad.mit.edu	37	22	24439456	24439456	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:24439456G>A	ENST00000398319.2	+	6	821	c.436G>A	c.(436-438)Gct>Act	p.A146T	CABIN1_ENST00000405822.2_Missense_Mutation_p.A146T|CABIN1_ENST00000263119.5_Missense_Mutation_p.A146T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	146					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						GGCTCGCCATGCTTTTGAGGA	0.537																																						uc002zzi.1		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(436-438)GCT>ACT		calcineurin binding protein 1							141.0	118.0	126.0					22																	24439456		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24439456G>A	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.436G>A	22.37:g.24439456G>A	ENSP00000381364:p.Ala146Thr					CABIN1_uc002zzj.1_Missense_Mutation_p.A146T|CABIN1_uc002zzl.1_Missense_Mutation_p.A146T|CABIN1_uc010guk.1_Missense_Mutation_p.A101T|CABIN1_uc002zzk.1_Missense_Mutation_p.A101T	p.A146T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			6	563	+			146			TPR 3.		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.436G>A	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	34	5.348354	0.95807	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.74526	-0.85;0.2;0.2;-0.85;0.2	5.21	5.21	0.72293	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.050696	0.85682	D	0.000000	D	0.86727	0.6002	M	0.79614	2.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.998	D;D;D;D	0.85130	0.995;0.984;0.996;0.997	D	0.87960	0.2729	10	0.72032	D	0.01	.	18.1901	0.89804	0.0:0.0:1.0:0.0	.	101;146;146;146	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	T	101;146;146;101;146;146	ENSP00000394209:A101T;ENSP00000263119:A146T;ENSP00000384694:A146T;ENSP00000412389:A101T;ENSP00000381364:A146T	ENSP00000263119:A146T	A	+	1	0	CABIN1	22769456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.729000	0.98795	2.630000	0.89119	0.558000	0.71614	GCT		0.537	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295		22	83	0	0	0	0.014323	0	22	83		
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NaN	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			8	Substitution - coding silent(8)	p.S372S(1)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1114-1116)TCC>TCT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S	p.S372S	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1188	-			372			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.1116C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1		NM_001005735		8	55	0	0	0	0.006122	0	8	55		
PATZ1	23598	broad.mit.edu	37	22	31731850	31731850	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:31731850C>G	ENST00000266269.5	-	3	1965		c.e3-1		RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Splice_Site|PATZ1_ENST00000351933.4_Splice_Site|RP3-400N23.6_ENST00000440456.1_RNA	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1						male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CATTGCAGGTCTGAAGGCAGA	0.552																																						uc003akq.2		NaN																EWSR1/PATZ1(2)	0				soft_tissue(2)	2						c.e3-1		POZ (BTB) and AT hook containing zinc finger 1							59.0	50.0	53.0					22																	31731850		2203	4300	6503	SO:0001630	splice_region_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31731850C>G	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1336-1G>C	22.37:g.31731850C>G						PATZ1_uc003akp.2_Splice_Site_p.T446_splice|PATZ1_uc003akr.2_Splice_Site_p.T446_splice	p.T446_splice	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			3	1997	-								Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Splice_Site	SNP	ENST00000266269.5	37	c.1336_splice	CCDS13894.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067722	0.76301	.	.	ENSG00000100105	ENST00000266269;ENST00000405309;ENST00000351933	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0252	0.89266	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PATZ1	30061850	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.818000	0.86416	2.504000	0.84457	0.563000	0.77884	.		0.552	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1		NM_032052	Intron	4	76	0	0	0	0.009096	0	4	76		
L3MBTL2	83746	broad.mit.edu	37	22	41625593	41625593	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:41625593G>A	ENST00000216237.5	+	16	2096	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	CHADL_ENST00000216241.9_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	646					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGGTCCAAGAAGCCCCTGC	0.557																																						uc003azo.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1936-1938)AAG>AAA		l(3)mbt-like 2							49.0	51.0	50.0					22																	41625593		2203	4300	6503	SO:0001819	synonymous_variant	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41625593G>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1938G>A	22.37:g.41625593G>A						L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_3'UTR|CHADL_uc010gyj.2_3'UTR	p.K646K	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN			16	1992	+			646					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	ENST00000216237.5	37	c.1938G>A	CCDS14011.1																																																																																				0.557	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1		NM_031488		15	40	0	0	0	0.020292	0	15	40		
PARVB	29780	broad.mit.edu	37	22	44514968	44514968	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:44514968G>A	ENST00000338758.7	+	4	387	c.324G>A	c.(322-324)gtG>gtA	p.V108V	PARVB_ENST00000406477.3_Silent_p.V141V|PARVB_ENST00000404989.1_Silent_p.V71V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	108	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGATCATTGTGAAGCAGCTGG	0.587																																						uc003ben.2		NaN																	0					0						c.(322-324)GTG>GTA		parvin, beta isoform b							200.0	169.0	179.0					22																	44514968		2203	4300	6503	SO:0001819	synonymous_variant	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44514968G>A	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.324G>A	22.37:g.44514968G>A						PARVB_uc003bem.2_Silent_p.V141V|PARVB_uc010gzn.2_Silent_p.V56V|PARVB_uc003beo.2_Silent_p.V71V	p.V108V	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN			4	376	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	108			CH 1.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	ENST00000338758.7	37	c.324G>A	CCDS14056.1																																																																																				0.587	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2		NM_001003828		48	149	0	0	0	0.01441	0	48	149		
FBLN1	2192	broad.mit.edu	37	22	45970446	45970446	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:45970446G>A	ENST00000327858.6	+	15	1848	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	FBLN1_ENST00000348697.2_Intron	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	585					embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCGCCCCAACGATGTCACATG	0.627																																						uc003bgj.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1753-1755)GAT>AAT		fibulin 1 isoform D							220.0	119.0	153.0					22																	45970446		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45970446G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1753G>A	22.37:g.45970446G>A	ENSP00000331544:p.Asp585Asn						p.D585N	NM_006486	NP_006477	P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	15	1900	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	585					B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1753G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275222	0.40194	.	.	ENSG00000077942	ENST00000327858	D	0.84298	-1.83	5.12	4.09	0.47781	.	0.312828	0.32868	N	0.005548	T	0.72779	0.3503	N	0.19112	0.55	0.80722	D	1	B	0.12013	0.005	B	0.08055	0.003	T	0.64491	-0.6395	10	0.11485	T	0.65	.	13.2061	0.59798	0.0:0.1759:0.8241:0.0	.	585	P23142	FBLN1_HUMAN	N	585	ENSP00000331544:D585N	ENSP00000331544:D585N	D	+	1	0	FBLN1	44349110	1.000000	0.71417	0.012000	0.15200	0.865000	0.49528	5.185000	0.65076	1.111000	0.41721	0.563000	0.77884	GAT		0.627	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1		NM_006486		12	47	0	0	0	0.013537	0	12	47		
PKDREJ	10343	broad.mit.edu	37	22	46655230	46655230	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:46655230C>G	ENST00000253255.5	-	1	3989	c.3990G>C	c.(3988-3990)caG>caC	p.Q1330H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1330	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAGCCATTTCTGGCATATGA	0.418																																						uc003bhh.2		NaN																	0				breast(3)|ovary(2)	5						c.(3988-3990)CAG>CAC		receptor for egg jelly-like protein precursor							106.0	99.0	102.0					22																	46655230		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655230C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3990G>C	22.37:g.46655230C>G	ENSP00000253255:p.Gln1330His						p.Q1330H	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3990	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1330			Cytoplasmic (Potential).|PLAT.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.3990G>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911619	0.33721	.	.	ENSG00000130943	ENST00000253255	T	0.65549	-0.16	5.09	-3.91	0.04168	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.116593	0.35936	N	0.002893	T	0.40979	0.1139	N	0.17248	0.465	0.09310	N	1	P	0.39601	0.68	B	0.41412	0.356	T	0.47249	-0.9132	10	0.62326	D	0.03	-14.7797	8.5539	0.33469	0.0:0.3478:0.4351:0.2171	.	1330	Q9NTG1	PKDRE_HUMAN	H	1330	ENSP00000253255:Q1330H	ENSP00000253255:Q1330H	Q	-	3	2	PKDREJ	45033894	0.000000	0.05858	0.084000	0.20598	0.956000	0.61745	-1.522000	0.02237	-0.234000	0.09782	0.511000	0.50034	CAG		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1		NM_006071		51	83	0	0	0	0.01441	0	51	83		
ZBED4	9889	broad.mit.edu	37	22	50277651	50277651	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50277651C>A	ENST00000216268.5	+	2	818	c.341C>A	c.(340-342)tCc>tAc	p.S114Y		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	114						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AACATGAGCTCCAGGAAGAAG	0.532																																						uc003bix.2		NaN																	0				ovary(2)	2						c.(340-342)TCC>TAC		zinc finger, BED-type containing 4							54.0	59.0	58.0					22																	50277651		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50277651C>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.341C>A	22.37:g.50277651C>A	ENSP00000216268:p.Ser114Tyr						p.S114Y	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	811	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	114					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.341C>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194059	0.78902	.	.	ENSG00000100426	ENST00000216268	T	0.50548	0.74	5.31	5.31	0.75309	.	0.208574	0.42053	D	0.000762	T	0.49304	0.1549	L	0.27053	0.805	0.43187	D	0.995017	D	0.61080	0.989	P	0.55667	0.781	T	0.50955	-0.8766	10	0.72032	D	0.01	-21.3517	14.0557	0.64767	0.1507:0.8493:0.0:0.0	.	114	O75132	ZBED4_HUMAN	Y	114	ENSP00000216268:S114Y	ENSP00000216268:S114Y	S	+	2	0	ZBED4	48663655	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.084000	0.64462	2.762000	0.94881	0.650000	0.86243	TCC		0.532	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2		NM_014838		26	67	1	0	9.39395e-14	0.00632	1.28991e-13	26	67		
PLXNB2	23654	broad.mit.edu	37	22	50722117	50722117	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50722117C>A	ENST00000449103.1	-	15	2624	c.2484G>T	c.(2482-2484)ttG>ttT	p.L828F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L828F|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	828	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTGGACGCCCAAATTGGACC	0.647																																						uc003bkv.3		NaN																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2482-2484)TTG>TTT		plexin B2 precursor							32.0	37.0	35.0					22																	50722117		1960	4124	6084	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50722117C>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2484G>T	22.37:g.50722117C>A	ENSP00000409171:p.Leu828Phe					PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	p.L828F	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	15	2590	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	828			Extracellular (Potential).|IPT/TIG 1.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.2484G>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020821	0.54576	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.66815	-0.23;-0.23	4.22	4.22	0.49857	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.171071	0.27366	N	0.019685	T	0.78362	0.4271	L	0.61036	1.89	0.45733	D	0.998636	D	0.76494	0.999	D	0.79784	0.993	T	0.79657	-0.1712	10	0.52906	T	0.07	.	14.1857	0.65605	0.0:1.0:0.0:0.0	.	828	O15031	PLXB2_HUMAN	F	828	ENSP00000409171:L828F;ENSP00000352288:L828F	ENSP00000352288:L828F	L	-	3	2	PLXNB2	49064244	0.998000	0.40836	0.946000	0.38457	0.311000	0.27955	0.730000	0.26043	2.193000	0.70182	0.485000	0.47835	TTG		0.647	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		12	34	1	0	3.07112e-06	0.010729	4.04274e-06	12	34		
ODF3B	440836	broad.mit.edu	37	22	50969699	50969699	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr22:50969699C>G	ENST00000428989.2	-	3	338	c.339G>C	c.(337-339)ggG>ggC	p.G113G	TYMP_ENST00000395681.1_5'Flank|TYMP_ENST00000252029.3_5'Flank|ODF3B_ENST00000401779.1_Missense_Mutation_p.E90Q|ODF3B_ENST00000403326.1_Silent_p.G45G|TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000329363.4_Silent_p.G113G|ODF3B_ENST00000405135.1_Missense_Mutation_p.E129Q			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	113										lung(2)	2						ACGTCGCGTTCCCCGCTCGCT	0.677																																						uc003bmh.2		NaN																	0					0						c.(337-339)GGG>GGC		outer dense fiber of sperm tails 3B							27.0	32.0	30.0					22																	50969699		2025	4157	6182	SO:0001819	synonymous_variant	440836							g.chr22:50969699C>G		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.339G>C	22.37:g.50969699C>G						TYMP_uc003bmb.3_5'Flank|TYMP_uc003bmc.3_5'Flank|TYMP_uc003bmd.3_5'Flank|TYMP_uc010hbd.2_5'Flank|TYMP_uc003bme.3_5'Flank|TYMP_uc003bmf.3_5'Flank|TYMP_uc011arz.1_5'Flank|ODF3B_uc003bmg.2_Missense_Mutation_p.E90Q	p.G113G	NM_001014440	NP_001014440	A8MYP8	ODF3B_HUMAN			4	476	-			113					A0PK18	Silent	SNP	ENST00000428989.2	37	c.339G>C	CCDS43039.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888125	0.72524	.	.	ENSG00000177989	ENST00000401779;ENST00000405135	T	0.35048	1.33	4.38	2.1	0.27182	.	.	.	.	.	T	0.37972	0.1023	.	.	.	0.19575	N	0.999968	D	0.54047	0.964	P	0.54210	0.745	T	0.12941	-1.0528	8	0.30854	T	0.27	-1.7379	4.8491	0.13528	0.0:0.6553:0.2222:0.1225	.	90	B5MD02	.	Q	90;129	ENSP00000384012:E129Q	ENSP00000384310:E90Q	E	-	1	0	ODF3B	49316565	0.009000	0.17119	0.498000	0.27564	0.932000	0.56968	0.089000	0.15002	1.152000	0.42452	0.561000	0.74099	GAA		0.677	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317626.2				12	40	0	0	0	0.016723	0	12	40		
CHL1	10752	broad.mit.edu	37	3	424356	424356	+	Splice_Site	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:424356T>A	ENST00000256509.2	+	18	2818		c.e18+2		CHL1_ENST00000397491.2_Splice_Site|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CACCAGCAGGTATGCAGGTTC	0.413																																						uc003bou.2		NaN																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.e17+2		cell adhesion molecule with homology to L1CAM							57.0	58.0	58.0					3																	424356		2203	4300	6503	SO:0001630	splice_region_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:424356T>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2176+2T>A	3.37:g.424356T>A						CHL1_uc003bot.2_Splice_Site_p.A726_splice|CHL1_uc003bow.1_Splice_Site_p.A710_splice|CHL1_uc011asi.1_Splice_Site_p.A726_splice|uc003box.1_RNA	p.A710_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	17	2399	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)						Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Splice_Site	SNP	ENST00000256509.2	37	c.2128_splice	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946738	0.53186	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4309	0.67249	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHL1	399356	1.000000	0.71417	0.907000	0.35723	0.573000	0.36030	7.043000	0.76572	1.855000	0.53841	0.482000	0.46254	.		0.413	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2		NM_006614	Intron	7	14	0	0	0	0.00308	0	7	14		
ITPR1	3708	broad.mit.edu	37	3	4715070	4715070	+	Splice_Site	SNP	G	G	A	rs200199463		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:4715070G>A	ENST00000443694.2	+	18	2410	c.2410G>A	c.(2410-2412)Gac>Aac	p.D804N	ITPR1_ENST00000354582.6_Splice_Site_p.D819N|ITPR1_ENST00000456211.2_Splice_Site_p.D804N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Splice_Site_p.D819N|ITPR1_ENST00000302640.8_Splice_Site_p.D804N|ITPR1_ENST00000357086.4_Splice_Site_p.D819N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	819					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CGCCATTGACGAGTGAGCCTG	0.498																																						uc003bqa.2		NaN																	0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(2455-2457)GAC>AAC		inositol 1,4,5-triphosphate receptor, type 1							105.0	106.0	106.0					3																	4715070		1942	4142	6084	SO:0001630	splice_region_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4715070G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2411+1G>A	3.37:g.4715070G>A						ITPR1_uc010hca.1_Missense_Mutation_p.D804N|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.D804N	p.D819N	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	21	2803	+			819			Cytoplasmic (Potential).		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2455G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799004	0.90538	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91996	-2.94;-2.95;-2.93;-2.93;-2.94;-2.94	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	M	0.66378	2.025	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	P;P;D	0.63793	0.887;0.863;0.918	D	0.94106	0.7366	10	0.41790	T	0.15	.	18.3862	0.90468	0.0:0.0:1.0:0.0	.	804;819;819	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	N	819;804;819;819;819;804;804	ENSP00000306253:D804N;ENSP00000346595:D819N;ENSP00000405934:D819N;ENSP00000349597:D819N;ENSP00000397885:D804N;ENSP00000401671:D804N	ENSP00000306253:D804N	D	+	1	0	ITPR1	4690070	1.000000	0.71417	0.984000	0.44739	0.601000	0.36947	9.511000	0.98006	2.739000	0.93911	0.491000	0.48974	GAC		0.498	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3		NM_002222	Missense_Mutation	27	141	0	0	0	0.010818	0	27	141		
BRPF1	7862	broad.mit.edu	37	3	9783835	9783835	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:9783835G>A	ENST00000457855.1	+	5	1992	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	BRPF1_ENST00000433861.2_Missense_Mutation_p.E661K|BRPF1_ENST00000383829.2_Missense_Mutation_p.E661K|BRPF1_ENST00000424362.1_Missense_Mutation_p.E661K|BRPF1_ENST00000302054.3_Missense_Mutation_p.E661K			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	661	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCCTCTGTCTGAGGTAACCGA	0.557																																						uc003bse.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1981-1983)GAG>AAG		bromodomain and PHD finger-containing protein 1							89.0	82.0	85.0					3																	9783835		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9783835G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1981G>A	3.37:g.9783835G>A	ENSP00000410210:p.Glu661Lys					BRPF1_uc003bsf.2_Missense_Mutation_p.E661K|BRPF1_uc003bsg.2_Missense_Mutation_p.E661K|BRPF1_uc011ati.1_Missense_Mutation_p.E661K	p.E661K	NM_004634	NP_004625	P55201	BRPF1_HUMAN			6	2380	+	Medulloblastoma(99;0.227)		661			Required for RUNX1 and RUNX2 transcriptional activation.|Interaction with MEAF6 and ING5.|Bromo.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1981G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	33	5.268609	0.95429	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.32023	1.47;1.47;3.76;1.47;1.47	5.32	5.32	0.75619	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.59689	0.2212	M	0.78049	2.395	0.80722	D	1	D;P;D;D	0.67145	0.995;0.861;0.981;0.996	D;P;D;D	0.85130	0.989;0.823;0.976;0.997	T	0.62511	-0.6839	10	0.62326	D	0.03	.	19.3647	0.94458	0.0:0.0:1.0:0.0	.	661;661;661;661	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	K	661	ENSP00000402485:E661K;ENSP00000398863:E661K;ENSP00000373340:E661K;ENSP00000306297:E661K;ENSP00000410210:E661K	ENSP00000306297:E661K	E	+	1	0	BRPF1	9758835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.633000	0.89246	0.655000	0.94253	GAG		0.557	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1		NM_001003694		21	89	0	0	0	0.014323	0	21	89		
JAGN1	84522	broad.mit.edu	37	3	9934620	9934620	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:9934620C>G	ENST00000307768.4	+	2	280	c.111C>G	c.(109-111)atC>atG	p.I37M	JAGN1_ENST00000489724.1_3'UTR	NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					AGTATGAAATCAAGAAGCTGA	0.473																																						uc003btt.3		NaN																	0				ovary(1)	1						c.(109-111)ATC>ATG		jagunal homolog 1							100.0	92.0	94.0					3																	9934620		2203	4300	6503	SO:0001583	missense	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934620C>G	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.111C>G	3.37:g.9934620C>G	ENSP00000306106:p.Ile37Met					CIDEC_uc003bto.2_Intron	p.I37M	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN			2	247	+	Medulloblastoma(99;0.227)		37			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000307768.4	37	c.111C>G	CCDS2588.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609925	0.46527	.	.	ENSG00000171135	ENST00000307768;ENST00000543379	.	.	.	5.24	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.59088	0.2168	M	0.67397	2.05	0.51482	D	0.999923	P	0.38617	0.64	B	0.40602	0.334	T	0.67039	-0.5771	9	0.72032	D	0.01	4.4088	14.4262	0.67218	0.0:0.9141:0.0:0.0859	.	37	Q8N5M9	JAGN1_HUMAN	M	37	.	ENSP00000306106:I37M	I	+	3	3	JAGN1	9909620	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.467000	0.35321	2.442000	0.82660	0.313000	0.20887	ATC		0.473	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1		NM_032492		5	86	0	0	0	0.014758	0	5	86		
RPL15	6138	broad.mit.edu	37	3	23959373	23959373	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:23959373A>G	ENST00000307839.5	+	2	662	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	RPL15_ENST00000456530.2_Missense_Mutation_p.Q8R|NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000412028.1_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000425478.2_5'Flank|RPL15_ENST00000415719.1_Missense_Mutation_p.Q8R|NKIRAS1_ENST00000415901.2_5'Flank|RPL15_ENST00000354811.5_Missense_Mutation_p.Q8R|RPL15_ENST00000413699.1_Missense_Mutation_p.Q8R|NKIRAS1_ENST00000416026.2_5'Flank|RPL15_ENST00000435882.1_Missense_Mutation_p.Q8R|NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000388759.3_5'Flank	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAGTACATCCAGGAGCTATGG	0.493																																						uc003ccn.2		NaN																	0				ovary(1)	1						c.(22-24)CAG>CGG		ribosomal protein L15							47.0	50.0	49.0					3																	23959373		2203	4299	6502	SO:0001583	missense	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23959373A>G	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"""L ribosomal proteins"""	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.23A>G	3.37:g.23959373A>G	ENSP00000309334:p.Gln8Arg					NKIRAS1_uc003cck.2_Intron|NKIRAS1_uc003ccj.2_5'Flank|NKIRAS1_uc003ccl.2_5'Flank|NKIRAS1_uc003ccm.2_5'Flank|RPL15_uc011awi.1_Missense_Mutation_p.Q8R|RPL15_uc011awj.1_Missense_Mutation_p.Q8R|RPL15_uc003cco.2_Missense_Mutation_p.Q8R|RPL15_uc003ccp.2_Missense_Mutation_p.Q8R|RPL15_uc003ccq.2_Missense_Mutation_p.Q8R|RPL15_uc003ccr.2_Missense_Mutation_p.Q8R	p.Q8R	NM_002948	NP_002939	P61313	RL15_HUMAN			2	59	+			8					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Missense_Mutation	SNP	ENST00000307839.5	37	c.23A>G	CCDS2640.1	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080843	0.55753	.	.	ENSG00000174748	ENST00000307839;ENST00000422218;ENST00000434031;ENST00000413699;ENST00000456530;ENST00000412097;ENST00000510788;ENST00000435882;ENST00000415719;ENST00000354811	.	.	.	5.77	4.6	0.57074	Ribosomal protein L23/L15e (1);	0.000000	0.64402	U	0.000002	T	0.63861	0.2547	L	0.42581	1.335	0.80722	D	1	P;B;B;B	0.40050	0.7;0.025;0.026;0.015	P;B;B;B	0.58391	0.838;0.049;0.086;0.084	T	0.56631	-0.7947	9	0.14656	T	0.56	.	12.2377	0.54524	0.8724:0.0:0.0:0.1276	.	8;8;8;8	B4DEN1;B4DLP4;Q642I1;P61313	.;.;.;RL15_HUMAN	R	8	.	ENSP00000309334:Q8R	Q	+	2	0	RPL15	23934377	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	9.283000	0.95860	0.991000	0.38814	-0.341000	0.08007	CAG		0.493	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3		NM_002948		25	46	0	0	0	0.007291	0	25	46		
OXSM	54995	broad.mit.edu	37	3	25832554	25832554	+	Missense_Mutation	SNP	C	C	A	rs368196737		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:25832554C>A	ENST00000280701.3	+	2	142	c.43C>A	c.(43-45)Cgt>Agt	p.R15S	OXSM_ENST00000420173.2_Missense_Mutation_p.R15S|NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000449808.1_3'UTR	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	15					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TACAAGCACTCGTCTTCTATG	0.388																																						uc003cdn.2		NaN																	0				ovary(1)|breast(1)	2						c.(43-45)CGT>AGT		3-oxoacyl-ACP synthase, mitochondrial isoform 1							96.0	101.0	99.0					3																	25832554		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832554C>A	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.43C>A	3.37:g.25832554C>A	ENSP00000280701:p.Arg15Ser					NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Missense_Mutation_p.R15S	p.R15S	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			2	150	+			15						Missense_Mutation	SNP	ENST00000280701.3	37	c.43C>A	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	8.653	0.898806	0.17686	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	4.84	3.9	0.45041	.	2.035180	0.01869	N	0.037076	T	0.27594	0.0678	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.07927	-1.0747	9	0.23302	T	0.38	-3.2482	10.196	0.43054	0.1491:0.7061:0.1448:0.0	.	15;15	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	S	15	.	ENSP00000280701:R15S	R	+	1	0	OXSM	25807558	0.001000	0.12720	0.007000	0.13788	0.603000	0.37013	1.094000	0.30951	2.666000	0.90696	0.561000	0.74099	CGT		0.388	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2		NM_017897		24	60	1	0	2.89027e-11	0.014323	3.92963e-11	24	60		
SLC4A7	9497	broad.mit.edu	37	3	27446455	27446455	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:27446455C>G	ENST00000295736.5	-	14	1985		c.e14-1		SLC4A7_ENST00000440156.1_Splice_Site|SLC4A7_ENST00000425128.2_Splice_Site|SLC4A7_ENST00000435667.2_Splice_Site|SLC4A7_ENST00000428386.1_Splice_Site|SLC4A7_ENST00000454389.1_Splice_Site|SLC4A7_ENST00000446700.1_Splice_Site|SLC4A7_ENST00000437179.1_Splice_Site|SLC4A7_ENST00000388777.4_Splice_Site|SLC4A7_ENST00000455077.1_Splice_Site|SLC4A7_ENST00000445684.1_Splice_Site	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7						auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CTATTGCACTCTGTTTAAGGA	0.353																																						uc003cdv.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.e14-1		solute carrier family 4, sodium bicarbonate							68.0	69.0	69.0					3																	27446455		2203	4300	6503	SO:0001630	splice_region_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27446455C>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1915-1G>C	3.37:g.27446455C>G						SLC4A7_uc011awu.1_Splice_Site|SLC4A7_uc011awv.1_Splice_Site|SLC4A7_uc003cdu.3_Splice_Site_p.S520_splice|SLC4A7_uc011aww.1_Splice_Site_p.S648_splice|SLC4A7_uc011awx.1_Splice_Site_p.S635_splice|SLC4A7_uc011awy.1_Splice_Site_p.S631_splice|SLC4A7_uc011awz.1_Splice_Site|SLC4A7_uc011axa.1_Splice_Site_p.S520_splice|SLC4A7_uc011axb.1_Splice_Site_p.S635_splice|SLC4A7_uc010hfl.2_Splice_Site_p.S189_splice|SLC4A7_uc003cdw.2_Splice_Site_p.S515_splice	p.S639_splice	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			14	1986	-								A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Splice_Site	SNP	ENST00000295736.5	37	c.1915_splice	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565281	0.86439	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6798	0.95958	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC4A7	27421459	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.642000	0.89623	0.467000	0.42956	.		0.353	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2		NM_003615	Intron	9	29	0	0	0	0.008291	0	9	29		
ZNF620	253639	broad.mit.edu	37	3	40553923	40553923	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:40553923C>G	ENST00000314529.6	+	4	331	c.182C>G	c.(181-183)tCc>tGc	p.S61C	ZNF620_ENST00000418905.1_Intron	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GTTCTGGTCTCCCAGCTGGAG	0.572																																						uc003ckk.2		NaN																	0				ovary(1)	1						c.(181-183)TCC>TGC		zinc finger protein 620							84.0	81.0	82.0					3																	40553923		2203	4300	6503	SO:0001583	missense	253639				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40553923C>G	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.182C>G	3.37:g.40553923C>G	ENSP00000322265:p.Ser61Cys					ZNF620_uc003ckl.2_Intron	p.S61C	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	4	331	+			61			KRAB.		Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	c.182C>G	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701962	0.68501	.	.	ENSG00000177842	ENST00000420891;ENST00000314529	T;T	0.00922	5.54;5.54	2.19	1.31	0.21738	Krueppel-associated box (3);	.	.	.	.	T	0.01765	0.0056	L	0.49126	1.545	0.80722	D	1	D	0.56521	0.976	P	0.51453	0.67	T	0.65932	-0.6048	9	0.59425	D	0.04	.	6.9738	0.24664	0.0:0.8499:0.0:0.1501	.	61	Q6ZNG0	ZN620_HUMAN	C	61	ENSP00000406156:S61C;ENSP00000322265:S61C	ENSP00000322265:S61C	S	+	2	0	ZNF620	40528927	0.174000	0.23070	0.981000	0.43875	0.883000	0.51084	1.439000	0.35013	0.476000	0.27440	0.557000	0.71058	TCC		0.572	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1		XM_171060		25	12	0	0	0	0.004656	0	25	12		
ULK4	54986	broad.mit.edu	37	3	41942279	41942280	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:41942279_41942280TC>AA	ENST00000301831.4	-	13	1686_1687	c.1224_1225GA>TT	c.(1222-1227)caGAtg>caTTtg	p.408_409QM>HL	ULK4_ENST00000420927.1_Missense_Mutation_p.408_409QM>HL|U8_ENST00000390843.2_RNA	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	408					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCTCTCTCATCTGGGATTCCA	0.411																																						uc003ckv.3		NaN																	0					0						c.(1222-1227)CAGATG>CATTTG		unc-51-like kinase 4																																				SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41942279_41942280TC>AA	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1224_1225delinsAA	3.37:g.41942279_41942280delinsAA	ENSP00000301831:p.Q408_M409delinsHL					ULK4_uc003ckw.2_Missense_Mutation_p.408_409QM>HL|ULK4_uc003ckx.1_Missense_Mutation_p.408_409QM>HL	p.408_409QM>HL	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	13	1425_1426	-			408_409					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	DNP	ENST00000301831.4	37	c.1224_1225GA>TT	CCDS43071.1																																																																																				0.411	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1		XM_929989		50	179	0	0	0	0.004672	0	50	179		
ZNF445	353274	broad.mit.edu	37	3	44488486	44488486	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:44488486C>T	ENST00000396077.2	-	8	3024	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	ZNF445_ENST00000425708.2_Missense_Mutation_p.E893K	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	893					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AAAGGTCTCTCTGTAGAGTGG	0.453																																						uc003cnf.2		NaN																	0				ovary(1)	1						c.(2677-2679)GAG>AAG		zinc finger protein 445							109.0	111.0	110.0					3																	44488486		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488486C>T	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2677G>A	3.37:g.44488486C>T	ENSP00000379387:p.Glu893Lys					ZNF445_uc011azv.1_Missense_Mutation_p.E881K|ZNF445_uc011azw.1_Missense_Mutation_p.E893K	p.E893K	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	8	3025	-			893					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2677G>A	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412677	0.83340	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.63913	-0.07;-0.07	4.06	4.06	0.47325	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.261705	0.27455	N	0.019285	T	0.58921	0.2156	L	0.46819	1.47	0.43021	D	0.994571	D;D	0.53312	0.959;0.959	P;P	0.48063	0.565;0.565	T	0.62378	-0.6867	10	0.56958	D	0.05	.	10.2194	0.43188	0.0:0.9021:0.0:0.0979	.	881;893	B7ZKX2;P59923	.;ZN445_HUMAN	K	893	ENSP00000413073:E893K;ENSP00000379387:E893K	ENSP00000379387:E893K	E	-	1	0	ZNF445	44463490	1.000000	0.71417	0.251000	0.24312	0.946000	0.59487	4.601000	0.61090	2.559000	0.86315	0.563000	0.77884	GAG		0.453	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2		NM_181489		27	95	0	0	0	0.007291	0	27	95		
ZNF502	91392	broad.mit.edu	37	3	44763893	44763893	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:44763893C>T	ENST00000296091.4	+	4	1840	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	ZNF502_ENST00000449836.1_Silent_p.F528F|ZNF502_ENST00000436624.2_Silent_p.F528F	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		GAAAGTTCTTCAGACATAGTT	0.413																																						uc011baa.1		NaN																	0					0						c.(1582-1584)TTC>TTT		zinc finger protein 502							100.0	95.0	97.0					3																	44763893		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44763893C>T	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1584C>T	3.37:g.44763893C>T						ZNF502_uc003cns.2_Silent_p.F528F|ZNF502_uc011bab.1_Silent_p.F528F|ZNF502_uc003cnt.2_Silent_p.F528F	p.F528F	NM_001134440	NP_001127912	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	1839	+			528			C2H2-type 14.			Silent	SNP	ENST00000296091.4	37	c.1584C>T	CCDS2719.1																																																																																				0.413	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4		NM_033210		9	41	0	0	0	0.004482	0	9	41		
DHX30	22907	broad.mit.edu	37	3	47887268	47887268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:47887268G>T	ENST00000445061.1	+	10	1425	c.1018G>T	c.(1018-1020)Gag>Tag	p.E340*	DHX30_ENST00000457607.1_Nonsense_Mutation_p.E368*|DHX30_ENST00000348968.4_Nonsense_Mutation_p.E312*|DHX30_ENST00000446256.2_Nonsense_Mutation_p.E301*	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	340						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGAGCTGGGTGAGACCCAGCG	0.597																																						uc003cru.2		NaN																	0				ovary(2)|skin(2)	4						c.(1018-1020)GAG>TAG		DEAH (Asp-Glu-Ala-His) box polypeptide 30							112.0	97.0	102.0					3																	47887268		2203	4300	6503	SO:0001587	stop_gained	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887268G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1018G>T	3.37:g.47887268G>T	ENSP00000405620:p.Glu340*					DHX30_uc003crt.2_Nonsense_Mutation_p.E301*|DHX30_uc010hjr.1_Nonsense_Mutation_p.E368*	p.E340*	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	10	1444	+			340					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Nonsense_Mutation	SNP	ENST00000445061.1	37	c.1018G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	41	9.032206	0.99042	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	.	.	.	5.38	5.38	0.77491	.	0.053888	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.1238	0.89580	0.0:0.0:1.0:0.0	.	.	.	.	X	301;340;312;368	.	ENSP00000343442:E312X	E	+	1	0	DHX30	47862272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.527000	0.85204	0.655000	0.94253	GAG		0.597	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2		NM_138615		35	26	1	0	6.05902e-23	0.017118	8.50317e-23	35	26		
COL7A1	1294	broad.mit.edu	37	3	48612135	48612135	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:48612135C>A	ENST00000328333.8	-	77	6475	c.6368G>T	c.(6367-6369)gGt>gTt	p.G2123V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2091V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2123	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCTTGGTCACCATTGCTGCC	0.597																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(6367-6369)GGT>GTT		alpha 1 type VII collagen precursor							72.0	74.0	73.0					3																	48612135		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612135C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6368G>T	3.37:g.48612135C>A	ENSP00000332371:p.Gly2123Val						p.G2123V	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	77	6369	-			2123			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6368G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	9.942	1.217659	0.22373	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99532	-6.1;-6.1	5.29	5.29	0.74685	.	0.000000	0.41097	D	0.000942	D	0.99816	0.9919	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96755	0.9557	10	0.87932	D	0	.	17.9122	0.88937	0.0:1.0:0.0:0.0	.	2123	Q02388	CO7A1_HUMAN	V	2123;2091	ENSP00000332371:G2123V;ENSP00000412569:G2091V	ENSP00000332371:G2123V	G	-	2	0	COL7A1	48587139	1.000000	0.71417	0.850000	0.33497	0.145000	0.21501	6.289000	0.72696	2.456000	0.83038	0.462000	0.41574	GGT		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		9	47	1	0	2.17888e-05	0.006214	2.82776e-05	9	47		
CELSR3	1951	broad.mit.edu	37	3	48698069	48698069	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:48698069C>A	ENST00000164024.4	-	1	2279	c.1999G>T	c.(1999-2001)Ggt>Tgt	p.G667C	CELSR3_ENST00000544264.1_Missense_Mutation_p.G667C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	667	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGAGTGACCCAAGGGAGCA	0.517																																						uc003cul.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(1999-2001)GGT>TGT		cadherin EGF LAG seven-pass G-type receptor 3							77.0	72.0	74.0					3																	48698069		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698069C>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1999G>T	3.37:g.48698069C>A	ENSP00000164024:p.Gly667Cys					CELSR3_uc003cuf.1_Missense_Mutation_p.G737C	p.G667C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2280	-			667			Extracellular (Potential).|Cadherin 4.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.1999G>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645540	0.67358	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.69306	-0.39;-0.39	5.84	5.84	0.93424	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.89584	0.6757	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92766	0.6228	9	0.87932	D	0	.	20.1342	0.98015	0.0:1.0:0.0:0.0	.	667;737	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	667	ENSP00000164024:G667C;ENSP00000445694:G667C	ENSP00000164024:G667C	G	-	1	0	CELSR3	48673073	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.767000	0.85331	2.754000	0.94517	0.655000	0.94253	GGT		0.517	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407		17	42	1	0	5.3912e-06	0.006122	7.052e-06	17	42		
USP4	7375	broad.mit.edu	37	3	49363263	49363263	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:49363263G>A	ENST00000265560.4	-	4	422	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L	USP4_ENST00000415188.1_Silent_p.L126L|USP4_ENST00000416417.1_Silent_p.L126L|USP4_ENST00000351842.4_Silent_p.L126L	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	126	Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TTGACAAACAGGCCATGCTCC	0.498																																						uc003cwq.2		NaN																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(376-378)CTG>TTG		ubiquitin specific protease 4 isoform a							157.0	141.0	146.0					3																	49363263		2203	4300	6503	SO:0001819	synonymous_variant	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49363263G>A	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.376C>T	3.37:g.49363263G>A						USP4_uc003cwr.2_Silent_p.L126L	p.L126L	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	4	455	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	126					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Silent	SNP	ENST00000265560.4	37	c.376C>T	CCDS2793.1																																																																																				0.498	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443		35	119	0	0	0	0.007835	0	35	119		
RHOA	387	broad.mit.edu	37	3	49400019	49400019	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:49400019G>C	ENST00000418115.1	-	4	702	c.318C>G	c.(316-318)ttC>ttG	p.F106L	RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000454011.2_Missense_Mutation_p.S66C|RHOA_ENST00000422781.1_Missense_Mutation_p.F106L	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	106					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.F106L(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTTGGGACAGAAATGCTTGA	0.443																																						uc003cwu.2		NaN																	1	Substitution - Missense(1)		cervix(1)	ovary(2)	2						c.(316-318)TTC>TTG		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						117.0	107.0	110.0					3																	49400019		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49400019G>C	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.318C>G	3.37:g.49400019G>C	ENSP00000400175:p.Phe106Leu					RHOA_uc010hku.2_Missense_Mutation_p.F25L	p.F106L	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	4	594	-			106					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.318C>G	CCDS2795.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.317561|5.317561	0.95682|0.95682	.|.	.|.	ENSG00000067560|ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425|ENST00000454011	T;T;T|T	0.75821|0.24538	-0.97;-0.97;-0.97|1.85	6.07|6.07	6.07|6.07	0.98685|0.98685	Small GTP-binding protein domain (1);|.	0.051069|.	0.85682|.	D|.	0.000000|.	T|T	0.39886|0.39886	0.1095|0.1095	L|L	0.41027|0.41027	1.25|1.25	0.80722|0.80722	D|D	1|1	B|.	0.28055|.	0.199|.	P|.	0.46659|.	0.523|.	T|T	0.03717|0.03717	-1.1010|-1.1010	10|7	0.72032|0.87932	D|D	0.01|0	.|.	19.222|19.222	0.93801|0.93801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	106|.	P61586|.	RHOA_HUMAN|.	L|C	106|66	ENSP00000400175:F106L;ENSP00000413587:F106L;ENSP00000408402:F106L|ENSP00000394483:S66C	ENSP00000400175:F106L|ENSP00000394483:S66C	F|S	-|-	3|2	2|0	RHOA|RHOA	49375023|49375023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.686000|5.686000	0.68211|0.68211	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	TTC|TCT		0.443	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3		NM_001664		46	46	0	0	0	0.01441	0	46	46		
DOCK3	1795	broad.mit.edu	37	3	51112865	51112865	+	Silent	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:51112865T>C	ENST00000266037.9	+	7	566	c.543T>C	c.(541-543)taT>taC	p.Y181Y		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	181					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGATCTCTATAAGATGGTAA	0.393																																						uc011bds.1		NaN																	0					0						c.(541-543)TAT>TAC		dedicator of cytokinesis 3							75.0	73.0	74.0					3																	51112865		1872	4104	5976	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51112865T>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.543T>C	3.37:g.51112865T>C							p.Y181Y	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	7	566	+			181					O15017	Silent	SNP	ENST00000266037.9	37	c.543T>C	CCDS46835.1																																																																																				0.393	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947		8	0	0	0	0	0.00308	0	8	0		
COL8A1	1295	broad.mit.edu	37	3	99513764	99513764	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:99513764G>A	ENST00000261037.3	+	5	1399	c.1019G>A	c.(1018-1020)gGg>gAg	p.G340E	COL8A1_ENST00000273342.4_Missense_Mutation_p.G340E	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	340	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGACTGCCAGGGCTACCAGGA	0.627																																						uc003dtg.1		NaN																	0					0						c.(1018-1020)GGG>GAG		alpha 1 type VIII collagen precursor							28.0	33.0	31.0					3																	99513764		2203	4299	6502	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513764G>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1019G>A	3.37:g.99513764G>A	ENSP00000261037:p.Gly340Glu					COL8A1_uc003dth.1_Missense_Mutation_p.G340E|COL8A1_uc003dti.1_Missense_Mutation_p.G341E	p.G340E	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	1264	+			340			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.1019G>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.989265	0.35131	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.96365	-3.99;-3.99	6.06	5.19	0.71726	.	0.048907	0.85682	D	0.000000	D	0.98513	0.9504	H	0.96720	3.87	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61658	0.892;0.892	D	0.99113	1.0847	10	0.87932	D	0	.	12.9048	0.58145	0.0777:0.0:0.9223:0.0	.	341;340	E7EPK9;P27658	.;CO8A1_HUMAN	E	340	ENSP00000261037:G340E;ENSP00000273342:G340E	ENSP00000261037:G340E	G	+	2	0	COL8A1	100996454	1.000000	0.71417	0.758000	0.31321	0.484000	0.33280	9.864000	0.99589	1.569000	0.49696	0.655000	0.94253	GGG		0.627	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1		NM_001850		4	62	0	0	0	0.009096	0	4	62		
GPR128	84873	broad.mit.edu	37	3	100362453	100362453	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:100362453C>G	ENST00000273352.3	+	8	1190	c.922C>G	c.(922-924)Cag>Gag	p.Q308E	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	308					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GACTGAGCTTCAGGTCTTGCT	0.363																																					Pancreas(87;185 1975 7223 18722)	uc003duc.2		NaN																	0				ovary(3)|skin(1)	4						c.(922-924)CAG>GAG		G protein-coupled receptor 128 precursor							92.0	88.0	89.0					3																	100362453		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362453C>G	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.922C>G	3.37:g.100362453C>G	ENSP00000273352:p.Gln308Glu					GPR128_uc011bhc.1_Intron	p.Q308E	NM_032787	NP_116176	Q96K78	GP128_HUMAN			8	1190	+			308			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.922C>G	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464693	0.43736	.	.	ENSG00000144820	ENST00000273352	T	0.38887	1.11	5.64	5.64	0.86602	.	0.000000	0.51477	D	0.000090	T	0.40956	0.1138	M	0.73598	2.24	0.80722	D	1	B	0.30236	0.274	B	0.30179	0.112	T	0.36962	-0.9726	10	0.02654	T	1	.	15.2125	0.73238	0.0:1.0:0.0:0.0	.	308	Q96K78	GP128_HUMAN	E	308	ENSP00000273352:Q308E	ENSP00000273352:Q308E	Q	+	1	0	GPR128	101845143	1.000000	0.71417	0.999000	0.59377	0.386000	0.30323	3.405000	0.52630	2.664000	0.90586	0.650000	0.86243	CAG		0.363	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1				45	28	0	0	0	0.013114	0	45	28		
SIDT1	54847	broad.mit.edu	37	3	113327035	113327035	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:113327035G>T	ENST00000264852.4	+	16	2299	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.A525S	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	525					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCATCGGAGAGCCCTGGAAGC	0.542																																						uc003eak.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1573-1575)GCC>TCC		SID1 transmembrane family, member 1 precursor							109.0	98.0	102.0					3																	113327035		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113327035G>T	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1573G>T	3.37:g.113327035G>T	ENSP00000264852:p.Ala525Ser					SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.A525S|SIDT1_uc011big.1_Missense_Mutation_p.A278S|SIDT1_uc011bih.1_RNA|SIDT1_uc011bii.1_5'UTR	p.A525S	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN			16	2224	+			525			Cytoplasmic (Potential).		Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1573G>T	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813549	0.50527	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.15603	2.43;2.41	5.95	3.95	0.45737	.	0.089376	0.48767	D	0.000178	T	0.17450	0.0419	M	0.66939	2.045	0.33981	D	0.647924	B;B	0.20368	0.036;0.044	B;B	0.24974	0.034;0.057	T	0.12344	-1.0551	10	0.23891	T	0.37	-14.142	6.699	0.23215	0.0686:0.0968:0.5525:0.2821	.	525;525	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	S	525	ENSP00000264852:A525S;ENSP00000377416:A525S	ENSP00000264852:A525S	A	+	1	0	SIDT1	114809725	0.931000	0.31567	1.000000	0.80357	0.990000	0.78478	2.491000	0.45303	1.483000	0.48342	0.655000	0.94253	GCC		0.542	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1		NM_017699		26	125	1	0	1.64293e-13	0.01892	2.25223e-13	26	125		
NR1I2	8856	broad.mit.edu	37	3	119535943	119535943	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:119535943C>A	ENST00000337940.4	+	9	1354	c.1306C>A	c.(1306-1308)Ctc>Atc	p.L436I	NR1I2_ENST00000393716.2_Missense_Mutation_p.L397I|NR1I2_ENST00000466380.1_Missense_Mutation_p.L360I	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	397					drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CATGGCTATGCTCACCGAGCT	0.592																																						uc003edj.2		NaN																	0				ovary(2)	2						c.(1189-1191)CTC>ATC		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						85.0	79.0	81.0					3																	119535943		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119535943C>A	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.1306C>A	3.37:g.119535943C>A	ENSP00000336528:p.Leu436Ile					NR1I2_uc003edi.2_Missense_Mutation_p.L360I|NR1I2_uc003edk.2_Missense_Mutation_p.L436I|NR1I2_uc003edl.2_Missense_Mutation_p.L285I	p.L397I	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	9	3028	+			397			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.1189C>A	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747836	0.89663	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.97529	-4.42;-4.42;-4.42	4.68	4.68	0.58851	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.97704	0.9247	L	0.54323	1.7	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.998;0.993	D;D;D	0.91635	0.997;0.999;0.983	D	0.98402	1.0568	10	0.87932	D	0	.	15.1205	0.72438	0.0:1.0:0.0:0.0	.	397;436;383	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	I	397;360;436	ENSP00000377319:L397I;ENSP00000420297:L360I;ENSP00000336528:L436I	ENSP00000336528:L436I	L	+	1	0	NR1I2	121018633	0.983000	0.35010	0.860000	0.33809	0.987000	0.75469	2.616000	0.46376	2.411000	0.81874	0.591000	0.81541	CTC		0.592	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1				44	91	1	0	3.05275e-18	0.013114	4.25534e-18	44	91		
POLQ	10721	broad.mit.edu	37	3	121209029	121209029	+	Missense_Mutation	SNP	C	C	T	rs149007312	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:121209029C>T	ENST00000264233.5	-	16	2877	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	917					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCTTTACTTCGGACTCACTA	0.338								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NaN																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2749-2751)GAA>AAA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	102.0	89.0	93.0		2749	4.7	0.9	3	dbSNP_134	93	0,8600		0,0,4300	yes	missense	POLQ	NM_199420.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	917/2591	121209029	2,13004	2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121209029C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2749G>A	3.37:g.121209029C>T	ENSP00000264233:p.Glu917Lys					POLQ_uc003eed.2_Missense_Mutation_p.E89K	p.E917K	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2878	-			917					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2749G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060232	0.55432	4.54E-4	0.0	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.53423	0.62	5.62	4.74	0.60224	.	0.270938	0.36167	N	0.002756	T	0.37156	0.0993	L	0.34521	1.04	0.37858	D	0.929623	B;B	0.30114	0.269;0.178	B;B	0.26614	0.028;0.071	T	0.42344	-0.9457	10	0.72032	D	0.01	.	12.6183	0.56590	0.0:0.9237:0.0:0.0763	.	917;89	O75417;O75417-2	DPOLQ_HUMAN;.	K	540;917;1053	ENSP00000264233:E917K	ENSP00000264233:E917K	E	-	1	0	POLQ	122691719	1.000000	0.71417	0.946000	0.38457	0.811000	0.45836	2.904000	0.48719	1.378000	0.46305	0.557000	0.71058	GAA		0.338	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1		NM_199420		42	46	0	0	0	0.007835	0	42	46		
ZNF148	7707	broad.mit.edu	37	3	124951899	124951899	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:124951899C>G	ENST00000360647.4	-	9	2156	c.1671G>C	c.(1669-1671)gaG>gaC	p.E557D	ZNF148_ENST00000492394.1_Missense_Mutation_p.E557D|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.E557D|ZNF148_ENST00000485866.1_Missense_Mutation_p.E557D|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	557					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGAAGGATATCTCATGCTGTC	0.398																																						uc003ehx.3		NaN																	0				skin(2)|ovary(1)|pancreas(1)	4						c.(1669-1671)GAG>GAC		zinc finger protein 148							97.0	90.0	92.0					3																	124951899		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951899C>G	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1671G>C	3.37:g.124951899C>G	ENSP00000353863:p.Glu557Asp					SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.E557D|ZNF148_uc010hsa.2_Missense_Mutation_p.E557D|ZNF148_uc003eia.3_Missense_Mutation_p.E557D|ZNF148_uc003ehy.2_Intron	p.E557D	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			9	2157	-			557					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1671G>C	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	8.336	0.827654	0.16749	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	4.67	4.67	0.58626	.	0.050813	0.85682	D	0.000000	T	0.19927	0.0479	N	0.12182	0.205	0.80722	D	1	B	0.17268	0.021	B	0.12156	0.007	T	0.07809	-1.0753	10	0.16420	T	0.52	-12.4883	12.2387	0.54530	0.0:0.9183:0.0:0.0817	.	557	Q9UQR1	ZN148_HUMAN	D	557	ENSP00000353863:E557D;ENSP00000420335:E557D;ENSP00000419322:E557D;ENSP00000420448:E557D	ENSP00000353863:E557D	E	-	3	2	ZNF148	126434589	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.492000	0.35594	2.419000	0.82065	0.655000	0.94253	GAG		0.398	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4		NM_021964		8	44	0	0	0	0.004482	0	8	44		
C3orf22	152065	broad.mit.edu	37	3	126272147	126272147	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:126272147G>A	ENST00000318225.2	-	2	465	c.87C>T	c.(85-87)taC>taT	p.Y29Y		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	29										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		TCCCGCACCTGTACGGAAACT	0.567																																						uc003ejb.2		NaN																	0					0						c.(85-87)TAC>TAT		hypothetical protein LOC152065							227.0	231.0	229.0					3																	126272147		2203	4300	6503	SO:0001819	synonymous_variant	152065							g.chr3:126272147G>A		CCDS3040.1	3q21.3	2011-09-30			ENSG00000180697	ENSG00000180697			28534	protein-coding gene	gene with protein product						12477932	Standard	NM_152533		Approved	MGC34728	uc003ejb.3	Q8N5N4	OTTHUMG00000162731	ENST00000318225.2:c.87C>T	3.37:g.126272147G>A							p.Y29Y	NM_152533	NP_689746	Q8N5N4	CC022_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	416	-			29					B3KUS9	Silent	SNP	ENST00000318225.2	37	c.87C>T	CCDS3040.1																																																																																				0.567	C3orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370231.2		NM_152533		15	638	0	0	0	0.003163	0	15	638		
NEK11	79858	broad.mit.edu	37	3	130828671	130828671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:130828671C>T	ENST00000510769.1	+	4	614	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	NEK11_ENST00000510688.1_Nonsense_Mutation_p.Q121*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.Q121*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.Q121*|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000383366.4_Nonsense_Mutation_p.Q121*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.Q121*|AC121332.1_ENST00000390784.1_RNA|NEK11_ENST00000511262.1_Nonsense_Mutation_p.Q121*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.Q121*|NEK11_ENST00000426022.2_3'UTR					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CGATAAAATTCAGGAATATAA	0.338																																						uc003eny.2		NaN																	0				large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(361-363)CAG>TAG		NIMA-related kinase 11 isoform 1							71.0	78.0	76.0					3																	130828671		2203	4299	6502	SO:0001587	stop_gained	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130828671C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.361C>T	3.37:g.130828671C>T	ENSP00000421549:p.Gln121*					NEK11_uc003enx.2_Nonsense_Mutation_p.Q121*|NEK11_uc003eoa.2_Nonsense_Mutation_p.Q121*|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Nonsense_Mutation_p.Q121*|NEK11_uc003enw.1_Nonsense_Mutation_p.Q121*|NEK11_uc011blm.1_Nonsense_Mutation_p.Q121*|NEK11_uc010hto.1_5'UTR	p.Q121*	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			5	687	+			121			Protein kinase.			Nonsense_Mutation	SNP	ENST00000510769.1	37	c.361C>T		.	.	.	.	.	.	.	.	.	.	C	40	8.069743	0.98638	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000507910;ENST00000508196	.	.	.	5.88	5.88	0.94601	.	0.000000	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0075	0.92857	0.0:1.0:0.0:0.0	.	.	.	.	X	121	.	ENSP00000349389:Q121X	Q	+	1	0	NEK11	132311361	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.857000	0.48349	2.788000	0.95919	0.643000	0.83706	CAG		0.338	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1		NM_024800		31	24	0	0	0	0.013726	0	31	24		
PLCH1	23007	broad.mit.edu	37	3	155203300	155203300	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:155203300T>A	ENST00000340059.7	-	22	2842	c.2843A>T	c.(2842-2844)gAg>gTg	p.E948V	PLCH1_ENST00000494598.1_Missense_Mutation_p.E928V|PLCH1_ENST00000447496.2_Missense_Mutation_p.E948V|PLCH1_ENST00000460012.1_Missense_Mutation_p.E910V|PLCH1_ENST00000334686.6_Missense_Mutation_p.E910V|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000414191.1_Missense_Mutation_p.E910V	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	948					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTTGTGGCCTCGGACACAGA	0.522																																						uc011bok.1		NaN																	0				skin(3)|ovary(1)	4						c.(2842-2844)GAG>GTG		phospholipase C eta 1 isoform a							154.0	144.0	148.0					3																	155203300		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203300T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2843A>T	3.37:g.155203300T>A	ENSP00000345988:p.Glu948Val					PLCH1_uc011boj.1_Missense_Mutation_p.E948V|PLCH1_uc011bol.1_Missense_Mutation_p.E910V	p.E948V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3120	-			948					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2843A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007609	0.75046	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.35605	1.73;1.59;1.3;1.61;1.59;1.59	5.88	5.88	0.94601	.	0.244558	0.40385	N	0.001102	T	0.56031	0.1958	M	0.66939	2.045	0.80722	D	1	P;D;P	0.53462	0.903;0.96;0.534	P;P;B	0.59424	0.857;0.748;0.373	T	0.58042	-0.7706	10	0.62326	D	0.03	.	16.2824	0.82697	0.0:0.0:0.0:1.0	.	910;948;948	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	V	928;910;948;948;910;910	ENSP00000419100:E928V;ENSP00000417502:E910V;ENSP00000402759:E948V;ENSP00000345988:E948V;ENSP00000335469:E910V;ENSP00000412977:E910V	ENSP00000335469:E910V	E	-	2	0	PLCH1	156685994	1.000000	0.71417	0.996000	0.52242	0.447000	0.32167	3.480000	0.53172	2.250000	0.74265	0.533000	0.62120	GAG		0.522	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996		43	132	0	0	0	0.013114	0	43	132		
SI	6476	broad.mit.edu	37	3	164750379	164750379	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:164750379T>A	ENST00000264382.3	-	24	2729	c.2667A>T	c.(2665-2667)gaA>gaT	p.E889D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	889	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCACTCTAACTTCTGTAACAC	0.348										HNSCC(35;0.089)																												uc003fei.2		NaN																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2665-2667)GAA>GAT		sucrase-isomaltase	Acarbose(DB00284)						147.0	138.0	141.0					3																	164750379		2202	4299	6501	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164750379T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2667A>T	3.37:g.164750379T>A	ENSP00000264382:p.Glu889Asp	HNSCC(35;0.089)					p.E889D	NM_001041	NP_001032	P14410	SUIS_HUMAN			24	2729	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	889			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2667A>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.349110	0.24426	.	.	ENSG00000090402	ENST00000264382	T	0.13778	2.56	4.88	-4.02	0.04034	.	4.810680	0.00718	N	0.000871	T	0.09423	0.0232	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30090	-0.9990	10	0.13108	T	0.6	.	7.5043	0.27536	0.0:0.1526:0.4919:0.3555	.	889	P14410	SUIS_HUMAN	D	889	ENSP00000264382:E889D	ENSP00000264382:E889D	E	-	3	2	SI	166233073	0.000000	0.05858	0.001000	0.08648	0.428000	0.31595	-0.022000	0.12480	-0.412000	0.07519	0.533000	0.62120	GAA		0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041		10	8	0	0	0	0.010729	0	10	8		
SERPINI2	5276	broad.mit.edu	37	3	167183097	167183097	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:167183097C>G	ENST00000476257.1	-	6	1061	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	SERPINI2_ENST00000461846.1_Missense_Mutation_p.E255Q|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E255Q|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E255Q			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	255					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TCCATACCTTCTGCAGGAAGT	0.358																																						uc003fer.1		NaN																	0				skin(2)|urinary_tract(1)	3						c.(763-765)GAA>CAA		serpin peptidase inhibitor, clade I (pancpin),							142.0	149.0	147.0					3																	167183097		2203	4300	6503	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167183097C>G	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.763G>C	3.37:g.167183097C>G	ENSP00000420621:p.Glu255Gln					SERPINI2_uc003fes.1_Missense_Mutation_p.E265Q|SERPINI2_uc003fet.1_Missense_Mutation_p.E255Q	p.E255Q	NM_006217	NP_006208	O75830	SPI2_HUMAN			4	821	-			255						Missense_Mutation	SNP	ENST00000476257.1	37	c.763G>C	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	0.892	-0.725080	0.03158	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.74	1.81	0.25067	Serpin domain (3);	0.294618	0.38436	N	0.001692	D	0.82379	0.5024	L	0.58354	1.805	0.34355	D	0.690304	P;P	0.47106	0.89;0.89	P;P	0.48368	0.575;0.575	T	0.80790	-0.1225	10	0.11794	T	0.64	.	10.2596	0.43419	0.0:0.7222:0.0:0.2778	.	255;255	B4DDY9;O75830	.;SPI2_HUMAN	Q	255	ENSP00000420621:E255Q;ENSP00000417692:E255Q;ENSP00000264677:E255Q;ENSP00000419407:E255Q	ENSP00000264677:E255Q	E	-	1	0	SERPINI2	168665791	0.997000	0.39634	0.423000	0.26634	0.167000	0.22549	1.375000	0.34295	0.319000	0.23209	-0.302000	0.09304	GAA		0.358	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1		NM_006217		11	102	0	0	0	0.010729	0	11	102		
DCUN1D1	54165	broad.mit.edu	37	3	182681826	182681826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:182681826C>A	ENST00000292782.4	-	3	385	c.232G>T	c.(232-234)Gag>Tag	p.E78*	DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.E63*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	78	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTTTATTCTCATCTTGAGGG	0.353																																						uc003fld.1		NaN																	0				ovary(1)	1						c.(232-234)GAG>TAG		RP42 homolog							97.0	85.0	89.0					3																	182681826		2203	4300	6503	SO:0001587	stop_gained	54165					ubiquitin ligase complex	protein binding	g.chr3:182681826C>A	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.232G>T	3.37:g.182681826C>A	ENSP00000292782:p.Glu78*					DCUN1D1_uc011bqn.1_5'UTR	p.E78*	NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		3	281	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		78			DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Nonsense_Mutation	SNP	ENST00000292782.4	37	c.232G>T	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158157	0.94686	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954;ENST00000497606;ENST00000460412;ENST00000487822;ENST00000466812	.	.	.	5.88	5.88	0.94601	.	0.141162	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-19.7573	20.2314	0.98350	0.0:1.0:0.0:0.0	.	.	.	.	X	78;78;63;63;63;63;63	.	ENSP00000292782:E78X	E	-	1	0	DCUN1D1	184164520	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.584000	0.67490	2.789000	0.95967	0.591000	0.81541	GAG		0.353	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1		NM_020640		7	48	1	0	2.7689e-08	0.001984	3.69782e-08	7	48		
C3orf70	285382	broad.mit.edu	37	3	184801154	184801154	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:184801154C>T	ENST00000335012.2	-	2	584	c.394G>A	c.(394-396)Gac>Aac	p.D132N		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	132										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TGATAGTTGTCAATAAAAAGG	0.468																																						uc003fpd.2		NaN																	0					0						c.(394-396)GAC>AAC		hypothetical protein LOC285382							84.0	83.0	83.0					3																	184801154		2203	4300	6503	SO:0001583	missense	285382							g.chr3:184801154C>T		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.394G>A	3.37:g.184801154C>T	ENSP00000334974:p.Asp132Asn						p.D132N	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			2	585	-			132					B2RNY2|B9EH83	Missense_Mutation	SNP	ENST00000335012.2	37	c.394G>A	CCDS33900.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085872	0.94100	.	.	ENSG00000187068	ENST00000335012	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71481	-0.4580	9	0.87932	D	0	.	19.0666	0.93114	0.0:1.0:0.0:0.0	.	132	A6NLC5	CC070_HUMAN	N	132	.	ENSP00000334974:D132N	D	-	1	0	C3orf70	186283848	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.487000	0.81328	2.585000	0.87301	0.655000	0.94253	GAC		0.468	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1		NM_001025266		20	113	0	0	0	0.010504	0	20	113		
ETV5	2119	broad.mit.edu	37	3	185798944	185798944	+	Missense_Mutation	SNP	G	G	C	rs540138059		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:185798944G>C	ENST00000306376.5	-	6	499	c.253C>G	c.(253-255)Cca>Gca	p.P85A	ETV5_ENST00000434744.1_Missense_Mutation_p.P85A|ETV5_ENST00000537818.1_Missense_Mutation_p.P127A|ETV5-AS1_ENST00000453370.1_RNA	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	85					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATCTTGGTTGGAGGTGGGGCA	0.512			T	"""TMPRSS2, SCL45A3"""	Prostate																																	uc003fpz.2		NaN		Dom	yes		3	3q28	2119	T	ets variant gene 5			E	TMPRSS2|SCL45A3		Prostate 		0				ovary(2)|skin(2)|breast(1)	5						c.(253-255)CCA>GCA		ets variant gene 5 (ets-related molecule)							89.0	88.0	89.0					3																	185798944		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185798944G>C	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.253C>G	3.37:g.185798944G>C	ENSP00000306894:p.Pro85Ala					ETV5_uc003fpy.2_Missense_Mutation_p.P127A	p.P85A	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		6	500	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		85					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.253C>G	CCDS33906.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.485438|4.485438	0.84854|0.84854	.|.	.|.	ENSG00000244405|ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301|ENST00000422039	T;T;T;T;T;T|.	0.49139|.	2.79;2.79;2.76;0.79;0.81;0.82|.	5.22|5.22	5.22|5.22	0.72569|0.72569	PEA3-type ETS-domain transcription factor, N-terminal (1);|.	0.195639|.	0.44688|.	D|.	0.000427|.	T|T	0.64649|0.64649	0.2617|0.2617	L|L	0.47716|0.47716	1.5|1.5	0.47905|0.47905	D|D	0.999542|0.999542	P;P|.	0.48089|.	0.905;0.905|.	P;P|.	0.47044|.	0.457;0.535|.	T|T	0.65792|0.65792	-0.6082|-0.6082	10|6	0.29301|0.54805	T|T	0.29|0.06	.|.	15.6934|15.6934	0.77473|0.77473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	85;127|.	P41161;B7Z7D7|.	ETV5_HUMAN;.|.	A|C	85;85;127;85;85;85|122	ENSP00000306894:P85A;ENSP00000413755:P85A;ENSP00000441737:P127A;ENSP00000389707:P85A;ENSP00000412171:P85A;ENSP00000405157:P85A|.	ENSP00000306894:P85A|ENSP00000388737:S122C	P|S	-|-	1|2	0|0	ETV5|ETV5	187281638|187281638	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.233000|8.233000	0.89799|0.89799	2.441000|2.441000	0.82636|0.82636	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.512	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1		NM_004454		85	104	0	0	0	0.01441	0	85	104		
LPP	4026	broad.mit.edu	37	3	188327375	188327375	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr3:188327375G>A	ENST00000312675.4	+	6	1102	c.856G>A	c.(856-858)Ggg>Agg	p.G286R	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_Missense_Mutation_p.G286R|LPP_ENST00000543006.1_Missense_Mutation_p.G286R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	286	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCCGGAGCCTGGGTATGGGTA	0.567			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1		NaN		Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	0				soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(856-858)GGG>AGG		LIM domain containing preferred translocation							80.0	72.0	74.0					3																	188327375		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327375G>A	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.856G>A	3.37:g.188327375G>A	ENSP00000318089:p.Gly286Arg					LPP_uc011bsg.1_Intron|LPP_uc011bsi.1_Missense_Mutation_p.G286R|LPP_uc003frt.2_Missense_Mutation_p.G286R|LPP_uc011bsj.1_Missense_Mutation_p.G123R	p.G286R	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	1102	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	286			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.856G>A	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998751	0.74818	.	.	ENSG00000145012	ENST00000448637;ENST00000312675;ENST00000543006;ENST00000415906	T;T;T;T	0.54479	1.94;0.57;0.57;1.54	5.93	3.07	0.35406	.	1.092530	0.06712	N	0.773385	T	0.55337	0.1914	M	0.61703	1.905	0.34824	D	0.738985	P;P	0.43633	0.813;0.684	P;B	0.46479	0.518;0.157	T	0.57785	-0.7751	10	0.29301	T	0.29	.	7.1018	0.25343	0.1964:0.0:0.6753:0.1283	.	286;286	C9JUT4;Q93052	.;LPP_HUMAN	R	286;286;286;123	ENSP00000393602:G286R;ENSP00000318089:G286R;ENSP00000438891:G286R;ENSP00000393008:G123R	ENSP00000318089:G286R	G	+	1	0	LPP	189810069	0.935000	0.31712	0.976000	0.42696	0.894000	0.52154	2.086000	0.41643	1.526000	0.49068	0.655000	0.94253	GGG		0.567	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1		NM_005578		11	96	0	0	0	0.010729	0	11	96		
PIGG	54872	broad.mit.edu	37	4	494383	494383	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:494383G>A	ENST00000453061.2	+	2	459	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	PIGG_ENST00000383028.4_Missense_Mutation_p.R118Q|PIGG_ENST00000503111.1_Missense_Mutation_p.R29Q|ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.R118Q|PIGG_ENST00000296306.7_Missense_Mutation_p.R29Q|PIGG_ENST00000504346.1_Missense_Mutation_p.R29Q|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000509768.1_Missense_Mutation_p.R29Q|PIGG_ENST00000536264.1_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	118					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ACTATGCCTCGAATCAAGGTA	0.408																																						uc003gak.3		NaN																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(352-354)CGA>CAA		phosphatidylinositol glycan anchor biosynthesis,							81.0	72.0	75.0					4																	494383		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:494383G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.353G>A	4.37:g.494383G>A	ENSP00000415203:p.Arg118Gln					PIGG_uc003gaj.3_Missense_Mutation_p.R118Q|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.R118Q|PIGG_uc003gal.3_Missense_Mutation_p.R29Q|ZNF721_uc003gag.2_5'Flank|ZNF721_uc010ibe.2_5'Flank|ZNF721_uc003gah.1_5'Flank|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_5'UTR|PIGG_uc003gam.2_Missense_Mutation_p.R29Q|PIGG_uc003gan.2_Missense_Mutation_p.R29Q	p.R118Q	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			2	489	+			118			Lumenal (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.353G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086000	0.94100	.	.	ENSG00000174227	ENST00000296306;ENST00000310340;ENST00000453061;ENST00000504346;ENST00000503111;ENST00000383028;ENST00000509768	T;T;T;T;T;T;T	0.74842	1.47;-0.61;-0.61;1.47;1.47;-0.88;1.47	4.12	4.12	0.48240	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	D	0.000001	D	0.89259	0.6664	H	0.94264	3.515	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;1.0;0.992;0.966	D;P;D;P;P	0.83275	0.996;0.723;0.954;0.723;0.538	D	0.92102	0.5689	10	0.72032	D	0.01	-5.8674	13.8652	0.63583	0.0:0.0:1.0:0.0	.	118;29;29;118;118	Q5H8A4-3;D6RFE8;Q5H8A4-5;Q5H8A4;Q5H8A4-2	.;.;.;PIGG_HUMAN;.	Q	29;118;118;29;29;118;29	ENSP00000296306:R29Q;ENSP00000311750:R118Q;ENSP00000415203:R118Q;ENSP00000424800:R29Q;ENSP00000426002:R29Q;ENSP00000372494:R118Q;ENSP00000421550:R29Q	ENSP00000296306:R29Q	R	+	2	0	PIGG	484383	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.238000	0.95380	1.842000	0.53543	0.561000	0.74099	CGA		0.408	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1		NM_017733		23	18	0	0	0	0.01892	0	23	18		
PDE6B	5158	broad.mit.edu	37	4	628477	628477	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:628477C>T	ENST00000496514.1	+	2	501	c.480C>T	c.(478-480)ttC>ttT	p.F160F	PDE6B_ENST00000255622.6_Silent_p.F160F			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	160	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GCCCTCACTTCAGCTCATTTG	0.567																																					GBM(71;463 1194 9848 25922 46834)	uc003gap.2		NaN																	0					0						c.(478-480)TTC>TTT		phosphodiesterase 6B isoform 1							134.0	118.0	123.0					4																	628477		2203	4300	6503	SO:0001819	synonymous_variant	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:628477C>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.480C>T	4.37:g.628477C>T						PDE6B_uc003gao.3_Silent_p.F160F	p.F160F	NM_000283	NP_000274	P35913	PDE6B_HUMAN			2	533	+			160			GAF 1.		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	ENST00000496514.1	37	c.480C>T	CCDS33932.1																																																																																				0.567	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1		NM_000283		35	76	0	0	0	0.005524	0	35	76		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNASeq;WGS			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		22	15	0	0	0	0.013726	0	22	15		
OTOP1	133060	broad.mit.edu	37	4	4199019	4199019	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:4199019C>G	ENST00000296358.4	-	5	1566	c.1542G>C	c.(1540-1542)gaG>gaC	p.E514D		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	514					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTCCTGCTTCTCCTCCTCCT	0.577																																						uc003ghp.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1540-1542)GAG>GAC		otopetrin 1							59.0	63.0	62.0					4																	4199019		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199019C>G	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1542G>C	4.37:g.4199019C>G	ENSP00000296358:p.Glu514Asp						p.E514D	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1572	-			514					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1542G>C	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.273035	0.01421	.	.	ENSG00000163982	ENST00000296358	T	0.08282	3.11	0.131	0.131	0.14755	.	2.247160	0.01319	N	0.010885	T	0.06188	0.0160	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34700	-0.9818	9	0.15952	T	0.53	.	.	.	.	.	514	Q7RTM1	OTOP1_HUMAN	D	514	ENSP00000296358:E514D	ENSP00000296358:E514D	E	-	3	2	OTOP1	4249920	0.997000	0.39634	0.018000	0.16275	0.127000	0.20565	0.285000	0.18883	0.171000	0.19730	0.174000	0.16983	GAG		0.577	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2		NM_177998		20	70	0	0	0	0.014323	0	20	70		
ZBTB49	166793	broad.mit.edu	37	4	4314802	4314802	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:4314802C>G	ENST00000337872.4	+	5	1458	c.1337C>G	c.(1336-1338)tCt>tGt	p.S446C	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CGACGGCATTCTGGTGAAAAA	0.413																																						uc003ghu.2		NaN																	0				ovary(1)|skin(1)	2						c.(1336-1338)TCT>TGT		zinc finger protein 509							171.0	148.0	156.0					4																	4314802		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4314802C>G	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1337C>G	4.37:g.4314802C>G	ENSP00000338807:p.Ser446Cys					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_Intron|ZBTB49_uc010icz.2_Intron	p.S446C	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			5	1512	+			446					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1337C>G	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483220	0.84747	.	.	ENSG00000168826	ENST00000337872	T	0.19938	2.11	4.94	4.94	0.65067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000057	T	0.48077	0.1480	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52094	-0.8621	10	0.87932	D	0	.	18.1529	0.89679	0.0:1.0:0.0:0.0	.	446	Q6ZSB9	ZBT49_HUMAN	C	446	ENSP00000338807:S446C	ENSP00000338807:S446C	S	+	2	0	ZBTB49	4365703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.714000	0.74692	2.296000	0.77279	0.650000	0.86243	TCT		0.413	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3		NM_145291		19	47	0	0	0	0.01892	0	19	47		
EVC2	132884	broad.mit.edu	37	4	5586480	5586480	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:5586480G>C	ENST00000344408.5	-	17	2980	c.2927C>G	c.(2926-2928)tCc>tGc	p.S976C	EVC2_ENST00000310917.2_Missense_Mutation_p.S896C|EVC2_ENST00000344938.1_Missense_Mutation_p.S976C	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	976					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGTCACCCGGGACGCCTTCTG	0.607																																						uc003gij.2		NaN																	0				large_intestine(3)|ovary(2)	5						c.(2926-2928)TCC>TGC		limbin							79.0	80.0	80.0					4																	5586480		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5586480G>C	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2927C>G	4.37:g.5586480G>C	ENSP00000342144:p.Ser976Cys					EVC2_uc011bwb.1_Missense_Mutation_p.S416C|EVC2_uc003gik.2_Missense_Mutation_p.S896C	p.S976C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			17	2981	-			976					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.2927C>G	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	G	7.570	0.666554	0.14710	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74632	-0.86;-0.85;-0.86	4.78	3.87	0.44632	.	1.025700	0.07736	N	0.946012	T	0.56140	0.1965	N	0.08118	0	0.09310	N	1	B	0.30709	0.291	B	0.27262	0.078	T	0.49123	-0.8972	10	0.59425	D	0.04	-12.436	9.8188	0.40869	0.0:0.0:0.6736:0.3264	.	976	Q86UK5	LBN_HUMAN	C	976;896;976	ENSP00000339954:S976C;ENSP00000311683:S896C;ENSP00000342144:S976C	ENSP00000311683:S896C	S	-	2	0	EVC2	5637381	0.837000	0.29446	0.029000	0.17559	0.064000	0.16182	2.015000	0.40961	2.373000	0.80994	0.543000	0.68304	TCC		0.607	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2		NM_147127		16	35	0	0	0	0.006122	0	16	35		
TXK	7294	broad.mit.edu	37	4	48106974	48106974	+	Splice_Site	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:48106974T>C	ENST00000264316.4	-	6	532		c.e6-2		RNU6-838P_ENST00000363399.1_RNA|TXK_ENST00000510457.1_Splice_Site	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase						activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TGGTACCACCTGTAAAAGCaa	0.284																																						uc003gxx.3		NaN																	0					0						c.e6-1		TXK tyrosine kinase							90.0	85.0	87.0					4																	48106974		2202	4289	6491	SO:0001630	splice_region_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48106974T>C	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.447-2A>G	4.37:g.48106974T>C						TXK_uc003gxy.1_Splice_Site_p.E149_splice	p.E149_splice	NM_003328	NP_003319	P42681	TXK_HUMAN			6	533	-								Q14220	Splice_Site	SNP	ENST00000264316.4	37	c.447_splice	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609130	0.66558	.	.	ENSG00000074966	ENST00000264316	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1519	0.48464	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXK	47801731	1.000000	0.71417	0.978000	0.43139	0.985000	0.73830	4.430000	0.59907	2.129000	0.65627	0.482000	0.46254	.		0.284	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7		NM_003328	Intron	10	19	0	0	0	0.006214	0	10	19		
LPHN3	23284	broad.mit.edu	37	4	62849142	62849142	+	Missense_Mutation	SNP	C	C	A	rs374420940		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:62849142C>A	ENST00000514591.1	+	18	3182	c.2853C>A	c.(2851-2853)ttC>ttA	p.F951L	LPHN3_ENST00000506700.1_Missense_Mutation_p.F951L|LPHN3_ENST00000545650.1_Missense_Mutation_p.F951L|LPHN3_ENST00000514157.1_Missense_Mutation_p.F951L|LPHN3_ENST00000507164.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000508946.1_Missense_Mutation_p.F951L|LPHN3_ENST00000507625.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000506720.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000509896.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000514996.1_Missense_Mutation_p.F951L|LPHN3_ENST00000504896.1_Missense_Mutation_p.F951L|LPHN3_ENST00000506746.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000512091.2_Missense_Mutation_p.F951L|LPHN3_ENST00000511324.1_Missense_Mutation_p.F1019L|LPHN3_ENST00000508693.1_Missense_Mutation_p.F1019L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	938					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.F951L(2)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTTCTTCTTCTTGGCTGCCT	0.433																																						uc010ihh.2		NaN																	2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(2)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(2851-2853)TTC>TTA		latrophilin 3 precursor							141.0	131.0	134.0					4																	62849142		1953	4162	6115	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62849142C>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2853C>A	4.37:g.62849142C>A	ENSP00000422533:p.Phe951Leu					LPHN3_uc003hcq.3_Missense_Mutation_p.F951L|LPHN3_uc003hct.2_Missense_Mutation_p.F344L	p.F951L	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			16	3026	+			938			Helical; Name=3; (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2853C>A	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.070001|4.070001	0.76301|0.76301	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.38|5.38	4.53|4.53	0.55603|0.55603	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52549|0.52549	0.1741|0.1741	N|N	0.26042|0.26042	0.785|0.785	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.63046|.	0.992;0.992;0.99|.	D;D;D|.	0.76071|.	0.987;0.987;0.979|.	T|T	0.48490|0.48490	-0.9031|-0.9031	10|5	0.46703|.	T|.	0.11|.	.|.	14.6904|14.6904	0.69083|0.69083	0.0:0.9291:0.0:0.0709|0.0:0.9291:0.0:0.0709	.|.	951;938;951|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	L|I	951;951;1019;1019;951;951;938;951;1019;1019;1019;951;951;951;1019;1019;951|409	ENSP00000423388:F951L;ENSP00000422533:F951L;ENSP00000423787:F1019L;ENSP00000425033:F1019L;ENSP00000424120:F951L;ENSP00000439831:F951L;ENSP00000421476:F1019L;ENSP00000424030:F1019L;ENSP00000421372:F1019L;ENSP00000425201:F951L;ENSP00000423434:F951L;ENSP00000421627:F951L;ENSP00000420931:F1019L;ENSP00000425884:F1019L;ENSP00000424258:F951L|.	ENSP00000280009:F951L|.	F|L	+|+	3|1	2|0	LPHN3|LPHN3	62531737|62531737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	4.007000|4.007000	0.57093|0.57093	1.391000|1.391000	0.46566|0.46566	0.585000|0.585000	0.79938|0.79938	TTC|CTT		0.433	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1				4	16	1	0	0.00024832	0.009096	0.000317298	4	16		
COPS4	51138	broad.mit.edu	37	4	83984325	83984325	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:83984325G>A	ENST00000264389.2	+	7	947	c.812G>A	c.(811-813)aGg>aAg	p.R271K	COPS4_ENST00000503682.1_Missense_Mutation_p.R271K|COPS4_ENST00000511653.1_Missense_Mutation_p.R271K|COPS4_ENST00000509093.1_Missense_Mutation_p.R271K	NM_016129.2	NP_057213.2	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	271	PCI.				cullin deneddylation (GO:0010388)|protein deneddylation (GO:0000338)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TATCTAGATAGGATCATCAGA	0.428																																						uc003hoa.2		NaN																	0				kidney(1)	1						c.(811-813)AGG>AAG		COP9 signalosome subunit 4							88.0	86.0	87.0					4																	83984325		2203	4300	6503	SO:0001583	missense	51138				cullin deneddylation	cytoplasm|signalosome	protein binding	g.chr4:83984325G>A	AF100757	CCDS3600.1, CCDS58909.1	4q21.22	2013-03-14	2013-03-14		ENSG00000138663	ENSG00000138663			16702	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 4"", ""COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)"""			9707402	Standard	NM_016129		Approved	CSN4	uc003hoa.3	Q9BT78	OTTHUMG00000130298	ENST00000264389.2:c.812G>A	4.37:g.83984325G>A	ENSP00000264389:p.Arg271Lys					COPS4_uc003hob.2_Missense_Mutation_p.R271K|COPS4_uc010ijw.2_Missense_Mutation_p.R271K|COPS4_uc010ijx.2_Missense_Mutation_p.R271K	p.R271K	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN			7	951	+		Hepatocellular(203;0.114)	271			PCI.		B3KN88|B3KST5|Q561W7|Q9NW31|Q9Y677	Missense_Mutation	SNP	ENST00000264389.2	37	c.812G>A	CCDS3600.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449477	0.96205	.	.	ENSG00000138663	ENST00000509093;ENST00000264389;ENST00000509317;ENST00000503682;ENST00000511653	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	5.67	5.67	0.87782	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	0.999;0.972;0.999;1.0	D;P;D;D	0.85130	0.942;0.899;0.994;0.997	T	0.64257	-0.6450	10	0.48119	T	0.1	-11.8084	19.7712	0.96366	0.0:0.0:1.0:0.0	.	271;271;271;271	B3KST5;D6RFN0;D6RAX7;Q9BT78	.;.;.;CSN4_HUMAN	K	271;271;159;271;271	ENSP00000425976:R271K;ENSP00000264389:R271K;ENSP00000425486:R159K;ENSP00000424791:R271K;ENSP00000424655:R271K	ENSP00000264389:R271K	R	+	2	0	COPS4	84203349	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	9.523000	0.98034	2.677000	0.91161	0.585000	0.79938	AGG		0.428	COPS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252643.1				20	45	0	0	0	0.007413	0	20	45		
WDFY3	23001	broad.mit.edu	37	4	85634326	85634326	+	Silent	SNP	C	C	A	rs150169644	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:85634326C>A	ENST00000295888.4	-	51	8435	c.8028G>T	c.(8026-8028)acG>acT	p.T2676T	WDFY3_ENST00000322366.6_Silent_p.T2659T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2676	Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTCCACACTCGTGTTTGGTC	0.383																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(8026-8028)ACG>ACT		WD repeat and FYVE domain containing 3 isoform							219.0	204.0	209.0					4																	85634326		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85634326C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8028G>T	4.37:g.85634326C>A						WDFY3_uc003hpe.1_Silent_p.T287T	p.T2676T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	51	8436	-		Hepatocellular(203;0.114)	2676					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.8028G>T	CCDS3609.1																																																																																				0.383	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		59	158	1	0	1.85257e-25	0.01441	2.60873e-25	59	158		
HSD17B13	345275	broad.mit.edu	37	4	88238286	88238286	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:88238286C>A	ENST00000328546.4	-	3	472	c.408G>T	c.(406-408)gaG>gaT	p.E136D	RP11-529H2.2_ENST00000508163.1_RNA|HSD17B13_ENST00000302219.6_Missense_Mutation_p.E100D	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	136						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TCTTGGTAATCTCTTCATCCT	0.403																																						uc003hqo.2		NaN																	0					0						c.(406-408)GAG>GAT		hydroxysteroid (17-beta) dehydrogenase 13							158.0	147.0	151.0					4																	88238286		2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88238286C>A		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.408G>T	4.37:g.88238286C>A	ENSP00000333300:p.Glu136Asp					HSD17B13_uc010ikk.2_Missense_Mutation_p.E100D	p.E136D	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	3	471	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	136					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.408G>T	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	C	5.989	0.366401	0.11352	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.87179	-2.22;-2.22	4.93	2.29	0.28610	NAD(P)-binding domain (1);	0.171432	0.40064	N	0.001194	T	0.68320	0.2988	N	0.04355	-0.22	0.25809	N	0.984417	B;B	0.17852	0.024;0.006	B;B	0.21360	0.03;0.034	T	0.54091	-0.8345	10	0.13853	T	0.58	.	8.2906	0.31954	0.0:0.6129:0.0:0.3871	.	100;136	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	D	100;136	ENSP00000305438:E100D;ENSP00000333300:E136D	ENSP00000305438:E100D	E	-	3	2	HSD17B13	88457310	0.962000	0.33011	0.533000	0.28001	0.528000	0.34623	0.060000	0.14342	0.367000	0.24454	0.650000	0.86243	GAG		0.403	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1		NM_178135		15	54	1	0	0.00400662	0.004007	0.00503412	15	54		
PDHA2	5161	broad.mit.edu	37	4	96761707	96761707	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:96761707C>T	ENST00000295266.4	+	1	469	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	136					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TCTCGCAGAGCTGACGGGAAG	0.517																																						uc003htr.3		NaN																	0				central_nervous_system(1)	1						c.(406-408)CTG>TTG		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						99.0	90.0	93.0					4																	96761707		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761707C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.406C>T	4.37:g.96761707C>T							p.L136L	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	469	+		Hepatocellular(203;0.114)	136					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.406C>T	CCDS3644.1																																																																																				0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1				20	56	0	0	0	0.010504	0	20	56		
MANBA	4126	broad.mit.edu	37	4	103571706	103571706	+	Missense_Mutation	SNP	G	G	C	rs141009346		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:103571706G>C	ENST00000226578.4	-	13	1956	c.1857C>G	c.(1855-1857)atC>atG	p.I619M	MANBA_ENST00000505239.1_Missense_Mutation_p.I562M	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	619					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GAGTAAGGTAGATGGTATCTT	0.363																																						uc003hwg.2		NaN																	0				ovary(1)	1						c.(1855-1857)ATC>ATG		mannosidase, beta A, lysosomal precursor							219.0	216.0	217.0					4																	103571706		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103571706G>C		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1857C>G	4.37:g.103571706G>C	ENSP00000226578:p.Ile619Met					MANBA_uc011ces.1_Missense_Mutation_p.I562M	p.I619M	NM_005908	NP_005899	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	13	1957	-		Hepatocellular(203;0.217)	619					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.1857C>G	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910665	0.52439	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.69175	-0.38;-0.38	5.2	2.37	0.29283	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.344578	0.31472	N	0.007596	T	0.74245	0.3691	M	0.86864	2.845	0.42406	D	0.99258	D;D	0.58268	0.975;0.982	P;P	0.56127	0.55;0.792	T	0.71471	-0.4583	10	0.72032	D	0.01	-11.8537	2.1118	0.03704	0.2323:0.1472:0.4709:0.1495	.	562;619	E9PFW2;O00462	.;MANBA_HUMAN	M	619;562	ENSP00000226578:I619M;ENSP00000427322:I562M	ENSP00000226578:I619M	I	-	3	3	MANBA	103790754	0.997000	0.39634	0.998000	0.56505	0.980000	0.70556	0.403000	0.20982	0.226000	0.20979	0.650000	0.86243	ATC		0.363	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2				7	32	0	0	0	0.00308	0	7	32		
KIAA1109	84162	broad.mit.edu	37	4	123117944	123117944	+	Silent	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:123117944A>C	ENST00000264501.4	+	12	1580	c.1207A>C	c.(1207-1209)Agg>Cgg	p.R403R	KIAA1109_ENST00000388738.3_Silent_p.R403R|KIAA1109_ENST00000455637.1_Silent_p.R403R|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	403					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACCAAAAATAGGGtaattat	0.299																																						uc003ieh.2		NaN																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(1207-1209)AGG>CGG		fragile site-associated protein							50.0	47.0	48.0					4																	123117944		1782	4052	5834	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123117944A>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1207A>C	4.37:g.123117944A>C						KIAA1109_uc003iei.1_Silent_p.R157R|KIAA1109_uc010ins.1_5'UTR	p.R403R	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			10	1252	+			403					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.1207A>C	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.747791	0.49257	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9075	0.79442	1.0:0.0:0.0:0.0	.	.	.	.	S	235	.	.	X	+	2	0	KIAA1109	123337394	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.981000	0.70524	2.158000	0.67659	0.533000	0.62120	TAG		0.299	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		NM_020797		12	27	0	0	0	0.010729	0	12	27		
PDGFC	56034	broad.mit.edu	37	4	157684305	157684305	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:157684305G>C	ENST00000502773.1	-	6	1465	c.975C>G	c.(973-975)acC>acG	p.T325T	PDGFC_ENST00000422544.2_Silent_p.T262T|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Silent_p.T170T|PDGFC_ENST00000541126.1_Silent_p.T162T	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	325					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGGCCACGTCGGTGAGTGATT	0.527																																						uc003iph.1		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(973-975)ACC>ACG		platelet-derived growth factor C precursor							151.0	116.0	128.0					4																	157684305		2203	4300	6503	SO:0001819	synonymous_variant	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157684305G>C	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.975C>G	4.37:g.157684305G>C						PDGFC_uc003ipi.1_Silent_p.T162T|PDGFC_uc011cis.1_Silent_p.T162T|PDGFC_uc011cir.1_Silent_p.T169T	p.T325T	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	6	1466	-	all_hematologic(180;0.24)	Renal(120;0.0458)	325					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Silent	SNP	ENST00000502773.1	37	c.975C>G	CCDS3795.1																																																																																				0.527	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1				10	27	0	0	0	0.010729	0	10	27		
TLL1	7092	broad.mit.edu	37	4	167020652	167020652	+	Silent	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:167020652G>T	ENST00000061240.2	+	20	3527	c.2880G>T	c.(2878-2880)gtG>gtT	p.V960V	TLL1_ENST00000507499.1_Silent_p.V983V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	960	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CAACAGCTGTGGGGCTTGGTC	0.433																																						uc003irh.1		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2878-2880)GTG>GTT		tolloid-like 1 precursor							186.0	191.0	189.0					4																	167020652		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167020652G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2880G>T	4.37:g.167020652G>T						TLL1_uc011cjn.1_Silent_p.V983V|TLL1_uc011cjo.1_Silent_p.V784V	p.V960V	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	20	3527	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	960			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.2880G>T	CCDS3811.1																																																																																				0.433	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1				13	37	1	0	4.36969e-10	0.016723	5.90229e-10	13	37		
CBR4	84869	broad.mit.edu	37	4	169931103	169931103	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:169931103G>A	ENST00000306193.3	-	1	306	c.138C>T	c.(136-138)ctC>ctT	p.L46L	CBR4_ENST00000504480.1_Silent_p.L46L|RP11-483A20.3_ENST00000506933.1_RNA	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	46					daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|fatty acid biosynthetic process (GO:0006633)|protein homotetramerization (GO:0051289)	mitochondrial matrix (GO:0005759)	NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|NADPH binding (GO:0070402)|NADPH dehydrogenase (quinone) activity (GO:0008753)|quinone binding (GO:0048038)			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		ACCTACCGCCGAGGTCACCGG	0.587											OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003iry.2		NaN																	0					0						c.(136-138)CTC>CTT		carbonic reductase 4							14.0	18.0	16.0					4																	169931103		2202	4299	6501	SO:0001819	synonymous_variant	84869				fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding	g.chr4:169931103G>A	BC021973	CCDS3812.1	4q32.3	2013-10-11			ENSG00000145439	ENSG00000145439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	25891	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 45C, member 1"""					19027726	Standard	NM_032783		Approved	FLJ14431, SDR45C1	uc003iry.3	Q8N4T8	OTTHUMG00000161025	ENST00000306193.3:c.138C>T	4.37:g.169931103G>A			OREG0016397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1881	CBR4_uc011cjy.1_RNA|CBR4_uc003irz.1_Silent_p.L46L	p.L46L	NM_032783	NP_116172	Q8N4T8	CBR4_HUMAN		GBM - Glioblastoma multiforme(119;0.0321)	1	320	-		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)	46					Q8WTW8|Q96K93	Silent	SNP	ENST00000306193.3	37	c.138C>T	CCDS3812.1																																																																																				0.587	CBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363441.2		NM_032783		10	26	0	0	0	0.010729	0	10	26		
VEGFC	7424	broad.mit.edu	37	4	177608517	177608517	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr4:177608517G>C	ENST00000280193.2	-	6	1384	c.969C>G	c.(967-969)ctC>ctG	p.L323L	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	323	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCTGGGGAAGAGTTTGTTTT	0.502																																						uc003ius.1		NaN																	0				lung(5)	5						c.(967-969)CTC>CTG		vascular endothelial growth factor C							198.0	178.0	184.0					4																	177608517		1891	4129	6020	SO:0001819	synonymous_variant	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177608517G>C	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.969C>G	4.37:g.177608517G>C							p.L323L	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	6	1399	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	323			4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.		B2R9Q8	Silent	SNP	ENST00000280193.2	37	c.969C>G	CCDS43285.1																																																																																				0.502	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1		NM_005429		28	75	0	0	0	0.010818	0	28	75		
SLC12A7	10723	broad.mit.edu	37	5	1087072	1087072	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:1087072C>T	ENST00000264930.5	-	6	664	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	207					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGTCGTGCCCAGGTAGAAGC	0.587																																						uc003jbu.2		NaN																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(619-621)CTG>CTA		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						60.0	59.0	59.0					5																	1087072		2203	4300	6503	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1087072C>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.621G>A	5.37:g.1087072C>T							p.L207L	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		6	687	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		207			Cytoplasmic (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.621G>A	CCDS34129.1																																																																																				0.587	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2		NM_006598		19	82	0	0	0	0.007413	0	19	82		
IRX2	153572	broad.mit.edu	37	5	2748596	2748596	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:2748596C>A	ENST00000382611.6	-	3	1474	c.1226G>T	c.(1225-1227)cGg>cTg	p.R409L	IRX2_ENST00000502957.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.R409L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	409					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		AGAGTTGTACCGCAGGAGACC	0.716																																						uc003jda.2		NaN																	0				skin(1)	1						c.(1225-1227)CGG>CTG		iroquois homeobox 2							26.0	27.0	27.0					5																	2748596		2185	4279	6464	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2748596C>A	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1226G>T	5.37:g.2748596C>A	ENSP00000372056:p.Arg409Leu					IRX2_uc003jdb.2_Missense_Mutation_p.R409L	p.R409L	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	3	1468	-			409					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.1226G>T	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880490	0.72294	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	T;T	0.68624	-0.34;-0.34	4.43	4.43	0.53597	.	0.807781	0.11715	N	0.536538	T	0.77239	0.4101	L	0.42245	1.32	0.54753	D	0.999986	D	0.89917	1.0	D	0.66847	0.947	T	0.77536	-0.2551	10	0.72032	D	0.01	-19.9707	17.4343	0.87547	0.0:1.0:0.0:0.0	.	409	Q9BZI1	IRX2_HUMAN	L	409	ENSP00000372056:R409L;ENSP00000307006:R409L	ENSP00000307006:R409L	R	-	2	0	IRX2	2801596	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	5.585000	0.67497	2.184000	0.69523	0.561000	0.74099	CGG		0.716	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2				31	67	1	0	8.16721e-17	0.010818	1.13274e-16	31	67		
ADAMTS16	170690	broad.mit.edu	37	5	5190099	5190099	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:5190099A>T	ENST00000274181.7	+	7	1201	c.1063A>T	c.(1063-1065)Agt>Tgt	p.S355C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S355C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	355	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACTGGTGATAAGTCACCACGC	0.473																																						uc003jdl.2		NaN																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(1063-1065)AGT>TGT		ADAM metallopeptidase with thrombospondin type 1							119.0	115.0	116.0					5																	5190099		2062	4208	6270	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5190099A>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1063A>T	5.37:g.5190099A>T	ENSP00000274181:p.Ser355Cys					ADAMTS16_uc003jdk.1_Missense_Mutation_p.S355C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S355C	p.S355C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			7	1201	+			355			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1063A>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	A	15.73	2.919294	0.52546	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.87491	-2.26;-2.26	5.37	4.19	0.49359	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.172938	0.50627	D	0.000115	D	0.92743	0.7693	M	0.86178	2.8	0.35598	D	0.807608	D;D;D	0.69078	0.997;0.995;0.996	D;D;D	0.64506	0.911;0.917;0.926	D	0.94896	0.8052	10	0.66056	D	0.02	.	11.6297	0.51166	0.8509:0.1491:0.0:0.0	.	355;355;355	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	C	355	ENSP00000274181:S355C;ENSP00000421631:S355C	ENSP00000274181:S355C	S	+	1	0	ADAMTS16	5243099	0.998000	0.40836	0.979000	0.43373	0.323000	0.28346	5.562000	0.67346	0.851000	0.35264	0.528000	0.53228	AGT		0.473	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1		NM_139056		11	110	0	0	0	0.013537	0	11	110		
ADCY2	108	broad.mit.edu	37	5	7695884	7695884	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:7695884G>A	ENST00000338316.4	+	6	978	c.889G>A	c.(889-891)Gtt>Att	p.V297I	ADCY2_ENST00000537121.1_Missense_Mutation_p.V117I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	297					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGCTGACATCGTTGGCTTTAC	0.408																																						uc003jdz.1		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(889-891)GTT>ATT		adenylate cyclase 2							95.0	86.0	89.0					5																	7695884		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7695884G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.889G>A	5.37:g.7695884G>A	ENSP00000342952:p.Val297Ile					ADCY2_uc011cmo.1_Missense_Mutation_p.V117I	p.V297I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			6	956	+			297			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.889G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.330977	0.81690	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.86164	-2.08;-2.08;-2.08	5.51	5.51	0.81932	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95172	0.8435	M	0.91717	3.235	0.54753	D	0.99998	D;D	0.89917	0.991;1.0	D;D	0.85130	0.97;0.997	D	0.95289	0.8393	10	0.59425	D	0.04	.	19.7837	0.96428	0.0:0.0:1.0:0.0	.	117;297	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	297;148;86;117	ENSP00000342952:V297I;ENSP00000425069:V86I;ENSP00000444803:V117I	ENSP00000342952:V297I	V	+	1	0	ADCY2	7748884	1.000000	0.71417	0.167000	0.22817	0.353000	0.29299	9.382000	0.97209	2.738000	0.93877	0.655000	0.94253	GTT		0.408	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		34	57	0	0	0	0.015359	0	34	57		
FASTKD3	79072	broad.mit.edu	37	5	7867275	7867275	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:7867275G>C	ENST00000264669.5	-	2	1058	c.922C>G	c.(922-924)Caa>Gaa	p.Q308E	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	308					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTTGACTTTGATCAAGAACC	0.393																																						uc003jeb.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(922-924)CAA>GAA		FAST kinase domains 3							85.0	96.0	92.0					5																	7867275		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867275G>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.922C>G	5.37:g.7867275G>C	ENSP00000264669:p.Gln308Glu					FASTKD3_uc011cmp.1_Missense_Mutation_p.Q10E|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.Q308E	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	1059	-			308					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.922C>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342645	0.82022	.	.	ENSG00000124279	ENST00000264669	T	0.15372	2.43	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	M	0.64404	1.975	0.80722	D	1	P	0.44044	0.825	B	0.36335	0.222	T	0.11324	-1.0592	10	0.05959	T	0.93	-21.2113	18.1841	0.89788	0.0:0.0:1.0:0.0	.	308	Q14CZ7	FAKD3_HUMAN	E	308	ENSP00000264669:Q308E	ENSP00000264669:Q308E	Q	-	1	0	FASTKD3	7920275	1.000000	0.71417	0.604000	0.28916	0.915000	0.54546	8.850000	0.92190	2.506000	0.84524	0.655000	0.94253	CAA		0.393	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1		NM_024091		25	204	0	0	0	0.005443	0	25	204		
CTNND2	1501	broad.mit.edu	37	5	11098851	11098851	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:11098851C>A	ENST00000304623.8	-	15	2662	c.2473G>T	c.(2473-2475)Gta>Tta	p.V825L	CTNND2_ENST00000511377.1_Missense_Mutation_p.V734L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000503622.1_Missense_Mutation_p.V488L|CTNND2_ENST00000458100.2_Missense_Mutation_p.V392L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	825					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGAGGTCCTACTCCATCCCAC	0.468																																						uc003jfa.1		NaN																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2473-2475)GTA>TTA		catenin (cadherin-associated protein), delta 2							119.0	110.0	113.0					5																	11098851		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11098851C>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2473G>T	5.37:g.11098851C>A	ENSP00000307134:p.Val825Leu					CTNND2_uc010itt.2_Missense_Mutation_p.V734L|CTNND2_uc011cmy.1_Missense_Mutation_p.V488L|CTNND2_uc011cmz.1_Missense_Mutation_p.V392L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.V392L	p.V825L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			15	2618	-			825					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2473G>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667823	0.67814	.	.	ENSG00000169862	ENST00000304623;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79958	0.4536	L	0.59436	1.845	0.80722	D	1	B;B;B	0.29988	0.243;0.243;0.264	B;B;B	0.24541	0.048;0.033;0.054	T	0.77013	-0.2745	10	0.72032	D	0.01	-13.8369	20.8794	0.99867	0.0:1.0:0.0:0.0	.	488;392;825	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	L	825;734;392;488	ENSP00000307134:V825L;ENSP00000426510:V734L;ENSP00000391155:V392L;ENSP00000426887:V488L	ENSP00000307134:V825L	V	-	1	0	CTNND2	11151851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.079000	0.71291	2.941000	0.99782	0.655000	0.94253	GTA		0.468	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332		9	83	1	0	3.86212e-05	0.008291	4.98105e-05	9	83		
TRIO	7204	broad.mit.edu	37	5	14381300	14381300	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:14381300C>G	ENST00000344204.4	+	21	3533	c.3509C>G	c.(3508-3510)tCc>tGc	p.S1170C	TRIO_ENST00000509967.2_Missense_Mutation_p.S1121C|TRIO_ENST00000537187.1_Missense_Mutation_p.S1170C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1170					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCACGGGCTCCAGTATACAG	0.512																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3508-3510)TCC>TGC		triple functional domain (PTPRF interacting)							90.0	86.0	87.0					5																	14381300		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14381300C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3509C>G	5.37:g.14381300C>G	ENSP00000339299:p.Ser1170Cys					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.S1121C|TRIO_uc003jfh.1_Missense_Mutation_p.S819C	p.S1170C	NM_007118	NP_009049	O75962	TRIO_HUMAN			21	3515	+	Lung NSC(4;0.000742)		1170			Spectrin 4.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3509C>G	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375621	0.42105	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52057	0.68;0.68;0.68	5.28	5.28	0.74379	.	0.058259	0.64402	D	0.000001	T	0.58119	0.2100	L	0.34521	1.04	0.52501	D	0.99995	D;B;D	0.71674	0.998;0.13;0.997	P;B;D	0.64237	0.882;0.103;0.923	T	0.59080	-0.7521	10	0.51188	T	0.08	.	18.9199	0.92520	0.0:1.0:0.0:0.0	.	1121;1170;1170	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	C	1170;1170;1121;857	ENSP00000339299:S1170C;ENSP00000446348:S1170C;ENSP00000445592:S1121C	ENSP00000339299:S1170C	S	+	2	0	TRIO	14434300	1.000000	0.71417	0.225000	0.23894	0.437000	0.31866	7.463000	0.80869	2.470000	0.83445	0.655000	0.94253	TCC		0.512	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		70	130	0	0	0	0.01441	0	70	130		
TRIO	7204	broad.mit.edu	37	5	14387928	14387928	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:14387928G>C	ENST00000344204.4	+	23	3877	c.3853G>C	c.(3853-3855)Gag>Cag	p.E1285Q	TRIO_ENST00000509967.2_Missense_Mutation_p.E1236Q|TRIO_ENST00000537187.1_Missense_Mutation_p.E1285Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1285					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACTTAATGAAGAGAAGCGGAA	0.443																																						uc003jff.2		NaN																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3853-3855)GAG>CAG		triple functional domain (PTPRF interacting)							65.0	68.0	67.0					5																	14387928		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14387928G>C	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3853G>C	5.37:g.14387928G>C	ENSP00000339299:p.Glu1285Gln					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.E1236Q|TRIO_uc003jfh.1_Missense_Mutation_p.E934Q	p.E1285Q	NM_007118	NP_009049	O75962	TRIO_HUMAN			23	3859	+	Lung NSC(4;0.000742)		1285					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.3853G>C	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143389	0.77888	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.69306	-0.37;-0.39;0.28	5.76	5.76	0.90799	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.80422	2.495	0.80722	D	1	D;B;D	0.63880	0.992;0.081;0.993	D;B;D	0.72982	0.929;0.099;0.979	T	0.82476	-0.0438	10	0.45353	T	0.12	.	19.9732	0.97292	0.0:0.0:1.0:0.0	.	1236;1285;1285	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	Q	1285;1285;1236;972	ENSP00000339299:E1285Q;ENSP00000446348:E1285Q;ENSP00000445592:E1236Q	ENSP00000339299:E1285Q	E	+	1	0	TRIO	14440928	1.000000	0.71417	0.917000	0.36280	0.879000	0.50718	9.813000	0.99286	2.740000	0.93945	0.650000	0.86243	GAG		0.443	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2		NM_007118		13	106	0	0	0	0.016723	0	13	106		
MARCH11	441061	broad.mit.edu	37	5	16177939	16177939	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:16177939G>T	ENST00000332432.8	-	2	788	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	RP11-19O2.2_ENST00000509037.1_RNA|MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	197					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AGGCACAGCTGATGTGTATAC	0.423																																						uc003jfo.2		NaN																	0					0						c.(589-591)CAG>AAG		membrane-associated ring finger (C3HC4) 11							105.0	102.0	103.0					5																	16177939		1928	4137	6065	SO:0001583	missense	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16177939G>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.589C>A	5.37:g.16177939G>T	ENSP00000333181:p.Gln197Lys					uc003jfp.2_5'Flank	p.Q197K	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			2	802	-			197			RING-CH-type.		A7E2S6	Missense_Mutation	SNP	ENST00000332432.8	37	c.589C>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804942	0.90623	.	.	ENSG00000183654	ENST00000332432	T	0.41400	1.0	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.343049	0.23547	N	0.047003	T	0.58652	0.2137	L	0.60904	1.88	0.80722	D	1	P	0.46064	0.872	P	0.54664	0.758	T	0.58532	-0.7620	10	0.72032	D	0.01	-10.1966	19.7964	0.96487	0.0:0.0:1.0:0.0	.	197	A6NNE9	MARHB_HUMAN	K	197	ENSP00000333181:Q197K	ENSP00000333181:Q197K	Q	-	1	0	MARCH11	16230939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.756000	0.98918	2.702000	0.92279	0.655000	0.94253	CAG		0.423	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2		NM_001102562		14	128	1	0	2.32078e-09	0.003163	3.11444e-09	14	128		
CDH12	1010	broad.mit.edu	37	5	21802336	21802336	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:21802336A>T	ENST00000382254.1	-	10	2282	c.1196T>A	c.(1195-1197)gTa>gAa	p.V399E	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.V399E|CDH12_ENST00000522262.1_Missense_Mutation_p.V359E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GATGGTCCCTACCGGAGTGTC	0.478										HNSCC(59;0.17)																												uc010iuc.2		NaN																	0				ovary(2)	2						c.(1195-1197)GTA>GAA		cadherin 12, type 2 preproprotein							96.0	73.0	81.0					5																	21802336		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21802336A>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1196T>A	5.37:g.21802336A>T	ENSP00000371689:p.Val399Glu	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.V359E|CDH12_uc003jgk.2_Missense_Mutation_p.V399E	p.V399E	NM_004061	NP_004052	P55289	CAD12_HUMAN			7	1654	-			399			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1196T>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	4.653	0.121457	0.08881	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.53640	0.61;0.61;0.61	5.84	5.84	0.93424	Cadherin (3);Cadherin-like (1);	0.201601	0.45867	D	0.000332	T	0.44222	0.1283	M	0.64404	1.975	0.37310	D	0.909086	B;B	0.15141	0.003;0.012	B;B	0.21917	0.034;0.037	T	0.45071	-0.9286	10	0.21014	T	0.42	.	10.5353	0.45000	0.9282:0.0:0.0718:0.0	.	359;399	B7Z2U6;P55289	.;CAD12_HUMAN	E	399;399;359	ENSP00000423577:V399E;ENSP00000371689:V399E;ENSP00000428786:V359E	ENSP00000371689:V399E	V	-	2	0	CDH12	21838093	0.219000	0.23619	0.031000	0.17742	0.014000	0.08584	3.747000	0.55134	2.232000	0.73038	0.533000	0.62120	GTA		0.478	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1		NM_004061		19	17	0	0	0	0.008871	0	19	17		
PRDM9	56979	broad.mit.edu	37	5	23526574	23526574	+	Silent	SNP	G	G	A	rs112001060		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:23526574G>A	ENST00000296682.3	+	11	1559	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	459					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R459S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAAAGAAAGGTCCAAACTCT	0.468										HNSCC(3;0.000094)																												uc003jgo.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1375-1377)AGG>AGA		PR domain containing 9							44.0	45.0	45.0					5																	23526574		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526574G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1377G>A	5.37:g.23526574G>A		HNSCC(3;0.000094)					p.R459R	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1559	+			459					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1377G>A	CCDS43307.1																																																																																				0.468	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227		29	17	0	0	0	0.005443	0	29	17		
MTMR12	54545	broad.mit.edu	37	5	32239280	32239280	+	Splice_Site	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:32239280C>G	ENST00000382142.3	-	13	1342		c.e13-1		MTMR12_ENST00000264934.5_Splice_Site|MTMR12_ENST00000280285.5_Splice_Site	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12							cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCATTCTCCTCTAGGAGAGGC	0.483																																						uc003jhq.2		NaN																	0				ovary(1)	1						c.e13-1		myotubularin related protein 12							53.0	53.0	53.0					5																	32239280		2203	4300	6503	SO:0001630	splice_region_variant	54545					cytoplasm	phosphatase activity	g.chr5:32239280C>G	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1172-1G>C	5.37:g.32239280C>G						MTMR12_uc010iuk.2_Splice_Site_p.E391_splice|MTMR12_uc010iul.2_Splice_Site_p.E391_splice	p.E391_splice	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			13	1342	-								Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Splice_Site	SNP	ENST00000382142.3	37	c.1172_splice	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589047	0.86851	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4844	0.95024	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTMR12	32275037	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.398000	0.79919	2.678000	0.91216	0.557000	0.71058	.		0.483	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1		NM_019061	Intron	14	90	0	0	0	0.003163	0	14	90		
OSMR	9180	broad.mit.edu	37	5	38917668	38917668	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:38917668G>A	ENST00000274276.3	+	10	1708	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	436	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGCCCCTGATGTCTGGAGAAT	0.408																																						uc003jln.1		NaN																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1306-1308)GTC>ATC		oncostatin M receptor precursor							120.0	120.0	120.0					5																	38917668		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38917668G>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1306G>A	5.37:g.38917668G>A	ENSP00000274276:p.Val436Ile					OSMR_uc011cpj.1_5'UTR	p.V436I	NM_003999	NP_003990	Q99650	OSMR_HUMAN			10	1673	+	all_lung(31;0.000365)		436			Fibronectin type-III 2.|Extracellular (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.1306G>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416186	0.25552	.	.	ENSG00000145623	ENST00000274276;ENST00000513831	T;T	0.53206	0.63;0.98	5.37	3.22	0.36961	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.870138	0.10155	N	0.709062	T	0.33352	0.0860	L	0.46157	1.445	0.38779	D	0.954723	B	0.33857	0.429	B	0.20384	0.029	T	0.20273	-1.0280	10	0.25106	T	0.35	.	5.8216	0.18530	0.2685:0.0:0.7315:0.0	.	436	Q99650	OSMR_HUMAN	I	436;43	ENSP00000274276:V436I;ENSP00000423913:V43I	ENSP00000274276:V436I	V	+	1	0	OSMR	38953425	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	0.802000	0.27069	1.289000	0.44618	0.650000	0.86243	GTC		0.408	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2		NM_003999		22	174	0	0	0	0.012319	0	22	174		
PTGER4	5734	broad.mit.edu	37	5	40692210	40692210	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:40692210C>G	ENST00000302472.3	+	3	2221	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	399					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGCCAGACCTCTCACTGCCAG	0.572																																						uc003jlz.2		NaN																	0				lung(2)	2						c.(1195-1197)CTC>CTG		prostaglandin E receptor 4, subtype EP4							67.0	63.0	65.0					5																	40692210		2203	4300	6503	SO:0001819	synonymous_variant	5734				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	g.chr5:40692210C>G	L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1197C>G	5.37:g.40692210C>G							p.L399L	NM_000958	NP_000949	P35408	PE2R4_HUMAN			3	1789	+			399			Cytoplasmic (Potential).		Q3MJ87	Silent	SNP	ENST00000302472.3	37	c.1197C>G	CCDS3930.1																																																																																				0.572	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211578.2		NM_000958		12	124	0	0	0	0.016723	0	12	124		
CARD6	84674	broad.mit.edu	37	5	40843437	40843437	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:40843437G>C	ENST00000254691.5	+	2	666	c.467G>C	c.(466-468)aGg>aCg	p.R156T	CARD6_ENST00000381677.3_Missense_Mutation_p.R156T	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	156					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ACTAGTTATAGGGAAACAGCT	0.418																																						uc003jmg.2		NaN																	0				ovary(2)|skin(2)|lung(1)	5						c.(466-468)AGG>ACG		caspase recruitment domain family, member 6							58.0	60.0	59.0					5																	40843437		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40843437G>C	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.467G>C	5.37:g.40843437G>C	ENSP00000254691:p.Arg156Thr						p.R156T	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			2	542	+			156					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.467G>C	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394479	0.42512	.	.	ENSG00000132357	ENST00000254691;ENST00000381677;ENST00000444789;ENST00000509771	T;T	0.35048	2.53;1.33	5.12	-7.05	0.01573	.	2.005660	0.02091	N	0.053175	T	0.21590	0.0520	L	0.27053	0.805	0.09310	N	1	B	0.29432	0.244	B	0.27500	0.08	T	0.13683	-1.0500	10	0.42905	T	0.14	-0.0563	4.862	0.13588	0.6128:0.1187:0.158:0.1105	.	156	Q9BX69	CARD6_HUMAN	T	156	ENSP00000254691:R156T;ENSP00000371093:R156T	ENSP00000254691:R156T	R	+	2	0	CARD6	40879194	0.000000	0.05858	0.000000	0.03702	0.385000	0.30292	-1.025000	0.03600	-1.315000	0.02297	-0.150000	0.13652	AGG		0.418	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3				4	73	0	0	0	0.009096	0	4	73		
HEXB	3074	broad.mit.edu	37	5	74014165	74014165	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74014165G>C	ENST00000261416.7	+	10	1336	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	HEXB_ENST00000511181.1_Missense_Mutation_p.E182Q|HEXB_ENST00000513539.1_3'UTR|GFM2_ENST00000515125.1_5'Flank|HEXB_ENST00000509579.1_5'Flank	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	407					astrocyte cell migration (GO:0043615)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|ganglioside catabolic process (GO:0006689)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|lipid storage (GO:0019915)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|male courtship behavior (GO:0008049)|myelination (GO:0042552)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|oogenesis (GO:0048477)|penetration of zona pellucida (GO:0007341)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGTCTGGCAGGAGGTTTTTGA	0.328																																					Melanoma(66;841 1270 13391 18706 27225)	uc003kdf.3		NaN																	0				ovary(1)	1						c.(1219-1221)GAG>CAG		hexosaminidase B preproprotein							105.0	112.0	109.0					5																	74014165		2203	4300	6503	SO:0001583	missense	3074				cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity	g.chr5:74014165G>C	M13519	CCDS4022.1	5q13.3	2012-10-02			ENSG00000049860	ENSG00000049860	3.2.1.52		4879	protein-coding gene	gene with protein product		606873				2579389, 3013851	Standard	NM_000521		Approved		uc003kdf.4	P07686	OTTHUMG00000102057	ENST00000261416.7:c.1219G>C	5.37:g.74014165G>C	ENSP00000261416:p.Glu407Gln					HEXB_uc003kdd.2_Missense_Mutation_p.E182Q|HEXB_uc010izh.2_RNA|HEXB_uc003kdg.1_RNA|HEXB_uc010izi.1_RNA	p.E407Q	NM_000521	NP_000512	P07686	HEXB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)	10	1336	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	407						Missense_Mutation	SNP	ENST00000261416.7	37	c.1219G>C	CCDS4022.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.331232|5.331232	0.95733|0.95733	.|.	.|.	ENSG00000049860|ENSG00000049860	ENST00000511181;ENST00000261416|ENST00000513336	D;D|.	0.92545|.	-3.06;-3.06|.	5.95|5.95	5.95|5.95	0.96441|0.96441	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);|.	0.089505|.	0.85682|.	D|.	0.000000|.	D|D	0.90717|0.90717	0.7087|0.7087	H|H	0.97415|0.97415	4|4	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.68039|.	0.955|.	D|D	0.93078|0.93078	0.6489|0.6489	10|5	0.87932|.	D|.	0|.	-17.0532|-17.0532	20.3789|20.3789	0.98926|0.98926	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	407|.	P07686|.	HEXB_HUMAN|.	Q|A	182;407|52	ENSP00000426285:E182Q;ENSP00000261416:E407Q|.	ENSP00000261416:E407Q|.	E|G	+|+	1|2	0|0	HEXB|HEXB	74049921|74049921	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	9.837000|9.837000	0.99465|0.99465	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.328	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6		NM_000521		11	44	0	0	0	0.020292	0	11	44		
GFM2	84340	broad.mit.edu	37	5	74054712	74054712	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74054712C>T	ENST00000296805.3	-	5	723	c.266G>A	c.(265-267)aGa>aAa	p.R89K	GFM2_ENST00000427854.2_Missense_Mutation_p.R89K|GFM2_ENST00000345239.2_Missense_Mutation_p.R89K|GFM2_ENST00000509430.1_Missense_Mutation_p.R89K	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GTACAATATTCTTTCTGTGGT	0.358																																						uc003kdh.1		NaN																	0					0						c.(265-267)AGA>AAA		mitochondrial elongation factor G2 isoform 1							158.0	142.0	148.0					5																	74054712		2203	4300	6503	SO:0001583	missense	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74054712C>T	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.266G>A	5.37:g.74054712C>T	ENSP00000296805:p.Arg89Lys					GFM2_uc003kdi.1_Missense_Mutation_p.R89K|GFM2_uc010izj.1_Missense_Mutation_p.R121K|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.R89K|GFM2_uc010izl.1_Missense_Mutation_p.R89K	p.R89K	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	5	570	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	89						Missense_Mutation	SNP	ENST00000296805.3	37	c.266G>A	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	C	35	5.492434	0.96339	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000509097;ENST00000506778	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.72	5.72	0.89469	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.83552	0.5279	M	0.63169	1.94	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0	D;D;D;D;D	0.97110	0.998;1.0;0.998;0.997;1.0	D	0.84257	0.0481	10	0.87932	D	0	-20.9835	19.8733	0.96858	0.0:1.0:0.0:0.0	.	89;89;89;89;89	F5H687;Q969S9-3;Q969S9-5;Q969S9-2;Q969S9	.;.;.;.;RRF2M_HUMAN	K	89;89;89;89;89;89;14	ENSP00000296805:R89K;ENSP00000296804:R89K;ENSP00000427004:R89K;ENSP00000405808:R89K;ENSP00000421717:R89K;ENSP00000424877:R14K	ENSP00000296805:R89K	R	-	2	0	GFM2	74090468	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.360000	0.79487	2.698000	0.92095	0.455000	0.32223	AGA		0.358	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2		NM_032380		3	32	0	0	0	0.009096	0	3	32		
POC5	134359	broad.mit.edu	37	5	74990490	74990490	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:74990490C>T	ENST00000428202.2	-	6	869	c.680G>A	c.(679-681)aGa>aAa	p.R227K	POC5_ENST00000380475.2_Missense_Mutation_p.R110K|POC5_ENST00000510798.1_Missense_Mutation_p.R110K|POC5_ENST00000446329.2_Missense_Mutation_p.R202K|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000514838.2_Missense_Mutation_p.R199K	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	227					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCATCTTTTCTCCCAATGGA	0.294																																						uc003keh.3		NaN																	0				lung(1)	1						c.(679-681)AGA>AAA		proteome of centriole 5 isoform 1							60.0	55.0	57.0					5																	74990490		1782	4054	5836	SO:0001583	missense	134359				cell cycle	centriole		g.chr5:74990490C>T	AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.680G>A	5.37:g.74990490C>T	ENSP00000410216:p.Arg227Lys					POC5_uc010izu.2_Missense_Mutation_p.R110K|POC5_uc003keg.3_Missense_Mutation_p.R202K	p.R227K	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN			6	877	-			227					B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	ENST00000428202.2	37	c.680G>A	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341213	0.81911	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329;ENST00000503835	T;T;T;T;T	0.52057	1.67;1.28;0.68;0.68;1.66	5.32	5.32	0.75619	.	0.145303	0.64402	D	0.000002	T	0.62720	0.2451	M	0.78637	2.42	0.54753	D	0.999981	D;B;B	0.54601	0.967;0.11;0.222	P;B;B	0.50708	0.648;0.178;0.165	T	0.69339	-0.5171	10	0.87932	D	0	-9.1932	19.0713	0.93138	0.0:1.0:0.0:0.0	.	110;227;202	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	K	227;199;110;110;202;110	ENSP00000410216:R227K;ENSP00000420971:R199K;ENSP00000369842:R110K;ENSP00000426796:R110K;ENSP00000399481:R202K	ENSP00000369842:R110K	R	-	2	0	POC5	75026246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.871000	0.75531	2.516000	0.84829	0.650000	0.86243	AGA		0.294	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1		NM_152408		5	25	0	0	0	0.014758	0	5	25		
GPR98	84059	broad.mit.edu	37	5	90281315	90281315	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:90281315T>A	ENST00000405460.2	+	85	18224	c.18128T>A	c.(18127-18129)aTc>aAc	p.I6043N	GPR98_ENST00000425867.2_Missense_Mutation_p.I1704N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6043					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTCACAGATCTATGGACTC	0.423																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(18127-18129)ATC>AAC		G protein-coupled receptor 98 precursor							177.0	161.0	166.0					5																	90281315		1924	4143	6067	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90281315T>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18128T>A	5.37:g.90281315T>A	ENSP00000384582:p.Ile6043Asn					GPR98_uc003kjt.2_Missense_Mutation_p.I3749N|GPR98_uc003kjw.2_Missense_Mutation_p.I1704N|GPR98_uc003kjx.2_Missense_Mutation_p.I71N	p.I6043N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	85	18224	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	6043			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.18128T>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358387	0.41801	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28255	1.65;1.62	5.7	4.53	0.55603	GPCR, family 2-like (1);	0.114225	0.64402	D	0.000019	T	0.38799	0.1054	L	0.44542	1.39	0.54753	D	0.999983	P;P;P	0.47841	0.901;0.901;0.879	P;P;P	0.54815	0.761;0.577;0.648	T	0.05818	-1.0862	9	.	.	.	.	11.8348	0.52316	0.0:0.0692:0.0:0.9308	.	1704;6043;1704	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	6043;6043;1704	ENSP00000384582:I6043N;ENSP00000392618:I1704N	.	I	+	2	0	GPR98	90317071	1.000000	0.71417	0.999000	0.59377	0.339000	0.28857	4.864000	0.62990	0.976000	0.38417	0.455000	0.32223	ATC		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		14	16	0	0	0	0.004007	0	14	16		
TRIM36	55521	broad.mit.edu	37	5	114473227	114473227	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:114473227C>G	ENST00000282369.3	-	6	1075	c.954G>C	c.(952-954)ttG>ttC	p.L318F	TRIM36_ENST00000514154.1_Missense_Mutation_p.L163F|TRIM36_ENST00000513154.1_Missense_Mutation_p.L306F	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	318					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CAATTGCTTTCAAAACAGATG	0.368																																						uc003kqs.2		NaN																	0				ovary(4)|lung(2)|breast(2)	8						c.(952-954)TTG>TTC		tripartite motif-containing 36 isoform 1							130.0	137.0	134.0					5																	114473227		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114473227C>G	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.954G>C	5.37:g.114473227C>G	ENSP00000282369:p.Leu318Phe					TRIM36_uc011cwc.1_Missense_Mutation_p.L306F|TRIM36_uc003kqt.2_Missense_Mutation_p.L163F	p.L318F	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	6	1463	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	318			Potential.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.954G>C	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518603	0.27211	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.71222	0.09;0.19;-0.55	5.53	4.65	0.58169	.	0.347225	0.30201	N	0.010169	T	0.53158	0.1779	N	0.17082	0.46	0.80722	D	1	B;B	0.13145	0.004;0.007	B;B	0.15484	0.008;0.013	T	0.52298	-0.8594	10	0.49607	T	0.09	.	10.0941	0.42464	0.1273:0.6542:0.2184:0.0	.	306;318	E9PFI8;Q9NQ86	.;TRI36_HUMAN	F	318;306;163	ENSP00000282369:L318F;ENSP00000423934:L306F;ENSP00000424259:L163F	ENSP00000282369:L318F	L	-	3	2	TRIM36	114501126	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	1.009000	0.29886	2.602000	0.87976	0.579000	0.79373	TTG		0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2		NM_018700		40	76	0	0	0	0.00623	0	40	76		
LRRTM2	26045	broad.mit.edu	37	5	138209627	138209627	+	Missense_Mutation	SNP	C	C	T	rs562960503		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:138209627C>T	ENST00000274711.6	-	2	1001	c.623G>A	c.(622-624)aGa>aAa	p.R208K	CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000520400.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000518785.1_3'UTR|LRRTM2_ENST00000523537.1_5'Flank	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	208					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGAAGCTCTCTCAGTTTAAT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20444	0.001		0.0	False		,,,				2504	0.0					uc011cyz.1		NaN																	0					0						c.(622-624)AGA>AAA		leucine rich repeat transmembrane neuronal 2							185.0	183.0	183.0					5																	138209627		1936	4140	6076	SO:0001583	missense	26045					cell junction|integral to membrane|postsynaptic membrane		g.chr5:138209627C>T	AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.623G>A	5.37:g.138209627C>T	ENSP00000274711:p.Arg208Lys					CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Missense_Mutation_p.R74K|CTNNA1_uc003ldl.2_5'Flank	p.R208K	NM_015564	NP_056379	O43300	LRRT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	1080	-			208			Extracellular (Potential).|LRR 7.		A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	ENST00000274711.6	37	c.623G>A	CCDS47272.1	.	.	.	.	.	.	.	.	.	.	C	0.048	-1.259824	0.01445	.	.	ENSG00000146006	ENST00000274711	T	0.08008	3.14	5.49	3.72	0.42706	.	0.058497	0.64402	D	0.000004	T	0.04272	0.0118	N	0.20574	0.59	0.40441	D	0.980042	B;B	0.14438	0.001;0.01	B;B	0.15052	0.004;0.012	T	0.27606	-1.0069	10	0.02654	T	1	.	7.5976	0.28056	0.0:0.7191:0.1352:0.1457	.	74;208	B7Z4G4;O43300	.;LRRT2_HUMAN	K	208	ENSP00000274711:R208K	ENSP00000274711:R208K	R	-	2	0	LRRTM2	138237526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.145000	0.31577	0.882000	0.36016	0.655000	0.94253	AGA		0.448	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374043.2				159	17	0	0	0	0.01441	0	159	17		
DND1	373863	broad.mit.edu	37	5	140052881	140052881	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140052881C>T	ENST00000542735.1	-	2	160	c.117G>A	c.(115-117)caG>caA	p.Q39Q	HARS_ENST00000504156.1_3'UTR	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	39					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACTTCCTCTGCCCGTTCA	0.667																																						uc003lgt.2		NaN																	0					0						c.(115-117)CAG>CAA		dead end homolog 1							56.0	56.0	56.0					5																	140052881		2203	4300	6503	SO:0001819	synonymous_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052881C>T	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.117G>A	5.37:g.140052881C>T							p.Q39Q	NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	161	-			39						Silent	SNP	ENST00000542735.1	37	c.117G>A	CCDS4236.1																																																																																				0.667	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2		NM_194249		25	71	0	0	0	0.007291	0	25	71		
PCDHA2	56146	broad.mit.edu	37	5	140176232	140176232	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140176232C>T	ENST00000526136.1	+	1	1683	c.1683C>T	c.(1681-1683)aaC>aaT	p.N561N	PCDHA2_ENST00000378132.1_Silent_p.N561N|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.N561N|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCGGCAC	0.692																																						uc003lhd.2		NaN																	0				ovary(4)	4						c.(1681-1683)AAC>AAT		protocadherin alpha 2 isoform 1 precursor							86.0	84.0	85.0					5																	140176232		2203	4298	6501	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176232C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1683C>T	5.37:g.140176232C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.N561N|PCDHA2_uc011czy.1_Silent_p.N561N	p.N561N	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1789	+			561			Cadherin 5.|Extracellular (Potential).		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1683C>T	CCDS54914.1																																																																																				0.692	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		NM_018905		25	71	0	0	0	0.00632	0	25	71		
PCDHA4	56144	broad.mit.edu	37	5	140187223	140187223	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140187223C>G	ENST00000530339.1	+	1	451	c.451C>G	c.(451-453)Cgg>Ggg	p.R151G	PCDHA4_ENST00000356878.4_Missense_Mutation_p.R151G|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R151G|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	151	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGACTCTCGGTTTCCACT	0.542																																						uc003lhi.2		NaN																	0				ovary(4)|skin(2)	6						c.(451-453)CGG>GGG		protocadherin alpha 4 isoform 1 precursor							68.0	72.0	71.0					5																	140187223		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140187223C>G	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.451C>G	5.37:g.140187223C>G	ENSP00000435300:p.Arg151Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.R151G|PCDHA4_uc011daa.1_Missense_Mutation_p.R151G	p.R151G	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	552	+			151			Extracellular (Potential).|Cadherin 2.		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.451C>G	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	13.74	2.326286	0.41197	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53206	0.63;0.63;0.63	4.62	1.57	0.23409	Cadherin (3);Cadherin-like (1);	0.669254	0.11683	U	0.539594	T	0.72606	0.3481	H	0.95917	3.74	0.09310	N	1	D;D;D	0.60575	0.967;0.979;0.988	P;D;D	0.64687	0.876;0.92;0.928	T	0.59241	-0.7491	10	0.87932	D	0	.	5.6638	0.17684	0.1371:0.619:0.0:0.2439	.	151;151;151	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	G	151	ENSP00000423470:R151G;ENSP00000349344:R151G;ENSP00000435300:R151G	ENSP00000349344:R151G	R	+	1	2	PCDHA4	140167407	0.000000	0.05858	0.135000	0.22099	0.697000	0.40408	-0.703000	0.05063	0.471000	0.27319	0.563000	0.77884	CGG		0.542	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2		NM_018907		5	87	0	0	0	0.014758	0	5	87		
PCDHA9	9752	broad.mit.edu	37	5	140229336	140229336	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140229336C>T	ENST00000532602.1	+	1	2289	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	PCDHA9_ENST00000378122.3_Missense_Mutation_p.S419F|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGTGTGTCCGCCTACGAG	0.637																																					Melanoma(55;1800 1972 14909)	uc003lhu.2		NaN																	0				large_intestine(2)|ovary(2)|skin(1)	5						c.(1255-1257)TCC>TTC		protocadherin alpha 9 isoform 1 precursor							105.0	96.0	99.0					5																	140229336		2196	4273	6469	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140229336C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1256C>T	5.37:g.140229336C>T	ENSP00000436042:p.Ser419Phe					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.S419F	p.S419F	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1980	+			419			Cadherin 4.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1256C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388815	0.25118	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.61274	0.12;0.12	3.6	2.69	0.31865	Cadherin (4);Cadherin-like (1);	1.072990	0.07620	U	0.926883	T	0.78660	0.4318	M	0.90870	3.155	0.09310	N	1	P;P	0.51240	0.943;0.753	P;B	0.58077	0.832;0.246	T	0.63829	-0.6548	10	0.87932	D	0	.	12.1756	0.54184	0.1726:0.8274:0.0:0.0	.	419;419	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	F	419	ENSP00000436042:S419F;ENSP00000367362:S419F	ENSP00000367362:S419F	S	+	2	0	PCDHA9	140209520	0.181000	0.23161	0.001000	0.08648	0.025000	0.11179	4.392000	0.59659	0.767000	0.33267	0.313000	0.20887	TCC		0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2		NM_031857		33	101	0	0	0	0.012213	0	33	101		
PCDHAC2	56134	broad.mit.edu	37	5	140348186	140348186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140348186C>A	ENST00000289269.5	+	1	2367	c.1835C>A	c.(1834-1836)tCa>tAa	p.S612*	PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTATGGACTCAGACTCTGGG	0.507																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NaN																	0				ovary(2)|skin(2)	4						c.(1834-1836)TCA>TAA		protocadherin alpha subfamily C, 2 isoform 1							85.0	77.0	79.0					5																	140348186		2203	4300	6503	SO:0001587	stop_gained	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140348186C>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1835C>A	5.37:g.140348186C>A	ENSP00000289269:p.Ser612*					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Nonsense_Mutation_p.S612*	p.S612*	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2075	+			612			Cadherin 6.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Nonsense_Mutation	SNP	ENST00000289269.5	37	c.1835C>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	42	9.294838	0.99128	.	.	ENSG00000243232	ENST00000289269	.	.	.	6.02	6.02	0.97574	.	0.000000	0.35772	N	0.002990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	10.3654	0.44021	0.0:0.7823:0.1456:0.072	.	.	.	.	X	612	.	ENSP00000289269:S612X	S	+	2	0	PCDHAC2	140328370	0.892000	0.30473	1.000000	0.80357	0.999000	0.98932	1.789000	0.38724	2.865000	0.98341	0.655000	0.94253	TCA		0.507	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2		NM_018899		17	31	1	0	2.35188e-11	0.006122	3.20289e-11	17	31		
PCDHGA10	56106	broad.mit.edu	37	5	140793480	140793480	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:140793480C>T	ENST00000398610.2	+	1	738	c.738C>T	c.(736-738)ttC>ttT	p.F246F	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	246	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)			CGCCGGTCTTCACCTTGCCAG	0.582																																						uc003lkl.1		NaN																	0					0						c.(736-738)TTC>TTT		protocadherin gamma subfamily A, 10 isoform 1							43.0	47.0	46.0					5																	140793480		2043	4180	6223	SO:0001819	synonymous_variant	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140793480C>T		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.738C>T	5.37:g.140793480C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.F246F	p.F246F	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	738	+			246			Extracellular (Potential).|Cadherin 2.		Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.738C>T	CCDS47292.1																																																																																				0.582	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1		NM_018913		9	34	0	0	0	0.008291	0	9	34		
JAKMIP2	9832	broad.mit.edu	37	5	147015815	147015815	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:147015815G>A	ENST00000265272.5	-	12	2114	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	JAKMIP2_ENST00000507386.1_Intron|JAKMIP2_ENST00000333010.6_Silent_p.F507F	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	549						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCTTAATGAAAAGTTGTT	0.468																																						uc003loq.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1645-1647)TTC>TTT		janus kinase and microtubule interacting protein							98.0	85.0	89.0					5																	147015815		2203	4300	6503	SO:0001819	synonymous_variant	9832					Golgi apparatus		g.chr5:147015815G>A	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1647C>T	5.37:g.147015815G>A						JAKMIP2_uc011dbx.1_Silent_p.F507F|JAKMIP2_uc003lor.1_Intron|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Silent_p.F549F	p.F549F	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	2029	-			549			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Silent	SNP	ENST00000265272.5	37	c.1647C>T	CCDS4285.1																																																																																				0.468	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1		NM_014790		6	14	0	0	0	0.001984	0	6	14		
FAM71B	153745	broad.mit.edu	37	5	156589870	156589870	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:156589870G>T	ENST00000302938.4	-	2	1501	c.1406C>A	c.(1405-1407)tCc>tAc	p.S469Y		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	469						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAGATGCGGACCGGTGGGA	0.532																																						uc003lwn.2		NaN																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1405-1407)TCC>TAC		family with sequence similarity 71, member B							205.0	194.0	198.0					5																	156589870		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156589870G>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1406C>A	5.37:g.156589870G>T	ENSP00000305596:p.Ser469Tyr						p.S469Y	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1506	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	469					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.1406C>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680638	0.68042	.	.	ENSG00000170613	ENST00000302938	T	0.20200	2.09	4.64	4.64	0.57946	.	0.000000	0.40064	N	0.001187	T	0.47060	0.1425	M	0.78049	2.395	0.37364	D	0.911333	D	0.89917	1.0	D	0.87578	0.998	T	0.57124	-0.7865	10	0.87932	D	0	-19.1641	13.7477	0.62885	0.0:0.0:1.0:0.0	.	469	Q8TC56	FA71B_HUMAN	Y	469	ENSP00000305596:S469Y	ENSP00000305596:S469Y	S	-	2	0	FAM71B	156522448	0.775000	0.28604	0.888000	0.34837	0.024000	0.10985	2.442000	0.44873	2.500000	0.84329	0.655000	0.94253	TCC		0.532	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2		NM_130899		130	22	1	0	2.27054e-47	0.01441	3.22472e-47	130	22		
TENM2	57451	broad.mit.edu	37	5	167625892	167625892	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:167625892A>T	ENST00000518659.1	+	16	2974	c.2935A>T	c.(2935-2937)Act>Tct	p.T979S	TENM2_ENST00000545108.1_Missense_Mutation_p.T979S|TENM2_ENST00000519204.1_Missense_Mutation_p.T858S|TENM2_ENST00000403607.2_Missense_Mutation_p.T803S|TENM2_ENST00000520394.1_Missense_Mutation_p.T747S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	979					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGCTTCCTTGACTCTACACTT	0.547																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(2908-2910)ACT>TCT		odz, odd Oz/ten-m homolog 2							98.0	100.0	99.0					5																	167625892		2072	4211	6283	SO:0001583	missense	57451							g.chr5:167625892A>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2935A>T	5.37:g.167625892A>T	ENSP00000429430:p.Thr979Ser					ODZ2_uc003lzr.3_Missense_Mutation_p.T747S|ODZ2_uc003lzt.3_Missense_Mutation_p.T343S|ODZ2_uc010jje.2_Missense_Mutation_p.T241S	p.T970S	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	16	2908	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2908A>T		.	.	.	.	.	.	.	.	.	.	A	20.2	3.946708	0.73672	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.52	5.52	0.82312	Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.32793	0.0841	M	0.75264	2.295	0.47778	D	0.999517	D;P;P	0.54047	0.964;0.94;0.587	P;P;B	0.56127	0.792;0.624;0.225	T	0.05533	-1.0879	10	0.59425	D	0.04	.	15.6352	0.76946	1.0:0.0:0.0:0.0	.	979;979;747	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	979;979;858;747;803	ENSP00000429430:T979S;ENSP00000438635:T979S;ENSP00000428964:T858S;ENSP00000427874:T747S;ENSP00000384905:T803S	ENSP00000384905:T803S	T	+	1	0	ODZ2	167558470	1.000000	0.71417	0.996000	0.52242	0.741000	0.42261	9.339000	0.96797	2.096000	0.63516	0.460000	0.39030	ACT		0.547	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		45	26	0	0	0	0.01441	0	45	26		
CDHR2	54825	broad.mit.edu	37	5	176008383	176008383	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176008383C>G	ENST00000510636.1	+	17	2132	c.1858C>G	c.(1858-1860)Ctg>Gtg	p.L620V	CDHR2_ENST00000261944.5_Missense_Mutation_p.L620V|CDHR2_ENST00000506348.1_Missense_Mutation_p.L620V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	620	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAACAGCCGTCTGCTCTTCAA	0.632																																						uc003mem.1		NaN																	0				ovary(2)	2						c.(1858-1860)CTG>GTG		protocadherin LKC precursor							74.0	63.0	67.0					5																	176008383		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176008383C>G	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1858C>G	5.37:g.176008383C>G	ENSP00000424565:p.Leu620Val					CDHR2_uc003men.1_Missense_Mutation_p.L620V	p.L620V	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			17	1924	+			620			Extracellular (Potential).|Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.1858C>G	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165824	0.38217	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.48836	0.8;0.8;0.8	5.47	3.51	0.40186	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42359	0.1199	N	0.16833	0.445	0.21553	N	0.999642	D	0.54047	0.964	P	0.57152	0.814	T	0.13282	-1.0515	9	0.39692	T	0.17	-19.4647	6.1062	0.20075	0.2382:0.5906:0.0:0.1712	.	620	Q9BYE9	CDHR2_HUMAN	V	620	ENSP00000424565:L620V;ENSP00000261944:L620V;ENSP00000421078:L620V	ENSP00000261944:L620V	L	+	1	2	CDHR2	175940989	0.047000	0.20315	0.078000	0.20375	0.910000	0.53928	0.369000	0.20416	1.315000	0.45114	0.549000	0.68633	CTG		0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1		NM_017675		34	9	0	0	0	0.019004	0	34	9		
UNC5A	90249	broad.mit.edu	37	5	176304243	176304243	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176304243G>A	ENST00000329542.4	+	9	1703	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	UNC5A_ENST00000261961.3_Missense_Mutation_p.E437K	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	477	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E477K(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGATCTATGAGATCTACCT	0.642																																						uc003mey.2		NaN																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1429-1431)GAG>AAG		netrin receptor Unc5h1 precursor							67.0	64.0	65.0					5																	176304243		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304243G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1429G>A	5.37:g.176304243G>A	ENSP00000332737:p.Glu477Lys						p.E477K	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1621	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	477			ZU5.|Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.1429G>A	CCDS34299.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256219	0.95336	.	.	ENSG00000113763	ENST00000329542;ENST00000261961	T;T	0.49139	0.79;0.79	5.32	5.32	0.75619	ZU5 (3);	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	M	0.86178	2.8	0.52501	D	0.999959	D	0.89917	1.0	D	0.97110	1.0	T	0.78290	-0.2261	10	0.87932	D	0	-36.7684	18.5781	0.91162	0.0:0.0:1.0:0.0	.	477	Q6ZN44	UNC5A_HUMAN	K	477;437	ENSP00000332737:E477K;ENSP00000261961:E437K	ENSP00000261961:E437K	E	+	1	0	UNC5A	176236849	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.636000	0.83301	2.496000	0.84212	0.484000	0.47621	GAG		0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1		XM_030300		23	45	0	0	0	0.021523	0	23	45		
UNC5A	90249	broad.mit.edu	37	5	176304245	176304245	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176304245G>A	ENST00000329542.4	+	9	1705	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	UNC5A_ENST00000261961.3_Silent_p.E437E	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	477	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATCTATGAGATCTACCTCA	0.642																																						uc003mey.2		NaN																	0				skin(1)	1						c.(1429-1431)GAG>GAA		netrin receptor Unc5h1 precursor							66.0	63.0	64.0					5																	176304245		2203	4300	6503	SO:0001819	synonymous_variant	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176304245G>A	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.1431G>A	5.37:g.176304245G>A							p.E477E	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1623	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	477			ZU5.|Cytoplasmic (Potential).		B2RXE6|Q8TF26|Q96GP4	Silent	SNP	ENST00000329542.4	37	c.1431G>A	CCDS34299.1																																																																																				0.642	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1		XM_030300		24	42	0	0	0	0.021523	0	24	42		
FAM193B	54540	broad.mit.edu	37	5	176952002	176952002	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:176952002C>G	ENST00000514747.1	-	6	1528	c.1480G>C	c.(1480-1482)Gag>Cag	p.E494Q	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Missense_Mutation_p.E120Q|FAM193B_ENST00000443375.2_Missense_Mutation_p.E461Q	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	574						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						ATGCTGAGCTCACACACACTG	0.572																																						uc003mhs.3		NaN																	0					0						c.(1381-1383)GAG>CAG		hypothetical protein LOC54540							85.0	90.0	88.0					5																	176952002		2088	4217	6305	SO:0001583	missense	54540							g.chr5:176952002C>G		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1480G>C	5.37:g.176952002C>G	ENSP00000422131:p.Glu494Gln					FAM193B_uc003mhr.2_5'UTR|FAM193B_uc003mht.2_Missense_Mutation_p.E120Q|FAM193B_uc003mhu.2_Missense_Mutation_p.E173Q|FAM193B_uc003mhv.2_Missense_Mutation_p.E120Q|FAM193B_uc003mhw.2_RNA	p.E461Q	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN			8	2970	-			494					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.1381G>C	CCDS54954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.723058|4.723058	0.89298|0.89298	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540|ENST00000524677	T;T;T|.	0.48522|.	0.87;0.81;0.81|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.046431|.	0.85682|.	D|.	0.000000|.	T|.	0.65821|.	0.2728|.	L|L	0.36672|0.36672	1.1|1.1	0.50171|0.50171	D|D	0.999852|0.999852	D;P;P|.	0.67145|.	0.996;0.949;0.949|.	P;P;P|.	0.59056|.	0.851;0.743;0.6|.	T|.	0.60556|.	-0.7240|.	10|.	0.51188|.	T|.	0.08|.	-17.7707|-17.7707	19.3768|19.3768	0.94514|0.94514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	494;120;461|.	E9PET5;E7ER81;E9PEZ8|.	.;.;.|.	Q|S	494;461;120|179	ENSP00000422131:E494Q;ENSP00000410098:E461Q;ENSP00000332014:E120Q|.	ENSP00000332014:E120Q|.	E|X	-|-	1|2	0|2	FAM193B|FAM193B	176884608|176884608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.345000|7.345000	0.79337|0.79337	2.564000|2.564000	0.86499|0.86499	0.563000|0.563000	0.77884|0.77884	GAG|TGA		0.572	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1		NM_019057		4	91	0	0	0	0.009096	0	4	91		
FAM153C	653316	broad.mit.edu	37	5	177468711	177468711	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr5:177468711G>A	ENST00000507848.1	+	7	352	c.151G>A	c.(151-153)Gag>Aag	p.E51K	FAM153C_ENST00000511189.1_Missense_Mutation_p.E80K|FAM153C_ENST00000398106.2_Missense_Mutation_p.E51K			Q494X1	F153C_HUMAN	family with sequence similarity 153, member C	51										kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGACCTGGAGGAGCATCT	0.522																																						uc011dge.1		NaN																	0					0						c.(151-153)GAG>AAG		hypothetical protein LOC653316							52.0	61.0	58.0					5																	177468711		2109	4242	6351	SO:0001583	missense	653316							g.chr5:177468711G>A	BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000507848.1:c.151G>A	5.37:g.177468711G>A	ENSP00000424623:p.Glu51Lys					FAM153C_uc003mig.1_Missense_Mutation_p.E51K	p.E51K	NM_001079527	NP_001072995			Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	352	+	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						A4IF33|B2RUV5|B7ZW12	Missense_Mutation	SNP	ENST00000507848.1	37	c.151G>A		.	.	.	.	.	.	.	.	.	.	G	11.52	1.663408	0.29515	.	.	ENSG00000204677	ENST00000507848;ENST00000398106;ENST00000511856;ENST00000511189	.	.	.	0.506	0.506	0.16961	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.09310	N	1	P	0.39424	0.673	P	0.44477	0.451	T	0.32481	-0.9905	6	0.62326	D	0.03	.	.	.	.	.	51	Q494X1	F153C_HUMAN	K	51;51;128;80	.	ENSP00000381177:E51K	E	+	1	0	FAM153C	177401317	0.523000	0.26274	0.005000	0.12908	0.132000	0.20833	0.896000	0.28377	0.598000	0.29829	0.121000	0.15741	GAG		0.522	FAM153C-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000373556.1		NM_001079527		61	168	0	0	0	0.01441	0	61	168		
EXOC2	55770	broad.mit.edu	37	6	592509	592509	+	Silent	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:592509G>C	ENST00000230449.4	-	11	1287	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	384					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		AACTGTGCATGAGCTGAAGGA	0.468																																						uc003mtd.2		NaN																	0				breast(4)|ovary(2)|pancreas(1)	7						c.(1150-1152)CTC>CTG		Sec5 protein							145.0	118.0	127.0					6																	592509		2203	4300	6503	SO:0001819	synonymous_variant	55770				exocytosis|protein transport			g.chr6:592509G>C	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1152C>G	6.37:g.592509G>C						EXOC2_uc003mte.2_Silent_p.L384L|EXOC2_uc011dho.1_Intron	p.L384L	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	11	1286	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	384					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	37	c.1152C>G	CCDS34327.1																																																																																				0.468	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1		NM_018303		19	46	0	0	0	0.007413	0	19	46		
HIST1H4D	8360	broad.mit.edu	37	6	26188994	26188994	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26188994C>T	ENST00000340756.2	-	1	310	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	0					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GAGGTAAGCTCAGCCGCCGAA	0.537																																						uc003ngu.2		NaN																	0					0						c.(310-312)TGA>TAA		histone cluster 1, H4d							101.0	85.0	90.0					6																	26188994		2203	4300	6503	SO:0001819	synonymous_variant	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26188994C>T	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.311G>A	6.37:g.26188994C>T							p.*104*	NM_003539	NP_003530	P62805	H4_HUMAN			1	311	-		all_hematologic(11;0.196)	104					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000340756.2	37	c.311G>A	CCDS4589.1																																																																																				0.537	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1		NM_003539		22	69	0	0	0	0.01892	0	22	69		
BTN3A1	11119	broad.mit.edu	37	6	26413833	26413833	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26413833C>T	ENST00000289361.6	+	10	1823	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	BTN3A1_ENST00000414912.2_Silent_p.F433F	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	485	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTCATACTTTCCTGGACGTCT	0.463																																						uc003nhv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1453-1455)TTC>TTT		butyrophilin, subfamily 3, member A1 isoform a							155.0	145.0	148.0					6																	26413833		2203	4300	6503	SO:0001819	synonymous_variant	11119				lipid metabolic process	integral to membrane		g.chr6:26413833C>T	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1455C>T	6.37:g.26413833C>T						BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Silent_p.F433F|BTN3A1_uc010jqj.2_3'UTR	p.F485F	NM_007048	NP_008979	O00481	BT3A1_HUMAN			10	1823	+			485			Cytoplasmic (Potential).|B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Silent	SNP	ENST00000289361.6	37	c.1455C>T	CCDS4608.1																																																																																				0.463	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3				29	127	0	0	0	0.00632	0	29	127		
BTN3A1	11119	broad.mit.edu	37	6	26413848	26413848	+	Missense_Mutation	SNP	C	C	G	rs199657616		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:26413848C>G	ENST00000289361.6	+	10	1838	c.1470C>G	c.(1468-1470)ttC>ttG	p.F490L	BTN3A1_ENST00000414912.2_Missense_Mutation_p.F438L	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	490	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACGTCTCCTTCTCTGAGGCTC	0.458																																						uc003nhv.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1468-1470)TTC>TTG		butyrophilin, subfamily 3, member A1 isoform a							148.0	137.0	141.0					6																	26413848		2203	4300	6503	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26413848C>G	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1470C>G	6.37:g.26413848C>G	ENSP00000289361:p.Phe490Leu					BTN3A1_uc011dkj.1_3'UTR|BTN3A1_uc011dkk.1_Missense_Mutation_p.F438L|BTN3A1_uc010jqj.2_3'UTR	p.F490L	NM_007048	NP_008979	O00481	BT3A1_HUMAN			10	1838	+			490			Cytoplasmic (Potential).|B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1470C>G	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	17.53	3.412236	0.62511	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.68903	-0.36;-0.36	2.31	2.31	0.28768	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.75384	0.3842	M	0.87381	2.88	0.31702	N	0.640587	D;D	0.71674	0.995;0.998	D;D	0.66847	0.924;0.947	T	0.71718	-0.4508	9	0.66056	D	0.02	.	10.6762	0.45787	0.0:1.0:0.0:0.0	.	438;490	E9PGB4;O00481	.;BT3A1_HUMAN	L	490;438	ENSP00000289361:F490L;ENSP00000406667:F438L	ENSP00000289361:F490L	F	+	3	2	BTN3A1	26521827	0.979000	0.34478	0.055000	0.19348	0.109000	0.19521	2.054000	0.41335	1.573000	0.49748	0.609000	0.83330	TTC		0.458	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3				32	113	0	0	0	0.009535	0	32	113		
PRRC2A	7916	broad.mit.edu	37	6	31600510	31600510	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:31600510C>G	ENST00000376033.2	+	16	4294	c.4060C>G	c.(4060-4062)Cct>Gct	p.P1354A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.P1354A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1354	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TGTGGGAACTCCTGGGGGAGG	0.582																																						uc003nvb.3		NaN																	0					0						c.(4060-4062)CCT>GCT		HLA-B associated transcript-2							88.0	94.0	92.0					6																	31600510		1509	2708	4217	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31600510C>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4060C>G	6.37:g.31600510C>G	ENSP00000365201:p.Pro1354Ala					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P1354A	p.P1354A	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	4309	+			1354			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.4060C>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	6.519	0.463936	0.12402	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01821	4.62;4.62	4.79	4.79	0.61399	.	0.123173	0.37437	N	0.002081	T	0.00552	0.0018	N	0.03608	-0.345	0.19775	N	0.999958	B	0.06786	0.001	B	0.06405	0.002	T	0.53287	-0.8460	10	0.87932	D	0	-3.2204	16.7735	0.85545	0.0:1.0:0.0:0.0	.	1354	P48634	PRC2A_HUMAN	A	1348;1337;1354;1354;579	ENSP00000365175:P1354A;ENSP00000365201:P1354A	ENSP00000365175:P1354A	P	+	1	0	PRRC2A	31708489	0.018000	0.18449	0.995000	0.50966	0.821000	0.46438	1.014000	0.29950	2.486000	0.83907	0.561000	0.74099	CCT		0.582	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		24	89	0	0	0	0.016522	0	24	89		
PRRC2A	7916	broad.mit.edu	37	6	31600529	31600529	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:31600529G>C	ENST00000376033.2	+	16	4313	c.4079G>C	c.(4078-4080)gGa>gCa	p.G1360A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1360A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1360	4 X 57 AA type A repeats.|Poly-Gly.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGTGGAGGTGGAGCCGTACCA	0.592																																						uc003nvb.3		NaN																	0					0						c.(4078-4080)GGA>GCA		HLA-B associated transcript-2							101.0	108.0	106.0					6																	31600529		1508	2707	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31600529G>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4079G>C	6.37:g.31600529G>C	ENSP00000365201:p.Gly1360Ala					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.G1360A	p.G1360A	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	4328	+			1360			4 X 57 AA type A repeats.|Poly-Gly.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.4079G>C	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.440699	0.01098	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01787	4.64;4.64	5.22	3.36	0.38483	.	0.126422	0.37348	N	0.002134	T	0.00875	0.0029	L	0.47190	1.495	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45891	-0.9230	10	0.87932	D	0	-2.3142	11.6512	0.51290	0.0:0.3456:0.6544:0.0	.	1360	P48634	PRC2A_HUMAN	A	1354;1343;1360;1360;585	ENSP00000365175:G1360A;ENSP00000365201:G1360A	ENSP00000365175:G1360A	G	+	2	0	PRRC2A	31708508	1.000000	0.71417	0.001000	0.08648	0.015000	0.08874	3.077000	0.50089	0.711000	0.32018	0.561000	0.74099	GGA		0.592	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686		85	49	0	0	0	0.01441	0	85	49		
RXRB	6257	broad.mit.edu	37	6	33165552	33165552	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:33165552G>A	ENST00000374680.3	-	4	1018	c.807C>T	c.(805-807)ggC>ggT	p.G269G	RXRB_ENST00000413614.2_Silent_p.G173G|RXRB_ENST00000374685.4_Silent_p.G269G|RXRB_ENST00000544186.1_Silent_p.G79G|RNY4P10_ENST00000365571.1_RNA	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	269					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCCTCTTCATGCCAGTGGCCA	0.577																																						uc003odb.2		NaN																	0				ovary(3)	3						c.(805-807)GGC>GGT		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						60.0	55.0	57.0					6																	33165552		1511	2709	4220	SO:0001819	synonymous_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33165552G>A	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.807C>T	6.37:g.33165552G>A						RXRB_uc003odc.2_Silent_p.G269G|RXRB_uc003odd.2_Silent_p.G173G|RXRB_uc011dqr.1_Silent_p.G79G|RXRB_uc011dqs.1_Silent_p.G152G|RXRB_uc003ode.1_Silent_p.G133G|RXRB_uc011dqt.1_Silent_p.G269G|RXRB_uc011dqu.1_Silent_p.G173G	p.G269G	NM_021976	NP_068811	P28702	RXRB_HUMAN			4	986	-			269			Nuclear receptor.		P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	ENST00000374680.3	37	c.807C>T	CCDS4768.1																																																																																				0.577	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2		NM_021976		7	64	0	0	0	0.00308	0	7	64		
DEF6	50619	broad.mit.edu	37	6	35265694	35265694	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:35265694G>C	ENST00000316637.5	+	1	66	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	21						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCTGGACGTGGAGAAGAGTGG	0.672																																						uc003okk.2		NaN																	0					0						c.(61-63)GAG>CAG		differentially expressed in FDCP 6 homolog							41.0	39.0	40.0					6																	35265694		2202	4300	6502	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35265694G>C	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.61G>C	6.37:g.35265694G>C	ENSP00000319831:p.Glu21Gln					DEF6_uc010jvs.2_Missense_Mutation_p.E21Q|DEF6_uc010jvt.2_5'UTR	p.E21Q	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			1	100	+			21					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.61G>C	CCDS4802.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519569	0.96416	.	.	ENSG00000023892	ENST00000394658;ENST00000316637	D	0.86164	-2.08	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.92951	0.7757	M	0.76838	2.35	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.75484	0.986;0.906	D	0.93288	0.6666	10	0.72032	D	0.01	-31.2646	19.2768	0.94034	0.0:0.0:1.0:0.0	.	21;21	B2RBP7;Q9H4E7	.;DEFI6_HUMAN	Q	21	ENSP00000319831:E21Q	ENSP00000319831:E21Q	E	+	1	0	DEF6	35373672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.731000	0.98807	2.550000	0.86006	0.467000	0.42956	GAG		0.672	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1		NM_022047		8	37	0	0	0	0.004482	0	8	37		
TULP1	7287	broad.mit.edu	37	6	35471540	35471540	+	Missense_Mutation	SNP	G	G	A	rs387906836		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:35471540G>A	ENST00000229771.6	-	12	1277	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	TULP1_ENST00000322263.4_Missense_Mutation_p.R347W	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	400			R -> W (in LCA15). {ECO:0000269|PubMed:15024725}.		dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGCTCCTGCCGAAGGCTTGCC	0.597																																					GBM(55;1027 1091 11115 23439)	uc003okv.3		NaN																	0				ovary(2)|central_nervous_system(1)	3	GRCh37	CM040811	TULP1	M		c.(1198-1200)CGG>TGG		tubby like protein 1							55.0	49.0	51.0					6																	35471540		2203	4300	6503	SO:0001583	missense	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35471540G>A	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1198C>T	6.37:g.35471540G>A	ENSP00000229771:p.Arg400Trp					TULP1_uc003okw.3_Missense_Mutation_p.R347W	p.R400W	NM_003322	NP_003313	O00294	TULP1_HUMAN			12	1210	-			400		R -> W (in LCA15).			O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	ENST00000229771.6	37	c.1198C>T	CCDS4807.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002115	0.93227	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.86297	-2.1;-2.1	4.84	4.84	0.62591	Tubby, C-terminal (4);	0.070534	0.64402	D	0.000015	D	0.95475	0.8530	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97095	0.9793	10	0.87932	D	0	-20.8223	17.9504	0.89051	0.0:0.0:1.0:0.0	.	347;400	O00294-2;O00294	.;TULP1_HUMAN	W	400;347	ENSP00000229771:R400W;ENSP00000319414:R347W	ENSP00000229771:R400W	R	-	1	2	TULP1	35579518	1.000000	0.71417	0.998000	0.56505	0.899000	0.52679	7.728000	0.84847	2.215000	0.71742	0.491000	0.48974	CGG		0.597	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2				21	7	0	0	0	0.014323	0	21	7		
PNPLA1	285848	broad.mit.edu	37	6	36259282	36259282	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:36259282G>A	ENST00000394571.2	+	2	391	c.391G>A	c.(391-393)Gag>Aag	p.E131K	PNPLA1_ENST00000312917.5_Missense_Mutation_p.E36K|PNPLA1_ENST00000388715.3_Missense_Mutation_p.E36K	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	131	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AACGGACGGGGAGAATGTGGT	0.637																																						uc010jwf.2		NaN																	0				large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(391-393)GAG>AAG		patatin-like phospholipase domain containing 1							61.0	54.0	56.0					6																	36259282		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36259282G>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.391G>A	6.37:g.36259282G>A	ENSP00000378072:p.Glu131Lys					PNPLA1_uc003olw.1_Missense_Mutation_p.E36K|PNPLA1_uc010jwe.1_Missense_Mutation_p.E36K	p.E131K	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			2	391	+			131			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.391G>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366460	0.41902	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.24	5.24	0.73138	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.078423	0.48286	D	0.000181	T	0.63379	0.2506	N	0.04746	-0.17	0.42444	D	0.99272	P;P	0.46859	0.714;0.885	B;P	0.52454	0.178;0.699	T	0.75411	-0.3327	10	0.87932	D	0	-26.1985	16.3104	0.82865	0.0:0.0:1.0:0.0	.	131;36	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	K	36;36;131;131	ENSP00000373367:E36K;ENSP00000321116:E36K;ENSP00000391868:E131K;ENSP00000378072:E131K	ENSP00000321116:E36K	E	+	1	0	PNPLA1	36367260	0.993000	0.37304	0.955000	0.39395	0.513000	0.34164	2.206000	0.42779	2.444000	0.82710	0.467000	0.42956	GAG		0.637	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_173676		5	34	0	0	0	0.014758	0	5	34		
CCDC167	154467	broad.mit.edu	37	6	37451064	37451064	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:37451064C>T	ENST00000373408.3	-	4	250	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_138493.2	NP_612502.1	Q9P0B6	CC167_HUMAN	coiled-coil domain containing 167	64						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						TCAGTTCCTTCTCTGGGAGGA	0.532																																						uc003ont.2		NaN																	0					0						c.(190-192)GAG>GAA		hypothetical protein LOC154467							157.0	132.0	141.0					6																	37451064		2203	4300	6503	SO:0001630	splice_region_variant	154467					integral to membrane		g.chr6:37451064C>T		CCDS34441.1	6p21.2	2011-07-04	2011-07-04	2011-07-04	ENSG00000198937	ENSG00000198937			21239	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 129"""	C6orf129			Standard	NM_138493		Approved	dJ153P14.2	uc003ont.3	Q9P0B6	OTTHUMG00000014625	ENST00000373408.3:c.191-1G>A	6.37:g.37451064C>T							p.E64E	NM_138493	NP_612502	Q9P0B6	CF129_HUMAN			4	253	-			64			Potential.		Q5T7F7|Q9BTQ9	Silent	SNP	ENST00000373408.3	37	c.192G>A	CCDS34441.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265755	0.40095	.	.	ENSG00000198937	ENST00000373405;ENST00000411755	.	.	.	5.25	1.26	0.21427	.	1.846280	0.02210	N	0.063044	T	0.19248	0.0462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27088	-1.0084	6	0.10902	T	0.67	-4.8616	8.4282	0.32742	0.0:0.6377:0.0:0.3623	.	.	.	.	K	47	.	ENSP00000362504:E47K	E	-	1	0	CCDC167	37559042	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	0.965000	0.29319	0.387000	0.25024	-0.291000	0.09656	GAA		0.532	CCDC167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040417.1		NM_138493	Silent	6	74	0	0	0	0.001168	0	6	74		
UNC5CL	222643	broad.mit.edu	37	6	41002620	41002620	+	Nonsense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:41002620G>C	ENST00000373164.1	-	1	254	c.194C>G	c.(193-195)tCa>tGa	p.S65*	UNC5CL_ENST00000244565.3_Nonsense_Mutation_p.S65*|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	65					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGCTGCCTTGAGACCTCATT	0.587																																						uc003opi.2		NaN																	0				ovary(2)	2						c.(193-195)TCA>TGA		unc-5 homolog C-like							163.0	143.0	149.0					6																	41002620		2203	4300	6503	SO:0001587	stop_gained	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:41002620G>C	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.194C>G	6.37:g.41002620G>C	ENSP00000362258:p.Ser65*					UNC5CL_uc010jxe.1_Nonsense_Mutation_p.S65*	p.S65*	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN			2	283	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		65			Cytoplasmic (Potential).		Q5TGU1	Nonsense_Mutation	SNP	ENST00000373164.1	37	c.194C>G	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895493	0.33442	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	.	.	.	4.66	3.76	0.43208	.	0.557699	0.16358	N	0.217889	.	.	.	.	.	.	0.19945	N	0.999944	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.3324	10.4811	0.44693	0.0:0.1969:0.8031:0.0	.	.	.	.	X	65	.	ENSP00000244565:S65X	S	-	2	0	UNC5CL	41110598	0.058000	0.20735	0.002000	0.10522	0.036000	0.12997	3.052000	0.49893	1.150000	0.42419	0.563000	0.77884	TCA		0.587	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1		NM_173561		24	131	0	0	0	0.01892	0	24	131		
CNPY3	10695	broad.mit.edu	37	6	42902239	42902239	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:42902239A>C	ENST00000372836.4	+	2	549	c.178A>C	c.(178-180)Aag>Cag	p.K60Q	CNPY3_ENST00000394142.3_Intron	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	60	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGTGGAGCTGAAGTCAGCCTT	0.537																																						uc003ota.3		NaN																	0				ovary(1)	1						c.(178-180)AAG>CAG		trinucleotide repeat containing 5 precursor							111.0	88.0	96.0					6																	42902239		2203	4300	6503	SO:0001583	missense	10695				innate immune response	endoplasmic reticulum		g.chr6:42902239A>C	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.178A>C	6.37:g.42902239A>C	ENSP00000361926:p.Lys60Gln					CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_Missense_Mutation_p.K60Q|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_Intron	p.K60Q	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	627	+	Colorectal(47;0.196)		60			Saposin B-type.		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Missense_Mutation	SNP	ENST00000372836.4	37	c.178A>C	CCDS4875.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279453	0.59758	.	.	ENSG00000137161	ENST00000372836	T	0.35789	1.29	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.37466	1.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.08638	-1.0712	10	0.23302	T	0.38	-30.3127	12.4059	0.55439	1.0:0.0:0.0:0.0	.	60	Q9BT09	CNPY3_HUMAN	Q	60	ENSP00000361926:K60Q	ENSP00000361926:K60Q	K	+	1	0	CNPY3	43010217	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.295000	0.89937	1.758000	0.51981	0.533000	0.62120	AAG		0.537	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1		NM_006586		19	53	0	0	0	0.006122	0	19	53		
CUL7	9820	broad.mit.edu	37	6	43006375	43006375	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:43006375T>C	ENST00000265348.3	-	24	4581	c.4496A>G	c.(4495-4497)aAt>aGt	p.N1499S	CUL7_ENST00000535468.1_Missense_Mutation_p.N1583S|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7	1499					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AATCGCCTGATTGAGCATGTC	0.587																																						uc003otq.2		NaN																	0				ovary(3)|kidney(1)	4						c.(4495-4497)AAT>AGT		cullin 7							65.0	70.0	68.0					6																	43006375		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43006375T>C	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4496A>G	6.37:g.43006375T>C	ENSP00000265348:p.Asn1499Ser					CUL7_uc010jyg.2_Missense_Mutation_p.N778S|CUL7_uc011dvb.1_Missense_Mutation_p.N1583S|CUL7_uc010jyh.2_Missense_Mutation_p.N492S|KLC4_uc003otr.1_5'Flank	p.N1499S	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		24	4799	-			1499					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.4496A>G	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	T	4.398	0.073499	0.08485	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.73363	-0.74;-0.74	4.77	3.54	0.40534	Cullin, N-terminal (1);Cullin homology (2);	0.696409	0.15037	N	0.284125	T	0.42517	0.1206	L	0.40543	1.245	0.09310	N	0.999993	B;B;B;B	0.33777	0.152;0.285;0.425;0.101	B;B;B;B	0.31946	0.085;0.096;0.138;0.089	T	0.15407	-1.0438	10	0.14656	T	0.56	-3.9318	9.0191	0.36188	0.1629:0.0:0.0:0.8371	.	1583;1499;1583;1499	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	S	1499;1583	ENSP00000265348:N1499S;ENSP00000438788:N1583S	ENSP00000265348:N1499S	N	-	2	0	CUL7	43114353	0.037000	0.19845	0.021000	0.16686	0.047000	0.14425	1.483000	0.35497	2.003000	0.58678	0.533000	0.62120	AAT		0.587	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1		NM_014780		26	89	0	0	0	0.004656	0	26	89		
COL21A1	81578	broad.mit.edu	37	6	56044893	56044893	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:56044893G>C	ENST00000244728.5	-	3	520	c.123C>G	c.(121-123)atC>atG	p.I41M	COL21A1_ENST00000370819.1_Missense_Mutation_p.I41M|COL21A1_ENST00000535941.1_Missense_Mutation_p.I41M	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	41	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGCCATCTAAGATGAAAACTA	0.348																																						uc003pcs.2		NaN																	0				ovary(2)	2						c.(121-123)ATC>ATG		collagen, type XXI, alpha 1 precursor							32.0	29.0	30.0					6																	56044893		1830	4084	5914	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044893G>C	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.123C>G	6.37:g.56044893G>C	ENSP00000244728:p.Ile41Met					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.I41M|COL21A1_uc003pcu.1_Missense_Mutation_p.I41M	p.I41M	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	355	-	Lung NSC(77;0.0483)		41			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.123C>G	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715086	0.30413	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370817	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.75	3.87	0.44632	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000033	D	0.83557	0.5280	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.99	T	0.82855	-0.0251	10	0.40728	T	0.16	.	7.846	0.29426	0.0763:0.0:0.6399:0.2837	.	41;41	Q96P44-3;Q96P44	.;COLA1_HUMAN	M	41	ENSP00000244728:I41M;ENSP00000359855:I41M;ENSP00000444384:I41M;ENSP00000359853:I41M	ENSP00000244728:I41M	I	-	3	3	COL21A1	56152852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.767000	0.26575	1.094000	0.41399	0.650000	0.86243	ATC		0.348	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2				6	9	0	0	0	0.001984	0	6	9		
RIMS1	22999	broad.mit.edu	37	6	72678707	72678707	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:72678707G>A	ENST00000521978.1	+	2	186	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RIMS1_ENST00000491071.2_Silent_p.A62A|RIMS1_ENST00000348717.5_Silent_p.A62A|RIMS1_ENST00000517960.1_Silent_p.A62A|RIMS1_ENST00000518273.1_Silent_p.A62A|RIMS1_ENST00000520567.1_Silent_p.A62A|RIMS1_ENST00000522291.1_Silent_p.A62A|RIMS1_ENST00000264839.7_Silent_p.A62A	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	62	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACATGGCGAAGCCTGCTG	0.453																																						uc003pga.2		NaN																	0				ovary(7)|pancreas(2)|breast(1)	10						c.(184-186)GCG>GCA		regulating synaptic membrane exocytosis 1							128.0	132.0	130.0					6																	72678707		1932	4130	6062	SO:0001819	synonymous_variant	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72678707G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.186G>A	6.37:g.72678707G>A							p.A62A	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			2	263	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	62			RabBD.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	ENST00000521978.1	37	c.186G>A	CCDS47449.1																																																																																				0.453	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1				46	43	0	0	0	0.01441	0	46	43		
GJB7	375519	broad.mit.edu	37	6	87994088	87994088	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:87994088G>A	ENST00000525899.1	-	3	888	c.543C>T	c.(541-543)ctC>ctT	p.L181L	GJB7_ENST00000296882.3_Silent_p.L181L	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	181					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TGACCAAGAAGAGGATGAAGA	0.398																																						uc003plo.2		NaN																	0					0						c.(541-543)CTC>CTT		gap junction protein, beta 7, 25kDa							112.0	107.0	109.0					6																	87994088		2203	4300	6503	SO:0001819	synonymous_variant	375519				cell communication	connexon complex|integral to membrane		g.chr6:87994088G>A	AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"""Ion channels / Gap junction proteins (connexins)"""	16690	protein-coding gene	gene with protein product	"""connexin 25"""	611921	"""gap junction protein, beta 7"""				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.543C>T	6.37:g.87994088G>A							p.L181L	NM_198568	NP_940970	Q6PEY0	CXB7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0167)	3	889	-		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)	181			Helical; (Potential).		B3KXL0|Q96KP0	Silent	SNP	ENST00000525899.1	37	c.543C>T	CCDS5008.1																																																																																				0.398	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1				12	30	0	0	0	0.010729	0	12	30		
EPHA7	2045	broad.mit.edu	37	6	93965737	93965737	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:93965737T>C	ENST00000369303.4	-	13	2375	c.2191A>G	c.(2191-2193)Aca>Gca	p.T731A		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	731	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		TGAATGACTGTAAATTGCCCA	0.398																																						uc003poe.2		NaN																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2191-2193)ACA>GCA		ephrin receptor EphA7 precursor							116.0	110.0	112.0					6																	93965737		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93965737T>C	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.2191A>G	6.37:g.93965737T>C	ENSP00000358309:p.Thr731Ala					EPHA7_uc003pof.2_Missense_Mutation_p.T726A|EPHA7_uc011eac.1_Missense_Mutation_p.T727A	p.T731A	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	13	2432	-		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)	731			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2191A>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.443872	0.63067	.	.	ENSG00000135333	ENST00000369303	T	0.63255	-0.03	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41627	0.1167	L	0.39326	1.205	0.80722	D	1	P;B;B	0.36959	0.575;0.007;0.008	B;B;B	0.31812	0.136;0.006;0.011	T	0.54296	-0.8315	10	0.87932	D	0	.	16.0455	0.80717	0.0:0.0:0.0:1.0	.	727;726;731	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	A	731	ENSP00000358309:T731A	ENSP00000358309:T731A	T	-	1	0	EPHA7	94022458	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.189000	0.69895	0.460000	0.39030	ACA		0.398	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1				3	21	0	0	0	0.009096	0	3	21		
MTFR2	113115	broad.mit.edu	37	6	136564027	136564027	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:136564027C>G	ENST00000420702.1	-	4	642	c.253G>C	c.(253-255)Gat>Cat	p.D85H	MTFR2_ENST00000451457.2_Missense_Mutation_p.D85H	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	85					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											GCTTCTTCATCATTTGCCACA	0.358																																						uc010kgp.1		NaN																	0				skin(1)	1						c.(253-255)GAT>CAT		DUF729 domain containing 1							99.0	96.0	97.0					6																	136564027		2203	4300	6503	SO:0001583	missense	113115							g.chr6:136564027C>G	BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.253G>C	6.37:g.136564027C>G	ENSP00000395232:p.Asp85His					FAM54A_uc003qgt.1_Missense_Mutation_p.D85H|FAM54A_uc003qgu.1_Missense_Mutation_p.D42H	p.D85H	NM_001099286	NP_001092756	Q6P444	FA54A_HUMAN		GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)	4	643	-	Colorectal(23;0.24)		85					A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	ENST00000420702.1	37	c.253G>C	CCDS5176.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402034	0.83120	.	.	ENSG00000146410	ENST00000451457;ENST00000420702;ENST00000418509	T;T;T	0.60171	0.21;0.21;0.21	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	M	0.83774	2.66	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.78497	-0.2181	10	0.87932	D	0	-33.3623	18.9094	0.92477	0.0:1.0:0.0:0.0	.	85	Q6P444	FA54A_HUMAN	H	85;85;42	ENSP00000407010:D85H;ENSP00000395232:D85H;ENSP00000410861:D42H	ENSP00000410861:D42H	D	-	1	0	FAM54A	136605720	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.083000	0.64456	2.779000	0.95612	0.655000	0.94253	GAT		0.358	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042378.2		NM_138419		3	78	0	0	0	0.004672	0	3	78		
STXBP5	134957	broad.mit.edu	37	6	147648324	147648324	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:147648324C>G	ENST00000321680.6	+	18	1992	c.1992C>G	c.(1990-1992)ctC>ctG	p.L664L	STXBP5_ENST00000367480.3_Silent_p.L664L|STXBP5_ENST00000179882.6_Silent_p.L335L|STXBP5_ENST00000367481.3_Silent_p.L664L	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	664					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CAGTGCTGCTCAACCTGGGCA	0.428																																						uc003qlz.2		NaN																	0					0						c.(1990-1992)CTC>CTG		syntaxin binding protein 5 (tomosyn) isoform b							137.0	129.0	132.0					6																	147648324		2203	4300	6503	SO:0001819	synonymous_variant	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147648324C>G	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1992C>G	6.37:g.147648324C>G						STXBP5_uc010khz.1_Silent_p.L664L|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.L335L|STXBP5_uc003qma.2_Silent_p.L11L	p.L664L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	18	2153	+		Ovarian(120;0.0164)	664			WD 10.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	ENST00000321680.6	37	c.1992C>G	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020154	0.19433	.	.	ENSG00000164506	ENST00000367475	.	.	.	6.07	1.31	0.21738	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19289	-1.0310	4	.	.	.	.	1.0565	0.01591	0.1508:0.346:0.1819:0.3213	.	.	.	.	E	6	.	.	Q	+	1	0	STXBP5	147690017	0.994000	0.37717	0.995000	0.50966	0.988000	0.76386	0.268000	0.18571	0.172000	0.19760	-0.482000	0.04802	CAA		0.428	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1				24	48	0	0	0	0.021523	0	24	48		
EZR	7430	broad.mit.edu	37	6	159206483	159206483	+	Missense_Mutation	SNP	C	C	G	rs371263455		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:159206483C>G	ENST00000367075.3	-	5	493	c.325G>C	c.(325-327)Gga>Cga	p.G109R	EZR_ENST00000392177.4_Missense_Mutation_p.G77R|EZR_ENST00000337147.7_Missense_Mutation_p.G109R|EZR_ENST00000476189.1_5'UTR	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	109	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTAAGGATTCCTTCCTTCACT	0.532			T	ROS1	NSCLC																																	uc003qrt.3		NaN		Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.(325-327)GGA>CGA		ezrin							112.0	87.0	96.0					6																	159206483		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159206483C>G	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.325G>C	6.37:g.159206483C>G	ENSP00000356042:p.Gly109Arg					EZR_uc011efs.1_Missense_Mutation_p.G77R|EZR_uc003qru.3_Missense_Mutation_p.G109R	p.G109R	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	4	540	-		Breast(66;0.000776)|Ovarian(120;0.0303)	109			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.325G>C	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624609	0.46840	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.82711	-1.64;-1.64;-1.64	4.34	4.34	0.51931	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.218939	0.48286	D	0.000191	D	0.88422	0.6432	M	0.68317	2.08	0.40857	D	0.983806	P;D	0.76494	0.936;0.999	P;D	0.77004	0.777;0.989	D	0.90079	0.4169	10	0.87932	D	0	.	17.0524	0.86523	0.0:1.0:0.0:0.0	.	77;109	E7EQR4;P15311	.;EZRI_HUMAN	R	109;109;77	ENSP00000338934:G109R;ENSP00000356042:G109R;ENSP00000376016:G77R	ENSP00000338934:G109R	G	-	1	0	EZR	159126471	0.992000	0.36948	0.047000	0.18901	0.311000	0.27955	4.458000	0.60095	2.248000	0.74166	0.650000	0.86243	GGA		0.532	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1		NM_003379		6	51	0	0	0	0.001984	0	6	51		
PNLDC1	154197	broad.mit.edu	37	6	160237614	160237614	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:160237614T>G	ENST00000610273.1	+	14	1238	c.1067T>G	c.(1066-1068)tTc>tGc	p.F356C	PNLDC1_ENST00000392167.3_Missense_Mutation_p.F367C	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	356						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TATGATGCCTTCCTCTGTGGG	0.478																																						uc003qsx.1		NaN																	0					0						c.(1066-1068)TTC>TGC		poly(A)-specific ribonuclease (PARN)-like domain							137.0	133.0	135.0					6																	160237614		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160237614T>G	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1067T>G	6.37:g.160237614T>G	ENSP00000476448:p.Phe356Cys					PNLDC1_uc003qsy.1_Missense_Mutation_p.F367C	p.F356C	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	14	1238	+		Breast(66;0.00519)|Ovarian(120;0.123)	356			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1067T>G	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119046	0.56505	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.25250	1.81;1.81	5.61	5.61	0.85477	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000002	T	0.42131	0.1189	M	0.69823	2.125	0.45515	D	0.998476	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.44003	-0.9356	10	0.87932	D	0	.	14.3609	0.66771	0.0:0.0:0.0:1.0	.	367;356	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	C	356;367	ENSP00000275275:F356C;ENSP00000376007:F367C	ENSP00000275275:F356C	F	+	2	0	PNLDC1	160157604	1.000000	0.71417	0.999000	0.59377	0.451000	0.32288	4.771000	0.62318	2.138000	0.66242	0.454000	0.30748	TTC		0.478	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_173516		25	76	0	0	0	0.008361	0	25	76		
LPA	4018	broad.mit.edu	37	6	160999635	160999635	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr6:160999635C>T	ENST00000316300.5	-	27	4435	c.4391G>A	c.(4390-4392)cGa>cAa	p.R1464Q	LPA_ENST00000447678.1_Missense_Mutation_p.R1464Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CACTGGACATCGTGTCAGGTT	0.527																																						uc003qtl.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(4390-4392)CGA>CAA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						150.0	159.0	156.0					6																	160999635		2163	4290	6453	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999635C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4391G>A	6.37:g.160999635C>T	ENSP00000321334:p.Arg1464Gln						p.R1464Q	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4511	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3972			Kringle 35.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4391G>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	0.548	-0.850719	0.02651	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.66280	-0.2;-0.2	2.37	-2.12	0.07165	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.13927	0.0337	N	0.20574	0.59	0.09310	N	1	P	0.36010	0.532	B	0.33890	0.172	T	0.33929	-0.9849	9	0.02654	T	1	.	8.2452	0.31684	0.0:0.5209:0.0:0.4791	.	3972	P08519	APOA_HUMAN	Q	1464	ENSP00000321334:R1464Q;ENSP00000395608:R1464Q	ENSP00000321334:R1464Q	R	-	2	0	LPA	160919625	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	-0.521000	0.06245	-1.289000	0.02375	-1.615000	0.00797	CGA		0.527	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577		21	43	0	0	0	0.010504	0	21	43		
SDK1	221935	broad.mit.edu	37	7	4107520	4107520	+	Missense_Mutation	SNP	C	C	G	rs142269128	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:4107520C>G	ENST00000404826.2	+	20	3101	c.2962C>G	c.(2962-2964)Ctc>Gtc	p.L988V	SDK1_ENST00000389531.3_Missense_Mutation_p.L988V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	988	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGACACATCTCTCAAGGTCAG	0.423																																						uc003smx.2		NaN																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(2962-2964)CTC>GTC		sidekick 1 precursor		C	VAL/LEU	0,4406		0,0,2203	68.0	66.0	67.0		2962	4.5	1.0	7	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SDK1	NM_152744.3	32	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	988/2214	4107520	1,13005	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4107520C>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2962C>G	7.37:g.4107520C>G	ENSP00000385899:p.Leu988Val					SDK1_uc010kso.2_Missense_Mutation_p.L264V	p.L988V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	20	3101	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	988			Fibronectin type-III 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2962C>G	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473313	0.43942	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.59224	0.28;0.28	4.54	4.54	0.55810	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.52468	0.1736	N	0.17922	0.545	0.58432	D	0.999998	B;B	0.27498	0.18;0.07	B;B	0.42163	0.378;0.248	T	0.48570	-0.9024	10	0.20046	T	0.44	.	17.2927	0.87162	0.0:1.0:0.0:0.0	.	988;988	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	V	988	ENSP00000385899:L988V;ENSP00000374182:L988V	ENSP00000374182:L988V	L	+	1	0	SDK1	4074046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.996000	0.70639	2.058000	0.61347	0.655000	0.94253	CTC		0.423	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744		5	35	0	0	0	0.014758	0	5	35		
CYTH3	9265	broad.mit.edu	37	7	6227347	6227347	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:6227347C>T	ENST00000350796.3	-	3	259	c.123G>A	c.(121-123)ctG>ctA	p.L41L		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	41					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TTTCATATTTCAGCCTCTGTC	0.418																																						uc003spt.2		NaN																	0					0						c.(121-123)CTG>CTA		cytohesin 3							149.0	137.0	141.0					7																	6227347		2203	4300	6503	SO:0001819	synonymous_variant	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6227347C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.123G>A	7.37:g.6227347C>T							p.L41L	NM_004227	NP_004218	O43739	CYH3_HUMAN			3	227	-			41			Potential.		A4D2N8	Silent	SNP	ENST00000350796.3	37	c.123G>A	CCDS5346.1																																																																																				0.418	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2		NM_004227		21	87	0	0	0	0.012319	0	21	87		
CYTH3	9265	broad.mit.edu	37	7	6227353	6227353	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:6227353C>T	ENST00000350796.3	-	3	254		c.e3-1			NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ATTTCAGCCTCTGTCAAAAAA	0.433																																						uc003spt.2		NaN																	0					0						c.e3-1		cytohesin 3							139.0	129.0	132.0					7																	6227353		2203	4300	6503	SO:0001630	splice_region_variant	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6227353C>T	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.118-1G>A	7.37:g.6227353C>T							p.R40_splice	NM_004227	NP_004218	O43739	CYH3_HUMAN			3	222	-								A4D2N8	Splice_Site	SNP	ENST00000350796.3	37	c.118_splice	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946196	0.92593	.	.	ENSG00000008256	ENST00000350796	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7183	0.91684	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CYTH3	6193878	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.411000	0.80078	2.714000	0.92807	0.650000	0.86243	.		0.433	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2		NM_004227	Intron	20	79	0	0	0	0.008871	0	20	79		
FAM126A	84668	broad.mit.edu	37	7	23030703	23030703	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:23030703C>T	ENST00000432176.2	-	2	260	c.28G>A	c.(28-30)Gag>Aag	p.E10K	FAM126A_ENST00000409763.1_Missense_Mutation_p.E10K|FAM126A_ENST00000409923.1_Missense_Mutation_p.E10K	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	10					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.E10Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						AACCATTCCTCCACAACCCCT	0.303																																						uc003svm.3		NaN																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(28-30)GAG>AAG		family with sequence similarity 126, member A							113.0	114.0	114.0					7																	23030703		2203	4293	6496	SO:0001583	missense	84668					cytoplasm|membrane	signal transducer activity	g.chr7:23030703C>T	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.28G>A	7.37:g.23030703C>T	ENSP00000403396:p.Glu10Lys					FAM126A_uc003svn.3_Intron|FAM126A_uc011jyr.1_Missense_Mutation_p.E10K	p.E10K	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			2	283	-			10					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	c.28G>A	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127792	0.77549	.	.	ENSG00000122591	ENST00000432176;ENST00000409923;ENST00000409763	T;T;T	0.77489	-1.1;-1.08;-1.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.85596	0.1249	10	0.44086	T	0.13	-2.9851	19.0305	0.92955	0.0:1.0:0.0:0.0	.	10	Q9BYI3	HYCCI_HUMAN	K	10	ENSP00000403396:E10K;ENSP00000386246:E10K;ENSP00000386624:E10K	ENSP00000386624:E10K	E	-	1	0	FAM126A	22997228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.661000	0.68025	2.861000	0.98227	0.655000	0.94253	GAG		0.303	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1		NM_032581		9	32	0	0	0	0.010729	0	9	32		
CREB5	9586	broad.mit.edu	37	7	28858828	28858828	+	Nonsense_Mutation	SNP	G	G	T	rs200048042		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:28858828G>T	ENST00000357727.2	+	11	1849	c.1459G>T	c.(1459-1461)Gag>Tag	p.E487*	CREB5_ENST00000396300.2_Nonsense_Mutation_p.E480*|CREB5_ENST00000396299.2_Nonsense_Mutation_p.E454*|CREB5_ENST00000396298.2_Nonsense_Mutation_p.E348*|CREB5_ENST00000409603.1_Nonsense_Mutation_p.E454*	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	487					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATCGGTCAGCGAGGTGGTAGG	0.532																																						uc003szq.2		NaN																	0				skin(2)	2						c.(1459-1461)GAG>TAG		cAMP responsive element binding protein 5							193.0	185.0	188.0					7																	28858828		2203	4300	6503	SO:0001587	stop_gained	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28858828G>T	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.1459G>T	7.37:g.28858828G>T	ENSP00000350359:p.Glu487*					CREB5_uc003szo.2_Nonsense_Mutation_p.E454*|CREB5_uc003szr.2_Nonsense_Mutation_p.E480*|CREB5_uc003szs.2_Nonsense_Mutation_p.E348*	p.E487*	NM_182898	NP_878901	Q02930	CREB5_HUMAN			11	1849	+			487					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Nonsense_Mutation	SNP	ENST00000357727.2	37	c.1459G>T	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	37	6.306471	0.97458	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000396298	.	.	.	5.58	5.58	0.84498	.	0.203166	0.45361	D	0.000364	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.6145	19.5909	0.95509	0.0:0.0:1.0:0.0	.	.	.	.	X	454;487;480;454;348	.	ENSP00000350359:E487X	E	+	1	0	CREB5	28825353	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.599000	0.74127	2.633000	0.89246	0.650000	0.86243	GAG		0.532	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4		NM_004904		28	107	1	0	1.75199e-13	0.007291	2.39776e-13	28	107		
GLI3	2737	broad.mit.edu	37	7	42005202	42005202	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:42005202C>T	ENST00000395925.3	-	15	3553	c.3469G>A	c.(3469-3471)Gac>Aac	p.D1157N	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1157					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATGGGCAGGTCGGTTTTGCTG	0.692									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NaN																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3469-3471)GAC>AAC		GLI-Kruppel family member GLI3							86.0	101.0	96.0					7																	42005202		2201	4295	6496	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005202C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3469G>A	7.37:g.42005202C>T	ENSP00000379258:p.Asp1157Asn					GLI3_uc011kbg.1_Missense_Mutation_p.D1098N	p.D1157N	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3560	-			1157					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3469G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	6.894	0.534387	0.13188	.	.	ENSG00000106571	ENST00000395925	T	0.12147	2.71	5.67	4.79	0.61399	.	0.379864	0.34828	N	0.003654	T	0.06690	0.0171	N	0.12887	0.27	0.80722	D	1	B	0.24675	0.109	B	0.12837	0.008	T	0.10894	-1.0610	10	0.02654	T	1	.	14.045	0.64700	0.0:0.928:0.0:0.072	.	1157	P10071	GLI3_HUMAN	N	1157	ENSP00000379258:D1157N	ENSP00000379258:D1157N	D	-	1	0	GLI3	41971727	0.995000	0.38212	0.957000	0.39632	0.839000	0.47603	3.044000	0.49830	2.667000	0.90743	0.563000	0.77884	GAC		0.692	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168		55	245	0	0	0	0.01441	0	55	245		
ZNF117	51351	broad.mit.edu	37	7	64439571	64439571	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:64439571T>A	ENST00000282869.6	-	4	1662	c.378A>T	c.(376-378)caA>caT	p.Q126H		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	126					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TTCTTTTATGTTGAGTTAGGT	0.308																																						uc003ttr.2		NaN																	0				skin(1)	1						c.(376-378)CAA>CAT		zinc finger protein 117							70.0	69.0	69.0					7																	64439571		2107	4246	6353	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64439571T>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.378A>T	7.37:g.64439571T>A	ENSP00000282869:p.Gln126His						p.Q126H	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	1663	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	126			C2H2-type 1; degenerate.		Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.378A>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	9.426	1.084396	0.20309	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.01034	5.42	1.3	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02012	0.0063	L	0.41027	1.25	0.09310	N	1	D	0.69078	0.997	D	0.67900	0.954	T	0.37686	-0.9695	9	0.87932	D	0	.	3.9069	0.09186	0.0:0.1827:0.2723:0.5449	.	126	Q03924	ZN117_HUMAN	H	126	ENSP00000282869:Q126H	ENSP00000282869:Q126H	Q	-	3	2	ZNF117	64077006	.	.	0.000000	0.03702	0.006000	0.05464	.	.	-1.342000	0.02222	-0.736000	0.03550	CAA		0.308	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3		NM_024498		6	15	0	0	0	0.001168	0	6	15		
TMEM248	55069	broad.mit.edu	37	7	66409968	66409968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:66409968G>A	ENST00000341567.4	+	3	420	c.165G>A	c.(163-165)tgG>tgA	p.W55*		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	55						integral component of membrane (GO:0016021)											CAAAGGATTGGAATACTTTTC	0.473																																						uc003tvk.2		NaN																	0				ovary(1)	1						c.(163-165)TGG>TGA		hypothetical protein LOC55069							83.0	72.0	76.0					7																	66409968		2203	4300	6503	SO:0001587	stop_gained	55069					integral to membrane		g.chr7:66409968G>A		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.165G>A	7.37:g.66409968G>A	ENSP00000340668:p.Trp55*					C7orf42_uc010lah.2_RNA|C7orf42_uc003tvl.2_Nonsense_Mutation_p.W55*	p.W55*	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN			3	429	+			55					Q53H07|Q96FR2	Nonsense_Mutation	SNP	ENST00000341567.4	37	c.165G>A	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884498	0.97062	.	.	ENSG00000106609	ENST00000341567;ENST00000413593;ENST00000424964;ENST00000418375	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8932	18.2626	0.90041	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000340668:W55X	W	+	3	0	C7orf42	66047403	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.324000	0.96373	2.569000	0.86673	0.561000	0.74099	TGG		0.473	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2		NM_017994		9	71	0	0	0	0.008291	0	9	71		
WBSCR17	64409	broad.mit.edu	37	7	70886021	70886021	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:70886021G>A	ENST00000333538.5	+	5	1526	c.892G>A	c.(892-894)Gag>Aag	p.E298K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	298					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTACAGCTGGGAGCTGTGGTG	0.597																																						uc003tvy.2		NaN																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(892-894)GAG>AAG		UDP-GalNAc:polypeptide							105.0	98.0	100.0					7																	70886021		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70886021G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.892G>A	7.37:g.70886021G>A	ENSP00000329654:p.Glu298Lys					WBSCR17_uc003tvz.2_5'UTR	p.E298K	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			5	892	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	298			Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.892G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635248	0.67130	.	.	ENSG00000185274	ENST00000333538	T	0.59638	0.25	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	L	0.34521	1.04	0.80722	D	1	D	0.55605	0.972	P	0.60609	0.877	T	0.52946	-0.8507	10	0.07482	T	0.82	.	18.0015	0.89199	0.0:0.0:1.0:0.0	.	298	Q6IS24	GLTL3_HUMAN	K	298	ENSP00000329654:E298K	ENSP00000329654:E298K	E	+	1	0	WBSCR17	70523957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.490000	0.84030	0.557000	0.71058	GAG		0.597	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1		NM_022479		52	83	0	0	0	0.01441	0	52	83		
POM121	9883	broad.mit.edu	37	7	72413873	72413873	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:72413873A>G	ENST00000434423.2	+	11	3341	c.3341A>G	c.(3340-3342)aAt>aGt	p.N1114S	POM121_ENST00000358357.3_Missense_Mutation_p.N849S|POM121_ENST00000446813.1_Missense_Mutation_p.N849S|POM121_ENST00000257622.4_Missense_Mutation_p.N849S|POM121_ENST00000395270.1_Missense_Mutation_p.N849S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1114	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTTGGGATCAATGTGGCCACC	0.637																																						uc003twk.2		NaN																	0					0						c.(3340-3342)AAT>AGT		nuclear pore membrane protein 121							28.0	22.0	24.0					7																	72413873		2165	4164	6329	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413873A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3341A>G	7.37:g.72413873A>G	ENSP00000405562:p.Asn1114Ser					POM121_uc003twj.2_Missense_Mutation_p.N849S|POM121_uc010lam.1_Missense_Mutation_p.N849S	p.N1114S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	3341	+		Lung NSC(55;0.163)	1114			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.3341A>G		.	.	.	.	.	.	.	.	.	.	A	0	-2.624132	0.00117	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.03745	3.83;3.82;3.83;3.82;4.04	3.01	0.143	0.14820	.	0.670578	0.12894	N	0.430373	T	0.01353	0.0044	N	0.03050	-0.425	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.47484	-0.9114	10	0.02654	T	1	.	7.2776	0.26294	0.182:0.0:0.818:0.0	.	849;1114	A8MXF9;Q96HA1	.;P121A_HUMAN	S	849;849;849;849;1114	ENSP00000393020:N849S;ENSP00000257622:N849S;ENSP00000378687:N849S;ENSP00000351124:N849S;ENSP00000405562:N1114S	ENSP00000257622:N849S	N	+	2	0	POM121	72051809	0.000000	0.05858	0.064000	0.19789	0.035000	0.12851	0.316000	0.19469	-0.147000	0.11254	0.321000	0.21382	AAT		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1				54	17	0	0	0	0.01441	0	54	17		
PHTF2	57157	broad.mit.edu	37	7	77549772	77549772	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:77549772G>C	ENST00000248550.7	+	9	1029	c.953G>C	c.(952-954)gGt>gCt	p.G318A	PHTF2_ENST00000275575.7_Missense_Mutation_p.G280A|PHTF2_ENST00000307305.8_Missense_Mutation_p.G280A|PHTF2_ENST00000422959.2_Missense_Mutation_p.G284A|PHTF2_ENST00000450574.1_Missense_Mutation_p.G284A|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000424760.1_Missense_Mutation_p.G280A|PHTF2_ENST00000415251.2_Missense_Mutation_p.G280A|PHTF2_ENST00000416283.2_Missense_Mutation_p.G284A			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CTGAGGAATGGTCCTAGCAAA	0.383																																						uc003ugs.3		NaN																	0				ovary(1)	1						c.(952-954)GGT>GCT		putative homeodomain transcription factor 2							89.0	90.0	90.0					7																	77549772		1884	4116	6000	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77549772G>C	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.953G>C	7.37:g.77549772G>C	ENSP00000248550:p.Gly318Ala					PHTF2_uc003ugo.3_Missense_Mutation_p.G280A|PHTF2_uc003ugp.2_Missense_Mutation_p.G280A|PHTF2_uc003ugq.3_Missense_Mutation_p.G280A|PHTF2_uc010ldv.2_Missense_Mutation_p.G280A|PHTF2_uc003ugr.3_Missense_Mutation_p.G284A|PHTF2_uc003ugt.3_Missense_Mutation_p.G284A|PHTF2_uc003ugu.3_Missense_Mutation_p.G280A|PHTF2_uc003ugv.2_Missense_Mutation_p.G143A|PHTF2_uc010ldw.1_Missense_Mutation_p.G143A	p.G318A	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			9	1079	+			318					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.953G>C		.	.	.	.	.	.	.	.	.	.	G	2.985	-0.209509	0.06140	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	6.16	1.15	0.20763	.	0.629097	0.17066	N	0.188369	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.27606	-1.0069	9	0.10111	T	0.7	0.3155	4.321	0.11016	0.0:0.3025:0.4253:0.2722	.	122;280;143;284;318;284;280;280;280	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;.;.;PHTF2_HUMAN;.;.;.;.	A	284;284;280;280;280;280;284;284;318	.	ENSP00000248550:G318A	G	+	2	0	PHTF2	77387708	0.004000	0.15560	0.003000	0.11579	0.191000	0.23601	0.084000	0.14891	0.199000	0.20427	-0.271000	0.10264	GGT		0.383	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2		NM_020432		35	23	0	0	0	0.021022	0	35	23		
CYP51A1	1595	broad.mit.edu	37	7	91763582	91763582	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:91763582A>C	ENST00000003100.8	-	1	262	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V	CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000422722.1_Intron|CYP51A1_ENST00000450723.1_Intron	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	27					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	AGCATGGACAAGAGGTTGCCG	0.687											OREG0018160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(70;1100 1190 11592 25836 51397)	uc003ulm.3		NaN																	0					0						c.(97-99)TTG>GTG		cytochrome P450, family 51, subfamily A,	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						31.0	31.0	31.0					7																	91763582		2201	4300	6501	SO:0001583	missense	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91763582A>C	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.97T>G	7.37:g.91763582A>C	ENSP00000003100:p.Leu33Val		OREG0018160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1285	CYP51A1_uc011khn.1_Intron|CYP51A1_uc003uln.3_Intron|uc003ulo.1_5'Flank	p.L33V	NM_000786	NP_000777	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		1	259	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		27			Helical; (Potential).		A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	ENST00000003100.8	37	c.97T>G	CCDS5623.1	.	.	.	.	.	.	.	.	.	.	A	3.826	-0.036676	0.07497	.	.	ENSG00000001630	ENST00000003100	T	0.70164	-0.46	4.61	-0.77	0.11005	.	0.441338	0.23354	N	0.049096	T	0.33294	0.0858	N	0.08118	0	0.19775	N	0.999957	B	0.02656	0.0	B	0.04013	0.001	T	0.08764	-1.0706	10	0.15066	T	0.55	.	1.6096	0.02691	0.1518:0.2484:0.3454:0.2544	.	27	Q16850	CP51A_HUMAN	V	33	ENSP00000003100:L33V	ENSP00000003100:L33V	L	-	1	2	CYP51A1	91601518	0.119000	0.22226	0.003000	0.11579	0.125000	0.20455	0.575000	0.23729	-0.238000	0.09724	-0.232000	0.12228	TTG		0.687	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4				8	39	0	0	0	0.00308	0	8	39		
CYP3A7	1551	broad.mit.edu	37	7	99319922	99319922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:99319922C>T	ENST00000336374.2	-	3	217	c.215G>A	c.(214-216)tGg>tAg	p.W72*		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	72					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TACTCACCCCCAGACTTTTCT	0.388																																						uc003uru.2		NaN																	0				ovary(1)	1						c.(214-216)TGG>TAG		cytochrome P450, family 3, subfamily A,							84.0	82.0	83.0					7																	99319922		2203	4300	6503	SO:0001587	stop_gained	1551				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99319922C>T	AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.215G>A	7.37:g.99319922C>T	ENSP00000337450:p.Trp72*					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.W72*	NM_000765	NP_000756	P24462	CP3A7_HUMAN			3	320	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		72					A4D288|Q9H241	Nonsense_Mutation	SNP	ENST00000336374.2	37	c.215G>A	CCDS5673.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442962	0.43326	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	.	.	.	4.1	4.1	0.47936	.	0.135302	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1704	0.65506	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000292414:W72X	W	-	2	0	CYP3A7	99157858	1.000000	0.71417	0.993000	0.49108	0.216000	0.24613	4.405000	0.59741	2.268000	0.75426	0.561000	0.74099	TGG		0.388	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345484.1				5	39	0	0	0	0.001168	0	5	39		
GATS	352954	broad.mit.edu	37	7	99821277	99821277	+	Silent	SNP	T	T	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:99821277T>A	ENST00000436886.2	-	4	704	c.456A>T	c.(454-456)tcA>tcT	p.S152S	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	152										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTGAACTCTGATGACAACG	0.612																																						uc003uua.3		NaN																	0					0						c.(454-456)TCA>TCT		GATS, stromal antigen 3 opposite strand							199.0	210.0	206.0					7																	99821277		2130	4231	6361	SO:0001819	synonymous_variant	352954							g.chr7:99821277T>A	AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.456A>T	7.37:g.99821277T>A						GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc010lgt.2_RNA|GATS_uc011kjl.1_5'Flank|GATS_uc010lgu.2_RNA	p.S152S	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN			4	705	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		152					D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Silent	SNP	ENST00000436886.2	37	c.456A>T	CCDS43621.1																																																																																				0.612	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_178831		49	217	0	0	0	0.01441	0	49	217		
SRRT	51593	broad.mit.edu	37	7	100479836	100479836	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100479836C>T	ENST00000347433.4	+	5	719	c.561C>T	c.(559-561)ttC>ttT	p.F187F	SRRT_ENST00000457580.2_Silent_p.F187F|SRRT_ENST00000432932.1_Silent_p.F187F|SRRT_ENST00000388793.4_Silent_p.F187F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	187					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						TGCAGGATTTCTTCCTGGCGC	0.587																																						uc003uwy.2		NaN																	0				ovary(2)	2						c.(559-561)TTC>TTT		arsenate resistance protein 2 isoform a							109.0	93.0	99.0					7																	100479836		2203	4300	6503	SO:0001819	synonymous_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479836C>T		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.561C>T	7.37:g.100479836C>T						SRRT_uc010lhl.1_Silent_p.F187F|SRRT_uc003uxa.2_Silent_p.F187F|SRRT_uc003uwz.2_Silent_p.F187F	p.F187F	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN			6	829	+			187					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	ENST00000347433.4	37	c.561C>T	CCDS34709.1																																																																																				0.587	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1		NM_015908		10	62	0	0	0	0.008291	0	10	62		
MUC17	140453	broad.mit.edu	37	7	100680758	100680758	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100680758G>A	ENST00000306151.4	+	3	6125	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2021	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGGCAGTTC	0.517																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(6061-6063)GAA>AAA		mucin 17 precursor							204.0	195.0	198.0					7																	100680758		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680758G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6061G>A	7.37:g.100680758G>A	ENSP00000302716:p.Glu2021Lys					MUC17_uc010lho.1_RNA	p.E2021K	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	6114	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2021			Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.6061G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	5.428	0.264127	0.10294	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.683	0.683	0.17998	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.19945	N	0.999941	P	0.47604	0.898	B	0.31686	0.134	T	0.32428	-0.9907	9	0.06099	T	0.92	.	7.3005	0.26418	1.0E-4:0.0:0.9999:0.0	.	2021	Q685J3	MUC17_HUMAN	K	2021	ENSP00000302716:E2021K	ENSP00000302716:E2021K	E	+	1	0	MUC17	100467478	0.001000	0.12720	0.006000	0.13384	0.018000	0.09664	0.617000	0.24359	0.681000	0.31386	0.134000	0.15878	GAA		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		67	290	0	0	0	0.01441	0	67	290		
TRIM56	81844	broad.mit.edu	37	7	100730635	100730635	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:100730635G>A	ENST00000306085.6	+	3	339	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	14					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGAGGCCCTGAGCAGCGACT	0.622																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2		NaN																	0				kidney(1)|central_nervous_system(1)|skin(1)	3						c.(40-42)CTG>CTA		tripartite motif-containing 56							84.0	97.0	93.0					7																	100730635		2063	4211	6274	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730635G>A	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.42G>A	7.37:g.100730635G>A						TRIM56_uc003uxr.2_Silent_p.L14L	p.L14L	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	273	+	Lung NSC(181;0.136)|all_lung(186;0.182)		14					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.42G>A	CCDS43625.1																																																																																				0.622	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1		NM_030961		10	317	0	0	0	0.008291	0	10	317		
TES	26136	broad.mit.edu	37	7	115889220	115889220	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:115889220A>G	ENST00000358204.4	+	3	475	c.260A>G	c.(259-261)tAt>tGt	p.Y87C	TES_ENST00000485009.1_3'UTR|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000393481.2_Missense_Mutation_p.Y78C|TES_ENST00000537767.1_Intron	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	87					negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATTCCCATGTATAAACGCAAT	0.403																																						uc003vho.2		NaN																	0					0						c.(259-261)TAT>TGT		testin isoform 1							124.0	118.0	120.0					7																	115889220		2203	4300	6503	SO:0001583	missense	26136				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	g.chr7:115889220A>G	AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.260A>G	7.37:g.115889220A>G	ENSP00000350937:p.Tyr87Cys					TES_uc011kmx.1_Missense_Mutation_p.Y87C|TES_uc011kmy.1_Intron|TES_uc010lka.1_Missense_Mutation_p.Y78C|TES_uc003vhp.2_Missense_Mutation_p.Y78C	p.Y87C	NM_015641	NP_056456	Q9UGI8	TES_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	441	+	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	87					A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	ENST00000358204.4	37	c.260A>G	CCDS5763.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889218	0.72524	.	.	ENSG00000135269	ENST00000358204;ENST00000455989;ENST00000257721;ENST00000393481	T;D;T	0.87029	0.14;-2.2;0.14	5.53	4.35	0.52113	.	0.000000	0.64402	D	0.000009	D	0.91392	0.7284	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.996	P;P	0.60886	0.864;0.88	D	0.91405	0.5146	10	0.66056	D	0.02	1.4704	12.0357	0.53423	0.8706:0.0:0.0:0.1294	.	87;87	B7Z5L5;Q9UGI8	.;TES_HUMAN	C	87;2;87;78	ENSP00000350937:Y87C;ENSP00000413002:Y2C;ENSP00000377121:Y78C	ENSP00000257721:Y87C	Y	+	2	0	TES	115676456	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	0.984000	0.38629	0.528000	0.53228	TAT		0.403	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059413.2		NM_015641		25	37	0	0	0	0.005443	0	25	37		
PTPRZ1	5803	broad.mit.edu	37	7	121651654	121651654	+	Missense_Mutation	SNP	G	G	A	rs553036565		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:121651654G>A	ENST00000393386.2	+	12	2965	c.2554G>A	c.(2554-2556)Gat>Aat	p.D852N	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	852					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TACCGAGAGTGATAAGGTGCC	0.473																																						uc003vjy.2		NaN																	0				ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(2554-2556)GAT>AAT		protein tyrosine phosphatase, receptor-type,							129.0	121.0	124.0					7																	121651654		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651654G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2554G>A	7.37:g.121651654G>A	ENSP00000377047:p.Asp852Asn					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.D852N	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	2949	+			852			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2554G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360377	0.82353	.	.	ENSG00000106278	ENST00000393386	T	0.52295	0.67	5.71	5.71	0.89125	.	0.070002	0.64402	D	0.000016	T	0.62962	0.2471	M	0.71581	2.175	0.80722	D	1	D	0.60160	0.987	P	0.52793	0.709	T	0.66280	-0.5963	10	0.72032	D	0.01	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	852	P23471	PTPRZ_HUMAN	N	852	ENSP00000377047:D852N	ENSP00000377047:D852N	D	+	1	0	PTPRZ1	121438890	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	7.113000	0.77095	2.691000	0.91804	0.650000	0.86243	GAT		0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851		10	81	0	0	0	0.008291	0	10	81		
FAM71F1	84691	broad.mit.edu	37	7	128355536	128355536	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:128355536C>G	ENST00000315184.5	+	1	94	c.41C>G	c.(40-42)tCa>tGa	p.S14*	FAM71F1_ENST00000469348.1_Intron|FAM71F1_ENST00000485070.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	14										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGGAGGAAATCAAAGAAGACA	0.493																																						uc003vno.1		NaN																	0				skin(1)	1						c.(40-42)TCA>TGA		testes development-related NYD-SP18							88.0	93.0	91.0					7																	128355536		2203	4300	6503	SO:0001587	stop_gained	84691							g.chr7:128355536C>G	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.41C>G	7.37:g.128355536C>G	ENSP00000326652:p.Ser14*					FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Nonsense_Mutation_p.S14*	p.S14*	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			1	94	+			14					Q8IY75|Q8NA48	Nonsense_Mutation	SNP	ENST00000315184.5	37	c.41C>G	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105036	0.77096	.	.	ENSG00000135248	ENST00000315184	.	.	.	5.41	1.07	0.20283	.	0.709532	0.12198	N	0.490593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	0.8426	4.6346	0.12518	0.0:0.4479:0.3315:0.2205	.	.	.	.	X	14	.	ENSP00000326652:S14X	S	+	2	0	FAM71F1	128142772	0.057000	0.20700	0.227000	0.23927	0.876000	0.50452	0.079000	0.14782	0.011000	0.14865	-0.274000	0.10170	TCA		0.493	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2		NM_032599		53	58	0	0	0	0.01441	0	53	58		
FAM71F1	84691	broad.mit.edu	37	7	128359081	128359081	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:128359081C>G	ENST00000315184.5	+	3	684	c.631C>G	c.(631-633)Ctt>Gtt	p.L211V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.L112V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	211										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCCTAGGATTCTTGTCACGCA	0.542																																						uc003vno.1		NaN																	0				skin(1)	1						c.(631-633)CTT>GTT		testes development-related NYD-SP18							127.0	116.0	119.0					7																	128359081		2203	4300	6503	SO:0001583	missense	84691							g.chr7:128359081C>G	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.631C>G	7.37:g.128359081C>G	ENSP00000326652:p.Leu211Val					FAM71F1_uc010llo.1_Missense_Mutation_p.L112V|FAM71F1_uc011koq.1_Missense_Mutation_p.L103V|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.L112V|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.L211V	p.L211V	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			3	684	+			211					Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.631C>G	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981695	0.53827	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24350	1.86;3.23;1.92	4.69	3.81	0.43845	.	0.563478	0.16249	N	0.222787	T	0.42607	0.1210	M	0.63428	1.95	0.26800	N	0.969217	D;B;D;D;D	0.71674	0.983;0.216;0.998;0.997;0.997	P;B;D;D;D	0.72625	0.708;0.208;0.915;0.978;0.978	T	0.16276	-1.0408	10	0.29301	T	0.29	-1.224	8.6669	0.34125	0.0:0.8956:0.0:0.1044	.	103;211;211;211;112	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	112;211;67	ENSP00000418192:L112V;ENSP00000326652:L211V;ENSP00000417930:L67V	ENSP00000326652:L211V	L	+	1	0	FAM71F1	128146317	0.959000	0.32827	0.962000	0.40283	0.869000	0.49853	3.726000	0.54977	1.335000	0.45486	0.591000	0.81541	CTT		0.542	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2		NM_032599		80	63	0	0	0	0.01441	0	80	63		
EZH2	2146	broad.mit.edu	37	7	148526869	148526870	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr7:148526869_148526870GA>AT	ENST00000460911.1	-	5	522_523	c.434_435TC>AT	c.(433-435)tTC>tAT	p.F145Y	EZH2_ENST00000536783.1_Missense_Mutation_p.F36Y|EZH2_ENST00000350995.2_Missense_Mutation_p.F106Y|EZH2_ENST00000476773.1_Missense_Mutation_p.F136Y|EZH2_ENST00000483967.1_Missense_Mutation_p.F136Y|EZH2_ENST00000478654.1_Missense_Mutation_p.F136Y|EZH2_ENST00000320356.2_Missense_Mutation_p.F145Y|EZH2_ENST00000541220.1_Missense_Mutation_p.F136Y			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	145	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.F145C(1)|p.F145S(1)|p.F145L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTTCTTCAATGAAAGTACCATC	0.337			Mis		DLBCL																																	uc003wfd.1		NaN		Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		3	Substitution - Missense(3)	p.F145C(1)	haematopoietic_and_lymphoid_tissue(3)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(433-435)TTC>TAT		enhancer of zeste 2 isoform a																																				SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148526869_148526870GA>AT		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.434_435delinsAT	7.37:g.148526869_148526870delinsAT	ENSP00000419711:p.Phe145Tyr					EZH2_uc011kug.1_Missense_Mutation_p.F136Y|EZH2_uc003wfb.1_Missense_Mutation_p.F145Y|EZH2_uc003wfc.1_Missense_Mutation_p.F106Y|EZH2_uc011kuh.1_Missense_Mutation_p.F136Y|EZH2_uc011kui.1_Missense_Mutation_p.F145Y|EZH2_uc011kuj.1_RNA	p.F145Y	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		5	600_601	-	Melanoma(164;0.15)		145			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	DNP	ENST00000460911.1	37	c.434_435TC>AT	CCDS56516.1																																																																																				0.337	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1		NM_004456		12	59	0	0	0	0.004672	0	12	59		
ERICH1	157697	broad.mit.edu	37	8	618727	618727	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:618727C>T	ENST00000262109.7	-	5	1206	c.1129G>A	c.(1129-1131)Gcg>Acg	p.A377T	ERICH1_ENST00000522706.1_Missense_Mutation_p.A283T	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	377										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		CTGTGTGACGCAAGGCGGTCC	0.517																																						uc003wph.2		NaN																	0				large_intestine(2)	2						c.(1129-1131)GCG>ACG		glutamate-rich 1							97.0	83.0	88.0					8																	618727		2203	4300	6503	SO:0001583	missense	157697							g.chr8:618727C>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.1129G>A	8.37:g.618727C>T	ENSP00000262109:p.Ala377Thr					ERICH1_uc011kwh.1_Missense_Mutation_p.A377T|ERICH1_uc003wpe.1_Missense_Mutation_p.A283T|ERICH1_uc003wpi.2_Missense_Mutation_p.A189T	p.A377T	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	5	1194	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	377					A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.1129G>A	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894500	0.52121	.	.	ENSG00000104714	ENST00000543819;ENST00000522706;ENST00000262109	T;T	0.31510	1.51;1.49	5.55	5.55	0.83447	.	0.483840	0.20852	N	0.084510	T	0.34019	0.0883	L	0.29908	0.895	0.20873	N	0.999836	P;D;P	0.56035	0.73;0.974;0.874	B;P;B	0.50659	0.35;0.647;0.443	T	0.19095	-1.0316	10	0.66056	D	0.02	-7.8421	14.9868	0.71353	0.0:1.0:0.0:0.0	.	377;377;283	B4DMI5;Q86X53;E5RHA3	.;ERIC1_HUMAN;.	T	377;283;377	ENSP00000428635:A283T;ENSP00000262109:A377T	ENSP00000262109:A377T	A	-	1	0	ERICH1	608727	0.181000	0.23161	0.121000	0.21740	0.005000	0.04900	1.893000	0.39758	2.596000	0.87737	0.655000	0.94253	GCG		0.517	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3		NM_207332		18	26	0	0	0	0.006122	0	18	26		
SGK223	157285	broad.mit.edu	37	8	8234441	8234441	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:8234441G>C	ENST00000520004.1	-	3	1742	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	SGK223_ENST00000330777.4_Missense_Mutation_p.S493C			Q86YV5	SG223_HUMAN		495							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CCCCACTGCAGAGTCAGGGCT	0.642																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NaN																	0					0						c.(1477-1479)TCT>TGT		pragmin							26.0	29.0	28.0					8																	8234441		2098	4236	6334	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234441G>C																												ENST00000520004.1:c.1478C>G	8.37:g.8234441G>C	ENSP00000428054:p.Ser493Cys						p.S493C	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			2	1478	-			493					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.1478C>G	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988994	0.74589	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.67865	-0.29;-0.29	4.78	3.89	0.44902	.	0.196214	0.32802	N	0.005634	T	0.77857	0.4193	M	0.66939	2.045	0.52501	D	0.999953	D	0.89917	1.0	D	0.73380	0.98	T	0.80013	-0.1560	10	0.87932	D	0	.	11.8301	0.52290	0.0854:0.0:0.9146:0.0	.	493	Q86YV5	SG223_HUMAN	C	493	ENSP00000330930:S493C;ENSP00000428054:S493C	ENSP00000330930:S493C	S	-	2	0	AC068353.1	8271851	1.000000	0.71417	0.975000	0.42487	0.970000	0.65996	7.561000	0.82288	2.380000	0.81148	0.655000	0.94253	TCT		0.642	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1				9	22	0	0	0	0.008291	0	9	22		
ADAM7	8756	broad.mit.edu	37	8	24324310	24324310	+	Splice_Site	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:24324310A>C	ENST00000175238.6	+	6	472		c.e6-1		RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Splice_Site|ADAM7_ENST00000380789.1_Splice_Site	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAATTTCTACAGGGGATTCTT	0.383																																						uc003xeb.2		NaN																	0				skin(3)|ovary(1)|kidney(1)	5						c.e6-2		a disintegrin and metalloproteinase domain 7							76.0	77.0	77.0					8																	24324310		2203	4300	6503	SO:0001630	splice_region_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324310A>C	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.390-1A>C	8.37:g.24324310A>C						ADAM7_uc003xea.1_Splice_Site_p.R130_splice	p.R130_splice	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	503	+		Prostate(55;0.0181)						A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	ENST00000175238.6	37	c.390_splice	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580355	0.65992	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7303	0.51732	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24380200	0.992000	0.36948	0.954000	0.39281	0.916000	0.54674	3.994000	0.56994	2.270000	0.75569	0.459000	0.35465	.		0.383	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1		NM_003817	Intron	8	15	0	0	0	0.004482	0	8	15		
PRKDC	5591	broad.mit.edu	37	8	48803019	48803019	+	Silent	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:48803019A>C	ENST00000314191.2	-	33	3923	c.3867T>G	c.(3865-3867)ctT>ctG	p.L1289L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L1289L|AC103686.1_ENST00000390136.2_RNA	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1290					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTGCTTTCAAAAGTGAAGACT	0.383								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(3868-3870)CTT>CTG	NHEJ	protein kinase, DNA-activated, catalytic							60.0	53.0	55.0					8																	48803019		1830	4087	5917	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48803019A>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3867T>G	8.37:g.48803019A>C						PRKDC_uc003xqj.2_Silent_p.L1290L|PRKDC_uc011ldh.1_Intron	p.L1290L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			33	3927	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1290					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.3870T>G																																																																																					0.383	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		5	11	0	0	0	0.014758	0	5	11		
CHD7	55636	broad.mit.edu	37	8	61655385	61655385	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:61655385C>A	ENST00000423902.2	+	2	1873	c.1394C>A	c.(1393-1395)tCc>tAc	p.S465Y	CHD7_ENST00000525508.1_Missense_Mutation_p.S465Y|CHD7_ENST00000524602.1_Missense_Mutation_p.S465Y	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	465	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATAGGCATGTCCTCGGCACCA	0.557																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(1393-1395)TCC>TAC		chromodomain helicase DNA binding protein 7							56.0	62.0	60.0					8																	61655385		2035	4196	6231	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61655385C>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1394C>A	8.37:g.61655385C>A	ENSP00000392028:p.Ser465Tyr						p.S465Y	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1871	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	465			Pro-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.1394C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849418	0.71603	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	D;T;T	0.82893	-1.66;1.39;-1.27	5.39	5.39	0.77823	.	0.000000	0.38381	N	0.001704	T	0.75627	0.3875	L	0.29908	0.895	0.51233	D	0.999918	P	0.35575	0.51	B	0.29176	0.099	T	0.78119	-0.2328	10	0.72032	D	0.01	-12.7733	19.1439	0.93457	0.0:1.0:0.0:0.0	.	465	Q9P2D1	CHD7_HUMAN	Y	465	ENSP00000392028:S465Y;ENSP00000437061:S465Y;ENSP00000436027:S465Y	ENSP00000307304:S465Y	S	+	2	0	CHD7	61817939	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.665000	0.68052	2.551000	0.86045	0.563000	0.77884	TCC		0.557	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		9	39	1	0	0.000274275	0.004482	0.000349923	9	39		
CHD7	55636	broad.mit.edu	37	8	61735064	61735064	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:61735064G>A	ENST00000423902.2	+	12	3439	c.2960G>A	c.(2959-2961)cGa>cAa	p.R987Q	CHD7_ENST00000525508.1_Missense_Mutation_p.R987Q|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	987	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTAAAGGCGAAACTGCATT	0.343																																						uc003xue.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(2959-2961)CGA>CAA		chromodomain helicase DNA binding protein 7							63.0	63.0	63.0					8																	61735064		1835	4086	5921	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61735064G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2960G>A	8.37:g.61735064G>A	ENSP00000392028:p.Arg987Gln					CHD7_uc003xuf.2_Missense_Mutation_p.R100Q	p.R987Q	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		12	3437	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	987			Helicase ATP-binding.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2960G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022274	0.54683	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;D	0.93488	-3.23;-3.23	5.32	5.32	0.75619	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.88883	0.6558	N	0.20766	0.605	0.80722	D	1	B;B	0.27951	0.031;0.195	B;B	0.32342	0.008;0.144	D	0.84979	0.0887	10	0.21014	T	0.42	-9.2	19.3617	0.94442	0.0:0.0:1.0:0.0	.	987;987	Q9P2D1-2;Q9P2D1	.;CHD7_HUMAN	Q	987	ENSP00000392028:R987Q;ENSP00000436027:R987Q	ENSP00000307304:R987Q	R	+	2	0	CHD7	61897618	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.786000	0.75094	2.646000	0.89796	0.655000	0.94253	CGA		0.343	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2		XM_098762		7	49	0	0	0	0.001984	0	7	49		
CSPP1	79848	broad.mit.edu	37	8	68076741	68076741	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:68076741C>G	ENST00000262210.5	+	22	2842	c.2811C>G	c.(2809-2811)atC>atG	p.I937M	CSPP1_ENST00000412460.1_Missense_Mutation_p.I592M|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	972					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAATTCCTATCAGGCAAGTTT	0.368																																						uc003xxi.2		NaN																	0				ovary(3)|breast(2)	5						c.(2914-2916)ATC>ATG		centrosome spindle pole associated protein 1							191.0	186.0	187.0					8																	68076741		1868	4107	5975	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68076741C>G	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2811C>G	8.37:g.68076741C>G	ENSP00000262210:p.Ile937Met					CSPP1_uc003xxj.2_Missense_Mutation_p.I937M|CSPP1_uc003xxk.2_Missense_Mutation_p.I592M|CSPP1_uc010lyw.2_Missense_Mutation_p.I32M	p.I972M	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		24	2947	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	972					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2916C>G	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	c	10.77	1.444741	0.25987	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.32753	1.44;1.46;1.46	5.28	-5.82	0.02333	.	0.768959	0.11720	N	0.535956	T	0.17408	0.0418	L	0.31926	0.97	0.09310	N	1	B;B;P;B	0.42078	0.038;0.005;0.77;0.012	B;B;B;B	0.39217	0.022;0.007;0.294;0.009	T	0.14062	-1.0486	10	0.35671	T	0.21	-0.113	7.837	0.29376	0.2871:0.3379:0.3749:0.0	.	95;592;937;972	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	M	937;972;592;592	ENSP00000262210:I937M;ENSP00000415782:I592M;ENSP00000430092:I592M	ENSP00000262210:I937M	I	+	3	3	CSPP1	68239295	0.006000	0.16342	0.002000	0.10522	0.206000	0.24218	-0.647000	0.05397	-0.801000	0.04427	-0.269000	0.10298	ATC		0.368	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1		NM_024790		30	204	0	0	0	0.013726	0	30	204		
SULF1	23213	broad.mit.edu	37	8	70536209	70536209	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:70536209A>G	ENST00000260128.4	+	15	2344	c.1627A>G	c.(1627-1629)Aca>Gca	p.T543A	SULF1_ENST00000458141.2_Missense_Mutation_p.T543A|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.T543A|SULF1_ENST00000402687.4_Missense_Mutation_p.T543A	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	543					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACTCGGCAGACACGTTCCTT	0.408																																						uc010lza.1		NaN																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(1627-1629)ACA>GCA		sulfatase 1 precursor							110.0	105.0	107.0					8																	70536209		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70536209A>G	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1627A>G	8.37:g.70536209A>G	ENSP00000260128:p.Thr543Ala					SULF1_uc003xyd.2_Missense_Mutation_p.T543A|SULF1_uc003xye.2_Missense_Mutation_p.T543A|SULF1_uc003xyf.2_Missense_Mutation_p.T543A|SULF1_uc003xyg.2_Missense_Mutation_p.T543A|SULF1_uc003xyh.1_RNA	p.T543A	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		15	2344	+	Breast(64;0.0654)		543					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1627A>G	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	11.16	1.556479	0.27827	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	5.78	5.78	0.91487	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.089288	0.85682	D	0.000000	D	0.96676	0.8915	L	0.45470	1.425	0.46437	D	0.999042	B	0.21606	0.058	B	0.25405	0.06	D	0.95753	0.8793	10	0.07813	T	0.8	.	16.1109	0.81263	1.0:0.0:0.0:0.0	.	543	Q8IWU6	SULF1_HUMAN	A	543	ENSP00000403040:T543A;ENSP00000260128:T543A;ENSP00000385704:T543A;ENSP00000390315:T543A	ENSP00000260128:T543A	T	+	1	0	SULF1	70698763	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.626000	0.54245	2.185000	0.69588	0.533000	0.62120	ACA		0.408	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2		NM_015170		29	138	0	0	0	0.010818	0	29	138		
SLCO5A1	81796	broad.mit.edu	37	8	70585512	70585512	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:70585512G>A	ENST00000260126.4	-	10	2845	c.2139C>T	c.(2137-2139)tgC>tgT	p.C713C	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.C658C	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	713						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCCAGAGCATGCAGGTGGTGT	0.478																																						uc003xyl.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2137-2139)TGC>TGT		solute carrier organic anion transporter family,							147.0	146.0	147.0					8																	70585512		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585512G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2139C>T	8.37:g.70585512G>A						SLCO5A1_uc010lzb.2_Silent_p.C658C|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	p.C713C	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	2846	-	Breast(64;0.0654)		713			Extracellular (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.2139C>T	CCDS6205.1																																																																																				0.478	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3		NM_030958		42	214	0	0	0	0.00874	0	42	214		
ZFHX4	79776	broad.mit.edu	37	8	77767112	77767112	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:77767112G>T	ENST00000521891.2	+	10	8403	c.7955G>T	c.(7954-7956)tGg>tTg	p.W2652L	ZFHX4_ENST00000050961.6_Missense_Mutation_p.W2607L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.W2607L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.W2626L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.W2636*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGCAAGTCTGGTTCCAGAAT	0.498										HNSCC(33;0.089)																												uc003yav.2		NaN																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7819-7821)TGG>TTG		zinc finger homeodomain 4							51.0	53.0	52.0					8																	77767112		1884	4132	6016	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767112G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7955G>T	8.37:g.77767112G>T	ENSP00000430497:p.Trp2652Leu	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.W2652L|ZFHX4_uc003yaw.1_Missense_Mutation_p.W2607L	p.W2607L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8207	+			2607			Homeobox 3.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7820G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280390	0.59758	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62	4.99	4.99	0.66335	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.42053	U	0.000761	D	0.99869	0.9938	H	0.98866	4.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.998	D	0.96484	0.9358	10	0.62326	D	0.03	.	18.4467	0.90686	0.0:0.0:1.0:0.0	.	2607;2607;2652	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	L	2652;2636;2607;2607;2626	ENSP00000430497:W2652L;ENSP00000399605:W2607L;ENSP00000050961:W2607L;ENSP00000430848:W2626L	ENSP00000050961:W2607L	W	+	2	0	ZFHX4	77929667	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.591000	0.87537	0.455000	0.32223	TGG		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		24	124	1	0	3.83957e-06	0.016522	5.04629e-06	24	124		
DCAF4L2	138009	broad.mit.edu	37	8	88885180	88885180	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:88885180G>A	ENST00000319675.3	-	1	1116	c.1020C>T	c.(1018-1020)atC>atT	p.I340I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	340										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGAGGCTCCAGATTCTCGTGT	0.592																																						uc003ydz.2		NaN																	0				ovary(1)	1						c.(1018-1020)ATC>ATT		WD repeat domain 21C							81.0	89.0	86.0					8																	88885180		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885180G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1020C>T	8.37:g.88885180G>A							p.I340I	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1117	-			340			WD 2.			Silent	SNP	ENST00000319675.3	37	c.1020C>T	CCDS6245.1																																																																																				0.592	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1		NM_152418		14	129	0	0	0	0.00499	0	14	129		
SLC26A7	115111	broad.mit.edu	37	8	92301462	92301462	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:92301462C>A	ENST00000276609.3	+	3	531	c.292C>A	c.(292-294)Cat>Aat	p.H98N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.H98N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.H98N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AATGGGACATCATGTTGCCAC	0.378																																						uc003yex.2		NaN																	0				ovary(2)	2						c.(292-294)CAT>AAT		solute carrier family 26, member 7 isoform a							229.0	202.0	211.0					8																	92301462		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92301462C>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.292C>A	8.37:g.92301462C>A	ENSP00000276609:p.His98Asn					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.H98N|SLC26A7_uc003yfa.2_Missense_Mutation_p.H98N	p.H98N	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		4	570	+			98			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.292C>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542574	0.85917	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.96506	0.8860	M	0.82323	2.585	0.43043	D	0.994632	D;D	0.76494	0.998;0.999	D;D	0.81914	0.991;0.995	D	0.96403	0.9298	10	0.87932	D	0	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	98;98	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	N	98	ENSP00000428881:H98N;ENSP00000428849:H98N;ENSP00000276609:H98N;ENSP00000309504:H98N	ENSP00000276609:H98N	H	+	1	0	SLC26A7	92370638	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.748000	0.62148	2.941000	0.99782	0.655000	0.94253	CAT		0.378	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1				21	199	1	0	0.000175454	0.010504	0.000224886	21	199		
KIAA1429	25962	broad.mit.edu	37	8	95508024	95508024	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:95508024G>A	ENST00000297591.5	-	19	4554	c.4479C>T	c.(4477-4479)ctC>ctT	p.L1493L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1493					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCTGGTCACTGAGAGGTAAAG	0.388																																						uc003ygo.1		NaN																	0				ovary(1)|skin(1)	2						c.(4477-4479)CTC>CTT		hypothetical protein LOC25962 isoform 1							113.0	101.0	105.0					8																	95508024		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95508024G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4479C>T	8.37:g.95508024G>A						KIAA1429_uc010maz.1_RNA	p.L1493L	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		19	4492	-	Breast(36;3.29e-05)		1493					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.4479C>T	CCDS34923.1																																																																																				0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2		NM_015496		12	97	0	0	0	0.016723	0	12	97		
UBR5	51366	broad.mit.edu	37	8	103354706	103354706	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:103354706C>G	ENST00000520539.1	-	9	1699	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	UBR5_ENST00000521922.1_Missense_Mutation_p.D359H|UBR5_ENST00000220959.4_Missense_Mutation_p.D365H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	365					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATACCTTATCAGGCCACCAC	0.408																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NaN																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1093-1095)GAT>CAT		ubiquitin protein ligase E3 component n-recognin							145.0	140.0	142.0					8																	103354706		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103354706C>G	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1093G>C	8.37:g.103354706C>G	ENSP00000429084:p.Asp365His					UBR5_uc003yks.1_Missense_Mutation_p.D365H	p.D365H	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		9	1126	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		365					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.1093G>C	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732133	0.89390	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.80393	-1.37;-1.37;-1.37	5.25	5.25	0.73442	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.000000	0.85682	D	0.000000	D	0.83603	0.5290	L	0.52011	1.625	0.80722	D	1	D;D	0.56968	0.978;0.978	P;P	0.51615	0.675;0.675	D	0.85414	0.1139	10	0.72032	D	0.01	.	19.2	0.93708	0.0:1.0:0.0:0.0	.	359;365	E7EMW7;O95071	.;UBR5_HUMAN	H	365;365;359	ENSP00000429084:D365H;ENSP00000220959:D365H;ENSP00000427819:D359H	ENSP00000220959:D365H	D	-	1	0	UBR5	103423882	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.610000	0.88304	0.655000	0.94253	GAT		0.408	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2		NM_015902		24	144	0	0	0	0.01892	0	24	144		
PKHD1L1	93035	broad.mit.edu	37	8	110460594	110460594	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:110460594A>C	ENST00000378402.5	+	39	6103	c.5999A>C	c.(5998-6000)aAt>aCt	p.N2000T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2000	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCCGCTTAATATTCAAAAT	0.373										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5998-6000)AAT>ACT		fibrocystin L precursor							58.0	56.0	57.0					8																	110460594		1853	4111	5964	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110460594A>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5999A>C	8.37:g.110460594A>C	ENSP00000367655:p.Asn2000Thr	HNSCC(38;0.096)					p.N2000T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		39	6103	+			2000			Extracellular (Potential).|IPT/TIG 13.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5999A>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	1.145	-0.648331	0.03506	.	.	ENSG00000205038	ENST00000378402	T	0.74002	-0.8	5.63	2.54	0.30619	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.995509	0.08148	N	0.990524	T	0.38719	0.1051	N	0.00419	-1.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.06236	T	0.91	.	10.3573	0.43972	0.1942:0.6962:0.1097:0.0	.	2000	Q86WI1	PKHL1_HUMAN	T	2000	ENSP00000367655:N2000T	ENSP00000367655:N2000T	N	+	2	0	PKHD1L1	110529770	0.000000	0.05858	0.002000	0.10522	0.695000	0.40330	0.971000	0.29396	0.199000	0.20427	0.477000	0.44152	AAT		0.373	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		5	46	0	0	0	0.014758	0	5	46		
COL14A1	7373	broad.mit.edu	37	8	121211724	121211724	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:121211724A>T	ENST00000297848.3	+	8	1066	c.796A>T	c.(796-798)Atc>Ttc	p.I266F	COL14A1_ENST00000537875.1_Missense_Mutation_p.I266F|COL14A1_ENST00000309791.4_Missense_Mutation_p.I266F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Intron	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGCATTTTAATCACAGATGG	0.383																																						uc003yox.2		NaN																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(796-798)ATC>TTC		collagen, type XIV, alpha 1 precursor							125.0	112.0	117.0					8																	121211724		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121211724A>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.796A>T	8.37:g.121211724A>T	ENSP00000297848:p.Ile266Phe					COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_Intron	p.I266F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		8	1061	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		266			VWFA 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.796A>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124501	0.77436	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000434620	T;T;T;D	0.83837	-1.33;-1.33;-1.33;-1.77	5.54	5.54	0.83059	von Willebrand factor, type A (3);	0.101237	0.64402	D	0.000004	D	0.89924	0.6856	M	0.70275	2.135	0.51767	D	0.99993	D	0.69078	0.997	D	0.67382	0.951	D	0.91021	0.4857	10	0.87932	D	0	.	15.8453	0.78883	1.0:0.0:0.0:0.0	.	266	Q05707	COEA1_HUMAN	F	266;266;266;79	ENSP00000443974:I266F;ENSP00000311809:I266F;ENSP00000297848:I266F;ENSP00000409461:I79F	ENSP00000297848:I266F	I	+	1	0	COL14A1	121280905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.936000	0.56568	2.330000	0.79161	0.528000	0.53228	ATC		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		NM_021110		8	46	0	0	0	0.00308	0	8	46		
C8orf76	84933	broad.mit.edu	37	8	124253563	124253563	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124253563G>A	ENST00000276704.4	-	1	75	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZHX1-C8ORF76_ENST00000357082.4_Intron|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	8								p.F8L(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ACTCGCCGCCGAACAACCAGC	0.716																																						uc003yqc.1		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(2)	2						c.(22-24)TTC>TTT		hypothetical protein LOC84933							11.0	11.0	11.0					8																	124253563		2168	4258	6426	SO:0001819	synonymous_variant	84933						binding	g.chr8:124253563G>A	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.24C>T	8.37:g.124253563G>A						C8orf76_uc003yqd.2_Intron	p.F8F	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	55	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		8					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.24C>T	CCDS6341.1																																																																																				0.716	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1		NM_032847		10	49	0	0	0	0.010729	0	10	49		
ATAD2	29028	broad.mit.edu	37	8	124392872	124392872	+	Missense_Mutation	SNP	C	C	G	rs148295369		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124392872C>G	ENST00000287394.5	-	2	324	c.217G>C	c.(217-219)Gct>Cct	p.A73P	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	73					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GATCTTAAAGCACGTGTCCGG	0.358																																						uc003yqh.3		NaN																	0				ovary(2)	2						c.(217-219)GCT>CCT		ATPase family, AAA domain containing 2							98.0	92.0	94.0					8																	124392872		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124392872C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.217G>C	8.37:g.124392872C>G	ENSP00000287394:p.Ala73Pro					ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.A73P	p.A73P	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	325	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		73					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.217G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	7.273	0.607492	0.14002	.	.	ENSG00000156802	ENST00000287394	T	0.31510	1.49	4.83	-2.74	0.05932	.	1.189790	0.06008	N	0.648969	T	0.16257	0.0391	N	0.14661	0.345	0.09310	N	0.999995	B	0.19583	0.037	B	0.22386	0.039	T	0.31503	-0.9941	10	0.54805	T	0.06	-0.2276	3.4338	0.07438	0.3934:0.306:0.0:0.3006	.	73	Q6PL18	ATAD2_HUMAN	P	73	ENSP00000287394:A73P	ENSP00000287394:A73P	A	-	1	0	ATAD2	124462053	0.004000	0.15560	0.019000	0.16419	0.232000	0.25224	-0.631000	0.05496	-0.358000	0.08162	-0.225000	0.12378	GCT		0.358	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2		NM_014109		7	153	0	0	0	0.001984	0	7	153		
KLHL38	340359	broad.mit.edu	37	8	124664510	124664510	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:124664510G>C	ENST00000325995.7	-	1	680	c.657C>G	c.(655-657)ttC>ttG	p.F219L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	219	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TGACCTGCTTGAACAGTTCCT	0.557																																						uc003yqs.1		NaN																	0					0						c.(655-657)TTC>TTG		kelch-like 38							63.0	68.0	66.0					8																	124664510		2118	4231	6349	SO:0001583	missense	340359							g.chr8:124664510G>C		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.657C>G	8.37:g.124664510G>C	ENSP00000321475:p.Phe219Leu						p.F219L	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	681	-			219			BACK.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.657C>G	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	1.729	-0.494652	0.04322	.	.	ENSG00000175946	ENST00000325995	T	0.56444	0.46	5.84	1.77	0.24775	BTB/Kelch-associated (2);	0.134382	0.64402	N	0.000001	T	0.21387	0.0515	N	0.03224	-0.385	0.41880	D	0.990313	B	0.02656	0.0	B	0.09377	0.004	T	0.26950	-1.0088	10	0.02654	T	1	.	8.7257	0.34467	0.1366:0.4667:0.3967:0.0	.	219	Q2WGJ6	KLH38_HUMAN	L	219	ENSP00000321475:F219L	ENSP00000321475:F219L	F	-	3	2	KLHL38	124733691	1.000000	0.71417	0.814000	0.32528	0.798000	0.45092	2.677000	0.46892	0.280000	0.22209	0.561000	0.74099	TTC		0.557	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1				23	155	0	0	0	0.012319	0	23	155		
FAM49B	51571	broad.mit.edu	37	8	130883726	130883726	+	Missense_Mutation	SNP	C	C	G	rs373503653		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:130883726C>G	ENST00000519824.2	-	4	363	c.90G>C	c.(88-90)gaG>gaC	p.E30D	SNORA25_ENST00000363205.1_RNA|FAM49B_ENST00000519110.1_Missense_Mutation_p.E30D|FAM49B_ENST00000517654.1_Missense_Mutation_p.E30D|FAM49B_ENST00000519540.1_Missense_Mutation_p.E30D|FAM49B_ENST00000401979.2_Missense_Mutation_p.E30D|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000522746.1_Missense_Mutation_p.E30D|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000523509.1_Missense_Mutation_p.E30D	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	30						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CCTTCTCAGACTCTGTAGGCT	0.383																																						uc003yss.2		NaN																	0					0						c.(88-90)GAG>GAC		hypothetical protein LOC51571							70.0	68.0	69.0					8																	130883726		2203	4300	6503	SO:0001583	missense	51571							g.chr8:130883726C>G	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.90G>C	8.37:g.130883726C>G	ENSP00000429150:p.Glu30Asp					FAM49B_uc003yst.2_Missense_Mutation_p.E30D|FAM49B_uc003ysu.2_Missense_Mutation_p.E30D|FAM49B_uc003ysv.2_5'UTR|FAM49B_uc003ysw.2_Missense_Mutation_p.E30D|FAM49B_uc003ysx.2_Missense_Mutation_p.E30D|FAM49B_uc003ysy.1_Missense_Mutation_p.E30D	p.E30D	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		7	639	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		30					Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	ENST00000519824.2	37	c.90G>C	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276378	0.23307	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254;ENST00000519020;ENST00000518167;ENST00000517672;ENST00000519070;ENST00000522361	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.83	0.444	0.16592	.	0.102047	0.64402	D	0.000003	T	0.26810	0.0656	L	0.38953	1.18	0.80722	D	1	B	0.09022	0.002	B	0.19666	0.026	T	0.09596	-1.0667	10	0.10902	T	0.67	-14.3917	8.8351	0.35107	0.0:0.5009:0.0:0.4991	.	30	Q9NUQ9	FA49B_HUMAN	D	30	ENSP00000428117:E30D;ENSP00000429802:E30D;ENSP00000384880:E30D;ENSP00000429078:E30D;ENSP00000429150:E30D;ENSP00000430674:E30D;ENSP00000429499:E30D;ENSP00000430806:E30D;ENSP00000429051:E30D;ENSP00000430694:E30D;ENSP00000429074:E30D;ENSP00000430127:E30D;ENSP00000429659:E30D;ENSP00000427994:E30D;ENSP00000430434:E30D;ENSP00000429860:E30D;ENSP00000430412:E30D	ENSP00000384880:E30D	E	-	3	2	FAM49B	130952908	0.324000	0.24652	0.999000	0.59377	0.999000	0.98932	-0.370000	0.07523	0.059000	0.16252	0.655000	0.94253	GAG		0.383	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2		NM_016623		9	59	0	0	0	0.008291	0	9	59		
LRRC6	23639	broad.mit.edu	37	8	133645151	133645151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:133645151G>T	ENST00000519595.1	-	5	586	c.488C>A	c.(487-489)tCa>tAa	p.S163*	LRRC6_ENST00000520446.1_Intron|LRRC6_ENST00000250173.1_Nonsense_Mutation_p.S163*|LRRC6_ENST00000518642.1_Nonsense_Mutation_p.S163*			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	163					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTCAATTACTGAATAGTCCTG	0.363																																						uc003ytk.2		NaN																	0				ovary(1)|kidney(1)	2						c.(487-489)TCA>TAA		leucine rich repeat containing 6							206.0	184.0	191.0					8																	133645151		2203	4300	6503	SO:0001587	stop_gained	23639					cytoplasm		g.chr8:133645151G>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.488C>A	8.37:g.133645151G>T	ENSP00000429791:p.Ser163*					LRRC6_uc003ytl.2_RNA	p.S163*	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		5	562	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		163					Q13648|Q4G183	Nonsense_Mutation	SNP	ENST00000519595.1	37	c.488C>A		.	.	.	.	.	.	.	.	.	.	G	15.53	2.860198	0.51482	.	.	ENSG00000129295	ENST00000519595;ENST00000518642;ENST00000250173;ENST00000395414	.	.	.	5.35	4.47	0.54385	.	0.753531	0.13617	N	0.374716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-0.3669	13.169	0.59587	0.0768:0.0:0.9232:0.0	.	.	.	.	X	163	.	ENSP00000250173:S163X	S	-	2	0	LRRC6	133714333	0.855000	0.29742	0.010000	0.14722	0.202000	0.24057	2.781000	0.47750	1.391000	0.46566	0.555000	0.69702	TCA		0.363	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1		NM_012472		39	89	1	0	5.43694e-19	0.005524	7.59154e-19	39	89		
TG	7038	broad.mit.edu	37	8	134146952	134146952	+	Missense_Mutation	SNP	G	G	A	rs35054972		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:134146952G>A	ENST00000220616.4	+	48	8261	c.8221G>A	c.(8221-8223)Gaa>Aaa	p.E2741K	TG_ENST00000542445.1_Missense_Mutation_p.E1111K|TG_ENST00000377869.1_Missense_Mutation_p.E2684K|TG_ENST00000519543.1_Missense_Mutation_p.E874K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2741					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGAGAGTGAAGAGGAGGA	0.547																																						uc003ytw.2		NaN																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(8221-8223)GAA>AAA		thyroglobulin precursor							108.0	93.0	98.0					8																	134146952		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134146952G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8221G>A	8.37:g.134146952G>A	ENSP00000220616:p.Glu2741Lys					TG_uc010mdw.2_Missense_Mutation_p.E1500K|TG_uc011ljb.1_Missense_Mutation_p.E1110K|TG_uc011ljc.1_Missense_Mutation_p.E874K	p.E2741K	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	48	8262	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2741					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.8221G>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969101	0.53614	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.69926	-0.21;-0.22;-0.44;-0.42;0.7	4.39	4.39	0.52855	.	0.439445	0.19491	N	0.113000	T	0.58264	0.2110	L	0.32530	0.975	0.09310	N	0.999998	P;P;P	0.50272	0.501;0.933;0.791	B;P;B	0.44811	0.154;0.461;0.212	T	0.54410	-0.8298	10	0.42905	T	0.14	.	12.6257	0.56628	0.0:0.0:1.0:0.0	.	874;1111;2741	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	K	2684;1547;2741;860;1111;874;145	ENSP00000367100:E2684K;ENSP00000220616:E2741K;ENSP00000441693:E1111K;ENSP00000430430:E874K;ENSP00000430161:E145K	ENSP00000220616:E2741K	E	+	1	0	TG	134216134	0.959000	0.32827	0.176000	0.23000	0.014000	0.08584	2.607000	0.46300	2.434000	0.82447	0.491000	0.48974	GAA		0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235		26	58	0	0	0	0.005443	0	26	58		
NDRG1	10397	broad.mit.edu	37	8	134251299	134251299	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:134251299G>C	ENST00000414097.2	-	16	1874	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	NDRG1_ENST00000354944.5_Missense_Mutation_p.S266C|NDRG1_ENST00000323851.7_Missense_Mutation_p.S336C|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000518176.1_Missense_Mutation_p.S83C|NDRG1_ENST00000522476.1_Missense_Mutation_p.S270C|NDRG1_ENST00000537882.1_Missense_Mutation_p.S255C|NDRG1_ENST00000518066.1_Missense_Mutation_p.S45C	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	336					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCCATCCAGAGAAGTGACGCT	0.687			T	ERG	prostate																																	uc003yuh.2		NaN		Dom	yes		8	8q24.3	10397		N-myc downstream regulated 1			E					0				ovary(4)	4						c.(1006-1008)TCT>TGT		N-myc downstream regulated 1							15.0	20.0	18.0					8																	134251299		2182	4273	6455	SO:0001583	missense	10397				cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding	g.chr8:134251299G>C	X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.1007C>G	8.37:g.134251299G>C	ENSP00000404854:p.Ser336Cys					NDRG1_uc003yue.1_Missense_Mutation_p.S51C|NDRG1_uc003yuf.1_Missense_Mutation_p.S147C|NDRG1_uc003yug.2_Missense_Mutation_p.S336C|NDRG1_uc010mee.2_Missense_Mutation_p.S255C|NDRG1_uc010mef.2_Missense_Mutation_p.S270C|NDRG1_uc011ljh.1_Missense_Mutation_p.S164C|NDRG1_uc011lji.1_Missense_Mutation_p.S83C|NDRG1_uc003yui.1_Intron	p.S336C	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		16	1593	-	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		336					B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Missense_Mutation	SNP	ENST00000414097.2	37	c.1007C>G	CCDS34945.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751400	0.89753	.	.	ENSG00000104419	ENST00000323851;ENST00000537144;ENST00000354944;ENST00000414097;ENST00000537882;ENST00000518176;ENST00000535532;ENST00000522476;ENST00000518066	T;T;T;T;T	0.52754	1.98;1.99;1.98;0.65;1.25	5.01	5.01	0.66863	.	0.048422	0.85682	D	0.000000	T	0.63379	0.2506	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.968;0.987	T	0.65784	-0.6084	10	0.87932	D	0	-25.9824	17.483	0.87679	0.0:0.0:1.0:0.0	.	83;336	E7ESM1;Q92597	.;NDRG1_HUMAN	C	336;91;266;336;255;83;164;270;45	ENSP00000319977:S336C;ENSP00000347028:S266C;ENSP00000404854:S336C;ENSP00000437443:S255C;ENSP00000427894:S270C	ENSP00000319977:S336C	S	-	2	0	NDRG1	134320481	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	8.875000	0.92372	2.619000	0.88677	0.655000	0.94253	TCT		0.687	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378805.1				5	41	0	0	0	0.014758	0	5	41		
FAM135B	51059	broad.mit.edu	37	8	139255208	139255208	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:139255208A>T	ENST00000395297.1	-	7	816	c.646T>A	c.(646-648)Tac>Aac	p.Y216N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	216										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTTGCAGTACCCAGCTCCA	0.483										HNSCC(54;0.14)																												uc003yuy.2		NaN																	0				ovary(7)|skin(2)	9						c.(646-648)TAC>AAC		hypothetical protein LOC51059							79.0	80.0	80.0					8																	139255208		1899	4105	6004	SO:0001583	missense	51059							g.chr8:139255208A>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.646T>A	8.37:g.139255208A>T	ENSP00000378710:p.Tyr216Asn	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.Y117N|FAM135B_uc003yuz.2_RNA	p.Y216N	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		7	817	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		216					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.646T>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178142	0.78564	.	.	ENSG00000147724	ENST00000395297	T	0.15256	2.44	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000001	T	0.41050	0.1142	M	0.76574	2.34	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.31833	-0.9929	10	0.54805	T	0.06	-21.3816	13.0832	0.59125	1.0:0.0:0.0:0.0	.	216	Q49AJ0	F135B_HUMAN	N	216	ENSP00000378710:Y216N	ENSP00000276737:Y216N	Y	-	1	0	FAM135B	139324390	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.264000	0.89866	1.840000	0.53500	0.459000	0.35465	TAC		0.483	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912		11	103	0	0	0	0.013537	0	11	103		
PTK2	5747	broad.mit.edu	37	8	141712710	141712710	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:141712710G>C	ENST00000522684.1	-	25	2555	c.2326C>G	c.(2326-2328)Cat>Gat	p.H776D	PTK2_ENST00000395218.2_Missense_Mutation_p.H776D|PTK2_ENST00000340930.3_Missense_Mutation_p.H776D|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Missense_Mutation_p.H444D|PTK2_ENST00000519419.1_Missense_Mutation_p.H820D|PTK2_ENST00000521059.1_Missense_Mutation_p.H776D|PTK2_ENST00000519465.1_Missense_Mutation_p.H404D|PTK2_ENST00000517887.1_Missense_Mutation_p.H820D|PTK2_ENST00000430260.2_Missense_Mutation_p.H86D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	776	Interaction with TGFB1I1.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGAGGTCTATGATTCCATGAA	0.483																																						uc003yvu.2		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(2326-2328)CAT>GAT		PTK2 protein tyrosine kinase 2 isoform a							145.0	133.0	137.0					8																	141712710		2203	4300	6503	SO:0001583	missense	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141712710G>C	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2326C>G	8.37:g.141712710G>C	ENSP00000429911:p.His776Asp					PTK2_uc011ljp.1_Missense_Mutation_p.H84D|PTK2_uc003yvo.2_Missense_Mutation_p.H404D|PTK2_uc011ljq.1_Missense_Mutation_p.H471D|PTK2_uc003yvp.2_Missense_Mutation_p.H444D|PTK2_uc003yvq.2_Missense_Mutation_p.H302D|PTK2_uc003yvr.2_Missense_Mutation_p.H716D|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Missense_Mutation_p.H798D|PTK2_uc003yvv.2_Missense_Mutation_p.H676D|PTK2_uc011ljr.1_Missense_Mutation_p.H776D	p.H776D	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		25	2556	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	776			Interaction with TGFB1I1.		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	ENST00000522684.1	37	c.2326C>G	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276485	0.59649	.	.	ENSG00000169398	ENST00000522684;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000430260;ENST00000521986;ENST00000522424;ENST00000521562	T;T;T;T;T;T;T;T;T;T;T	0.75260	-0.91;-0.9;-0.92;-0.91;-0.9;-0.89;-0.9;-0.89;-0.92;1.49;-0.9	5.47	5.47	0.80525	.	0.136210	0.64402	D	0.000003	T	0.66356	0.2781	L	0.27053	0.805	0.48040	D	0.999575	B;B;B;B;B;B;B;B;B	0.30193	0.07;0.023;0.134;0.272;0.272;0.159;0.127;0.008;0.215	B;B;B;B;B;B;B;B;B	0.31751	0.031;0.058;0.135;0.031;0.031;0.103;0.109;0.008;0.031	T	0.62320	-0.6879	10	0.32370	T	0.25	.	19.2956	0.94120	0.0:0.0:1.0:0.0	.	776;471;696;776;798;728;624;444;404	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.;.;.;FAK1_HUMAN;.;.;.;.;.	D	776;404;820;776;728;776;697;471;448;776;444;820;86;474;86;86	ENSP00000429911:H776D;ENSP00000429170:H404D;ENSP00000429082:H820D;ENSP00000429474:H776D;ENSP00000378644:H776D;ENSP00000428492:H448D;ENSP00000341189:H776D;ENSP00000445742:H444D;ENSP00000429129:H820D;ENSP00000403416:H86D;ENSP00000430603:H474D	ENSP00000341189:H776D	H	-	1	0	PTK2	141781892	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	7.556000	0.82233	2.737000	0.93849	0.561000	0.74099	CAT		0.483	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5		NM_005607		20	139	0	0	0	0.012319	0	20	139		
ZNF696	79943	broad.mit.edu	37	8	144378379	144378379	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:144378379G>A	ENST00000330143.3	+	3	943	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	178					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACAGCGGGGAGAGGCCCTACG	0.697																																						uc003yxy.3		NaN																	0					0						c.(532-534)GAG>GAA		zinc finger protein 696							20.0	15.0	17.0					8																	144378379		2194	4295	6489	SO:0001819	synonymous_variant	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378379G>A	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.534G>A	8.37:g.144378379G>A							p.E178E	NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	943	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		178					A0AVE2	Silent	SNP	ENST00000330143.3	37	c.534G>A	CCDS6399.1																																																																																				0.697	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2		NM_030895		7	36	0	0	0	0.00308	0	7	36		
EEF1D	1936	broad.mit.edu	37	8	144662724	144662724	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:144662724C>T	ENST00000529272.1	-	6	964	c.564G>A	c.(562-564)aaG>aaA	p.K188K	EEF1D_ENST00000395119.3_Silent_p.K188K|EEF1D_ENST00000317198.6_Silent_p.K188K|NAPRT1_ENST00000426292.3_5'Flank|NAPRT1_ENST00000435154.3_5'Flank|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000419152.2_Silent_p.K188K|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000532741.1_Silent_p.K604K|EEF1D_ENST00000442189.2_Silent_p.K554K|EEF1D_ENST00000423316.2_Silent_p.K554K|EEF1D_ENST00000531621.1_Silent_p.K145K|EEF1D_ENST00000532400.1_Intron|RP11-661A12.7_ENST00000529247.1_RNA|EEF1D_ENST00000526838.1_Silent_p.K169K|EEF1D_ENST00000524624.1_Silent_p.K164K|EEF1D_ENST00000528610.1_Silent_p.K164K			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	188	Catalytic (GEF).				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GTGCAGGCTTCTTGGCCTTCT	0.637																																						uc011lki.1		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(562-564)AAG>AAA		eukaryotic translation elongation factor 1 delta							84.0	76.0	79.0					8																	144662724		2203	4300	6503	SO:0001819	synonymous_variant	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144662724C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.564G>A	8.37:g.144662724C>T						NAPRT1_uc003yym.3_5'Flank|NAPRT1_uc003yyn.3_5'Flank|NAPRT1_uc011lkh.1_5'Flank|NAPRT1_uc003yyo.3_5'Flank|EEF1D_uc003yyp.1_Silent_p.K530K|EEF1D_uc003yyq.1_Silent_p.K604K|EEF1D_uc011lkj.1_Silent_p.K553K|EEF1D_uc003yyr.2_Silent_p.K554K|EEF1D_uc003yyt.2_Silent_p.K554K|EEF1D_uc011lkk.1_Silent_p.K188K|EEF1D_uc003yys.2_Silent_p.K188K|EEF1D_uc003yyv.2_Silent_p.K164K|EEF1D_uc003yyu.2_Silent_p.K188K|EEF1D_uc011lkl.1_Silent_p.K169K	p.K188K	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	833	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		188					B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Silent	SNP	ENST00000529272.1	37	c.564G>A	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489092	0.44249	.	.	ENSG00000104529	ENST00000530109	.	.	.	4.52	2.65	0.31530	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52003	-0.8633	4	.	.	.	.	9.3093	0.37893	0.0:0.7732:0.1449:0.082	.	.	.	.	K	63	.	.	E	-	1	0	EEF1D	144733867	1.000000	0.71417	0.947000	0.38551	0.797000	0.45037	1.143000	0.31553	0.432000	0.26286	0.313000	0.20887	GAA		0.637	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2		NM_032378		39	241	0	0	0	0.006999	0	39	241		
FRMPD1	22844	broad.mit.edu	37	9	37735728	37735728	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:37735728C>T	ENST00000539465.1	+	13	1991	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	FRMPD1_ENST00000536622.1_Silent_p.V288V|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.V466V|FRMPD1_ENST00000541302.1_Silent_p.V335V			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	466	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTCAGGACGTCAAGGTAACAC	0.423																																						uc004aag.1		NaN																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1396-1398)GTC>GTT		FERM and PDZ domain containing 1							72.0	72.0	72.0					9																	37735728		2203	4300	6503	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37735728C>T	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1398C>T	9.37:g.37735728C>T						FRMPD1_uc004aah.1_Silent_p.V466V|FRMPD1_uc011lqm.1_Silent_p.V288V|FRMPD1_uc011lqn.1_Silent_p.V335V	p.V466V	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	13	1442	+			466			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.1398C>T	CCDS6612.1																																																																																				0.423	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907		42	3	0	0	0	0.00874	0	42	3		
SPATA31C1	441452	broad.mit.edu	37	9	90535926	90535926	+	RNA	SNP	A	A	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:90535926A>C	ENST00000602681.1	+	0	1830							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCTCTTTCCCAGTCCTATCTC	0.537																																						uc010mqi.2		NaN																	0					0						c.(1102-1104)CCA>CCC		family with sequence similarity 75, member C1							18.0	17.0	18.0					9																	90535926		691	1578	2269			441452							g.chr9:90535926A>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535926A>C						FAM75C1_uc004apq.3_Silent_p.P351P	p.P368P	NM_001145124	NP_001138596					4	1133	+									Silent	SNP	ENST00000602681.1	37	c.1104A>C																																																																																					0.537	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1		NM_001145124		218	409	0	0	0	0.01441	0	218	409		
CTNNAL1	8727	broad.mit.edu	37	9	111745534	111745534	+	Missense_Mutation	SNP	C	C	T	rs150483984	byFrequency	TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:111745534C>T	ENST00000325551.4	-	6	877	c.791G>A	c.(790-792)cGt>cAt	p.R264H	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R264H|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.R264H	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	264					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CACTTTCATACGGTCAAATAC	0.333																																						uc004bdo.1		NaN																	0				ovary(1)	1						c.(790-792)CGT>CAT		catenin, alpha-like 1		C	HIS/ARG	0,4406		0,0,2203	143.0	132.0	136.0		791	4.2	0.4	9	dbSNP_134	136	2,8596	2.2+/-6.3	0,2,4297	yes	missense	CTNNAL1	NM_003798.2	29	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	264/735	111745534	2,13002	2203	4299	6502	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111745534C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.791G>A	9.37:g.111745534C>T	ENSP00000320434:p.Arg264His					CTNNAL1_uc010mts.1_5'UTR|CTNNAL1_uc010mtt.1_Missense_Mutation_p.R264H|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R264H	p.R264H	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	6	833	-			264					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.791G>A	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492450	0.64074	0.0	2.33E-4	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.40225	1.04;1.04;1.04	6.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.48877	1.53	0.58432	D	0.999999	D;P;D	0.89917	1.0;0.782;1.0	D;B;D	0.91635	0.999;0.329;0.999	T	0.54207	-0.8328	10	0.62326	D	0.03	-4.1572	10.2808	0.43539	0.0:0.79:0.136:0.074	.	264;264;264	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	H	264	ENSP00000363723:R264H;ENSP00000320434:R264H;ENSP00000323351:R264H	ENSP00000320434:R264H	R	-	2	0	CTNNAL1	110785355	1.000000	0.71417	0.359000	0.25824	0.941000	0.58515	7.792000	0.85828	0.875000	0.35847	0.650000	0.86243	CGT		0.333	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1		NM_003798		10	46	0	0	0	0.016723	0	10	46		
PALM2	114299	broad.mit.edu	37	9	112642957	112642957	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:112642957C>A	ENST00000374531.2	+	4	333	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	PALM2_ENST00000314527.4_Missense_Mutation_p.Q85K|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q85K|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q85K|PALM2_ENST00000483909.1_Missense_Mutation_p.Q85K|PALM2_ENST00000448454.2_Missense_Mutation_p.Q87K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q85K|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q85K	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	87					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGATAACATTCAGAGGTAGGT	0.527																																						uc004bei.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(253-255)CAG>AAG		A kinase (PRKA) anchor protein 2 isoform 2							69.0	67.0	68.0					9																	112642957		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112642957C>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.259C>A	9.37:g.112642957C>A	ENSP00000363656:p.Gln87Lys					PALM2_uc004bef.2_Missense_Mutation_p.Q87K|PALM2_uc004beg.2_Missense_Mutation_p.Q87K|PALM2_uc004beh.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.Q85K|PALM2-AKAP2_uc004bel.1_5'UTR	p.Q85K	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			3	445	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.253C>A	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837273	0.32513	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.17528	2.5;2.5;2.5;2.5;2.5;2.27;2.5;2.27;2.27;2.27	5.36	5.36	0.76844	.	0.810693	0.10584	N	0.657615	T	0.15609	0.0376	L	0.29908	0.895	0.26816	N	0.968883	B;B;B;B	0.17038	0.02;0.02;0.0;0.001	B;B;B;B	0.15484	0.013;0.013;0.002;0.004	T	0.06679	-1.0813	10	0.87932	D	0	-20.8022	11.9672	0.53042	0.1732:0.8268:0.0:0.0	.	85;85;87;87	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	K	87;87;85;85;71;85;85;85;85;85	ENSP00000363656:Q87K;ENSP00000400206:Q87K;ENSP00000417525:Q85K;ENSP00000323805:Q85K;ENSP00000419747:Q71K;ENSP00000363654:Q85K;ENSP00000397839:Q85K;ENSP00000305861:Q85K;ENSP00000451476:Q85K;ENSP00000421522:Q85K	ENSP00000305861:Q85K	Q	+	1	0	PALM2-AKAP2;PALM2;AKAP2	111682778	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.790000	0.55461	2.693000	0.91896	0.650000	0.86243	CAG		0.527	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1		NM_001037293		26	18	1	0	4.72057e-08	0.021523	6.28398e-08	26	18		
ZNF483	158399	broad.mit.edu	37	9	114304279	114304279	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:114304279G>C	ENST00000309235.5	+	6	1222	c.1064G>C	c.(1063-1065)gGa>gCa	p.G355A	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAAACCGCCGGAGAAAAGTCA	0.438																																						uc004bff.2		NaN																	0				skin(1)	1						c.(1063-1065)GGA>GCA		zinc finger protein 483 isoform a							80.0	90.0	87.0					9																	114304279		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304279G>C	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1064G>C	9.37:g.114304279G>C	ENSP00000311679:p.Gly355Ala					ZNF483_uc004bfg.2_Intron	p.G355A	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1288	+			355					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1064G>C	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020571	0.54576	.	.	ENSG00000173258	ENST00000309235	T	0.04654	3.58	4.46	2.48	0.30137	.	0.165270	0.29165	N	0.012950	T	0.10035	0.0246	M	0.79805	2.47	0.40560	D	0.981205	B	0.17667	0.023	B	0.17979	0.02	T	0.08889	-1.0700	10	0.87932	D	0	-7.8085	14.3153	0.66446	0.0:0.1861:0.8139:0.0	.	355	Q8TF39	ZN483_HUMAN	A	355	ENSP00000311679:G355A	ENSP00000311679:G355A	G	+	2	0	ZNF483	113344100	0.643000	0.27269	0.027000	0.17364	0.142000	0.21351	2.729000	0.47327	0.705000	0.31890	0.591000	0.81541	GGA		0.438	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1		XM_088567		105	7	0	0	0	0.01441	0	105	7		
COL27A1	85301	broad.mit.edu	37	9	116930564	116930564	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:116930564G>A	ENST00000356083.3	+	3	1120	c.729G>A	c.(727-729)caG>caA	p.Q243Q		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	243					extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACACGTACCAGTCCCCACTGG	0.567																																						uc011lxl.1		NaN																	0				ovary(3)|skin(1)	4						c.(727-729)CAG>CAA		collagen, type XXVII, alpha 1 precursor							88.0	81.0	84.0					9																	116930564		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930564G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.729G>A	9.37:g.116930564G>A						COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Silent_p.Q93Q	p.Q243Q	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	729	+			243					Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.729G>A	CCDS6802.1																																																																																				0.567	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		7	162	0	0	0	0.001984	0	7	162		
COL27A1	85301	broad.mit.edu	37	9	116931301	116931301	+	Missense_Mutation	SNP	C	C	T	rs369659292		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:116931301C>T	ENST00000356083.3	+	3	1857	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	489	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTTTATCCTCATCTCCTGCC	0.592																																						uc011lxl.1		NaN																	0				ovary(3)|skin(1)	4						c.(1465-1467)TCA>TTA		collagen, type XXVII, alpha 1 precursor		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	172.0	199.0	190.0		1466	0.1	0.0	9		190	0,8600		0,0,4300	no	missense	COL27A1	NM_032888.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	489/1861	116931301	1,13005	2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931301C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1466C>T	9.37:g.116931301C>T	ENSP00000348385:p.Ser489Leu					COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_Missense_Mutation_p.S339L	p.S489L	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	1466	+			489			Pro-rich.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.1466C>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055223	0.19907	2.27E-4	0.0	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	D;D	0.91894	-2.56;-2.93	4.7	0.0706	0.14379	.	.	.	.	.	T	0.78704	0.4325	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.63567	-0.6608	9	0.25106	T	0.35	.	3.18	0.06581	0.2339:0.4328:0.0:0.3333	.	489;436	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	L	489;489;436;436	ENSP00000348385:S489L;ENSP00000391328:S436L	ENSP00000348385:S489L	S	+	2	0	COL27A1	115971122	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.815000	0.04481	-0.336000	0.08438	0.462000	0.41574	TCA		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888		165	254	0	0	0	0.01441	0	165	254		
TNFSF8	944	broad.mit.edu	37	9	117668133	117668133	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117668133G>C	ENST00000223795.2	-	3	398	c.285C>G	c.(283-285)ttC>ttG	p.F95L	TNFSF8_ENST00000474301.1_5'Flank	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	95					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ATGACTTCTTGAATGGAGCCC	0.423																																						uc004bji.1		NaN																	0				lung(3)|skin(2)|ovary(1)	6						c.(283-285)TTC>TTG		tumor necrosis factor (ligand) superfamily,							178.0	179.0	178.0					9																	117668133		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117668133G>C	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.285C>G	9.37:g.117668133G>C	ENSP00000223795:p.Phe95Leu						p.F95L	NM_001244	NP_001235	P32971	TNFL8_HUMAN			3	472	-			95			Extracellular (Potential).		O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.285C>G	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079566	0.36662	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.78	2.78	0.32641	Tumour necrosis factor-like (1);	0.269948	0.32785	N	0.005642	T	0.24160	0.0585	N	0.19112	0.55	0.25681	N	0.985797	B	0.15141	0.012	B	0.13407	0.009	T	0.10154	-1.0642	9	0.34782	T	0.22	-14.4622	7.1465	0.25585	0.0883:0.3344:0.5773:0.0	.	95	P32971	TNFL8_HUMAN	L	95	.	ENSP00000223795:F95L	F	-	3	2	TNFSF8	116707954	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.369000	0.34227	1.560000	0.49568	0.655000	0.94253	TTC		0.423	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1				49	185	0	0	0	0.01441	0	49	185		
TNFSF8	944	broad.mit.edu	37	9	117668170	117668170	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117668170G>A	ENST00000223795.2	-	3	361	c.248C>T	c.(247-249)tCa>tTa	p.S83L	TNFSF8_ENST00000474301.1_5'Flank	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	83					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAGGTCTTCTGAGCAATTTCC	0.403																																						uc004bji.1		NaN																	0				lung(3)|skin(2)|ovary(1)	6						c.(247-249)TCA>TTA		tumor necrosis factor (ligand) superfamily,							144.0	146.0	146.0					9																	117668170		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117668170G>A	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.248C>T	9.37:g.117668170G>A	ENSP00000223795:p.Ser83Leu						p.S83L	NM_001244	NP_001235	P32971	TNFL8_HUMAN			3	435	-			83			Extracellular (Potential).		O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.248C>T	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659006	0.88154	.	.	ENSG00000106952	ENST00000223795	.	.	.	5.78	5.78	0.91487	.	0.117453	0.38326	N	0.001722	T	0.63534	0.2519	N	0.19112	0.55	0.46849	D	0.99922	D	0.76494	0.999	D	0.80764	0.994	T	0.65726	-0.6098	9	0.59425	D	0.04	-13.5585	15.8585	0.79005	0.0:0.0:1.0:0.0	.	83	P32971	TNFL8_HUMAN	L	83	.	ENSP00000223795:S83L	S	-	2	0	TNFSF8	116707991	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.684000	0.61686	2.890000	0.99128	0.655000	0.94253	TCA		0.403	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1				31	144	0	0	0	0.015359	0	31	144		
TNC	3371	broad.mit.edu	37	9	117800543	117800543	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:117800543T>C	ENST00000350763.4	-	20	5920	c.5509A>G	c.(5509-5511)Aaa>Gaa	p.K1837E	TNC_ENST00000537320.1_Missense_Mutation_p.K1200E|TNC_ENST00000345230.3_Missense_Mutation_p.K1200E|TNC_ENST00000535648.1_Missense_Mutation_p.K1382E|TNC_ENST00000542877.1_Missense_Mutation_p.K1474E|TNC_ENST00000346706.3_Missense_Mutation_p.K1291E|TNC_ENST00000340094.3_Missense_Mutation_p.K1473E|TNC_ENST00000423613.2_Missense_Mutation_p.K1564E|TNC_ENST00000341037.4_Missense_Mutation_p.K1655E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1837	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACCTTACCTTTCTCGCCTGTG	0.517																																						uc004bjj.3		NaN																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(5509-5511)AAA>GAA		tenascin C precursor							136.0	122.0	127.0					9																	117800543		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117800543T>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5509A>G	9.37:g.117800543T>C	ENSP00000265131:p.Lys1837Glu					TNC_uc010mvf.2_Missense_Mutation_p.K1564E	p.K1837E	NM_002160	NP_002151	P24821	TENA_HUMAN			20	5871	-			1837			Fibronectin type-III 14.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.5509A>G	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.916|3.916	-0.019062|-0.019062	0.07634|0.07634	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T|T;T;T;T;T;T;T;T;T	0.58506|0.56103	0.33|0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.544728	.|0.21495	.|N	.|0.073602	T|T	0.32882|0.32882	0.0844|0.0844	N|N	0.16656|0.16656	0.425|0.425	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18310	.|0.027;0.009	.|B;B	.|0.25987	.|0.063;0.065	T|T	0.27123|0.27123	-1.0083|-1.0083	7|10	0.21540|0.02654	T|T	0.41|1	.|.	10.4711|10.4711	0.44638|0.44638	0.0:0.1137:0.0:0.8863|0.0:0.1137:0.0:0.8863	.|.	.|1564;1837	.|E9PC84;P24821	.|.;TENA_HUMAN	G|E	399|1473;1382;1291;1200;1837;1655;1564;1200;1474	ENSP00000445380:E399G|ENSP00000344400:K1473E;ENSP00000438152:K1382E;ENSP00000344555:K1291E;ENSP00000345861:K1200E;ENSP00000265131:K1837E;ENSP00000339553:K1655E;ENSP00000411406:K1564E;ENSP00000443478:K1200E;ENSP00000442242:K1474E	ENSP00000445380:E399G|ENSP00000344400:K1473E	E|K	-|-	2|1	0|0	TNC|TNC	116840364|116840364	0.524000|0.524000	0.26282|0.26282	0.999000|0.999000	0.59377|0.59377	0.629000|0.629000	0.37895|0.37895	1.023000|1.023000	0.30065|0.30065	2.267000|2.267000	0.75376|0.75376	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.517	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160		82	94	0	0	0	0.01441	0	82	94		
GOLGA2	2801	broad.mit.edu	37	9	131020315	131020315	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:131020315C>A	ENST00000421699.2	-	22	2383	c.2371G>T	c.(2371-2373)Gat>Tat	p.D791Y	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.D779Y	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	791					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CACACAGAATCACCCCCGGTC	0.687																																						uc011maw.1		NaN																	0				ovary(1)	1						c.(2371-2373)GAT>TAT		Golgi autoantigen, golgin subfamily a, 2							16.0	20.0	18.0					9																	131020315		2171	4274	6445	SO:0001583	missense	2801					Golgi cisterna membrane	protein binding	g.chr9:131020315C>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2371G>T	9.37:g.131020315C>A	ENSP00000416097:p.Asp791Tyr					GOLGA2_uc010mxw.2_Missense_Mutation_p.D114Y|GOLGA2_uc004buh.2_Missense_Mutation_p.D264Y	p.D791Y	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			22	2384	-			791			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	ENST00000421699.2	37	c.2371G>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	c	14.89	2.671465	0.47781	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	T	0.30714	1.52	5.01	2.19	0.27852	.	0.424896	0.28927	N	0.013699	T	0.49236	0.1545	M	0.76328	2.33	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.983	D;D;P	0.70227	0.968;0.959;0.847	T	0.36456	-0.9747	10	0.87932	D	0	.	7.6983	0.28608	0.0:0.7315:0.0:0.2685	.	791;409;75	Q08379;Q08379-2;Q5HYE0	GOGA2_HUMAN;.;.	Y	791;75	ENSP00000416097:D791Y	ENSP00000342692:D75Y	D	-	1	0	GOLGA2	130060136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.494000	0.22467	0.167000	0.19631	0.655000	0.94253	GAT		0.687	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486		41	63	1	0	5.20837e-25	0.00874	7.32178e-25	41	63		
ZER1	10444	broad.mit.edu	37	9	131504994	131504994	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:131504994T>C	ENST00000291900.2	-	9	1796	c.1390A>G	c.(1390-1392)Aac>Gac	p.N464D		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	464					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						ATGCTGAAGTTGCAGAGCGTC	0.617																																						uc004bwa.1		NaN																	0				ovary(1)	1						c.(1390-1392)AAC>GAC		zyg-11 homolog B (C. elegans)-like							42.0	34.0	37.0					9																	131504994		2203	4300	6503	SO:0001583	missense	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131504994T>C	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1390A>G	9.37:g.131504994T>C	ENSP00000291900:p.Asn464Asp						p.N464D	NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN			9	1823	-			464			ARM 1.		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	ENST00000291900.2	37	c.1390A>G	CCDS6910.1	.	.	.	.	.	.	.	.	.	.	T	31	5.060547	0.93846	.	.	ENSG00000160445	ENST00000291900	T	0.08370	3.1	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.141627	0.64402	D	0.000004	T	0.22126	0.0533	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.00312	-1.1826	10	0.54805	T	0.06	-51.3246	15.1547	0.72730	0.0:0.0:0.0:1.0	.	464	Q7Z7L7	ZER1_HUMAN	D	464	ENSP00000291900:N464D	ENSP00000291900:N464D	N	-	1	0	ZER1	130544815	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.502000	0.81614	2.165000	0.68154	0.533000	0.62120	AAC		0.617	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1		NM_006336		6	32	0	0	0	0.001168	0	6	32		
USP20	10868	broad.mit.edu	37	9	132637006	132637006	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:132637006C>T	ENST00000315480.4	+	18	2050	c.1892C>T	c.(1891-1893)tCg>tTg	p.S631L	USP20_ENST00000358355.1_Missense_Mutation_p.S631L|USP20_ENST00000372429.3_Missense_Mutation_p.S631L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	631	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GACCTCCTCTCGGTCATCTGC	0.647																																						uc004bys.2		NaN																	0				lung(1)|breast(1)	2						c.(1891-1893)TCG>TTG		ubiquitin specific protease 20							80.0	88.0	85.0					9																	132637006		2145	4257	6402	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132637006C>T	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1892C>T	9.37:g.132637006C>T	ENSP00000313811:p.Ser631Leu					USP20_uc004byr.2_Missense_Mutation_p.S631L|USP20_uc004byt.1_Missense_Mutation_p.S631L	p.S631L	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN			18	2103	+		Ovarian(14;0.00556)	631					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.1892C>T	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155797	0.78114	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.03580	3.88;3.88;3.88	5.06	5.06	0.68205	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.058924	0.64402	D	0.000001	T	0.10465	0.0256	M	0.89030	3	0.80722	D	1	P	0.36944	0.574	B	0.33568	0.166	T	0.02358	-1.1171	10	0.87932	D	0	.	17.4169	0.87503	0.0:1.0:0.0:0.0	.	631	Q9Y2K6	UBP20_HUMAN	L	631	ENSP00000361506:S631L;ENSP00000313811:S631L;ENSP00000351122:S631L	ENSP00000313811:S631L	S	+	2	0	USP20	131676827	1.000000	0.71417	0.855000	0.33649	0.931000	0.56810	7.484000	0.81180	2.308000	0.77769	0.650000	0.86243	TCG		0.647	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2				49	103	0	0	0	0.01441	0	49	103		
SETX	23064	broad.mit.edu	37	9	135158707	135158707	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:135158707C>G	ENST00000224140.5	-	19	6672	c.6490G>C	c.(6490-6492)Gag>Cag	p.E2164Q	SETX_ENST00000393220.1_Missense_Mutation_p.E2164Q|SETX_ENST00000372169.2_Missense_Mutation_p.E2164Q	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2164					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAGCAGACTCAAGTAGTAAA	0.483																																						uc004cbk.2		NaN																	0				ovary(2)|skin(1)	3						c.(6490-6492)GAG>CAG		senataxin							196.0	152.0	167.0					9																	135158707		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135158707C>G	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6490G>C	9.37:g.135158707C>G	ENSP00000224140:p.Glu2164Gln					SETX_uc004cbj.2_Missense_Mutation_p.E1783Q|SETX_uc010mzt.2_Missense_Mutation_p.E1783Q	p.E2164Q	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	19	6673	-		Myeloproliferative disorder(178;0.204)	2164					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.6490G>C	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942499	0.73672	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.88066	0.6337	L	0.45285	1.41	0.46028	D	0.99882	P;D;D	0.89917	0.936;1.0;1.0	P;D;D	0.91635	0.789;0.999;0.997	D	0.88443	0.3043	10	0.51188	T	0.08	.	17.2756	0.87114	0.0:1.0:0.0:0.0	.	2164;2164;2164	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	Q	2164;406;2164;2164	ENSP00000224140:E2164Q;ENSP00000409143:E406Q;ENSP00000361242:E2164Q;ENSP00000376913:E2164Q	ENSP00000224140:E2164Q	E	-	1	0	SETX	134148528	1.000000	0.71417	0.980000	0.43619	0.680000	0.39746	6.185000	0.72013	2.299000	0.77371	0.563000	0.77884	GAG		0.483	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3		NM_015046		4	116	0	0	0	0.009096	0	4	116		
RXRA	6256	broad.mit.edu	37	9	137300887	137300887	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr9:137300887C>G	ENST00000481739.1	+	4	584	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	RXRA_ENST00000540193.1_Missense_Mutation_p.L81V|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	178					camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CAAGGACTGCCTGATTGACAA	0.627																																						uc004cfb.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(532-534)CTG>GTG		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						114.0	97.0	103.0					9																	137300887		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137300887C>G	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.532C>G	9.37:g.137300887C>G	ENSP00000419692:p.Leu178Val					RXRA_uc004cfc.1_Missense_Mutation_p.L81V	p.L178V	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	4	694	+			178			NR C4-type.|Nuclear receptor.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.532C>G	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	8.495	0.862823	0.17178	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.97089	-4.24;-4.24	4.25	4.25	0.50352	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.236035	0.37261	N	0.002174	D	0.88321	0.6405	N	0.02345	-0.59	0.33347	D	0.570627	B	0.06786	0.001	B	0.15052	0.012	D	0.85565	0.1230	10	0.34782	T	0.22	.	5.9145	0.19048	0.1683:0.6844:0.0:0.1473	.	178	P19793	RXRA_HUMAN	V	178;81	ENSP00000419692:L178V;ENSP00000442123:L81V	ENSP00000419692:L178V	L	+	1	2	RXRA	136440708	0.021000	0.18746	1.000000	0.80357	0.997000	0.91878	-0.214000	0.09292	2.056000	0.61249	0.561000	0.74099	CTG		0.627	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1		NM_002957		5	195	0	0	0	0.001168	0	5	195		
SHROOM2	357	broad.mit.edu	37	X	9864156	9864156	+	Silent	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:9864156C>G	ENST00000380913.3	+	4	2298	c.2208C>G	c.(2206-2208)ccC>ccG	p.P736P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	736	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCAGCCACCCTCATCTACAA	0.622																																						uc004csu.1		NaN																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2206-2208)CCC>CCG		apical protein of Xenopus-like							12.0	12.0	12.0					X																	9864156		2169	4238	6407	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9864156C>G	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2208C>G	X.37:g.9864156C>G							p.P736P	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	2298	+		Hepatocellular(5;0.000888)	736			ASD1.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.2208C>G	CCDS14135.1																																																																																				0.622	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1		NM_001649		9	9	0	0	0	0.008291	0	9	9		
GEMIN8	54960	broad.mit.edu	37	X	14038306	14038306	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:14038306C>G	ENST00000380523.4	-	4	681	c.363G>C	c.(361-363)gaG>gaC	p.E121D	GEMIN8_ENST00000398355.3_Missense_Mutation_p.E121D|GEMIN8_ENST00000460203.1_5'UTR	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	121					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CAGTCTCCATCTCTTCCTCTT	0.483																																						uc004cwb.2		NaN																	0					0						c.(361-363)GAG>GAC		gem (nuclear organelle) associated protein 8							225.0	208.0	214.0					X																	14038306		2203	4300	6503	SO:0001583	missense	54960				spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding	g.chrX:14038306C>G	BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.363G>C	X.37:g.14038306C>G	ENSP00000369895:p.Glu121Asp					GEMIN8_uc004cwc.2_Missense_Mutation_p.E121D|GEMIN8_uc004cwd.2_Missense_Mutation_p.E121D	p.E121D	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN			4	706	-			121					C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	c.363G>C	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	5.413	0.261351	0.10239	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.50813	0.73;0.73;0.73	4.63	4.63	0.57726	.	0.268407	0.41823	D	0.000802	T	0.34308	0.0893	L	0.35487	1.065	0.48341	D	0.999636	B	0.25390	0.125	B	0.22386	0.039	T	0.15549	-1.0433	10	0.34782	T	0.22	.	9.4843	0.38919	0.0:0.9017:0.0:0.0983	.	121	Q9NWZ8	GEMI8_HUMAN	D	121	ENSP00000369895:E121D;ENSP00000381398:E121D;ENSP00000369894:E121D	ENSP00000369894:E121D	E	-	3	2	GEMIN8	13948227	0.006000	0.16342	0.070000	0.20053	0.012000	0.07955	-0.132000	0.10467	2.152000	0.67230	0.594000	0.82650	GAG		0.483	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1		NM_017856		115	24	0	0	0	0.01441	0	115	24		
GPR64	10149	broad.mit.edu	37	X	19021018	19021018	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:19021018C>A	ENST00000379869.3	-	24	2339	c.2176G>T	c.(2176-2178)Gta>Tta	p.V726L	GPR64_ENST00000357544.3_Missense_Mutation_p.V696L|GPR64_ENST00000379878.3_Missense_Mutation_p.V710L|GPR64_ENST00000356606.4_Missense_Mutation_p.V712L|GPR64_ENST00000340581.3_Missense_Mutation_p.V607L|GPR64_ENST00000379876.1_Missense_Mutation_p.V702L|GPR64_ENST00000379873.2_Missense_Mutation_p.V726L|GPR64_ENST00000357991.3_Missense_Mutation_p.V723L|GPR64_ENST00000354791.3_Missense_Mutation_p.V710L|GPR64_ENST00000360279.4_Missense_Mutation_p.V704L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	726					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTATTAAATACTTTGACAAGG	0.418																																						uc004cyx.2		NaN																	0					0						c.(2176-2178)GTA>TTA		G protein-coupled receptor 64 isoform 1							99.0	95.0	96.0					X																	19021018		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19021018C>A	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2176G>T	X.37:g.19021018C>A	ENSP00000369198:p.Val726Leu					GPR64_uc004cyy.2_Missense_Mutation_p.V723L|GPR64_uc004cyz.2_Missense_Mutation_p.V712L|GPR64_uc004czb.2_Missense_Mutation_p.V726L|GPR64_uc004czc.2_Missense_Mutation_p.V710L|GPR64_uc004czd.2_Missense_Mutation_p.V702L|GPR64_uc004cze.2_Missense_Mutation_p.V696L|GPR64_uc004czf.2_Missense_Mutation_p.V688L|GPR64_uc004cza.2_Missense_Mutation_p.V704L|GPR64_uc004cyw.2_Missense_Mutation_p.V710L|GPR64_uc010nfj.2_Missense_Mutation_p.V607L	p.V726L	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			24	2340	-	Hepatocellular(33;0.183)		726			Cytoplasmic (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2176G>T	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946066	0.92593	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.36	5.36	0.76844	GPCR, family 2-like (1);	0.000000	0.47455	D	0.000238	T	0.61714	0.2369	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.987;0.983;1.0;0.999;0.999;0.998;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.982;0.91;0.999;0.988;0.988;0.993;0.999;0.999;0.999;0.993;0.999	T	0.65928	-0.6049	10	0.87932	D	0	.	18.1922	0.89810	0.0:1.0:0.0:0.0	.	607;688;696;702;710;726;704;712;723;726;710	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	L	726;710;710;702;696;726;704;723;712;607	ENSP00000369202:V726L;ENSP00000369207:V710L;ENSP00000346845:V710L;ENSP00000369205:V702L;ENSP00000350152:V696L;ENSP00000369198:V726L;ENSP00000353421:V704L;ENSP00000350680:V723L;ENSP00000349015:V712L;ENSP00000344972:V607L	ENSP00000344972:V607L	V	-	1	0	GPR64	18930939	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.442000	0.80503	2.233000	0.73108	0.544000	0.68410	GTA		0.418	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2				25	33	1	0	8.24728e-16	0.004656	1.14003e-15	25	33		
DMD	1756	broad.mit.edu	37	X	32429985	32429985	+	Missense_Mutation	SNP	G	G	T	rs398123948		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:32429985G>T	ENST00000357033.4	-	30	4323	c.4117C>A	c.(4117-4119)Cag>Aag	p.Q1373K	DMD_ENST00000378677.2_Missense_Mutation_p.Q1369K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1373					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAGTCTCCTGGGCAGACTGG	0.418																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4117-4119)CAG>AAG		dystrophin Dp427m isoform							110.0	87.0	95.0					X																	32429985		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32429985G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4117C>A	X.37:g.32429985G>T	ENSP00000354923:p.Gln1373Lys					DMD_uc004dcw.2_Missense_Mutation_p.Q29K|DMD_uc004dcx.2_Missense_Mutation_p.Q32K|DMD_uc004dcz.2_Missense_Mutation_p.Q1250K|DMD_uc004dcy.1_Missense_Mutation_p.Q1369K|DMD_uc004ddb.1_Missense_Mutation_p.Q1365K|DMD_uc010ngo.1_Intron	p.Q1373K	NM_004006	NP_003997	P11532	DMD_HUMAN			30	4361	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1373					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4117C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557720	0.65425	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.20463	2.07;2.07	5.68	5.68	0.88126	.	0.000000	0.33712	U	0.004638	T	0.25901	0.0631	M	0.62016	1.91	0.80722	D	1	B;B;B;B;B	0.31817	0.341;0.324;0.231;0.083;0.083	B;B;B;B;B	0.35971	0.215;0.123;0.107;0.04;0.04	T	0.06991	-1.0796	10	0.07175	T	0.84	.	18.7838	0.91946	0.0:0.0:1.0:0.0	.	1365;1373;1369;32;29	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1365;32;29;1369;1373;1373;1250	ENSP00000367948:Q1369K;ENSP00000354923:Q1373K	ENSP00000354923:Q1373K	Q	-	1	0	DMD	32339906	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.978000	0.88095	2.381000	0.81170	0.506000	0.49869	CAG		0.418	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		7	8	1	0	5.18039e-06	0.00308	6.79772e-06	7	8		
EDA2R	60401	broad.mit.edu	37	X	65824270	65824270	+	Silent	SNP	C	C	T			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:65824270C>T	ENST00000374719.3	-	4	401	c.345G>A	c.(343-345)gaG>gaA	p.E115E	EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000253392.5_Silent_p.E115E|EDA2R_ENST00000450752.1_Silent_p.E115E|EDA2R_ENST00000396050.1_Silent_p.E115E|EDA2R_ENST00000456230.2_Silent_p.E115E	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	115					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CACATTGAACCTCAGAGGTGG	0.512																																						uc004dwq.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(343-345)GAG>GAA		X-linked ectodysplasin receptor							218.0	147.0	171.0					X																	65824270		2203	4300	6503	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65824270C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.345G>A	X.37:g.65824270C>T						EDA2R_uc004dwr.2_Silent_p.E115E|EDA2R_uc004dws.2_Silent_p.E115E|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Silent_p.E115E|EDA2R_uc004dwt.1_Silent_p.E115E	p.E115E	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN			3	356	-			115			TNFR-Cys 3.|Extracellular (Potential).		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	ENST00000374719.3	37	c.345G>A	CCDS14386.1																																																																																				0.512	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1		NM_021783		13	28	0	0	0	0.020292	0	13	28		
PGAM4	441531	broad.mit.edu	37	X	77224638	77224638	+	Silent	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:77224638G>A	ENST00000458128.1	-	1	497	c.498C>T	c.(496-498)ttC>ttT	p.F166F	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	166					glycolytic process (GO:0006096)|positive regulation of sperm motility (GO:1902093)	extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			endometrium(2)|lung(4)	6						CTTCATTCCAGAAGGGCAGAG	0.517																																						uc004ecy.1		NaN																	0					0						c.(496-498)TTC>TTT		bisphosphoglycerate mutase 4							64.0	62.0	63.0					X																	77224638		2203	4295	6498	SO:0001819	synonymous_variant	441531				glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity	g.chrX:77224638G>A	AF465731	CCDS35338.1	Xq21.1	2011-02-09	2006-02-09		ENSG00000226784	ENSG00000226784			21731	protein-coding gene	gene with protein product		300567	"""phosphoglycerate mutase family 4"""			11961099, 9370262	Standard	NM_001029891		Approved	dJ1000K24.1, PGAM3, PGAM-B, PGAM1	uc004ecy.1	Q8N0Y7	OTTHUMG00000057865	ENST00000458128.1:c.498C>T	X.37:g.77224638G>A						ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron	p.F166F	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN			1	498	-			166					Q5JPN2|Q8NI24|Q8NI25|Q8NI26	Silent	SNP	ENST00000458128.1	37	c.498C>T	CCDS35338.1																																																																																				0.517	PGAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128371.2		NM_001029891		43	53	0	0	0	0.011902	0	43	53		
CENPI	2491	broad.mit.edu	37	X	100382569	100382569	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:100382569C>G	ENST00000372927.1	+	10	1266	c.989C>G	c.(988-990)tCt>tGt	p.S330C	CENPI_ENST00000423383.1_Missense_Mutation_p.S330C|CENPI_ENST00000372926.1_Missense_Mutation_p.S330C|CENPI_ENST00000218507.5_Missense_Mutation_p.S330C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	330					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						ATGAGTCTTTCTGATTGTCTG	0.378																																						uc004egx.2		NaN																	0				skin(1)	1						c.(988-990)TCT>TGT		centromere protein I							104.0	97.0	100.0					X																	100382569		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100382569C>G	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.989C>G	X.37:g.100382569C>G	ENSP00000362018:p.Ser330Cys					CENPI_uc011mrg.1_Missense_Mutation_p.S330C|CENPI_uc004egy.2_Missense_Mutation_p.S330C	p.S330C	NM_006733	NP_006724	Q92674	CENPI_HUMAN			10	1259	+			330					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.989C>G	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	6.040	0.375666	0.11409	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.4	2.57	0.30868	.	0.664022	0.14504	N	0.315570	T	0.28699	0.0711	L	0.27053	0.805	0.09310	N	1	B;B	0.22541	0.071;0.071	B;B	0.28385	0.089;0.089	T	0.22243	-1.0222	9	0.38643	T	0.18	-5.0908	6.353	0.21387	0.1335:0.6437:0.0:0.2227	.	330;330	B4DZL4;Q92674	.;CENPI_HUMAN	C	330	.	ENSP00000218507:S330C	S	+	2	0	CENPI	100269225	0.051000	0.20477	0.961000	0.40146	0.279000	0.26890	0.116000	0.15561	0.542000	0.28846	-0.245000	0.11935	TCT		0.378	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1		NM_006733		5	50	0	0	0	0.014758	0	5	50		
CXorf57	55086	broad.mit.edu	37	X	105882904	105882904	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:105882904C>A	ENST00000372548.4	+	9	1830	c.1721C>A	c.(1720-1722)tCa>tAa	p.S574*	CXorf57_ENST00000372544.2_Intron|MIR548AN_ENST00000408286.2_RNA	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	574							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCTCAGCATCAGAAACACTT	0.398																																						uc004emi.3		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1720-1722)TCA>TAA		hypothetical protein LOC55086							99.0	92.0	94.0					X																	105882904		2203	4300	6503	SO:0001587	stop_gained	55086							g.chrX:105882904C>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1721C>A	X.37:g.105882904C>A	ENSP00000361628:p.Ser574*					CXorf57_uc004emj.3_Intron	p.S574*	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			9	1872	+			574					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Nonsense_Mutation	SNP	ENST00000372548.4	37	c.1721C>A	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	38	6.793500	0.97841	.	.	ENSG00000147231	ENST00000372548	.	.	.	5.19	3.41	0.39046	.	1.254980	0.05200	N	0.504693	.	.	.	.	.	.	0.21861	N	0.999505	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0116	2.8168	0.05458	0.2131:0.5088:0.0:0.2781	.	.	.	.	X	574	.	ENSP00000361628:S574X	S	+	2	0	CXorf57	105769560	0.996000	0.38824	0.760000	0.31359	0.861000	0.49209	1.317000	0.33631	1.257000	0.44085	0.538000	0.68166	TCA		0.398	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2		NM_018015		21	37	1	0	7.41877e-09	0.012319	9.92366e-09	21	37		
PLS3	5358	broad.mit.edu	37	X	114869355	114869355	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:114869355G>C	ENST00000420625.2	+	7	879	c.745G>C	c.(745-747)Gaa>Caa	p.E249Q	PLS3_ENST00000539310.1_Missense_Mutation_p.E204Q|PLS3_ENST00000289290.3_Missense_Mutation_p.E204Q|PLS3_ENST00000355899.3_Missense_Mutation_p.E249Q|PLS3_ENST00000537301.1_Missense_Mutation_p.E227Q	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	249	Actin-binding 1.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						AAGCAGGAATGAAGGTAATGG	0.408																																					Colon(160;1047 1864 8490 12969 29601)	uc004eqd.2		NaN																	0				lung(1)|breast(1)	2						c.(745-747)GAA>CAA		plastin 3							208.0	174.0	185.0					X																	114869355		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114869355G>C	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.745G>C	X.37:g.114869355G>C	ENSP00000398945:p.Glu249Gln					PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.E227Q|PLS3_uc004eqe.2_Missense_Mutation_p.E249Q|PLS3_uc011mtg.1_Missense_Mutation_p.E222Q|PLS3_uc011mth.1_Missense_Mutation_p.E204Q	p.E249Q	NM_005032	NP_005023	P13797	PLST_HUMAN			7	1135	+			249			Actin-binding 1.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.745G>C	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152238	0.57259	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.31	4.43	0.53597	Calponin homology domain (2);	0.097167	0.64402	D	0.000001	D	0.93321	0.7871	M	0.76574	2.34	0.80722	D	1	B;P;P	0.41848	0.039;0.763;0.763	B;B;B	0.30572	0.016;0.117;0.117	D	0.92132	0.5713	10	0.72032	D	0.01	-20.3187	13.6168	0.62112	0.0:0.1529:0.8471:0.0	.	222;227;249	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	Q	249;227;204;249;204	ENSP00000348163:E249Q;ENSP00000445105:E227Q;ENSP00000289290:E204Q;ENSP00000398945:E249Q;ENSP00000445339:E204Q	ENSP00000289290:E204Q	E	+	1	0	PLS3	114775611	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.476000	0.97823	0.976000	0.38417	0.506000	0.49869	GAA		0.408	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2				26	51	0	0	0	0.007291	0	26	51		
MAGEC3	139081	broad.mit.edu	37	X	140985120	140985120	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:140985120G>A	ENST00000298296.1	+	7	1576	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	MAGEC3_ENST00000536088.1_Missense_Mutation_p.E228K|MAGEC3_ENST00000443323.2_Missense_Mutation_p.E148K|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E228K|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E228K	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	526	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTTCTTTGAAGACACATT	0.438																																						uc011mwp.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1576-1578)GAA>AAA		melanoma antigen family C, 3 isoform 1							151.0	144.0	146.0					X																	140985120		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985120G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1576G>A	X.37:g.140985120G>A	ENSP00000298296:p.Glu526Lys					MAGEC3_uc004fbs.2_Missense_Mutation_p.E228K|MAGEC3_uc010nsj.2_Missense_Mutation_p.E228K	p.E526K	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			7	1576	+	Acute lymphoblastic leukemia(192;6.56e-05)		526			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1576G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	11.04	1.521326	0.27211	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.04502	3.61;3.61;3.61;3.61;3.61	1.25	0.197	0.15164	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	P;B	0.38078	0.617;0.168	B;B	0.33121	0.111;0.158	T	0.44112	-0.9349	9	0.52906	T	0.07	.	4.0781	0.09914	0.0:0.0:0.596:0.404	.	526;228	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	K	526;228;148;228;228	ENSP00000298296:E526K;ENSP00000441107:E228K;ENSP00000438254:E148K;ENSP00000440444:E228K;ENSP00000386566:E228K	ENSP00000298296:E526K	E	+	1	0	MAGEC3	140812786	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.579000	0.02123	-0.004000	0.14419	0.284000	0.19432	GAA		0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1		NM_138702		52	99	0	0	0	0.01441	0	52	99		
MTM1	4534	broad.mit.edu	37	X	149767125	149767125	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:149767125G>A	ENST00000370396.2	+	4	260	c.206G>A	c.(205-207)cGt>cAt	p.R69H	MTM1_ENST00000542741.1_Intron|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.R69H|MTM1_ENST00000543350.1_Intron	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	69	GRAM.		R -> C (in CNMX; mild; reduced response to PI5P and reduced binding to PI(3,5)P2). {ECO:0000269|PubMed:11793470, ECO:0000269|PubMed:9285787, ECO:0000269|PubMed:9305655}.|R -> P (in CNMX). {ECO:0000269|PubMed:12522554}.|R -> S (in CNMX; severe). {ECO:0000269|PubMed:12522554}.		endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					ACAAATTATCGTCTTTATTTA	0.299																																						uc004fef.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3	GRCh37	CM030242	MTM1	M		c.(205-207)CGT>CAT		myotubularin							63.0	62.0	62.0					X																	149767125		2202	4295	6497	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149767125G>A	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.206G>A	X.37:g.149767125G>A	ENSP00000359423:p.Arg69His					MTM1_uc011mxx.1_Intron|MTM1_uc011mxy.1_Missense_Mutation_p.R69H|MTM1_uc011mxz.1_Intron|MTM1_uc010nte.2_5'UTR	p.R69H	NM_000252	NP_000243	Q13496	MTM1_HUMAN			4	282	+	Acute lymphoblastic leukemia(192;6.56e-05)		69		R -> P (in XCNM).|R -> C (in XCNM; mild; reduced response to PI5P and reduced binding to PI(3,5)P2).|R -> S (in XCNM; severe).	GRAM.		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.206G>A	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303474	0.81136	.	.	ENSG00000171100	ENST00000370396;ENST00000424519;ENST00000413012	D;D;D	0.85702	-2.02;-2.02;-2.02	5.62	5.62	0.85841	GRAM (2);	0.050114	0.85682	D	0.000000	D	0.90741	0.7094	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.973;0.987	D	0.91349	0.5103	10	0.87932	D	0	.	10.9578	0.47368	0.0888:0.0:0.9112:0.0	.	69;69	B7Z491;Q13496	.;MTM1_HUMAN	H	69	ENSP00000359423:R69H;ENSP00000400699:R69H;ENSP00000389157:R69H	ENSP00000359423:R69H	R	+	2	0	MTM1	149517783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.410000	0.66381	2.363000	0.80096	0.600000	0.82982	CGT		0.299	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3		NM_000252		8	13	0	0	0	0.004482	0	8	13		
PGLYRP3	114771	broad.mit.edu	37	1	153270479	153270479	+	Frame_Shift_Del	DEL	G	G	-	rs542269185		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:153270479delG	ENST00000290722.1	-	7	1031	c.979delC	c.(979-981)cagfs	p.Q327fs		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	327					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACAAAGCCTGCCCAGGGGAC	0.587																																						uc001fbn.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(979-981)CAGfs		peptidoglycan recognition protein 3 precursor							223.0	189.0	201.0					1																	153270479		2203	4300	6503	SO:0001589	frameshift_variant	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153270479delG	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.979delC	1.37:g.153270479delG	ENSP00000290722:p.Gln327fs						p.Q327fs	NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		7	1032	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		327					A1A4U8|Q5SY65	Frame_Shift_Del	DEL	ENST00000290722.1	37	c.979delC	CCDS1035.1																																																																																				0.587	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1		NM_052891		98	179	NaN	NaN	NaN	NaN	NaN	98	179	---	---
PRRC2C	23215	broad.mit.edu	37	1	171484935	171484936	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:171484935_171484936insA	ENST00000338920.4	+	5	694_695	c.457_458insA	c.(457-459)gaafs	p.E153fs	PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.E155fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.E153fs|PRRC2C_ENST00000367742.3_Frame_Shift_Ins_p.E155fs|PRRC2C_ENST00000476522.1_3'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	153					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										TGGGGATCAGGAAAAAAAAGAA	0.356																																						uc010pmg.1		NaN																	0					0						c.(457-459)GAAfs		HBxAg transactivated protein 2																																				SO:0001589	frameshift_variant	23215						protein C-terminus binding	g.chr1:171484935_171484936insA	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.465dupA	1.37:g.171484943_171484943dupA	ENSP00000343629:p.Glu153fs					BAT2L2_uc001ghq.1_Frame_Shift_Ins_p.E150fs|BAT2L2_uc001ghr.1_Frame_Shift_Ins_p.E155fs	p.E153fs	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			5	723_724	+			153					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Ins	INS	ENST00000338920.4	37	c.457_458insA	CCDS1296.2																																																																																				0.356	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4		NM_015172		7	249	NaN	NaN	NaN	NaN	NaN	7	249	---	---
FAIM3	9214	broad.mit.edu	37	1	207087118	207087119	+	Frame_Shift_Ins	INS	-	-	G	rs571196023		TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr1:207087118_207087119insG	ENST00000367091.3	-	2	501_502	c.358_359insC	c.(358-360)ctgfs	p.L120fs	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Frame_Shift_Ins_p.L120fs	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	120					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTGGACATTCAGGGTGACTTTC	0.515																																						uc001hey.2		NaN																	0				central_nervous_system(1)	1						c.(358-360)CTGfs		Fas apoptotic inhibitory molecule 3 isoform a																																				SO:0001589	frameshift_variant	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087118_207087119insG	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.359dupC	1.37:g.207087121_207087121dupG	ENSP00000356058:p.Leu120fs					FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Intron|FAIM3_uc010psb.1_Frame_Shift_Ins_p.L120fs	p.L120fs	NM_005449	NP_005440	O60667	FAIM3_HUMAN			2	537_538	-	Breast(84;0.201)		120			Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Frame_Shift_Ins	INS	ENST00000367091.3	37	c.358_359insC	CCDS1473.1																																																																																				0.515	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1		NM_005449		24	116	NaN	NaN	NaN	NaN	NaN	24	116	---	---
MYEF2	50804	broad.mit.edu	37	15	48444460	48444460	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr15:48444460delC	ENST00000324324.7	-	11	1388	c.1109delG	c.(1108-1110)ggtfs	p.G370fs	MYEF2_ENST00000267836.6_Frame_Shift_Del_p.G370fs	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	370	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCCTCCAAAACCTGGACCATC	0.289																																						uc001zwi.3		NaN																	0				lung(2)|ovary(1)	3						c.(1108-1110)GGTfs		myelin expression factor 2							114.0	123.0	120.0					15																	48444460		2198	4297	6495	SO:0001589	frameshift_variant	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48444460delC	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1109delG	15.37:g.48444460delC	ENSP00000316950:p.Gly370fs					MYEF2_uc001zwg.3_5'Flank|MYEF2_uc001zwh.3_5'Flank|MYEF2_uc001zwj.3_Frame_Shift_Del_p.G370fs	p.G370fs	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	11	1233	-		all_lung(180;0.00217)	370			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Frame_Shift_Del	DEL	ENST00000324324.7	37	c.1109delG	CCDS32230.1																																																																																				0.289	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2		NM_016132		9	33	NaN	NaN	NaN	NaN	NaN	9	33	---	---
EPX	8288	broad.mit.edu	37	17	56277646	56277650	+	Frame_Shift_Del	DEL	ATGCC	ATGCC	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:56277646_56277650delATGCC	ENST00000225371.5	+	10	1708_1712	c.1598_1602delATGCC	c.(1597-1602)gatgccfs	p.DA533fs		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	533					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	AACCGTCAGGATGCCATGTTAGTGG	0.634											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ivq.2		NaN																	0				ovary(2)	2						c.(1597-1602)GATGCCfs		eosinophil peroxidase preproprotein																																				SO:0001589	frameshift_variant	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56277646_56277650delATGCC	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1598_1602delATGCC	17.37:g.56277646_56277650delATGCC	ENSP00000225371:p.Asp533fs		OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.D533fs	NM_000502	NP_000493	P11678	PERE_HUMAN			10	1684_1688	+			533_534					Q4TVP3	Frame_Shift_Del	DEL	ENST00000225371.5	37	c.1598_1602delATGCC	CCDS11602.1																																																																																				0.634	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1		NM_000502		21	221	NaN	NaN	NaN	NaN	NaN	21	221	---	---
SRP68	6730	broad.mit.edu	37	17	74068550	74068550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr17:74068550delG	ENST00000307877.2	-	1	184	c.23delC	c.(22-24)ccafs	p.P8fs	SRP68_ENST00000539137.1_Frame_Shift_Del_p.P8fs|SRP68_ENST00000355113.5_5'UTR|GALR2_ENST00000329003.3_5'Flank	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						gccgccgccTGGGACCTGCTT	0.711																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.(22-24)CCAfs		signal recognition particle 68kDa							6.0	7.0	7.0					17																	74068550		1581	3506	5087	SO:0001589	frameshift_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068550delG	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.23delC	17.37:g.74068550delG	ENSP00000312066:p.Pro8fs					SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Frame_Shift_Del_p.P8fs|GALR2_uc002jqm.1_5'Flank	p.P8fs	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			1	58	-			8					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Frame_Shift_Del	DEL	ENST00000307877.2	37	c.23delC	CCDS11738.1																																																																																				0.711	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		25	124	NaN	NaN	NaN	NaN	NaN	25	124	---	---
PREX2	80243	broad.mit.edu	37	8	69011949	69011949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chr8:69011949delT	ENST00000288368.4	+	23	2863	c.2586delT	c.(2584-2586)catfs	p.H862fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	862					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGATGAGCATTTTGTACAAA	0.408																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2584-2586)CATfs		DEP domain containing 2 isoform a							155.0	136.0	142.0					8																	69011949		2203	4300	6503	SO:0001589	frameshift_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69011949delT	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2586delT	8.37:g.69011949delT	ENSP00000288368:p.His862fs					PREX2_uc003xxu.1_Frame_Shift_Del_p.H862fs|PREX2_uc011lez.1_Frame_Shift_Del_p.H797fs	p.H862fs	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			23	2613	+			862					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Frame_Shift_Del	DEL	ENST00000288368.4	37	c.2586delT	CCDS6201.1																																																																																				0.408	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		13	80	NaN	NaN	NaN	NaN	NaN	13	80	---	---
STAG2	10735	broad.mit.edu	37	X	123189994	123189994	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HQ-01A-11D-A17V-08	TCGA-H4-A2HQ-10A-01D-A17V-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	94108975-b7a0-40ba-ad39-e44cc62e8cc0	2a00d649-7f80-467d-849d-1383cceec965	g.chrX:123189994delC	ENST00000371160.1	+	14	1503	c.1213delC	c.(1213-1215)ctcfs	p.L405fs	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Frame_Shift_Del_p.L336fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.L405fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.L405fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.L405fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.L405fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	405					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGAAGAAGTTCTCACTGCAGA	0.363																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(1213-1215)CTCfs		stromal antigen 2 isoform b							96.0	89.0	91.0					X																	123189994		2203	4300	6503	SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123189994delC	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1213delC	X.37:g.123189994delC	ENSP00000360202:p.Leu405fs					STAG2_uc004eua.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eub.2_Frame_Shift_Del_p.L405fs|STAG2_uc004euc.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eud.2_Frame_Shift_Del_p.L405fs|STAG2_uc004eue.2_Frame_Shift_Del_p.L405fs	p.L405fs	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			13	1552	+			405					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.1213delC	CCDS14607.1																																																																																				0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		57	21	NaN	NaN	NaN	NaN	NaN	57	21	---	---
